BioMedGraphica_Conn_ID,BioMedGraphica_ID,Disease_Name_List
BMGC_DS00001,BMG_DS000001,"ABL - Abetalipoproteinaemia | ABL - Abetalipoproteinemia | Abetalipoproteinaemia | Abetalipoproteinemia | Abetalipoproteinemia (disorder) | Apolipoprotein B deficiency | Bassen-Kornzweig disease | Homozygous familial hypobetalipoproteinaemia | Homozygous familial hypobetalipoproteinemia | Hypolipoproteinaemia, unspecified | abetalipoproteinemia"
BMGC_DS00002,BMG_DS000002,Abnormality of secretion of gastrin | Abnormality of secretion of gastrin (finding) | gastrin secretion abnormality
BMGC_DS00003,BMG_DS000003,"Abortion, Habitual | habitual spontaneous abortion"
BMGC_DS00004,BMG_DS000004,MA - Missed abortion | Missed abortion | Missed abortion (disorder) | Missed miscarriage | Silent miscarriage
BMGC_DS00005,BMG_DS000005,placental abruption
BMGC_DS00006,BMG_DS000006,"Abortion, Veterinary"
BMGC_DS00007,BMG_DS000007,placental abruption
BMGC_DS00008,BMG_DS000008,Abscess | Abscess (disorder) | Abscess (morphologic abnormality) | Abscess morphology | abscess
BMGC_DS00009,BMG_DS000009,Acanthamoeba Keratitis | Acanthamoeba keratitis
BMGC_DS00010,BMG_DS000010,Acanthosis Nigricans | acanthosis nigricans
BMGC_DS00011,BMG_DS000011,achlorhydria
BMGC_DS00012,BMG_DS000012,achondrogenesis
BMGC_DS00013,BMG_DS000013,Achondroplasia | achondroplasia
BMGC_DS00014,BMG_DS000014,acidosis disorder
BMGC_DS00015,BMG_DS000015,"Acidosis, Lactic | acquired lactic acidosis | lactic acidosis"
BMGC_DS00016,BMG_DS000016,RTA - Renal tubular acidosis | Renal tubular acidosis | Renal tubular acidosis (disorder) | Renotubular acidaemia | Renotubular acidemia | renal tubular acidosis
BMGC_DS00017,BMG_DS000017,"Acidosis, Respiratory"
BMGC_DS00018,BMG_DS000018,Acinetobacter Infections | Acinetobacter infectious disease
BMGC_DS00019,BMG_DS000020,Acne Vulgaris
BMGC_DS00020,BMG_DS000022,Vestibulocochlear Nerve Diseases | vestibulocochlear nerve disease | vestibulocochlear nerve disorder
BMGC_DS00021,BMG_DS000024,AIDS | Acquired Immunodeficiency Syndrome | acquired immunodeficiency syndrome
BMGC_DS00022,BMG_DS000025,Apert syndrome
BMGC_DS00023,BMG_DS000026,Acrodermatitis | Acrodermatitis (disorder) | acrodermatitis
BMGC_DS00024,BMG_DS000028,"(Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) (disorder) | Acromegalia | Acromegaly | Acromegaly (disorder) | Acromegaly and gigantism | Anterior pituitary adenoma syndrome | Anterior pituitary hyperfunction | Gigantism | Gigantism and acromegaly | Growth hormone hypersecretion syndrome | Marie disease | Pituitary hyperfunction (ant.) | STH hypersecretion syndrome | acromegaly"
BMGC_DS00025,BMG_DS000029,Acromegalic gigantism | Hypersomatotropic gigantism | Hypersomatotropic gigantism (disorder) | Launois syndrome | Pituitary gigantism
BMGC_DS00026,BMG_DS000030,"ACTH Syndrome, Ectopic | ectopic ACTH secretion syndrome"
BMGC_DS00027,BMG_DS000034,(Actinomycosis (& [infections]) or (erythrasma) | (Actinomycosis (& [infections]) or (erythrasma) (disorder) | Actinomycosis | Actinomycosis (disorder) | Actinomycotic infection | Actinomycotic infection (disorder) | Actinomycotic infections | Erythrasma | actinomycosis
BMGC_DS00028,BMG_DS000035,Abdominal actinomycosis | Abdominal actinomycosis (disorder) | Ray fungus disease of the intestines
BMGC_DS00029,BMG_DS000036,Cervicofacial actinomycosis | Cervicofacial actinomycosis (disorder) | cervicofacial actinomycosis
BMGC_DS00030,BMG_DS000039,Acute alcoholic hepatitis | Acute alcoholic liver disease | Acute alcoholic liver disease (disorder) | alcoholic hepatitis
BMGC_DS00031,BMG_DS000040,Acute and subacute liver necrosis | Acute and subacute liver necrosis (disorder) | hepatitis
BMGC_DS00032,BMG_DS000041,"Acute allergic conjunctivitis | Acute atopic conjunctivitis | Acute atopic conjunctivitis (disorder) | Angelucci syndrome | Angelucci's syndrome | Critical allergic conjunctivitis syndrome | Papillary conjunctivitis, unspecified"
BMGC_DS00033,BMG_DS000043,Acute Disease | acute disease
BMGC_DS00034,BMG_DS000044,Acute laryngitis | Acute laryngitis (disorder) | acute laryngitis
BMGC_DS00035,BMG_DS000045,"Encephalitis, Herpes Simplex | Herpetic Acute Necrotizing Encephalitis"
BMGC_DS00036,BMG_DS000046,"Pancreatitis | Pancreatitis, Acute | acute pancreatitis"
BMGC_DS00037,BMG_DS000047,Acute pericementitis | Acute periodontitis | Acute periodontitis (disorder) | acute pericementitis
BMGC_DS00038,BMG_DS000048,Acute pharyngitis | Acute pharyngitis (disorder) | Pharyngitis - acute | Sore throat | Sore throat NOS | Throat infection - pharyngitis | Throat infection NOS | Throat: [acute pharyngitis] or [infection NOS] or [sore] | Throat: [acute pharyngitis] or [infection NOS] or [sore] (disorder) | Throat: [acute pharyngitis] or [sore NOS (& viral)] or [infection] | Throat: [acute pharyngitis] or [sore NOS (& viral)] or [infection] (disorder) | Viral sore throat NOS | acute pharyngitis | pharyngitis
BMGC_DS00039,BMG_DS000049,Acute thyroiditis | Acute thyroiditis (disorder) | acute thyroiditis
BMGC_DS00040,BMG_DS000051,AMI - Acute mesenteric ischaemia | AMI - Acute mesenteric ischemia | Acute intestinal ischaemia | Acute intestinal ischaemic syndrome | Acute intestinal ischemia | Acute intestinal ischemic syndrome | Acute intestinal vascular insufficiency | Acute mesenteric ischaemia | Acute mesenteric ischemia | Acute vascular insufficiency of intestine | Acute vascular insufficiency of intestine (disorder) | acute intestinal ischemia | acute vascular insufficiency of intestine
BMGC_DS00041,BMG_DS000053,Adams-Stokes Syndrome | Adams-Stokes syndrome
BMGC_DS00042,BMG_DS000054,Addison Disease | Addison's disease | chronic primary adrenal insufficiency
BMGC_DS00043,BMG_DS000055,adenocarcinoma
BMGC_DS00044,BMG_DS000056,papillary adenocarcinoma
BMGC_DS00045,BMG_DS000057,adenofibroma
BMGC_DS00046,BMG_DS000060,adenoma
BMGC_DS00047,BMG_DS000061,basophil adenoma | pituitary gland basophil adenoma
BMGC_DS00048,BMG_DS000062,chromophobe adenoma
BMGC_DS00049,BMG_DS000063,acidophil adenoma | pituitary gland acidophil adenoma
BMGC_DS00050,BMG_DS000064,adenosarcoma
BMGC_DS00051,BMG_DS000065,disease by infectious agent
BMGC_DS00052,BMG_DS000068,Adie Syndrome | Adie syndrome | Holmes-Adie syndrome
BMGC_DS00053,BMG_DS000069,Adiposis Dolorosa | adiposis dolorosa
BMGC_DS00054,BMG_DS000073,Adrenal Cortex Diseases | adrenal cortex disease | adrenal cortex disorder
BMGC_DS00055,BMG_DS000074,adrenal cortex cancer | adrenal cortex neoplasm
BMGC_DS00056,BMG_DS000075,Adrenal Gland Diseases | adrenal gland disease
BMGC_DS00057,BMG_DS000076,Adrenal Gland Hyperfunction | Adrenocortical Hyperfunction | adrenal gland hyperfunction
BMGC_DS00058,BMG_DS000077,adrenal gland cancer | adrenal gland neoplasm
BMGC_DS00059,BMG_DS000078,CAH - Congenital adrenal hyperplasia | Congenital adrenal cortical hyperplasia | Congenital adrenal cortical hyperplasia (disorder) | Congenital adrenal hyperplasia | Congenital adrenal hyperplasia (disorder) | Congenital adrenogenital syndrome | congenital adrenal hyperplasia
BMGC_DS00060,BMG_DS000081,Afferent Loop Syndrome | afferent loop syndrome
BMGC_DS00061,BMG_DS000082,Afibrinogenaemia | Afibrinogenemia | Afibrinogenemia (disorder) | congenital afibrinogenemia
BMGC_DS00062,BMG_DS000085,(Deficiencies of humoral immunity) or (agammaglobulinaemia) | (Deficiencies of humoral immunity) or (agammaglobulinemia) | (Deficiencies of humoral immunity) or (agammaglobulinemia) (disorder) | A/Hypo-gammaglobulinaemia | Agammaglobulinaemia | Agammaglobulinaemia &/or hypo-gammaglobulinaemia | Agammaglobulinaemia &/or hypo-gammaglobulinaemia (disorder) | Agammaglobulinemia | Agammaglobulinemia &/or hypo-gammaglobulinemia | Agammaglobulinemia (disorder) | Agammaglobulinemia (finding) | Deficiencies of humoral immunity | agammaglobulinemia
BMGC_DS00063,BMG_DS000086,"Osteoporosis | Osteoporosis, Age-Related"
BMGC_DS00064,BMG_DS000087,myelofibrosis | primary myelofibrosis
BMGC_DS00065,BMG_DS000088,agnosia
BMGC_DS00066,BMG_DS000089,agoraphobia
BMGC_DS00067,BMG_DS000090,(Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) | (Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) (disorder) | Agranulocytosis | Agranulocytosis (disorder) | Agranulocytosis (finding) | Kostmann's syndrome | Neutropenia | Schultz disease | agranulocytosis
BMGC_DS00068,BMG_DS000092,Agricultural Workers' Diseases
BMGC_DS00069,BMG_DS000093,AIDS Dementia Complex | AIDS dementia complex
BMGC_DS00070,BMG_DS000095,Ainhum | Ainhum (disorder) | Ainhum - dactylolysis spontanea | Dactylolysis spontanea | Fibrous bands | Fibrous bands (morphologic abnormality) | Other specified disorders of cutaneous connective tissue | ainhum
BMGC_DS00071,BMG_DS000096,Airsickness | Motion Sickness | Motion sickness
BMGC_DS00072,BMG_DS000097,Airway Obstruction | obstructive lung disease
BMGC_DS00073,BMG_DS000098,Akinetic Mutism | akinetic mutism
BMGC_DS00074,BMG_DS000099,"Akinetic Petit Mal | Epilepsy, Absence | absence epilepsy"
BMGC_DS00075,BMG_DS000100,Smallpox | Variola Minor | variola minor | variola minor infection
BMGC_DS00076,BMG_DS000101,"(Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (disorder) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease) | Albinism | Albinism (& [Klein-Waardenberg's syndrome]) | Albinism (& [Klein-Waardenberg's syndrome]) (disorder) | Albinism (disorder) | Albinismus | Albino | Cystinuria | Disorder of amino acid metabolism: [other aromatic] or [albinism] | Disorder of amino acid metabolism: [other aromatic] or [albinism] (disorder) | Galactosaemia | Galactosemia | Glucose-6-phosph.dehydr.defic. | Glucose-6-phosphate dehydrogenase deficiency | Glycogen storage disease | Griscelli syndrome | Inborn errors of amino acid or other organic acid metabolism, unspecified | Klein-Waardenberg's syndrome | Other amino-acid/carbohydrate | Other disturbances of aromatic amino-acid metabolism | Von Gierke's disease | Waardenburg syndrome type 3 | albinism | ocular albinism with sensorineural deafness | von Gierke disease"
BMGC_DS00077,BMG_DS000103,Alcohol Withdrawal Delirium | alcohol withdrawal delirium
BMGC_DS00078,BMG_DS000104,alcohol dependence
BMGC_DS00079,BMG_DS000105,"Aleutian Mink Disease | aleutian mink disease | aleutian mink disease, human"
BMGC_DS00080,BMG_DS000106,alexia
BMGC_DS00081,BMG_DS000107,alexithymia
BMGC_DS00082,BMG_DS000108,Alkalosis | Alkalosis (disorder)
BMGC_DS00083,BMG_DS000109,"Alkaptonuria | Alkaptonuria (disorder) | Alkaptonuria (finding) | Deficiency of homogentisate 1,2-dioxygenase | Deficiency of homogentisate oxygenase | Deficiency of homogentisicase | HGD-gene related homogentisate 1,2-dioxygenase deficiency | Hereditary ochronosis | Homogentisate 1,2-dioxygenase deficiency | Homogentisate 1,2-dioxygenase deficiency (disorder) | Homogentisic acid defect | Homogentisic acid defect (& alkaptonuria) | Homogentisic acid defect (& alkaptonuria) (disorder) | Homogentisic acid oxidase deficiency | Homogentisicaciduria | alkaptonuria"
BMGC_DS00084,BMG_DS000111,Atopic rhinitis | Atopic rhinitis (disorder) | allergic rhinitis
BMGC_DS00085,BMG_DS000114,(Alopecia) or (thinning of hair) | (Alopecia) or (thinning of hair) (disorder) | Alopecia | Alopecia (disorder) | Bald | Baldness | Hair loss disorder | Thinning of hair | alopecia
BMGC_DS00086,BMG_DS000115,Alopecia Areata | alopecia areata
BMGC_DS00087,BMG_DS000116,"Mucinosis, Follicular | alopecia mucinosa | follicular mucinosis"
BMGC_DS00088,BMG_DS000123,alpha thalassemia | alpha thalassemia spectrum | alpha-Thalassemia
BMGC_DS00089,BMG_DS000124,Altitude Sickness | altitude sickness
BMGC_DS00090,BMG_DS000125,Alveolar Bone Loss
BMGC_DS00091,BMG_DS000126,"(Extrinsic allergic alveolitis) or (farmers' lung) or (pneumonitis, allergic NOS) | Allergic alveolitis | Allergic interstitial pneumonitis | Allergic pneumonitis | Alveolitis - allergic | Bagpipe lung | EAA - Extrinsic allergic alveolitis | Extrinsic allergic alveolitis | Extrinsic allergic bronchiolo-alveolitis | Farmers lung | Farmers' lung | Hypersensitivity pneumonitis | Hypersensitivity pneumonitis (disorder) | Pneumonitis, allergic NOS | extrinsic allergic alveolitis | hypersensitivity pneumonitis"
BMGC_DS00092,BMG_DS000127,Alzheimer Disease | Alzheimer disease | Alzheimer's Disease | Alzheimer's disease
BMGC_DS00093,BMG_DS000128,(Visual disturbances NOS) or (amblyopia) or (blurred vision) | (Visual disturbances NOS) or (amblyopia) or (blurred vision) (disorder) | Amblyopia | Amblyopia (disorder) | Amblyopic | Blurred vision | Congenital amblyopia | Functional amblyopia | Visual disturbances NOS | amblyopia
BMGC_DS00094,BMG_DS000129,Tobacco amblyopia | Tobacco amblyopia (disorder)
BMGC_DS00095,BMG_DS000130,Amebiasis | Amebiasis (disorder) | Amebic dysentery | Amebic dysentery (disorder) | Amebic infection | Amebic infection (disorder) | Amoebiasis | Amoebiasis (disorder) | Amoebic dysentery | Amoebic infection | Entamoeba histolytica infection | Infection caused by Entamoeba histolytica | Infection caused by Entamoeba histolytica (disorder) | amebiasis
BMGC_DS00096,BMG_DS000134,ameloblastoma
BMGC_DS00097,BMG_DS000135,amelogenesis imperfecta
BMGC_DS00098,BMG_DS000136,amenorrhea
BMGC_DS00099,BMG_DS000137,"Amino Acid Metabolism, Inborn Errors | amino acid metabolic disorder"
BMGC_DS00100,BMG_DS000138,Renal Aminoacidurias | renal aminoaciduria
BMGC_DS00101,BMG_DS000139,amnestic disorder
BMGC_DS00102,BMG_DS000140,retrograde amnesia
BMGC_DS00103,BMG_DS000141,amnestic disorder
BMGC_DS00104,BMG_DS000142,Amnionitis | Amniotic cavity infection | Infection of amniotic cavity | Infection of amniotic cavity (disorder) | amnionitis
BMGC_DS00105,BMG_DS000145,Amyloidosis | Amyloidosis (disorder) | amyloidosis
BMGC_DS00106,BMG_DS000146,Neuromuscular Diseases | Oppenheim's Disease | amyotonia congenita
BMGC_DS00107,BMG_DS000147,Amyotrophic Lateral Sclerosis | amyotrophic lateral sclerosis
BMGC_DS00108,BMG_DS000148,anal gland neoplasm
BMGC_DS00109,BMG_DS000149,"Congenital Pain Insensitivity | Pain Insensitivity, Congenital | hereditary sensory and autonomic neuropathy type 5"
BMGC_DS00110,BMG_DS000152,Ancylostomiasis | Ancylostomiasis (disorder) | Ancylostomiasis due to Ancylostoma duodenale | Ancylostomosis | Hookworm diseases | Hookworm infection | Infection by Uncinaria | Infection by Uncinaria (disorder) | Uncinariasis | Uncinariosis | ancylostomiasis
BMGC_DS00111,BMG_DS000153,Absolute anaemia | Absolute anemia | Anaemia | Anaemia (disorder) | Anemia | Anemia (disorder) | anemia
BMGC_DS00112,BMG_DS000155,"Anemia, Aplastic | Aplastic Anemia | aplastic anemia"
BMGC_DS00113,BMG_DS000156,Beta thalassaemia | Beta thalassaemia major | Cooley's anaemia | Cooley's anemia | Homozygous beta thalassaemia | Homozygous beta thalassemia | Homozygous beta thalassemia (disorder) | Mediterranean anemia | beta-thalassemia major
BMGC_DS00114,BMG_DS000157,CDA - congenital dyserythropoietic anaemia | CDA - congenital dyserythropoietic anemia | Congenital anaemia: [dyshaematopoietic] or [dyserythropoietic (& NEC)] | Congenital anaemia: [dyshaematopoietic] or [dyserythropoietic (& NEC)] (disorder) | Congenital anemia: [dyshematopoietic] or [dyserythropoietic (& NEC)] | Congenital dyserythropoiesis NEC | Congenital dyserythropoietic anaemia | Congenital dyserythropoietic anemia | Congenital dyserythropoietic anemia (disorder) | Congenital dyshaematopoietic anaemia | Congenital dyshematopoietic anemia | congenital dyserythropoietic anemia
BMGC_DS00115,BMG_DS000158,"Anemia, Hemolytic | hemolytic anemia"
BMGC_DS00116,BMG_DS000159,"Anemia, Hemolytic | Anemia, Hemolytic, Acquired"
BMGC_DS00117,BMG_DS000160,AIHA - Autoimmune haemolytic anaemia | AIHA - Autoimmune hemolytic anemia | Autoimmune haemolytic anaemia | Autoimmune haemolytic anaemia (disorder) | Autoimmune hemolytic anemia | Autoimmune hemolytic anemia (disorder) | Haemolytic anaemia due to antibody | Hemolytic anemia due to antibody | Neonatal isoerythrolysis | autoimmune hemolytic anemia
BMGC_DS00118,BMG_DS000161,"Anemia, Hemolytic, Congenital | congenital hemolytic anemia | familial hemolytic anemia"
BMGC_DS00119,BMG_DS000162,"Anemia, Hemolytic, Congenital Nonspherocytic | congenital nonspherocytic hemolytic anemia"
BMGC_DS00120,BMG_DS000163,"Anemia, Hemolytic, Autoimmune | Anemia, Hemolytic, Idiopathic Acquired"
BMGC_DS00121,BMG_DS000164,Hypochromic anaemia | Hypochromic anemia | Normocytic hypochromic anaemia | Normocytic hypochromic anemia | Normocytic hypochromic anemia (disorder) | hypochromic anemia
BMGC_DS00122,BMG_DS000165,"Anemia, Macrocytic | macrocytic anemia"
BMGC_DS00123,BMG_DS000166,"Anemia, Megaloblastic | megaloblastic anemia"
BMGC_DS00124,BMG_DS000167,"Anemia, Hemolytic | Anemia, Microangiopathic"
BMGC_DS00125,BMG_DS000168,"Anemia, Myelophthisic | Leukoerythroblastic Anemia | myelophthisic anemia"
BMGC_DS00126,BMG_DS000169,"Anemia, Neonatal | neonatal anemia"
BMGC_DS00127,BMG_DS000170,"Anemia, Pernicious | pernicious anemia"
BMGC_DS00128,BMG_DS000172,"Anemia, Sickle Cell | sickle cell anemia"
BMGC_DS00129,BMG_DS000173,Primary sideroblastic anaemia | Primary sideroblastic anemia | Refractory sideroblastic anaemia | Refractory sideroblastic anemia | Sideroachrestic anaemia | Sideroachrestic anemia | Sideroblastic anaemia | Sideroblastic anaemia (disorder) | Sideroblastic anemia | Sideroblastic anemia (disorder) | sideroblastic anemia
BMGC_DS00130,BMG_DS000174,"Anemia, Splenic | Hypersplenism"
BMGC_DS00131,BMG_DS000175,anencephaly
BMGC_DS00132,BMG_DS000176,aneuploidy
BMGC_DS00133,BMG_DS000177,vascular disease
BMGC_DS00134,BMG_DS000178,"Arterial Dissection | Dissection, Blood Vessel"
BMGC_DS00135,BMG_DS000181,"Angina Pectoris, Variant | Prinzmetal angina"
BMGC_DS00136,BMG_DS000182,"Angina, Unstable | intermediate coronary syndrome"
BMGC_DS00137,BMG_DS000183,Angioid Streaks | angioid streaks
BMGC_DS00138,BMG_DS000184,Angioid streaks of choroid | Angioid streaks of choroid (disorder) | angioid streaks of choroid
BMGC_DS00139,BMG_DS000185,angiokeratoma
BMGC_DS00140,BMG_DS000186,Fabry Disease | Fabry disease
BMGC_DS00141,BMG_DS000187,skin epithelioid hemangioma
BMGC_DS00142,BMG_DS000188,cutaneous fibrous histiocytoma
BMGC_DS00143,BMG_DS000190,angioedema
BMGC_DS00144,BMG_DS000191,"(Anhidrosis) or (hypohidrosis) or (oligohidrosis) | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) (disorder) | Anhidrosis | Anhidrosis (disorder) | Hypohidrosis | Hypohidrosis, unspecified | Oligohidrosis | anhidrosis | obsolete hypohidrosis"
BMGC_DS00145,BMG_DS000193,aniridia
BMGC_DS00146,BMG_DS000196,Anisometropia | Anisometropia (disorder) | anisometropia
BMGC_DS00147,BMG_DS000197,autoimmune disease
BMGC_DS00148,BMG_DS000198,ankylosis
BMGC_DS00149,BMG_DS000201,nominal aphasia
BMGC_DS00150,BMG_DS000202,Anorexia
BMGC_DS00151,BMG_DS000203,anorexia nervosa
BMGC_DS00152,BMG_DS000204,anosmia
BMGC_DS00153,BMG_DS000205,Anovulation | Anovulation (finding) | Ovulation absent | anovulation
BMGC_DS00154,BMG_DS000206,Anterior Compartment Syndrome | anterior compartment of tibia syndrome | anterior compartment syndrome
BMGC_DS00155,BMG_DS000207,Anthracosilicosis | Anthracosilicosis (disorder) | anthracosilicosis
BMGC_DS00156,BMG_DS000208,Anthracosis | Black lung disease | Coal miners' lung | Coal miners' pneumoconiosis | Coal pneumoconiosis | Coal workers' lung | Coal workers' pneumoconiosis | Coal workers' pneumoconiosis (disorder) | Colliers' anthracosis | Colliers' lung | Lung melanosis | Melanedema | Melanoedema | Miners' asthma | Miners' lung | Pneumomelanosis | anthracosis
BMGC_DS00157,BMG_DS000209,anthrax disease | anthrax infection
BMGC_DS00158,BMG_DS000210,Anthrax | Cutaneous anthrax | Cutaneous anthrax (disorder) | Malignant pustule | cutaneous anthrax
BMGC_DS00159,BMG_DS000211,Antibody Deficiency Syndrome | Immunologic Deficiency Syndromes
BMGC_DS00160,BMG_DS000212,antisocial personality disorder
BMGC_DS00161,BMG_DS000213,Anuria | Anuria (finding) | Passes no urine | anuria
BMGC_DS00162,BMG_DS000214,Anus Diseases | anus disease | anus disorder
BMGC_DS00163,BMG_DS000215,anus benign neoplasm | anus neoplasm
BMGC_DS00164,BMG_DS000216,imperforate anus
BMGC_DS00165,BMG_DS000217,anxiety
BMGC_DS00166,BMG_DS000218,anxiety disorder
BMGC_DS00167,BMG_DS000219,separation anxiety disorder
BMGC_DS00168,BMG_DS000220,Aortic Aneurysm | aortic aneurysm
BMGC_DS00169,BMG_DS000221,Aortic Arch Syndromes | Takayasu's arteritis
BMGC_DS00170,BMG_DS000222,aorta coarctation
BMGC_DS00171,BMG_DS000223,Aortic Diseases | aortic disease | aortic disorder
BMGC_DS00172,BMG_DS000224,Aortic Rupture
BMGC_DS00173,BMG_DS000225,Congenital supravalvar aortic stenosis | Supravalvular aortic stenosis | supravalvular aortic stenosis
BMGC_DS00174,BMG_DS000227,Aortic Valve Insufficiency | aortic valve insufficiency
BMGC_DS00175,BMG_DS000228,Aortic Valve Prolapse | aortic valve prolapse
BMGC_DS00176,BMG_DS000229,aortic valve stenosis
BMGC_DS00177,BMG_DS000230,(Arteritis unspecified) or (aortitis) | (Arteritis unspecified) or (aortitis) (disorder) | Aortitis | Aortitis (disorder) | Arteritis unspecified | aortitis
BMGC_DS00178,BMG_DS000231,Aortitis Syndrome | Takayasu Arteritis
BMGC_DS00179,BMG_DS000234,aphasia
BMGC_DS00180,BMG_DS000235,appendiceal neoplasm
BMGC_DS00181,BMG_DS000236,Appendicitis | Appendicitis (disorder) | appendicitis
BMGC_DS00182,BMG_DS000237,apraxia
BMGC_DS00183,BMG_DS000238,Arachnoiditis | Arachnoiditis (disorder) | Other meningitis NOS | Other meningitis NOS &/or arachnoiditis | Other meningitis NOS &/or arachnoiditis (disorder) | arachnoiditis
BMGC_DS00184,BMG_DS000240,Arbovirus Infections | arbovirus infection | viral infectious disease
BMGC_DS00185,BMG_DS000241,Arcus Senilis | arcus senilis
BMGC_DS00186,BMG_DS000242,Arenaviridae Infections | Arenaviridae infectious disease
BMGC_DS00187,BMG_DS000243,Chiari malformation
BMGC_DS00188,BMG_DS000245,"Arrhythmias, Cardiac | Cardiac Arrhythmia | cardiac rhythm disease"
BMGC_DS00189,BMG_DS000247,Arterial Occlusive Diseases | peripheral vascular disease
BMGC_DS00190,BMG_DS000249,AS - Atherosclerosis | Arteriosclerosis | Arteriosclerosis (morphologic abnormality) | Atherosclerosis | Atherosclerosis (disorder) | Atherosclerotic cardiovascular disease | arteriosclerosis | arteriosclerosis disorder
BMGC_DS00191,BMG_DS000250,Arteriosclerosis Obliterans | arteriosclerosis obliterans
BMGC_DS00192,BMG_DS000251,arteritis
BMGC_DS00193,BMG_DS000253,(Arthropathy NOS) or (arthritis) | (Arthropathy NOS) or (arthritis) (disorder) | Arthritis | Arthritis (disorder) | Arthritis (finding) | Arthropathy NOS | Inflammatory arthritis | arthritic joint disease | arthritis
BMGC_DS00194,BMG_DS000254,"Arthritis, Gouty | gout"
BMGC_DS00195,BMG_DS000255,"Arthritis, Infectious | infective arthritis | septic arthritis"
BMGC_DS00196,BMG_DS000256,"Arthritis, Psoriatic | psoriatic arthritis"
BMGC_DS00197,BMG_DS000257,"Arthritis, Rheumatoid | Rheumatoid Arthritis | rheumatoid arthritis"
BMGC_DS00198,BMG_DS000259,"Arthritis, Infectious | Arthritis, Viral"
BMGC_DS00199,BMG_DS000261,neurogenic arthropathy
BMGC_DS00200,BMG_DS000262,Arthus Reaction | arthus reaction
BMGC_DS00201,BMG_DS000263,articulation disorder
BMGC_DS00202,BMG_DS000264,(Asbestosis) or (byssinosis) or (pleural plaque disease) | (Asbestosis) or (byssinosis) or (pleural plaque disease) (disorder) | Amianthosis | Asbestos pneumoconiosis | Asbestosis | Asbestosis (disorder) | Byssinosis | Pleural plaque disease | Pulmonary asbestosis | asbestosis
BMGC_DS00203,BMG_DS000265,Ascariasis | Ascariasis (disorder) | Ascariasis - roundworms | Ascaridiasis | Ascariosis | ascariasis
BMGC_DS00204,BMG_DS000266,Ascariasis | Ascariasis (disorder) | Ascariasis - roundworms | Ascaridiasis | Ascariosis | ascaridiasis
BMGC_DS00205,BMG_DS000267,Abdominal dropsy | Ascites | Ascites (disorder) | Ascitic fluid | Hydroperitoneum | Hydroperitonia | Hydrops abdominis | Peritoneal dropsy
BMGC_DS00206,BMG_DS000268,Ascorbic Acid Deficiency
BMGC_DS00207,BMG_DS000269,osteonecrosis
BMGC_DS00208,BMG_DS000270,Aspergillosis | Aspergillosis (disorder) | Coccidioidomycosis | Histoplasmosis | Infection due to Aspergillus | Mycoses - other | Other mycoses | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Piedra | Sporotrichosis | aspergillosis
BMGC_DS00209,BMG_DS000271,"Aspergillosis, Allergic Bronchopulmonary | allergic bronchopulmonary aspergillosis"
BMGC_DS00210,BMG_DS000273,Asphyxia Neonatorum | asphyxia neonatorum | perinatal asphyxia
BMGC_DS00211,BMG_DS000277,Airway hyperreactivity | Allergic bronchitis | Asthma | Asthma (disorder) | Asthmatic | Asthmatic bronchitis | Asthmatic bronchitis (disorder) | BHR - Bronchial hyperreactivity | Bronchial asthma | Bronchial hyperreactivity | Bronchial hyperresponsiveness | Bronchial hypersensitivity | Hyperreactive airway disease | Wheezy bronchitis | asthma
BMGC_DS00212,BMG_DS000279,Astigmatism | Astigmatism (disorder) | astigmatism
BMGC_DS00213,BMG_DS000280,astrocytoma (excluding glioblastoma) | malignant astrocytoma
BMGC_DS00214,BMG_DS000281,Ataxia Telangiectasia | ataxia telangiectasia
BMGC_DS00215,BMG_DS000282,"Ataxias, Hereditary | Spinocerebellar Degenerations | hereditary ataxia"
BMGC_DS00216,BMG_DS000283,AS - Atherosclerosis | Arteriosclerosis | Arteriosclerosis NOS | Atheromatosis | Atherosclerosis | Atherosclerosis (& [NOS]) | Atherosclerosis (& [NOS]) (disorder) | Atherosclerosis (disorder) | Atherosclerosis (morphologic abnormality) | Atherosclerotic cardiovascular disease | arteriosclerotic cardiovascular disease | atherosclerosis
BMGC_DS00217,BMG_DS000285,Athetosis | Athetosis (disorder)
BMGC_DS00218,BMG_DS000288,Atrial Fibrillation | atrial fibrillation
BMGC_DS00219,BMG_DS000289,atrial flutter
BMGC_DS00220,BMG_DS000290,Atrioventricular Block | atrioventricular block
BMGC_DS00221,BMG_DS000293,atrioventricular dissociation
BMGC_DS00222,BMG_DS000294,autism | autistic disorder
BMGC_DS00223,BMG_DS000295,Autoimmune Diseases | autoimmune disease
BMGC_DS00224,BMG_DS000296,avoidant personality disorder
BMGC_DS00225,BMG_DS000298,(Azoospermia) or (Young's syndrome) | (Azoospermia) or (Young's syndrome) (disorder) | Azoospermatism | Azoospermia | Azoospermia (disorder) | Azoospermia (finding) | Azoospermia disorder | Azoospermia disorder (disorder) | Sperm absent | Sperm absent - azoospermia | Young's syndrome | azoospermia
BMGC_DS00226,BMG_DS000299,Babesiasis | Babesiosis | Babesiosis (disorder) | Infection by Babesia | Piroplasmosis | Red water fever | babesiosis
BMGC_DS00227,BMG_DS000300,BDR - Background diabetic retinopathy | Background diabetic retinopathy | NPDR - Non proliferative diabetic retinopathy | Non proliferative diabetic retinopathy | Nonproliferative diabetic retinopathy | Nonproliferative retinopathy due to diabetes mellitus | Nonproliferative retinopathy due to diabetes mellitus (disorder) | background diabetic retinopathy
BMGC_DS00228,BMG_DS000301,exudative vitreoretinopathy
BMGC_DS00229,BMG_DS000302,bacterial infectious disease with sepsis
BMGC_DS00230,BMG_DS000305,Bacterial Infections | bacterial infectious disease
BMGC_DS00231,BMG_DS000306,"Pneumonia, Bacterial | bacterial pneumonia"
BMGC_DS00232,BMG_DS000307,bacteriuria
BMGC_DS00233,BMG_DS000309,Bagasse disease | Bagasse workers' disease | Bagasse workers' lung | Bagassosis | Bagassosis (disorder) | Pneumoconiosis | Sugar cane workers' hypersensitivity pneumonitis | bagassosis
BMGC_DS00234,BMG_DS000310,"(Balanitis) or (balanoposthitis) | (Balanitis) or (balanoposthitis) (disorder) | Balanitis | Balanitis (disorder) | Balanoposthitis | Balanoposthitis, unspecified | balanitis"
BMGC_DS00235,BMG_DS000311,(Balanitis) or (balanoposthitis) | (Balanitis) or (balanoposthitis) (disorder) | Balanitis | Balanoposthitis | Balanoposthitis (disorder) | balanoposthitis
BMGC_DS00236,BMG_DS000312,Balantidial dysentery | Balantidiasis | Balantidiasis (disorder) | Balantidiosis | Infections due to Balantidium coli | balantidiasis
BMGC_DS00237,BMG_DS000313,Balkan Nephropathy | Balkan nephropathy
BMGC_DS00238,BMG_DS000314,Balo concentric sclerosis | Balo's Concentric Sclerosis | Diffuse Cerebral Sclerosis of Schilder
BMGC_DS00239,BMG_DS000316,Barrett Esophagus | Barrett esophagus | Barrett's esophagus
BMGC_DS00240,BMG_DS000317,Bartholin duct cyst | Bartholin's cyst | Bartholin's duct cyst | Bartholin's gland cyst | Bartholin's gland duct cyst | Cyst of Bartholin gland duct | Cyst of Bartholin's gland | Cyst of Bartholin's gland duct | Cyst of Bartholin's gland duct (disorder)
BMGC_DS00241,BMG_DS000319,Bartonella Infections | bartonellosis
BMGC_DS00242,BMG_DS000321,Bartter Disease | Bartter Syndrome | Bartter disease | Bartter syndrome
BMGC_DS00243,BMG_DS000322,nevoid basal cell carcinoma syndrome
BMGC_DS00244,BMG_DS000323,Basal Ganglia Diseases | basal ganglia disease
BMGC_DS00245,BMG_DS000324,Basilar Artery Insufficiency | Vertebrobasilar Insufficiency | basilar artery insufficiency
BMGC_DS00246,BMG_DS000326,Beckwith-Wiedemann Syndrome | Beckwith-Wiedemann syndrome
BMGC_DS00247,BMG_DS000327,disease of mental health | mental disorder
BMGC_DS00248,BMG_DS000328,Behcet Syndrome | Behcet disease | Behcet's disease
BMGC_DS00249,BMG_DS000329,Bejel | Bejel (disorder) | Njovera | Nonvenereal endemic syphilis | Nonvenereal endemic syphilis (& [Bejel] or [Njovera]) | Nonvenereal endemic syphilis (& [Bejel] or [Njovera]) (disorder) | Treponema infectious disease | Treponemal Infections | bejel
BMGC_DS00250,BMG_DS000330,benign colon neoplasm
BMGC_DS00251,BMG_DS000334,"Aneurin deficiency | Beri-beri | Beriberi | Beriberi (disorder) | Beriberi, unspecified | Chastek's paralysis | Pellagra | Thiamin deficiency | Thiamin deficiency (disorder) | Thiamine deficiency | Thiamine/niacin deficiency | Vitamin B1 deficiency | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] (disorder) | beriberi"
BMGC_DS00252,BMG_DS000335,Bernard-Soulier Syndrome | Bernard-Soulier syndrome
BMGC_DS00253,BMG_DS000337,berylliosis
BMGC_DS00254,BMG_DS000339,Beta thalassaemia | Beta thalassaemia syndrome | Beta thalassemia | Beta thalassemia (disorder) | Beta thalassemia syndrome | beta Thalassemia | beta thalassaemia | beta thalassemia | beta-Thalassemia
BMGC_DS00255,BMG_DS000340,Bile Duct Diseases | bile duct disease | bile duct disorder
BMGC_DS00256,BMG_DS000341,bile duct cancer | bile duct neoplasm
BMGC_DS00257,BMG_DS000342,"Cholestasis, Extrahepatic | extrahepatic cholestasis"
BMGC_DS00258,BMG_DS000343,Bile Reflux | bile reflux
BMGC_DS00259,BMG_DS000344,biliary atresia
BMGC_DS00260,BMG_DS000345,Biliary Dyskinesia | biliary dyskinesia
BMGC_DS00261,BMG_DS000346,Biliary Tract Diseases | biliary tract disease
BMGC_DS00262,BMG_DS000347,biliary tract cancer | biliary tract neoplasm
BMGC_DS00263,BMG_DS000349,Binocular vision disorder | Binocular vision disorder (disorder) | binocular vision disease
BMGC_DS00264,BMG_DS000350,bipolar disorder
BMGC_DS00265,BMG_DS000351,bipolar depression | bipolar disorder
BMGC_DS00266,BMG_DS000352,Bird Diseases | bird disease
BMGC_DS00267,BMG_DS000353,Bird Fancier's Lung | bird fancier's lung
BMGC_DS00268,BMG_DS000354,Blackwater Fever | blackwater fever
BMGC_DS00269,BMG_DS000355,Bladder calculus | Bladder stone | Calculus of bladder | Urinary bladder stone | Urinary bladder stone (disorder) | Vesical calculus | Vesicolithiasis | bladder calculus
BMGC_DS00270,BMG_DS000356,urinary bladder cancer
BMGC_DS00271,BMG_DS000357,Urinary Bladder Diseases | bladder disease | urinary bladder disorder
BMGC_DS00272,BMG_DS000358,Bladder Exstrophy | bladder exstrophy
BMGC_DS00273,BMG_DS000359,Acquired bladder neck obstruction | BNO - Bladder neck obstruction | BNO - bladder neck obstruction | BOO - Bladder outflow obstruction | Bladder neck obstruction | Bladder neck obstruction (& [contracture] or [stenosis] or [bladder outflow obstruction]) | Bladder neck obstruction (& [contracture] or [stenosis] or [bladder outflow obstruction]) (disorder) | Bladder neck obstruction (disorder) | Contracture of bladder neck | Obstruction of neck of urinary bladder | Obstruction of neck of urinary bladder (disorder) | Stenosis of bladder neck | Vesicourethral orifice obstruction | bladder neck obstruction
BMGC_DS00274,BMG_DS000360,urinary bladder cancer | urinary bladder neoplasm
BMGC_DS00275,BMG_DS000361,"Neurogenic Urinary Bladder | Urinary Bladder, Neurogenic | neurogenic bladder | obsolete neurogenic bladder"
BMGC_DS00276,BMG_DS000362,"blast phase chronic myelogenous leukemia, BCR-ABL1 positive"
BMGC_DS00277,BMG_DS000363,(Other dermatophytosis) or (blastomycosis) | (Other dermatophytosis) or (blastomycosis) (disorder) | Blastomycosis | Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) | Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) (disorder) | Blastomycosis (disorder) | Blastomycotic infection | Chicago disease | Gilchrist's disease | Infection by Blastomyces | North American blastomycosis | Other dermatophytosis | blastomycosis
BMGC_DS00278,BMG_DS000364,Blastomycosis | Gilchrist Disease
BMGC_DS00279,BMG_DS000369,Blepharitis | Blepharitis (& [cellulitis of eyelids]) | Blepharitis (& [cellulitis of eyelids]) (disorder) | Blepharitis (disorder) | Cellulitis of eyelids | Infectious blepharitis | Inflammation of lid margin | Marginal blepharitis | blepharitis
BMGC_DS00280,BMG_DS000370,(Blepharochalasis) or (pseudoptosis) | (Blepharochalasis) or (pseudoptosis) (disorder) | Blepharochalasis | Blepharochalasis (disorder) | Dermatolysis palpebrarum | Fuchs' syndrome II | Pseudoptosis | blepharochalasis
BMGC_DS00281,BMG_DS000371,Blepharoconjunctivitis | Blepharoconjunctivitis (disorder) | blepharoconjunctivitis
BMGC_DS00282,BMG_DS000372,blepharophimosis
BMGC_DS00283,BMG_DS000373,(Congenital ptosis) or (blepharoptosis) | (Congenital ptosis) or (blepharoptosis) (disorder) | Blepharoptosis | Congenital ptosis | Drooping eyelid | Droopy eyelid | Ptosis | Ptosis eyelid | Ptosis of eyelid | Ptosis of eyelid (disorder) | ptosis
BMGC_DS00284,BMG_DS000374,(Extrapyramidal disease NOS) or (blepharospasm) or (choreo-athetosis) or (writer's cramp - organic) or (myoclonic jerks) or (spasmodic torticollis) | (Extrapyramidal disease NOS) or (blepharospasm) or (choreo-athetosis) or (writer's cramp - organic) or (myoclonic jerks) or (spasmodic torticollis) (disorder) | Benign essential blepharospasm | Blepharospasm | Blepharospasm (disorder) | Blepharospasm (spasm of eyelid) | Choreo-athetosis | Essential blepharospasm | Extrapyramidal disease NOS | Jerks - myoclonic | Myoclonic jerks | Organic restless legs | Organic writers' cramp | Restless legs - organic | Spasm of eyelids | Spasmodic torticollis | Writer's cramp -organic | Writer's cramp-organic | blepharospasm
BMGC_DS00285,BMG_DS000375,Blind Loop Syndrome | blind loop syndrome
BMGC_DS00286,BMG_DS000376,Blood Coagulation Disorders | blood coagulation disease
BMGC_DS00287,BMG_DS000377,blood group incompatibility
BMGC_DS00288,BMG_DS000378,"Blood Platelet Disorders | blood platelet disease | inherited bleeding disorder, platelet-type"
BMGC_DS00289,BMG_DS000379,Blood Protein Disorders | blood protein disease | obsolete blood protein disease
BMGC_DS00290,BMG_DS000380,Bloom Syndrome | Bloom syndrome
BMGC_DS00291,BMG_DS000383,Bone Diseases | bone disease | bone disorder
BMGC_DS00292,BMG_DS000384,"Bone Diseases, Developmental | bone development disease"
BMGC_DS00293,BMG_DS000385,"Bone Diseases, Endocrine"
BMGC_DS00294,BMG_DS000387,metabolic bone disorder
BMGC_DS00295,BMG_DS000388,Bone Marrow Diseases | bone marrow disease
BMGC_DS00296,BMG_DS000389,bone cancer
BMGC_DS00297,BMG_DS000390,bone resorption disease
BMGC_DS00298,BMG_DS000392,borderline personality disorder
BMGC_DS00299,BMG_DS000393,Bordetella Infections | bordetellosis | pertussis
BMGC_DS00300,BMG_DS000394,Borna Disease | borna disease
BMGC_DS00301,BMG_DS000397,botulism
BMGC_DS00302,BMG_DS000398,Boutonneuse Fever | boutonneuse fever
BMGC_DS00303,BMG_DS000400,Bowen disease of the skin
BMGC_DS00304,BMG_DS000401,BPN - Brachial plexus neuropathy | Brachial plexus disorder | Brachial plexus disorder (disorder) | Brachial plexus lesion | Brachial plexus neuropathy | brachial plexus lesion | brachial plexus neuropathy from injury
BMGC_DS00305,BMG_DS000402,Brain Abscess
BMGC_DS00306,BMG_DS000403,"Brain Damage, Chronic"
BMGC_DS00307,BMG_DS000404,Brain Diseases | brain disease | brain disorder
BMGC_DS00308,BMG_DS000405,"Brain Diseases, Metabolic"
BMGC_DS00309,BMG_DS000406,brain edema
BMGC_DS00310,BMG_DS000407,brain cancer | brain neoplasm
BMGC_DS00311,BMG_DS000408,Branch Retinal Artery Occlusion | Retinal Artery Occlusion | branch retinal artery occlusion
BMGC_DS00312,BMG_DS000409,breast cancer
BMGC_DS00313,BMG_DS000410,breast cyst
BMGC_DS00314,BMG_DS000411,Breast Diseases | breast disease | breast disorder
BMGC_DS00315,BMG_DS000413,"Brill-Zinsser Disease | Brill-Zinsser disease | Typhus, Epidemic Louse-Borne"
BMGC_DS00316,BMG_DS000415,Bronchial Diseases | bronchial disease | bronchial disorder
BMGC_DS00317,BMG_DS000416,bronchial benign neoplasm | bronchial neoplasm
BMGC_DS00318,BMG_DS000417,(Bronchospasm) or (O/E - rhonchi (& present)) | (Bronchospasm) or (O/E - rhonchi (& present)) (finding) | Bronchial Spasm | Bronchial spasm | Bronchospasm | Bronchospasm (disorder) | Bronchospasm (finding) | O/E - rhonchi | O/E - rhonchi present
BMGC_DS00319,BMG_DS000418,Bronchiectasis | Bronchiectasis (disorder) | bronchiectasis
BMGC_DS00320,BMG_DS000419,Bronchiolitis | Bronchiolitis (disorder) | bronchiolitis
BMGC_DS00321,BMG_DS000420,Bronchiolitis Obliterans | bronchiolitis obliterans | bronchiolitis obliterans syndrome
BMGC_DS00322,BMG_DS000421,"Bronchiolitis, Viral"
BMGC_DS00323,BMG_DS000422,Bronchitis | Bronchitis (disorder) | bronchitis
BMGC_DS00324,BMG_DS000424,Bilateral bronchopneumonia | Bronchial pneumonia | Bronchopneumonia | Bronchopneumonia (disorder) | Lobular pneumonia | Segmental pneumonia | bronchopneumonia
BMGC_DS00325,BMG_DS000425,Bronchopulmonary Dysplasia | bronchopulmonary dysplasia
BMGC_DS00326,BMG_DS000426,Brucellosis | Brucellosis (disorder) | Cyprus fever | Gibraltar fever | Malta fever | Mediterranean fever | Rock fever | Undulant fever | brucellosis
BMGC_DS00327,BMG_DS000427,bruxism
BMGC_DS00328,BMG_DS000428,bulimia nervosa
BMGC_DS00329,BMG_DS000429,Bundle-Branch Block
BMGC_DS00330,BMG_DS000430,Bunostomiasis | Hookworm Infections
BMGC_DS00331,BMG_DS000433,Burkitt lymphoma
BMGC_DS00332,BMG_DS000435,Burning Mouth Syndrome | burning mouth syndrome
BMGC_DS00333,BMG_DS000436,Bursitis | Bursitis (disorder) | Inflammation of bursa | bursitis
BMGC_DS00334,BMG_DS000437,(Asbestosis) or (byssinosis) or (pleural plaque disease) | (Asbestosis) or (byssinosis) or (pleural plaque disease) (disorder) | Asbestosis | Byssinosis | Byssinosis (disorder) | Byssinosis due to exposure to cotton | Cotton workers' lung disease | Cotton-dust asthma | Mill fever | Pleural plaque disease | byssinosis
BMGC_DS00335,BMG_DS000438,calcinosis
BMGC_DS00336,BMG_DS000440,Calciphylaxis | Calciphylaxis (disorder) | calciphylaxis
BMGC_DS00337,BMG_DS000441,Calcium Metabolism Disorders | calcium metabolic disease | calcium metabolism disease
BMGC_DS00338,BMG_DS000442,cholelithiasis
BMGC_DS00339,BMG_DS000445,campylobacteriosis
BMGC_DS00340,BMG_DS000446,cancer
BMGC_DS00341,BMG_DS000447,Candida infection | Candidiasis | Candidiasis (disorder) | Candidosis | Infection by Candida | Monilia infection | Moniliasis | Thrush | candidiasis
BMGC_DS00342,BMG_DS000448,Candidiasis of skin and nails | Candidiasis of skin and nails (disorder) | candidal paronychia
BMGC_DS00343,BMG_DS000449,"Candidiasis, Chronic Mucocutaneous | chronic mucocutaneous candidiasis"
BMGC_DS00344,BMG_DS000450,cutaneous candidiasis
BMGC_DS00345,BMG_DS000451,Candida infection of skin and mucous membranes | Mucocutaneous candidiasis | Mucocutaneous candidiasis (disorder)
BMGC_DS00346,BMG_DS000452,Candida infection of mouth | Candida of mouth | Candidiasis of mouth | Candidiasis of mouth (disorder) | Candidiasis of mouth and esophagus | Candidiasis of mouth and oesophagus | Candidiasis: [oral and esophagus] or [pharyngeal] | Candidiasis: [oral and oesophagus] or [pharyngeal] | Candidiasis: [oral and oesophagus] or [pharyngeal] (disorder) | Candidosis of mouth | Monilia of mouth and esophagus | Monilia of mouth and oesophagus | Moniliasis of mouth | Mycotic stomatitis | Oral candidiasis | Oral candidiasis (disorder) | Oral candidosis | Oral moniliasis | Oral thrush | Pharyngeal candidiasis | Thrush of mouth and esophagus | Thrush of mouth and oesophagus | oral candidiasis
BMGC_DS00347,BMG_DS000453,Candida of vagina | Candidiasis of vagina | Candidiasis of vagina (disorder) | Monilial infection of vagina | Vaginal candida | Vaginal candidiasis | Vaginal candidosis | Vaginal thrush
BMGC_DS00348,BMG_DS000455,cannabis abuse
BMGC_DS00349,BMG_DS000456,cannabis dependence
BMGC_DS00350,BMG_DS000457,Capgras syndrome
BMGC_DS00351,BMG_DS000458,Capillaria infection | Capillaria infection (disorder) | Capillariasis | Capillariosis | Enoplea infectious disease | Enoplida Infections | capillariasis
BMGC_DS00352,BMG_DS000461,Caplan Syndrome | Caplan syndrome | Caplan's syndrome
BMGC_DS00353,BMG_DS000462,"Carbohydrate Metabolism, Inborn Errors | carbohydrate metabolic disorder | inborn carbohydrate metabolic disorder"
BMGC_DS00354,BMG_DS000464,carbuncle
BMGC_DS00355,BMG_DS000467,carcinoma
BMGC_DS00356,BMG_DS000468,in situ carcinoma
BMGC_DS00357,BMG_DS000469,colon cancer | malignant colon neoplasm
BMGC_DS00358,BMG_DS000470,endometrial cancer
BMGC_DS00359,BMG_DS000471,female breast carcinoma
BMGC_DS00360,BMG_DS000472,larynx cancer
BMGC_DS00361,BMG_DS000473,prostate adenocarcinoma
BMGC_DS00362,BMG_DS000474,rectal carcinoma | rectum cancer
BMGC_DS00363,BMG_DS000475,skin cancer
BMGC_DS00364,BMG_DS000476,thyroid cancer
BMGC_DS00365,BMG_DS000477,basal cell carcinoma
BMGC_DS00366,BMG_DS000478,basosquamous carcinoma
BMGC_DS00367,BMG_DS000479,bronchiolo-alveolar adenocarcinoma | minimally invasive lung adenocarcinoma
BMGC_DS00368,BMG_DS000480,bronchogenic carcinoma | bronchus carcinoma
BMGC_DS00369,BMG_DS000481,ductal breast carcinoma in situ
BMGC_DS00370,BMG_DS000482,Ehrlich tumor carcinoma
BMGC_DS00371,BMG_DS000484,cutaneous neuroendocrine carcinoma
BMGC_DS00372,BMG_DS000485,mucinous adenocarcinoma
BMGC_DS00373,BMG_DS000486,lung non-small cell carcinoma | non-small cell lung carcinoma
BMGC_DS00374,BMG_DS000487,papillary carcinoma
BMGC_DS00375,BMG_DS000488,renal cell carcinoma
BMGC_DS00376,BMG_DS000489,scirrhous adenocarcinoma
BMGC_DS00377,BMG_DS000490,squamous cell carcinoma
BMGC_DS00378,BMG_DS000491,transitional cell carcinoma
BMGC_DS00379,BMG_DS000492,carcinosarcoma
BMGC_DS00380,BMG_DS000493,Cardiac Tamponade | cardiac tamponade
BMGC_DS00381,BMG_DS000494,"Cardiomyopathy, Alcoholic | alcoholic cardiomyopathy"
BMGC_DS00382,BMG_DS000495,"Cardiomyopathy, Dilated | dilated cardiomyopathy"
BMGC_DS00383,BMG_DS000496,"Cardiomyopathy, Hypertrophic | Hypertrophic Cardiomyopathy | hypertrophic cardiomyopathy"
BMGC_DS00384,BMG_DS000497,Constrictive cardiomyopathy | Primary restrictive cardiomyopathy | Primary restrictive cardiomyopathy (disorder) | Restrictive cardiomyopathy | Restrictive cardiomyopathy (disorder) | restrictive cardiomyopathy
BMGC_DS00385,BMG_DS000498,Cardiovascular Diseases | cardiovascular disorder | cardiovascular system disease
BMGC_DS00386,BMG_DS000499,Carotid Artery Diseases | carotid artery disease | carotid artery disorder
BMGC_DS00387,BMG_DS000500,Carotid Artery Thrombosis | carotid artery thrombosis
BMGC_DS00388,BMG_DS000502,Carotid Stenosis | carotid stenosis
BMGC_DS00389,BMG_DS000504,Carpal Tunnel Syndrome | carpal tunnel syndrome
BMGC_DS00390,BMG_DS000505,Carsickness | Motion Sickness
BMGC_DS00391,BMG_DS000506,Cartilage Diseases | cartilage disease | obsolete cartilage disease
BMGC_DS00392,BMG_DS000507,Cat Diseases | cat disease
BMGC_DS00393,BMG_DS000508,Cat-Scratch Disease | cat-scratch disease
BMGC_DS00394,BMG_DS000509,Cataplexy | Cataplexy (disorder)
BMGC_DS00395,BMG_DS000511,catatonia
BMGC_DS00396,BMG_DS000512,Cattle Diseases | cattle disease
BMGC_DS00397,BMG_DS000514,"CRPS - Complex regional pain syndrome type II | Causalgia | Causalgia (disorder) | Causalgia (finding) | Complex regional pain syndrome type II | Complex regional pain syndrome, type II | Complex regional pain syndrome, type II (disorder) | Deafferentation pain | Other mononeuritis -upper limb | Other mononeuritis upper limb &/or causalgia | Other mononeuritis upper limb &/or causalgia (disorder) | Other upper limb mononeuritis | causalgia | complex regional pain syndrome type 2"
BMGC_DS00398,BMG_DS000515,Cecal Diseases | cecal disease | cecal disorder
BMGC_DS00399,BMG_DS000516,cecal benign neoplasm | cecal neoplasm
BMGC_DS00400,BMG_DS000517,Celiac Disease | celiac disease
BMGC_DS00401,BMG_DS000518,Cellulitis | Cellulitis (disorder) | Cellulitis (morphologic abnormality) | Phlegmon | Phlegmonous cellulitis | cellulitis
BMGC_DS00402,BMG_DS000519,tinea unguium
BMGC_DS00403,BMG_DS000521,Cellulitis - hand | Cellulitis -hand (& -excl. finger) | Cellulitis -hand (& -excl. finger) (disorder) | Cellulitis -hand -excl. finger | Cellulitis of hand | Cellulitis of hand (disorder) | Cellulitis of hand excluding finger | cellulitis
BMGC_DS00404,BMG_DS000523,CNS disorder | CNS disorder (& H/O) or H/O: brain disorder | CNS disorder (& H/O) or H/O: brain disorder (disorder) | CNS disorder (disorder) | H/O: CNS disorder | H/O: brain disorder | central nervous system disease
BMGC_DS00405,BMG_DS000524,Central Nervous System Infection | Central Nervous System Infections
BMGC_DS00406,BMG_DS000525,Central Retinal Artery Occlusion | Retinal Artery Occlusion | central retinal artery occlusion
BMGC_DS00407,BMG_DS000528,Cerebellar Ataxia | cerebellar ataxia
BMGC_DS00408,BMG_DS000529,Cerebellar Diseases | cerebellar disease | cerebellar disorder
BMGC_DS00409,BMG_DS000530,Myoclonic Cerebellar Dyssynergia | myoclonic cerebellar dyssynergia
BMGC_DS00410,BMG_DS000531,cerebellar neoplasm | cerebellum cancer
BMGC_DS00411,BMG_DS000532,Intracranial Aneurysm | intracranial aneurysm
BMGC_DS00412,BMG_DS000533,Intracranial Arteriosclerosis | intracranial arteriosclerosis
BMGC_DS00413,BMG_DS000534,arteriovenous malformations of the brain
BMGC_DS00414,BMG_DS000535,Cerebral arteritis | Cerebral arteritis (disorder) | cerebral arteritis
BMGC_DS00415,BMG_DS000536,Cerebral Arterial Diseases | cerebral arterial disease
BMGC_DS00416,BMG_DS000537,Cerebral Atherosclerosis | Intracranial Arteriosclerosis | cerebral atherosclerosis
BMGC_DS00417,BMG_DS000538,Cerebral Embolism | Intracranial Embolism | intracranial embolism
BMGC_DS00418,BMG_DS000539,Intracranial Embolism and Thrombosis
BMGC_DS00419,BMG_DS000540,Cerebral Infarction | cerebral infarction
BMGC_DS00420,BMG_DS000541,Brain Ischemia | brain ischemia
BMGC_DS00421,BMG_DS000542,"Ischemic Attack, Transient | Transient Ischemic Attack | transient cerebral ischemia | transient ischemic attack"
BMGC_DS00422,BMG_DS000543,Cerebral lipidosis | Cerebral lipidosis (disorder) | cerebral lipidosis
BMGC_DS00423,BMG_DS000544,Cerebral Palsy | cerebral palsy
BMGC_DS00424,BMG_DS000545,Balo concentric sclerosis | Diffuse Cerebral Sclerosis of Schilder | Schilder disease
BMGC_DS00425,BMG_DS000546,cerebral ventricle cancer
BMGC_DS00426,BMG_DS000547,Cerebrospinal meningitis | Epidemic meningitis | Meningococcal cerebrospinal fever | Meningococcal meningitis | Meningococcal meningitis (disorder)
BMGC_DS00427,BMG_DS000550,Cerebrovascular Disorders | cerebrovascular disease | cerebrovascular disorder
BMGC_DS00428,BMG_DS000551,Certain types of iridocyclitis | Certain types of iridocyclitis (disorder) | iridocyclitis
BMGC_DS00429,BMG_DS000552,cervical cancer
BMGC_DS00430,BMG_DS000553,Cervical Migraine Syndrome | Migraine Disorders
BMGC_DS00431,BMG_DS000556,Uterine Cervicitis | cervicitis
BMGC_DS00432,BMG_DS000557,cervicitis
BMGC_DS00433,BMG_DS000558,Brachial Plexus Neuritis | Cervico-Brachial Neuralgia
BMGC_DS00434,BMG_DS000560,Cervix Diseases | Uterine Cervical Diseases | cervix disease | cervix disorder
BMGC_DS00435,BMG_DS000562,Cervix Erosion | Uterine Cervical Erosion | cervix erosion
BMGC_DS00436,BMG_DS000564,cervical incompetence
BMGC_DS00437,BMG_DS000565,cervical cancer | uterine cervix neoplasm
BMGC_DS00438,BMG_DS000569,Chalazion | Meibomian Cyst | chalazion | meibomian cyst
BMGC_DS00439,BMG_DS000570,syphilis
BMGC_DS00440,BMG_DS000572,(Chancroid [& bubo]) or (Ducrey's chancre) | (Chancroid [& bubo]) or (Ducrey's chancre) (disorder) | Angina - Vincents | Chancroid | Chancroid (disorder) | Chancroidal bubo | Ducrey's chancre | Leptospirosis | Lymphogranuloma venereum | Other venereal/spirochaete dis | Other venereal/spirochaete disease | Soft chancre - chancroid | Soft sore - chancroid | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] (disorder) | Trench mouth | Vincent's angina | Weil's disease | Yaws | chancroid
BMGC_DS00441,BMG_DS000573,Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth disease
BMGC_DS00442,BMG_DS000574,Chediak-Higashi Syndrome | Chediak-Higashi syndrome
BMGC_DS00443,BMG_DS000576,(Oral soft tissue diseases NOS) or (canker) or (cheilitis) or (mucocele of mouth) | (Oral soft tissue diseases NOS) or (canker) or (cheilitis) or (mucocele of mouth) (disorder) | Canker | Cheilitis | Cheilitis (disorder) | Mucocele - mouth | Mucocele of mouth | Oral soft tissue disease NOS | Oral soft tissue diseases NOS | cheilitis
BMGC_DS00444,BMG_DS000577,Cherubism | Cherubism (disorder) | Familial fibrous dysplasia of jaw | Familial multilocular cystic disease of the jaws | Fibrous dysplasia of jaw | Fibrous dysplasia of jaw (disorder) | cherubism
BMGC_DS00445,BMG_DS000578,Chiari-Frommel Syndrome | hyperprolactinemia | postpartum amenorrhea-galactorrhea syndrome
BMGC_DS00446,BMG_DS000579,Chicken pox | Chickenpox | Chickenpox - varicella | Varicella | Varicella (disorder) | Varicella infection | Varicella infection (& [chickenpox]) | Varicella infection (& [chickenpox]) (disorder) | chickenpox
BMGC_DS00447,BMG_DS000580,Chikungunya Fever | chikungunya
BMGC_DS00448,BMG_DS000581,Child Nutrition Disorders
BMGC_DS00449,BMG_DS000582,Glutamate Monosodium Sensitivity | monosodium glutamate sensitivity
BMGC_DS00450,BMG_DS000583,Chlamydia Infections | chlamydia trachomatis infectious disease
BMGC_DS00451,BMG_DS000585,Asiderotic anaemia | Asiderotic anemia | Chlorotic anaemia | Chlorotic anemia | Deficiency anaemias | Deficiency anaemiasm (& [asiderotic] or [sideropenic]) | Deficiency anaemiasm (& [asiderotic] or [sideropenic]) (disorder) | Deficiency anemias | Deficiency anemiasm (& [asiderotic] or [sideropenic]) | IDA - Iron deficiency anaemia | IDA - Iron deficiency anemia | Iron deficiency anaemia | Iron deficiency anaemia syndrome | Iron deficiency anemia | Iron deficiency anemia (disorder) | Iron deficiency anemia syndrome | Sideropenic anaemia | Sideropenic anemia
BMGC_DS00452,BMG_DS000586,choanal atresia
BMGC_DS00453,BMG_DS000588,bile duct adenoma
BMGC_DS00454,BMG_DS000589,Cholangitis | Cholangitis (disorder) | cholangitis
BMGC_DS00455,BMG_DS000590,"Liver Cirrhosis, Biliary | Primary Biliary Cholangitis | primary biliary cholangitis"
BMGC_DS00456,BMG_DS000591,"Cholangitis, Sclerosing | sclerosing cholangitis"
BMGC_DS00457,BMG_DS000592,Cholecystitis | Cholecystitis (disorder) | Inflamed gallbladder | cholecystitis
BMGC_DS00458,BMG_DS000593,bile duct cyst | choledochal cyst
BMGC_DS00459,BMG_DS000594,Bile duct calculus | Biliary calculus | Biliary calculus (disorder) | CL - Cholelithiasis | Calculus - biliary | Calculus - gall bladder | Calculus in biliary tract | Calculus in biliary tract (disorder) | Cholelithiasis | Cholelithiasis (& calculus: [bile duct] or [cystic duct] or [gallbladder]) | Cystic duct calculus | Gall stones (& [calculus - gall bladder]) | Gallbladder calculus | Gallstones | Stone - biliary | Stones - gall | cholelithiasis
BMGC_DS00460,BMG_DS000595,(Cholera) or (Vibrio cholerae) | (Cholera) or (Vibrio cholerae) (disorder) | Cholera | Cholera (disorder) | Vibrio cholerae | Vibrio cholerae infection | cholera
BMGC_DS00461,BMG_DS000596,Bile stasis | Cholestasis | Cholestasis (finding) | cholestasis
BMGC_DS00462,BMG_DS000597,"Cholestasis, Intrahepatic | Intrahepatic Cholestasis | intrahepatic cholestasis"
BMGC_DS00463,BMG_DS000598,(Cholesteatoma middle ear) or (middle ear polyp) | (Cholesteatoma middle ear) or (middle ear polyp) (disorder) | Cholesteatoma | Cholesteatoma (disorder) | Cholesteatoma (morphologic abnormality) | Cholesteatoma pearl | Cholesteatoma-polyp.-middle e. | Epidermoid cholesteatoma | Polyp - middle ear | Polyp of middle ear | cholesteatoma
BMGC_DS00464,BMG_DS000599,Cholesteatoma of middle ear / mastoid | Cholesteatoma of middle ear and mastoid | Cholesteatoma of middle ear and mastoid (disorder) | Cholesteatoma of middle ear and mastoid structure | Cholesteatoma of middle ear and mastoid structure (disorder) | cholesteatoma of middle ear
BMGC_DS00465,BMG_DS000600,Cholesterol Ester Storage Disease | cholesterol ester storage disease | cholesteryl ester storage disease
BMGC_DS00466,BMG_DS000601,Choline Deficiency | choline deficiency disease
BMGC_DS00467,BMG_DS000602,chondroblastoma
BMGC_DS00468,BMG_DS000603,Chondrodysplasia Punctata | chondrodysplasia punctata
BMGC_DS00469,BMG_DS000604,Abnormal development of cartilage | Chondrodystrophy | Congenital anomaly of cartilage | Congenital anomaly of cartilage (disorder) | cartilage development disorder | osteochondrodysplasia
BMGC_DS00470,BMG_DS000605,Chondromalacia Patellae | chondromalacia patellae
BMGC_DS00471,BMG_DS000607,chondrosarcoma
BMGC_DS00472,BMG_DS000608,chordoma
BMGC_DS00473,BMG_DS000609,Chorea | Chorea (disorder) | Choreic movement | Choreiform disorder | Choreiform movement | choreatic disease
BMGC_DS00474,BMG_DS000611,Amnionitis | Amniotic cavity infection | Amniotic cavity infection (& [membranitis] or [placentitis]) | Amniotic cavity infection (& [membranitis] or [placentitis]) (disorder) | Chorioamnionitis | Chorioamnionitis (disorder) | Membranitis | Placentitis | chorioamnionitis
BMGC_DS00475,BMG_DS000612,choriocarcinoma
BMGC_DS00476,BMG_DS000613,chorioretinal scar
BMGC_DS00477,BMG_DS000614,Chorioretinal inflammation | Chorioretinitis | Chorioretinitis (& photoretinitis) | Chorioretinitis (& photoretinitis) (disorder) | Chorioretinitis (disorder) | Choroiditis and retinitis | Photoretinitis | Retinochoroiditis | chorioretinitis
BMGC_DS00478,BMG_DS000615,Choroid Diseases | choroid disease
BMGC_DS00479,BMG_DS000616,choroid cancer | choroid neoplasm
BMGC_DS00480,BMG_DS000617,Choroideraemia | Choroideremia | Choroideremia (disorder) | Tapetochoroidal dystrophy | choroideremia
BMGC_DS00481,BMG_DS000618,Choroiditis | Choroiditis (disorder) | choroiditis
BMGC_DS00482,BMG_DS000619,Christmas disease | Congenital factor IX deficiency | Haemophilia B | Hemophilia B | Hereditary factor IX deficiency disease | Hereditary factor IX deficiency disease (disorder) | PTC deficiency disease | Sex-linked factor IX deficiency disease | hemophilia B
BMGC_DS00483,BMG_DS000620,Chromoblastomycosis | Chromoblastomycosis (disorder) | Chromomycosis | Chromomycosis (disorder) | chromoblastomycosis | chromomycosis
BMGC_DS00484,BMG_DS000622,Anomaly of chromosome | Chromosomal abnormality syndrome | Chromosomal hereditary disorder | Chromosomal imbalance syndrome | Chromosomopathy | Congenital chromosomal disease | Congenital disorder due to abnormality of chromosome number OR structure | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | chromosomal disorder
BMGC_DS00485,BMG_DS000623,"Bronchitis, Chronic | bronchitis | chronic bronchitis"
BMGC_DS00486,BMG_DS000625,Chronic eosinophilic pneumonitis | Chronic pulmonary eosinophilia | Cryptogenic eosinophilic pneumonitis | Cryptogenic pulmonary eosinophilia | Cryptogenic pulmonary eosinophilia (disorder) | Idiopathic pulmonary eosinophilia | chronic eosinophilic pneumonia
BMGC_DS00487,BMG_DS000626,"Chronic ethmoidal sinusitis | Chronic ethmoidal sinusitis (disorder) | Chronic ethmoiditis | Chronic pansinusitis | Chronic sinusitis NOS | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] (disorder) | Chronic sphenoidal sinusitis | Ethmoid sinus | Ethmoidal sinusitis - chronic | Other specified chronic rhinosinusitis | Pansinusitis, chronic | Sphenoidal sinus-chr. | chronic ethmoidal sinusitis | chronic ethmoiditis"
BMGC_DS00488,BMG_DS000627,Chronic frontal sinusitis | Chronic frontal sinusitis (disorder) | Frontal sinus | Frontal sinusitis | Frontal sinusitis (& chronic) | Frontal sinusitis (& chronic) (disorder) | Other specified chronic rhinosinusitis | chronic frontal sinusitis
BMGC_DS00489,BMG_DS000628,"(Chronic gingivitis) or (gingivostomatitis) | (Chronic gingivitis) or (gingivostomatitis) (disorder) | Chronic gingivitis | Chronic gingivitis (disorder) | Diseases or disorders of orofacial complex, unspecified | Gingivitis | Gingivitis (& [chronic]) | Gingivitis (& [chronic]) (disorder) | Gingivostomatitis | chronic gingivitis | gingivitis"
BMGC_DS00490,BMG_DS000630,(Maxillary sinusitis) or (chronic antritis) | (Maxillary sinusitis) or (chronic antritis) (disorder) | Antritis - chronic | Chronic antritis | Chronic maxillary sinusitis | Chronic maxillary sinusitis (disorder) | Maxillary sinus | Maxillary sinusitis | Other specified chronic rhinosinusitis | chronic maxillary sinusitis
BMGC_DS00491,BMG_DS000631,chronic tic disorder
BMGC_DS00492,BMG_DS000632,(Osteomyelitis: [chronic] or [Garre's sclerosing]) or (Brodie's abscess) or (sequestrum of bone) | (Osteomyelitis: [chronic] or [Garre's sclerosing]) or (Brodie's abscess) or (sequestrum of bone) (disorder) | Brodie's abscess | Chronic osteomyelitis | Chronic osteomyelitis (disorder) | Garre's sclerosing osteomyelitis | Sequestrum of bone | osteomyelitis
BMGC_DS00493,BMG_DS000633,(Chronic rhinitis) or (catarrh unspecified) | (Chronic rhinitis) or (catarrh unspecified) (disorder) | Catarrh unspecified | Chronic rhinitis | Chronic rhinitis (& ozaena) | Chronic rhinitis (& ozaena) (disorder) | Chronic rhinitis (disorder) | Ozaena | Ozena | Rhinitis - chronic | chronic rhinitis
BMGC_DS00494,BMG_DS000634,"Chronic ethmoidal sinusitis | Chronic pansinusitis | Chronic sinusitis NOS | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] (disorder) | Chronic sphenoidal sinusitis | Chronic sphenoidal sinusitis (disorder) | Ethmoidal sinusitis - chronic | Other specified chronic rhinosinusitis | Pansinusitis, chronic | Sphenoid sinus | Sphenoidal sinus-chr. | chronic sphenoidal sinusitis"
BMGC_DS00495,BMG_DS000635,Chronic Disease | Chronically Ill
BMGC_DS00496,BMG_DS000636,Allergic granulomatosis angiitis | Allergic granulomatosis angiitis (disorder) | Allergic granulomatous angiitis | CSS - Churg-Strauss syndrome | Churg Strauss syndrome | Churg-Strauss syndrome | EGPA - eosinophilic granulomatosis with polyangiitis | Eosinophilic granulomatosis with polyangiitis | eosinophilic granulomatosis with polyangiitis
BMGC_DS00497,BMG_DS000637,Chylous Ascites | chylous ascites
BMGC_DS00498,BMG_DS000638,Chylothorax | Chylothorax (disorder)
BMGC_DS00499,BMG_DS000639,Ciliary Motility Disorders | primary ciliary dyskinesia
BMGC_DS00500,BMG_DS000640,CL - Cirrhosis of liver | Cirrhosis of liver | Cirrhosis of liver (disorder) | Cirrhosis of liver without mention of alcohol | Hepatic cirrhosis
BMGC_DS00501,BMG_DS000641,cleft lip | isolated cleft lip
BMGC_DS00502,BMG_DS000642,cleft palate
BMGC_DS00503,BMG_DS000643,Cleidocranial Dysplasia | cleidocranial dysplasia | cleidocranial dysplasia 1
BMGC_DS00504,BMG_DS000644,Chinese liver fluke disease | Clonorchiasis | Clonorchiasis (disorder) | Clonorchiosis | Hepatic distomiasis due to Clonorchis sinensis | Oriental liver fluke disease | clonorchiasis
BMGC_DS00505,BMG_DS000646,clubfoot
BMGC_DS00506,BMG_DS000647,Cluster Headache | cluster headache syndrome
BMGC_DS00507,BMG_DS000648,cocaine abuse
BMGC_DS00508,BMG_DS000649,Aspergillosis | Coccidioidomycosis | Coccidioidomycosis (disorder) | Coccidioidomycosis infection | Histoplasmosis | Mycoses - other | Other mycoses | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Piedra | Posadas-Wernicke disease | Sporotrichosis | coccidioidomycosis
BMGC_DS00509,BMG_DS000650,Coccidiosis | Coccidiosis (& [intestinal]) | Coccidiosis (& [intestinal]) (disorder) | Coccidiosis (disorder) | Coccidiosis infection | coccidiosis
BMGC_DS00510,BMG_DS000652,Cochlear Diseases | cochlear disease | cochlear disorder
BMGC_DS00511,BMG_DS000653,Cockayne Syndrome | Cockayne syndrome
BMGC_DS00512,BMG_DS000657,Coin lesion of lung | Coin lesion of lung (finding) | pulmonary coin lesion
BMGC_DS00513,BMG_DS000658,Cold Panniculitis | Panniculitis
BMGC_DS00514,BMG_DS000659,Colitis | Colitis (disorder) | Colon inflammation | colitis
BMGC_DS00515,BMG_DS000660,"Colitis, Ulcerative | Ulcerative Colitis | ulcerative colitis"
BMGC_DS00516,BMG_DS000661,Collagen Diseases | collagen disease | obsolete collagen diseases | rheumatic disorder
BMGC_DS00517,BMG_DS000662,coloboma
BMGC_DS00518,BMG_DS000663,Colonic Diseases | colonic disease | colonic disorder
BMGC_DS00519,BMG_DS000664,"Colonic Diseases, Functional | functional colonic disease"
BMGC_DS00520,BMG_DS000665,colonic benign neoplasm | colonic neoplasm
BMGC_DS00521,BMG_DS000666,polyp of colon
BMGC_DS00522,BMG_DS000667,Colonic Pseudo-Obstruction | colonic pseudo-obstruction
BMGC_DS00523,BMG_DS000668,Colorado Tick Fever | Colorado tick fever
BMGC_DS00524,BMG_DS000669,colorectal carcinoma
BMGC_DS00525,BMG_DS000670,colorectal cancer | colorectal neoplasm
BMGC_DS00526,BMG_DS000671,Lynch syndrome
BMGC_DS00527,BMG_DS000672,Coma | Coma (disorder) | Coma (finding) | Comatose | Exanimation
BMGC_DS00528,BMG_DS000673,combat disorder
BMGC_DS00529,BMG_DS000674,Common Bile Duct Diseases | common bile duct disease | common bile duct disorder
BMGC_DS00530,BMG_DS000675,common bile duct neoplasm
BMGC_DS00531,BMG_DS000676,Common Cold | common cold
BMGC_DS00532,BMG_DS000677,Common Variable Immunodeficiency | common variable immunodeficiency
BMGC_DS00533,BMG_DS000678,Communicable Diseases | infectious disease
BMGC_DS00534,BMG_DS000679,Communicating Hydrocephalus | Hydrocephalus | communicating hydrocephalus
BMGC_DS00535,BMG_DS000680,communication disorder
BMGC_DS00536,BMG_DS000681,compartment syndrome
BMGC_DS00537,BMG_DS000682,Compression of brain | Compression of brain (disorder) | Compression of brain in neonate | brain compression
BMGC_DS00538,BMG_DS000683,obsessive-compulsive personality disorder
BMGC_DS00539,BMG_DS000684,Condylomata Acuminata | anogenital venereal wart
BMGC_DS00540,BMG_DS000685,congenital macroglossia
BMGC_DS00541,BMG_DS000688,"Hepatic Fibrosis, Congenital | isolated congenital hepatic fibrosis"
BMGC_DS00542,BMG_DS000689,Conjunctival Diseases | conjunctival disease | conjunctival disorder
BMGC_DS00543,BMG_DS000690,conjunctival cancer | conjunctival tumor
BMGC_DS00544,BMG_DS000691,Acute conjunctivitis | Conjunctivitis | Conjunctivitis &/or unspecified acute conjunctivitis | Conjunctivitis &/or unspecified acute conjunctivitis (disorder) | Conjunctivitis (disorder) | Eye infection | Eye infection &/or conjunctivitis (& [acute]) | Eye infection &/or conjunctivitis (& [acute]) (disorder) | Inflammation of conjunctiva | Pink eye disease | Unspecified acute conjunctivitis | conjunctivitis
BMGC_DS00545,BMG_DS000692,"Conjunctivitis, Acute Hemorrhagic | acute hemorrhagic conjunctivitis"
BMGC_DS00546,BMG_DS000693,"Allergic Conjunctivitis | Conjunctivitis, Allergic | allergic conjunctivitis | atopic conjunctivitis"
BMGC_DS00547,BMG_DS000694,Bacterial conjunctivitis | Bacterial conjunctivitis (disorder) | Mucopurulent conjunctivitis | Mucopurulent conjunctivitis (disorder) | bacterial conjunctivitis
BMGC_DS00548,BMG_DS000695,"Conjunctivitis, Allergic | Conjunctivitis, Giant Papillary | giant papillary conjunctivitis"
BMGC_DS00549,BMG_DS000696,(Conjunctivitis: [inclusion] or [swimming pool]) or (paratrachoma) | (Conjunctivitis: [inclusion] or [swimming pool]) or (paratrachoma) (disorder) | Inclusion conjunctivitis | Inclusion conjunctivitis (disorder) | Paratrachoma | Swimming pool conjunctivitis | inclusion conjunctivitis
BMGC_DS00550,BMG_DS000697,"Conjunctivitis, Allergic | Conjunctivitis, Vernal | vernal conjunctivitis"
BMGC_DS00551,BMG_DS000699,Connective Tissue Diseases | connective tissue disease | connective tissue disorder
BMGC_DS00552,BMG_DS000700,constipation disorder
BMGC_DS00553,BMG_DS000701,conversion disorder
BMGC_DS00554,BMG_DS000702,"Febrile Convulsions | Seizures, Febrile"
BMGC_DS00555,BMG_DS000704,Corneal Diseases | corneal disease | corneal disorder
BMGC_DS00556,BMG_DS000705,Hereditary corneal dystrophy | Hereditary corneal dystrophy (disorder) | corneal dystrophy
BMGC_DS00557,BMG_DS000706,Corneal dystrophy | Corneal dystrophy (disorder) | corneal dystrophy
BMGC_DS00558,BMG_DS000707,corneal edema
BMGC_DS00559,BMG_DS000708,Corneal Ulcer | corneal ulcer
BMGC_DS00560,BMG_DS000709,Coronary Aneurysm | coronary aneurysm
BMGC_DS00561,BMG_DS000710,Coronary Arteriosclerosis | Coronary Artery Disease | coronary artery disease | coronary atherosclerosis
BMGC_DS00562,BMG_DS000711,ASHD | Arteriosclerotic heart disease | Atherosclerotic heart disease | CAD - Coronary artery disease | CHD - Coronary heart disease | Cardiac ischaemia | Cardiac ischemia | Coronary arteriosclerosis | Coronary arteriosclerosis (disorder) | Coronary artery disease | Coronary atheroma | Coronary atherosclerosis | Coronary atherosclerosis (disorder) | Coronary heart disease | Coronary sclerosis | IHD - Ischaemic heart disease | IHD - Ischemic heart disease | Ischaemic heart disease | Ischemic heart disease | Myocardial ischaemia | Myocardial ischemia | coronary artery disease
BMGC_DS00563,BMG_DS000712,Coronary Thrombosis | coronary thrombosis
BMGC_DS00564,BMG_DS000713,Coronary Artery Vasospasm | Coronary Vasospasm | coronary artery vasospasm | coronary vasospasm
BMGC_DS00565,BMG_DS000715,Corpus Luteum Cyst | Ovarian Cysts | corpus luteum cyst
BMGC_DS00566,BMG_DS000718,(Viral exanthemata [& variants]) or (orf) or (milkers node) | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Cowpox | Cowpox (disorder) | Fifth disease | Fourth disease | Milker's node | Milkers' node | Orf | Other viral exanthemata | Parascarlatina | Pseudocowpox | Roseola infantum | Smallpox | Variola major | cowpox
BMGC_DS00567,BMG_DS000719,Coxsackievirus Infections | coxsackievirus infectious disease
BMGC_DS00568,BMG_DS000721,cranial nerve disease | cranial nerve neuropathy
BMGC_DS00569,BMG_DS000722,cranial nerve malignant neoplasm | cranial nerve neoplasm
BMGC_DS00570,BMG_DS000724,Craniofacial Dysostosis | Crouzon syndrome
BMGC_DS00571,BMG_DS000725,craniopharyngioma
BMGC_DS00572,BMG_DS000726,"(Craniosynostosis) or (scaphocephaly) | (Craniosynostosis) or (scaphocephaly) (disorder) | CSO - Craniosynostosis | Congenital ossification of cranial sutures | Congenital ossification of sutures of skull | Craniostenosis | Craniostosis | Craniosynostoses | Craniosynostosis | Craniosynostosis (disorder) | Craniosynostosis syndrome | Craniosynostosis syndrome (disorder) | Craniosynostosis, unspecified | Premature closure of cranial sutures | Premature cranial suture closure | Scaphocephaly | craniosynostosis"
BMGC_DS00573,BMG_DS000727,Congenital Hypothyroidism | congenital hypothyroidism
BMGC_DS00574,BMG_DS000728,Cri-Du-Chat syndrome | Cri-du-Chat Syndrome | Cri-du-chat syndrome
BMGC_DS00575,BMG_DS000729,Crigler-Najjar syndrome | Crigler-Najjar syndrome type 1
BMGC_DS00576,BMG_DS000731,Critical Illness
BMGC_DS00577,BMG_DS000732,Crohn Disease | Crohn disease
BMGC_DS00578,BMG_DS000734,Croup | Croup (disorder) | Croup syndrome | croup
BMGC_DS00579,BMG_DS000736,"Cruveilhier-Baumgarten Syndrome | Hypertension, Portal"
BMGC_DS00580,BMG_DS000737,"Cryoglobulinaemia | Cryoglobulinemia | Cryoglobulinemia (disorder) | Cryoimmunoglobulinaemia | Cryoimmunoglobulinemia | Diseases of the immune system, unspecified | cryoglobulinemia"
BMGC_DS00581,BMG_DS000738,Busse-Buschke disease | Busse-Buschke's disease | Cryptococcosis | Cryptococcosis (disorder) | European blastomycosis | European cryptococcosis | Infection by Cryptococcus neoformans | Torula | Torulosis | cryptococcosis
BMGC_DS00582,BMG_DS000739,cryptorchidism
BMGC_DS00583,BMG_DS000740,Cryptosporidiasis | Cryptosporidiosis | Cryptosporidiosis (disorder) | Cryptosporidium infection | Infection by Cryptosporidium | Infection caused by Cryptosporidium | Infection caused by Cryptosporidium (disorder) | cryptosporidiosis
BMGC_DS00584,BMG_DS000741,Curling Ulcer | Duodenal Ulcer | duodenal ulcer
BMGC_DS00585,BMG_DS000742,Cushing Syndrome | Cushing syndrome | primary hyperaldosteronism
BMGC_DS00586,BMG_DS000744,Cutis Laxa | cutis laxa
BMGC_DS00587,BMG_DS000745,Ciliary body disorders | Cyclitis | Cyclitis (disorder) | Disorders of iris and ciliary body | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) (disorder) | Iris disorders | Iris/ciliary body disorders | Uveitis
BMGC_DS00588,BMG_DS000746,cyclothymic disorder
BMGC_DS00589,BMG_DS000747,adenoid cystic carcinoma | salivary gland adenoid cystic carcinoma
BMGC_DS00590,BMG_DS000748,cystadenocarcinoma
BMGC_DS00591,BMG_DS000749,cystadenoma
BMGC_DS00592,BMG_DS000754,Cystic Fibrosis | cystic fibrosis
BMGC_DS00593,BMG_DS000755,Cysticerciasis | Cysticercosis | Cysticercosis (disorder) | Larval taeniasis | Larval teniasis | cysticercosis
BMGC_DS00594,BMG_DS000756,(Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (disorder) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease) | Albinism | CSNU - Cystinuria | Cystinuria | Cystinuria (disorder) | Galactosaemia | Galactosemia | Glucose-6-phosph.dehydr.defic. | Glucose-6-phosphate dehydrogenase deficiency | Glycogen storage disease | Other amino-acid/carbohydrate | Von Gierke's disease | cystinuria | von Gierke disease
BMGC_DS00595,BMG_DS000757,Bladder infection | Cystitis | Cystitis (disorder) | cystitis
BMGC_DS00596,BMG_DS000759,benign breast phyllodes tumor | phyllodes tumor
BMGC_DS00597,BMG_DS000760,Cytomegalovirus Infections | cytomegalovirus infection
BMGC_DS00598,BMG_DS000761,"Dacryocystitis | Dacryocystitis &/or acute/chronic | Dacryocystitis &/or acute/chronic (disorder) | Dacryocystitis (disorder) | Dacryocystitis acute/chronic | Dacryocystitis, acute/chronic | dacryocystitis"
BMGC_DS00599,BMG_DS000762,Dandy-Walker Syndrome | Dandy-Walker syndrome
BMGC_DS00600,BMG_DS000763,Deafness | Prelingual Deafness
BMGC_DS00601,BMG_DS000767,Deficiency Diseases | nutritional deficiency disease
BMGC_DS00602,BMG_DS000770,Deglutition Disorders
BMGC_DS00603,BMG_DS000771,Dehydration | Dehydration (disorder) | Pure water depletion syndrome
BMGC_DS00604,BMG_DS000772,Charcot-Marie-Tooth disease type 3 | Dejerine-Sottas Disease | Hereditary Sensory and Motor Neuropathy
BMGC_DS00605,BMG_DS000773,delirium
BMGC_DS00606,BMG_DS000774,hepatitis D | hepatitis D virus infection
BMGC_DS00607,BMG_DS000775,delusional disorder
BMGC_DS00608,BMG_DS000776,Arteriosclerotic dementia | MID - multi-infarct dementia | Multi infarct dementia | Multi-infarct dementia | Multi-infarct dementia (disorder) | multi-infarct dementia | vascular dementia
BMGC_DS00609,BMG_DS000777,"Dementia, Vascular | vascular dementia"
BMGC_DS00610,BMG_DS000779,Demyelinating Diseases | demyelinating disease
BMGC_DS00611,BMG_DS000780,Dengue | Dengue Fever | dengue disease
BMGC_DS00612,BMG_DS000781,Carious lesion | Dental caries | Dental caries (disorder) | Dental cavity | Dental decay | Teeth decayed | Tooth caries | Tooth decay | Tooth decayed | dental caries
BMGC_DS00613,BMG_DS000783,Dental Enamel Hypoplasia | dental enamel hypoplasia
BMGC_DS00614,BMG_DS000784,Dental Plaque
BMGC_DS00615,BMG_DS000786,Dental Pulp Calcification | dental pulp calcification
BMGC_DS00616,BMG_DS000787,Dental Pulp Diseases | dental pulp disease | dental pulp disorder
BMGC_DS00617,BMG_DS000789,Dental Pulp Necrosis | dental pulp necrosis
BMGC_DS00618,BMG_DS000791,Dentin Dysplasia | dentin dysplasia
BMGC_DS00619,BMG_DS000792,Dentin Sensitivity | dentin sensitivity
BMGC_DS00620,BMG_DS000794,dentinogenesis imperfecta
BMGC_DS00621,BMG_DS000795,dependent personality disorder
BMGC_DS00622,BMG_DS000796,depressive disorder
BMGC_DS00623,BMG_DS000797,endogenous depression | melancholic depression
BMGC_DS00624,BMG_DS000798,neurotic disorder
BMGC_DS00625,BMG_DS000799,depressive disorder
BMGC_DS00626,BMG_DS000800,Dermatitis | Dermatitis (disorder) | Eczema | Eczema (disorder) | Inflammation of skin | Inflammatory dermatosis | Inflammatory dermatosis (disorder) | dermatitis
BMGC_DS00627,BMG_DS000801,Acute eczema | Acute eczema (disorder) | Desquamative eczema | Desquamative eczematous dermatitis | Erythematous eczema | Erythroderma | Erythroderma (disorder) | Erythrodermatitis | Erythrodermic eczema | Exfoliative dermatitis | Exfoliative eczema | Exfoliative eczematous dermatitis | Generalised exfoliative dermatitis | Generalized exfoliative dermatitis | Scaling eczema | Scaling eczema (disorder) | Scaling eczematous dermatitis | exfoliative dermatitis
BMGC_DS00628,BMG_DS000802,Dermatitis Herpetiformis | dermatitis herpetiformis
BMGC_DS00629,BMG_DS000803,"Dermatitis, Atopic | atopic dermatitis | atopic eczema"
BMGC_DS00630,BMG_DS000804,"Contact Dermatitis | Dermatitis, Contact | contact dermatitis"
BMGC_DS00631,BMG_DS000806,Dermatomycoses | dermatomycosis
BMGC_DS00632,BMG_DS000807,Adult type dermatomyositis | DM - Dermatomyositis | Dermatomyositis | Dermatomyositis (& [Poikilodermatomyositis]) | Dermatomyositis (& [Poikilodermatomyositis]) (disorder) | Dermatomyositis (disorder) | Poikilodermatomyositis | Polymyositis with skin involvement | Wagner-Unverricht syndrome | dermatomyositis
BMGC_DS00633,BMG_DS000808,(Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) | Dermatophytosis | Dermatophytosis (disorder) | Dermatophytosis-tinea/ringworm | Fungal infection | Fungal infections | Microsporic tinea | Mycoses | Ringworm | Tinea | dermatophytosis
BMGC_DS00634,BMG_DS000809,(Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) (disorder) | Dermatophytosis of groin | Dermatophytosis of groin and perianal area | Dermatophytosis of groin and perianal area (disorder) | Dermatophytosis of groin and pubic area | Dhobie itch | Eczema marginatum | Hebrae | Jock itch | Ringworm of genitocrural region | Tinea cruris | Tinea cruris (disorder) | Tinea inguinalis | Tinea of groin | Tinea of perianal region | dermatophytosis of groin and perianal area | tinea cruris
BMGC_DS00635,BMG_DS000810,dermatophytosis of scalp or beard | tinea capitis
BMGC_DS00636,BMG_DS000811,Acrosclerosis | SS - Systemic sclerosis | Scleroderma | Scleroderma (& [acrosclerosis] or [systemic sclerosis]) | Scleroderma (& [acrosclerosis] or [systemic sclerosis]) (disorder) | Scleroderma (& [systemic sclerosis]) | Scleroderma (& [systemic sclerosis]) (disorder) | Scleroderma (disorder) | Scleroderma syndrome | Scleroderma syndrome (disorder) | Systemic scleroderma | Systemic sclerosis | Systemic sclerosis (disorder) | Thibierge-Weissenbach syndrome | scleroderma
BMGC_DS00637,BMG_DS000812,Dermatosis Papulosa Nigra | dermatosis papulosa nigra
BMGC_DS00638,BMG_DS000813,dermoid cyst
BMGC_DS00639,BMG_DS000814,developmental coordination disorder
BMGC_DS00640,BMG_DS000815,dextrocardia
BMGC_DS00641,BMG_DS000816,Diabetes
BMGC_DS00642,BMG_DS000817,Diabetes Insipidus | diabetes insipidus
BMGC_DS00643,BMG_DS000818,Diabetes Mellitus | diabetes mellitus
BMGC_DS00644,BMG_DS000819,"Diabetes Mellitus, Insulin-Dependent | Diabetes Mellitus, Type 1 | type 1 diabetes mellitus"
BMGC_DS00645,BMG_DS000820,"Diabetes Mellitus, Lipoatrophic | Lipoatrophic Diabetes Mellitus | lipoatrophic diabetes | lipoatrophic diabetes mellitus"
BMGC_DS00646,BMG_DS000821,"Diabetes Mellitus, Non-Insulin-Dependent | Diabetes Mellitus, Type 2 | type 2 diabetes mellitus"
BMGC_DS00647,BMG_DS000823,Diabetes with peripheral circulatory disorder | Diabetes with peripheral circulatory disorders | Diabetes with peripheral circulatory disorders (disorder) | Diabetic peripheral angiopathy | Diabetic peripheral vascular disease | Peripheral angiopathy due to diabetes mellitus | Peripheral angiopathy due to diabetes mellitus (disorder) | diabetic angiopathy | diabetic peripheral angiopathy
BMGC_DS00648,BMG_DS000824,Diabetic Angiopathies | diabetic angiopathy
BMGC_DS00649,BMG_DS000825,Cataract due to diabetes mellitus | Cataract of eye due to diabetes mellitus | Cataract of eye due to diabetes mellitus (disorder) | Diabetic cataract | diabetic cataract
BMGC_DS00650,BMG_DS000827,Diabetic Ketoacidosis | diabetic ketoacidosis
BMGC_DS00651,BMG_DS000828,Diabetic Nephropathies | Diabetic Nephropathy | diabetic kidney disease
BMGC_DS00652,BMG_DS000829,Diabetic Neuropathies | diabetic neuropathy
BMGC_DS00653,BMG_DS000830,Diabetic Retinopathy | diabetic retinopathy
BMGC_DS00654,BMG_DS000831,Diaper Rash
BMGC_DS00655,BMG_DS000832,diaphragmatic eventration
BMGC_DS00656,BMG_DS000834,Camurati-Engelmann Syndrome | Camurati-Engelmann disease
BMGC_DS00657,BMG_DS000836,VIPoma
BMGC_DS00658,BMG_DS000837,diastematomyelia
BMGC_DS00659,BMG_DS000838,Dicroceliasis | Dicroceliosis | Dicrocoeliasis | Dicrocoeliasis (disorder) | Dicrocoeliosis | Infection caused by Dicrocoelium dendriticum | Lancet fluke infection | dicrocoeliasis
BMGC_DS00660,BMG_DS000840,Dientamoebiasis | dientamoebiasis
BMGC_DS00661,BMG_DS000841,DiGeorge Syndrome | DiGeorge syndrome
BMGC_DS00662,BMG_DS000842,Digestive System Diseases | Digestive System Disorders | gastrointestinal system disease
BMGC_DS00663,BMG_DS000843,digestive system neoplasm | gastrointestinal system cancer
BMGC_DS00664,BMG_DS000845,Dipetalonema Infections | dipetalonemiasis
BMGC_DS00665,BMG_DS000846,Diphtheria | Diphtheria (disorder) | Infection due to Corynebacterium diphtheriae | diphtheria
BMGC_DS00666,BMG_DS000849,Cutaneous diphtheria | Cutaneous diphtheria (disorder) | cutaneous diphtheria
BMGC_DS00667,BMG_DS000853,Diphyllobothriasis | Diphyllobothriasis (disorder) | Diphyllobothrium infection | Fish tapeworm infection | Infection by Diphyllobothrium | Infection by Diphyllobothrium (disorder) | diphyllobothriasis
BMGC_DS00668,BMG_DS000854,Diplopia | Diplopia (disorder) | Diplopia (finding) | Double vision | Impairment of binocular functions | Seeing double
BMGC_DS00669,BMG_DS000855,"Dirofilariasis | Dirofilariosis | Filariasis, unspecified | Infection by Dirofilaria | Infection caused by Dirofilaria | Infection caused by Dirofilaria (disorder) | dirofilariasis"
BMGC_DS00670,BMG_DS000856,Discitis | Discitis (disorder) | Inflammatory discitis | Intervertebral discitis | discitis | obsolete discitis
BMGC_DS00671,BMG_DS000857,Discrete Subaortic Stenosis | discrete subaortic stenosis
BMGC_DS00672,BMG_DS000858,Clinical disease AND/OR syndrome | Disease | Disease (disorder) | Diseases | Disorder | Disorders | Syndrome | disease
BMGC_DS00673,BMG_DS000863,Iron Metabolism Disorders | iron metabolism disease
BMGC_DS00674,BMG_DS000864,Disorder of magnesium metabolism | Disorder of magnesium metabolism (disorder)
BMGC_DS00675,BMG_DS000865,disruptive behavior disorder
BMGC_DS00676,BMG_DS000866,Dissecting aortic aneurysm | Dissecting aortic aneurysm (disorder) | Dissection of aorta | Dissection of aorta (disorder)
BMGC_DS00677,BMG_DS000868,Disseminated Intravascular Coagulation | disseminated intravascular coagulation
BMGC_DS00678,BMG_DS000869,dissociative disorder
BMGC_DS00679,BMG_DS000872,Diverticulitis | Diverticulitis (& [of intestine]) | Diverticulitis (& [of intestine]) (disorder) | Diverticulitis (disorder) | Diverticulitis (morphologic abnormality) | diverticulitis
BMGC_DS00680,BMG_DS000873,"Colonic Diverticulitis | Diverticulitis, Colonic | diverticulitis of colon"
BMGC_DS00681,BMG_DS000875,DD - Diverticular disease | Diverticular disease | Diverticular disease of colon | Diverticular disease of colon (disorder) | Diverticular disease of large intestine | Diverticulosis | Diverticulosis of colon | Diverticulosis of colon without diverticulitis | Diverticulosis of colon without diverticulitis (disorder) | Diverticulosis of the colon | Symptomatic diverticulosis of colon
BMGC_DS00682,BMG_DS000877,Dog Diseases | dog disease
BMGC_DS00683,BMG_DS000878,double outlet right ventricle
BMGC_DS00684,BMG_DS000880,Down Syndrome | Down syndrome
BMGC_DS00685,BMG_DS000881,Dracontiasis | Dracontiasis - guinea-worm | Dracunculiasis | Dracunculosis | Guinea worm disease | Guinea-worm infection | Guinea-worm ulcer | Infection by Dracunculus medinensis | Infection by Dracunculus medinensis (disorder) | Infection caused by Dracunculus medinensis | Infection caused by Dracunculus medinensis (disorder) | dracunculiasis
BMGC_DS00686,BMG_DS000882,substance abuse
BMGC_DS00687,BMG_DS000883,drug allergy
BMGC_DS00688,BMG_DS000884,Dry Eye Syndromes | dry eye syndrome
BMGC_DS00689,BMG_DS000885,Alveolar periostitis | Alveolar periostitis (disorder) | Marginal periodontitis | Marginal periodontitis (disorder) | alveolar periostitis
BMGC_DS00690,BMG_DS000886,Duane Retraction Syndrome | Duane retraction syndrome
BMGC_DS00691,BMG_DS000887,"Duchenne muscular dystrophy | Muscular Dystrophy, Duchenne"
BMGC_DS00692,BMG_DS000888,patent ductus arteriosus
BMGC_DS00693,BMG_DS000889,Dumping Syndrome | dumping syndrome
BMGC_DS00694,BMG_DS000890,Duodenal Diseases | duodenal disorder | duodenum disease
BMGC_DS00695,BMG_DS000891,duodenal benign neoplasm | tumor of duodenum
BMGC_DS00696,BMG_DS000892,Duodenal Obstruction | duodenal obstruction
BMGC_DS00697,BMG_DS000893,Duodenal Ulcer | duodenal ulcer
BMGC_DS00698,BMG_DS000894,"Duodenitis | Duodenitis (disorder) | Duodenitis, unspecified | duodenitis"
BMGC_DS00699,BMG_DS000895,Duodenogastric Reflux | duodenogastric reflux
BMGC_DS00700,BMG_DS000896,Dupuytren Contracture | familial Dupuytren contracture
BMGC_DS00701,BMG_DS000897,(Achondroplasia) or (achondrogenesis) or (dwarfism (& achondroplastic)) | (Achondroplasia) or (achondrogenesis) or (dwarfism (& achondroplastic)) (disorder) | Achondrogenesis | Achondroplasia | Achondroplastic dwarf | Dwarfism | Dwarfism (disorder) | Nanosomia | Normal dwarf | Primordial dwarf | SS - Short stature | Short stature | Short stature disorder | Short stature disorder (disorder) | Small stature | True dwarfism
BMGC_DS00702,BMG_DS000898,Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] | Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] (disorder) | Hypophyseal dwarfism | Hypopituitary dwarfism | Hyposomatotropic dwarfism | Isolated deficiency of growth hormone in children | Lorain - Levi dwarfism | Pituitary dwarfism | Pituitary dwarfism (disorder) | Pituitary nanism | Prepuberal dwarfism | Prepubertal dwarfism | isolated growth hormone deficiency | pituitary dwarfism
BMGC_DS00703,BMG_DS000899,Disorder of autonomic nervous system | Disorder of autonomic nervous system (disorder) | Disorder of vegetative system | Disorders of autonomic nervous system | Dysautonomia | dysautonomia
BMGC_DS00704,BMG_DS000900,"Dysautonomia, Familial | Riley-Day syndrome"
BMGC_DS00705,BMG_DS000901,(Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhea]) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) (disorder) | Bacterial gastroenteritis | Diarrhea-bact.GIT inf. | Diarrhoea-bact.GIT inf. | Dysentery | Dysentery (disorder) | Gastroenteritis - bact. | Specific GIT infectious dis. | Specific gastrointestinal infectious disease | diarrhea | dysentery
BMGC_DS00706,BMG_DS000902,Amebic colitis | Amebic colitis (disorder) | Amoebic colitis | amebic dysentery
BMGC_DS00707,BMG_DS000903,"Dysentery, Bacillary | Shigella Infections | shigellosis"
BMGC_DS00708,BMG_DS000904,Dysgammaglobulinaemia | Dysgammaglobulinemia | Dysgammaglobulinemia (disorder) | Dysgammaglobulinemia (finding) | dysgammaglobulinemia
BMGC_DS00709,BMG_DS000905,dysgerminoma
BMGC_DS00710,BMG_DS000906,"Dyskinesia, Drug-Induced | drug-induced dyskinesia"
BMGC_DS00711,BMG_DS000907,alexia
BMGC_DS00712,BMG_DS000908,Dysmenorrhea | Dysmenorrhea (& spasmodic) | Dysmenorrhea (disorder) | Dysmenorrhea (finding) | Dysmenorrhoea | Dysmenorrhoea (& spasmodic) | Dysmenorrhoea (& spasmodic) (disorder) | Dysmenorrhoea (disorder) | Menorrhalgia | Menstrual cramps | Painful menorrhea | Painful menorrhoea | Painful menstruation | Period pain | Period pains | Spasmodic dysmenorrhea | Spasmodic dysmenorrhoea
BMGC_DS00713,BMG_DS000909,Dysostoses | dysostosis
BMGC_DS00714,BMG_DS000911,dyspepsia
BMGC_DS00715,BMG_DS000912,functional gastric disease
BMGC_DS00716,BMG_DS000914,dysthymic disorder
BMGC_DS00717,BMG_DS000916,dystonia | dystonic disorder
BMGC_DS00718,BMG_DS000917,Dystonia Musculorum Deformans | generalized dystonia | torsion dystonia
BMGC_DS00719,BMG_DS000918,Dystrophy of vulva | Dystrophy of vulva (disorder) | Lichen sclerosus of vulva | vulvar dystrophy
BMGC_DS00720,BMG_DS000919,Ear Diseases | auditory system disease | disorder of ear
BMGC_DS00721,BMG_DS000920,auditory system cancer | ear neoplasm
BMGC_DS00722,BMG_DS000922,eating disorder
BMGC_DS00723,BMG_DS000923,Ebstein anomaly
BMGC_DS00724,BMG_DS000924,Echinococciasis | Echinococcosis | Echinococcosis (disorder) | Echinococcus disease | Hydatid disease | Hydatidosis | echinococcosis
BMGC_DS00725,BMG_DS000927,"Diseases due to trematodes, unspecified | Echinostomiasis | Echinostomiasis (disorder) | Echinostomosis | echinostomiasis"
BMGC_DS00726,BMG_DS000928,echolalia
BMGC_DS00727,BMG_DS000930,Eclampsia | Eclampsia (disorder) | Eclamptic toxaemia | Eclamptic toxemia | Toxaemia with convulsions | Toxemia with convulsions | eclampsia
BMGC_DS00728,BMG_DS000931,Ecthyma | Ecthyma (disorder) | ecthyma
BMGC_DS00729,BMG_DS000932,"Ecthyma, Contagious | contagious pustular dermatitis"
BMGC_DS00730,BMG_DS000933,Ectodermal Dysplasia | ectodermal dysplasia | ectodermal dysplasia syndrome
BMGC_DS00731,BMG_DS000934,Ectoparasitic Infestations | parasitic ectoparasitic infectious disease
BMGC_DS00732,BMG_DS000936,isolated ectopia lentis
BMGC_DS00733,BMG_DS000937,"Ectromelia, Infectious | infectious ectromelia"
BMGC_DS00734,BMG_DS000938,Ectropion | Ectropion (disorder) | Ectropion of eyelid | Ectropion of eyelid (disorder) | Eversion of the eyelid | Everted margin | Everted margin (morphologic abnormality) | Eyelashes turned out | Eyelid everted | Eyelid turned out | ectropion
BMGC_DS00735,BMG_DS000939,Dermatitis | Eczema | Eczema (disorder)
BMGC_DS00736,BMG_DS000944,Ehlers-Danlos Syndrome | Ehlers-Danlos syndrome
BMGC_DS00737,BMG_DS000946,Elaeophoriasis | Filariasis
BMGC_DS00738,BMG_DS000947,(Elephantiasis) or (lymphedema [& NOS]) | (Elephantiasis) or (lymphoedema [& NOS]) | (Elephantiasis) or (lymphoedema [& NOS]) (disorder) | Elephantiasis | Filarial elephantiasis | Lymphatic filariasis | Lymphatic filariasis (disorder) | Lymphedema | Lymphedema NOS | Lymphoedema | Lymphoedema NOS | elephantiasis | podoconiosis
BMGC_DS00739,BMG_DS000948,"Elephantiasis, Filarial | Filarial Elephantiases | filarial elephantiasis"
BMGC_DS00740,BMG_DS000949,"Elliptocytosis, Hereditary | hereditary elliptocytosis"
BMGC_DS00741,BMG_DS000950,Ellis-Van Creveld Syndrome | Ellis-Van Creveld syndrome | Ellis-van Creveld syndrome
BMGC_DS00742,BMG_DS000953,Embryopathies | Fetal Diseases
BMGC_DS00743,BMG_DS000954,Empty Sella Syndrome | empty sella syndrome
BMGC_DS00744,BMG_DS000956,"Cholecystitis | Empyema, Gallbladder"
BMGC_DS00745,BMG_DS000957,"Empyema, Pleural | pleural empyema"
BMGC_DS00746,BMG_DS000958,"Empyema, Tuberculous | tuberculous empyema"
BMGC_DS00747,BMG_DS000959,Encephalitis | Encephalitis &/or myelitis | Encephalitis &/or myelitis (disorder) | Encephalitis (disorder) | Encephalitis/myelitis | Myelitis | encephalitis
BMGC_DS00748,BMG_DS000960,encephalitis lethargica | von Economo's disease
BMGC_DS00749,BMG_DS000961,"Encephalitis, California | La Crosse encephalitis"
BMGC_DS00750,BMG_DS000962,"Encephalitis, Central European | Encephalitis, Tick-Borne | tick-borne encephalitis"
BMGC_DS00751,BMG_DS000963,Arboviral encephalitis | Arbovirus encephalitis | Arbovirus encephalitis (disorder) | viral encephalitis
BMGC_DS00752,BMG_DS000964,"Encephalitis, Japanese | Japanese Encephalitis | Japanese encephalitis"
BMGC_DS00753,BMG_DS000966,"Encephalomyelitis, Acute Disseminated | acute disseminated encephalomyelitis"
BMGC_DS00754,BMG_DS000967,"Encephalitis, St. Louis | St. Louis encephalitis | st. Louis encephalitis"
BMGC_DS00755,BMG_DS000969,cephalocele
BMGC_DS00756,BMG_DS000971,occipital encephalocele
BMGC_DS00757,BMG_DS000972,Encephalomalacia | Encephalomalacia (disorder) | encephalomalacia
BMGC_DS00758,BMG_DS000973,"Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis (disorder) | Encephalitis, myelitis and encephalomyelitis | Encephalitis/myelitis NOS | Encephalitis/myelitis: [NOS] or [encephalomyelitis & (myalgic)] | Encephalitis/myelitis: [NOS] or [encephalomyelitis & (myalgic)] (disorder) | Encephalomyelitis | Encephalomyelitis (disorder) | Myalgic encephalomyelitis | Myelitis | Transverse myelitis | encephalomyelitis"
BMGC_DS00759,BMG_DS000976,"Leukoencephalitis, Acute Hemorrhagic | acute hemorrhagic leukoencephalitis"
BMGC_DS00760,BMG_DS000977,VEE | VEE - Venezuelan equine encephalitis | Venezuelan equine encephalitis | Venezuelan equine encephalitis (disorder) | Venezuelan equine encephalomyelitis | Venezuelan equine fever
BMGC_DS00761,BMG_DS000978,(Multi enchondromata) or (enchondromat) or (Ollier dis) or (chondrodysplas) or (chondrodystophy NEC) or (hypochondroplas) or (osteopath striata) or (pseudochondroplas) or (dyschondroplas) | (Multi enchondromata) or (enchondromat) or (Ollier dis) or (chondrodysplas) or (chondrodystophy NEC) or (hypochondroplas) or (osteopath striata) or (pseudochondroplas) or (dyschondroplas) (disorder) | Benign osteogenic tumour of unspecified site | Cenani-Lenz syndactyly syndrome | Chondrodysplasia | Chondrodystophy NEC | Congenital enchondromatosis | Dyschondroplasia | Enchondromatosis | Enchondromatosis (disorder) | Hypochondroplasia | Maffucci syndrome | Multiple enchondromata | Ollier disease | Ollier's disease | Osteochondromatosis syndrome | Osteochondromatosis syndrome (disorder) | Osteopathia striata | Pseudochondroplasia
BMGC_DS00762,BMG_DS000979,Endarteritis | Endarteritis (disorder) | endarteritis
BMGC_DS00763,BMG_DS000980,atrioventricular septal defect
BMGC_DS00764,BMG_DS000981,Endocardial Fibroelastosis | endocardial fibroelastosis
BMGC_DS00765,BMG_DS000982,Endocarditis | Endocarditis (disorder) | endocarditis
BMGC_DS00766,BMG_DS000983,"Bacterial Endocarditis | Endocarditis, Bacterial | bacterial endocarditis"
BMGC_DS00767,BMG_DS000985,Cervicitis | Cervicitis &/or endocervicitis | Cervicitis &/or endocervicitis (disorder) | Cervicitis/endocervicitis | Endocervicitis | Endocervicitis (disorder) | endocervicitis
BMGC_DS00768,BMG_DS000986,Endocrine System Diseases | endocrine system disease | endocrine system disorder
BMGC_DS00769,BMG_DS000987,endocrine gland cancer | endocrine gland neoplasm
BMGC_DS00770,BMG_DS000988,endodermal sinus tumor | yolk sac tumor
BMGC_DS00771,BMG_DS000989,endometrial cancer | endometrium neoplasm
BMGC_DS00772,BMG_DS000990,Endometrial Hyperplasia | endometrial hyperplasia | obsolete endometrial hyperplasia
BMGC_DS00773,BMG_DS000991,Adenomyosis | Adenomyosis - uterine endomet. | Endometriosis | Endometriosis (& [adenomyosis]) | Endometriosis (& [adenomyosis]) (disorder) | Endometriosis (clinical) | Endometriosis (disorder) | Endometriosis (morphologic abnormality) | External endometriosis | endometriosis
BMGC_DS00774,BMG_DS000992,Endometriosis of fallopian tube | Endometriosis of fallopian tube (disorder) | fallopian tube endometriosis
BMGC_DS00775,BMG_DS000993,"Endometritis | Endometritis (& [excluding cervix]) | Endometritis (& [excluding cervix]) (disorder) | Endometritis (disorder) | Endometritis - excl. cervix | Endometritis, excluding cervix | endometritis"
BMGC_DS00776,BMG_DS000996,Endophthalmitis | Endophthalmitis (disorder) | endophthalmitis
BMGC_DS00777,BMG_DS000997,Parasitic endophthalmitis | Parasitic endophthalmitis (disorder) | parasitic endophthalmitis | parasitic infectious disease
BMGC_DS00778,BMG_DS000998,"Disorders of the orbit | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) (disorder) | Displacement of eyeball, unspecified | Enophthalmia | Enophthalmos | Enophthalmos (disorder) | Exophthalmos | Orbit disorders | enophthalmos"
BMGC_DS00779,BMG_DS000999,Entamoebiasis
BMGC_DS00780,BMG_DS001001,"Enteritis | Enteritis of small intestine | Enteritis, inflammatory disorder of small intestine | Inflammation of small intestine | Inflammation of small intestine (disorder) | Inflammatory disorder of intestine | Inflammatory disorder of intestine (disorder) | enteritis"
BMGC_DS00781,BMG_DS001004,Enterobacteriaceae Infections
BMGC_DS00782,BMG_DS001005,"(Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) (disorder) | Enterocolitis | Enterocolitis, inflammation involving both small intestine and colon | Gastroenteritis | Inflammation of small intestine and colon | Inflammation of small intestine and colon (disorder) | Other non-infective inflammatory gastroenteritis and colitis | enterocolitis"
BMGC_DS00783,BMG_DS001006,"Clostridium difficile colitis | Enterocolitis, Pseudomembranous"
BMGC_DS00784,BMG_DS001009,Enterovirus Infections | enterovirus infectious disease
BMGC_DS00785,BMG_DS001010,Entropion | Entropion (disorder) | Entropion of eyelid | Entropion of eyelid (disorder) | Eyelashes turned in | Eyelid inverted | Eyelid turned in | Folded in eyelid | entropion
BMGC_DS00786,BMG_DS001011,Bed wetting | Bedwetting | Enuresis | Enuresis (& [bedwetting]) | Enuresis (& [bedwetting]) (disorder) | Enuresis (finding) | Nocturnal enuresis | Nocturnal enuresis (finding) | Nocturnal incontinence of urine | Wets bed | enuresis
BMGC_DS00787,BMG_DS001013,"Blood eosinophil number below reference range | Blood eosinophil number below reference range (finding) | Decreased blood eosinophil number | Eosinophil count raised | Eosinophil count raised (finding) | Eosinophilia | Eosinophilia (disorder) | Eosinophilia, unspecified | Eosinophilic disorder | Eosinophilic leucocytosis | Eosinophilic leukocytosis | hypereosinophilic syndrome"
BMGC_DS00788,BMG_DS001014,"Eosinophilia | Eosinophilia, Tropical"
BMGC_DS00789,BMG_DS001017,benign ependymoma | ependymoma
BMGC_DS00790,BMG_DS001018,Eperythrozoonosis | Eperythrozoonosis (disorder) | Mycoplasma Infections
BMGC_DS00791,BMG_DS001020,(Epicondylitis &/or tennis elbow) or (golfers' elbow) | (Epicondylitis &/or tennis elbow) or (golfers' elbow) (disorder) | Epicondylitis | Epicondylitis (disorder) | Golfer's elbow | Golfers' elbow | Tennis elbow | Tennis elbow - epicondylitis | epicondylitis
BMGC_DS00792,BMG_DS001021,Conjunctivitis due to adenovirus | EKC - epidemic keratoconjunctivitis | Epidemic keratoconjunctivitis | Epidemic keratoconjunctivitis (disorder) | Shipyard eye | Virus keratoconjunctivitis | epidemic keratoconjunctivitis | shipyard eye
BMGC_DS00793,BMG_DS001024,Stevens-Johnson Syndrome | Toxic Epidermal Necrolysis | toxic epidermal necrolysis
BMGC_DS00794,BMG_DS001026,epidermodysplasia verruciformis
BMGC_DS00795,BMG_DS001027,epidermolysis bullosa
BMGC_DS00796,BMG_DS001028,Epidermophyton floccosum infection | Epidermophytosis | Tinea | Tinea caused by Epidermophyton floccosum | Tinea caused by Epidermophyton floccosum (disorder)
BMGC_DS00797,BMG_DS001029,Epididymitis | Epididymitis (disorder) | epididymitis
BMGC_DS00798,BMG_DS001030,epidural spinal canal neoplasm
BMGC_DS00799,BMG_DS001031,Epiglottitis | Epiglottitis (disorder) | epiglottitis
BMGC_DS00800,BMG_DS001032,(Epilepsy) or (epileptic attack) | (Epilepsy) or (epileptic attack) (disorder) | Attack - epileptic | Epilepsy | Epilepsy (disorder) | Epileptic attack | epilepsy
BMGC_DS00801,BMG_DS001033,"Epilepsies, Partial | focal epilepsy"
BMGC_DS00802,BMG_DS001034,"Epilepsy, Generalized | generalized epilepsy | idiopathic generalized epilepsy"
BMGC_DS00803,BMG_DS001035,"Epilepsy, Tonic-Clonic | Tonic-Clonic Epilepsy | epilepsy with generalized tonic-clonic seizures"
BMGC_DS00804,BMG_DS001036,"Epilepsies, Myoclonic | Myoclonic Epilepsy | early myoclonic encephalopathy"
BMGC_DS00805,BMG_DS001037,"Absence Epilepsy | Epilepsy, Absence | absence epilepsy | childhood absence epilepsy"
BMGC_DS00806,BMG_DS001038,"Epilepsy, Temporal Lobe | temporal lobe epilepsy"
BMGC_DS00807,BMG_DS001040,"Epilepsy, Temporal Lobe | Uncinate Epilepsy"
BMGC_DS00808,BMG_DS001049,Erysipelas | Erysipelas (disorder) | Infection caused by Erysipelothrix insidiosa | Infection caused by Erysipelothrix rhusiopathiae | Infection caused by Erysipelothrix rhusiopathiae (disorder) | Patch of erysipelas | erysipelas
BMGC_DS00809,BMG_DS001053,Erythema Multiforme | erythema multiforme
BMGC_DS00810,BMG_DS001054,Erythema Nodosum | erythema nodosum
BMGC_DS00811,BMG_DS001056,Erythematosquamous dermatosis | Erythematosquamous dermatosis (disorder) | erythematosquamous dermatosis
BMGC_DS00812,BMG_DS001057,(Actinomycosis (& [infections]) or (erythrasma) | (Actinomycosis (& [infections]) or (erythrasma) (disorder) | (Cutaneous actinomycosis) or (erythrasma) or (trichomycosis axillaris) | (Cutaneous actinomycosis) or (erythrasma) or (trichomycosis axillaris) (disorder) | Actinomycosis | Actinomycotic infections | Cutaneous actinomycosis | Erythrasma | Erythrasma (disorder) | Nonpyogenic bacterial infections of the skin | Trichomycosis axillaris | erythrasma
BMGC_DS00813,BMG_DS001058,"Erythroblastosis, Fetal | fetal erythroblastosis | hemolytic disease of the fetus"
BMGC_DS00814,BMG_DS001059,"Erythroderma, Maculopapular | Parapsoriasis"
BMGC_DS00815,BMG_DS001061,Erythermalgia | Erythralgia | Erythromelalgia | Erythromelalgia (disorder) | Weir Mitchell's disease | erythromelalgia
BMGC_DS00816,BMG_DS001062,Erythromelalgia | Primary Erythermalgia | primary erythermalgia
BMGC_DS00817,BMG_DS001065,Escherichia coli Infections | escherichia coli infection
BMGC_DS00818,BMG_DS001066,Esophageal Achalasia | achalasia
BMGC_DS00819,BMG_DS001067,esophageal atresia
BMGC_DS00820,BMG_DS001068,Esophageal Diseases | esophageal disease | esophageal disorder
BMGC_DS00821,BMG_DS001069,dyskinesia of esophagus
BMGC_DS00822,BMG_DS001070,esophageal cancer | neoplasm of esophagus
BMGC_DS00823,BMG_DS001072,Esophageal Stenosis
BMGC_DS00824,BMG_DS001073,Esophageal Varices | Esophageal and Gastric Varices | esophageal varices
BMGC_DS00825,BMG_DS001074,Esophageal reflux | Esophagitis | Esophagitis (& [reflux]) or esophageal reflux | Esophagitis (disorder) | Gastro-esophageal reflux | Gastro-oesophageal reflux | Oesophageal reflux | Oesophagitis | Oesophagitis (& [reflux]) or oesophageal reflux | Oesophagitis (& [reflux]) or oesophageal reflux (disorder) | Reflux esophagitis | Reflux oesophagitis | esophagitis
BMGC_DS00826,BMG_DS001075,"Esophagitis, Peptic | Peptic Esophagitis | peptic esophagitis"
BMGC_DS00827,BMG_DS001076,Convergent squint | Convergent strabismus | Cross-eye | Esotropia | Esotropia (disorder) | esotropia
BMGC_DS00828,BMG_DS001078,Ethmoid Sinusitis | ethmoid sinusitis
BMGC_DS00829,BMG_DS001079,Euthyroid Sick Syndromes | euthyroid sick syndrome
BMGC_DS00830,BMG_DS001080,exanthem
BMGC_DS00831,BMG_DS001081,Exanthema Subitum | exanthema subitum
BMGC_DS00832,BMG_DS001084,Disorders of the orbit | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) (disorder) | Enophthalmos | Exophthalmia | Exophthalmos | Exophthalmos (disorder) | Eye displaced forwards | Orbit disorders | Proptosis | exophthalmos
BMGC_DS00833,BMG_DS001086,hereditary multiple exostoses | hereditary multiple osteochondromas
BMGC_DS00834,BMG_DS001087,Divergent concomitant strabismus | Divergent squint | Divergent strabismus | Exotropia | Exotropia (disorder) | External strabismus | XT - Exotropia | exotropia
BMGC_DS00835,BMG_DS001089,Basal Ganglia Diseases | Extrapyramidal Disorders
BMGC_DS00836,BMG_DS001090,Disease of eye | Disease of eye (disorder) | Disease of eyeball | Disorder of eye | Disorder of eye proper | Disorder of eye proper (disorder) | Disorder of eyeball | Disorder of globe | Eye disorder | disorder of orbital region | eye disease
BMGC_DS00837,BMG_DS001091,"Eye Diseases, Hereditary"
BMGC_DS00838,BMG_DS001092,Eye Infection | Eye Infections | eye infectious disorder
BMGC_DS00839,BMG_DS001093,"Eye Infections, Bacterial"
BMGC_DS00840,BMG_DS001094,fungal infection of eye
BMGC_DS00841,BMG_DS001096,"Eye Infections, Viral | viral eye infection"
BMGC_DS00842,BMG_DS001097,eye neoplasm | ocular cancer
BMGC_DS00843,BMG_DS001098,Eyelid Diseases | eyelid disease | eyelid disorder
BMGC_DS00844,BMG_DS001099,eyelid benign neoplasm | eyelid neoplasm
BMGC_DS00845,BMG_DS001100,Facial Dermatoses | facial dermatosis
BMGC_DS00846,BMG_DS001101,Facial Hemiatrophy | facial hemiatrophy
BMGC_DS00847,BMG_DS001102,Facial Nerve Diseases | facial nerve disease | facial nerve disorder
BMGC_DS00848,BMG_DS001103,Facial Neuralgia | facial neuralgia
BMGC_DS00849,BMG_DS001104,Facial paralysis | facial paralysis
BMGC_DS00850,BMG_DS001106,factitious disorder
BMGC_DS00851,BMG_DS001107,congenital factor V deficiency | factor V deficiency
BMGC_DS00852,BMG_DS001108,Factor VII Deficiency | factor VII deficiency
BMGC_DS00853,BMG_DS001109,Factor X Deficiency | factor X deficiency
BMGC_DS00854,BMG_DS001110,congenital factor XI deficiency | factor XI deficiency
BMGC_DS00855,BMG_DS001111,Factor XII Deficiency | congenital factor XII deficiency | factor XII deficiency
BMGC_DS00856,BMG_DS001112,congenital factor XIII deficiency | factor XIII deficiency
BMGC_DS00857,BMG_DS001113,Failure to Thrive
BMGC_DS00858,BMG_DS001114,Fallopian Tube Diseases | fallopian tube disease | fallopian tube disorder
BMGC_DS00859,BMG_DS001115,fallopian tube cancer | fallopian tube neoplasm
BMGC_DS00860,BMG_DS001116,Fanconi Syndrome | Fanconi renotubular syndrome | Fanconi syndrome
BMGC_DS00861,BMG_DS001117,Fanconi Anemia | Fanconi anemia
BMGC_DS00862,BMG_DS001119,Farmer's Lung | farmer's lung | farmer's lung disease
BMGC_DS00863,BMG_DS001120,Bundle-Branch Block | Fascicular Block
BMGC_DS00864,BMG_DS001121,Fasciitis | Fasciitis (disorder) | fasciitis
BMGC_DS00865,BMG_DS001122,(Fascioliasis) or (liver fluke: [sheep infection] or [NOS]) | (Fascioliasis) or (liver fluke: [sheep infection] or [NOS]) (disorder) | Fascioliasis | Infection by Fasciola | Infection caused by Fasciola | Infection caused by Fasciola (disorder) | Liver flukes NOS | Sheep liver fluke infection | fascioliasis
BMGC_DS00866,BMG_DS001123,Fascioloidiasis | fascioloidiasis
BMGC_DS00867,BMG_DS001124,Fasciolopsiasis | Fasciolopsiosis | Giant intestinal fluke infection | Infection by Fasciolopsis buski | Infection caused by Fasciolopsis buski | Infection caused by Fasciolopsis buski (disorder) | Intestinal distomiasis | Trematode Infections | fasciolopsiasis
BMGC_DS00868,BMG_DS001125,"Chronic Fatigue Syndrome | Fatigue Syndrome, Chronic | chronic fatigue syndrome | myalgic encephalomeyelitis/chronic fatigue syndrome"
BMGC_DS00869,BMG_DS001126,Fatty Liver | steatotic liver disease
BMGC_DS00870,BMG_DS001127,"Fatty Liver, Alcoholic | alcoholic fatty liver disease | steatotic liver disease"
BMGC_DS00871,BMG_DS001128,(Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) (disorder) | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other hemalytic anemias]) or (favism) | Favism | Favism (disorder) | Haemolytic anaemia due to glucose6phosphate dehydrogenase deficiency | Hereditary elliptocytosis | Hereditary stomatocytosis | Other hered. haem. anaemias | Other hered. hem. anemias | Vicia faba poisoning | Vicia faba poisoning (disorder) | favism
BMGC_DS00872,BMG_DS001129,Facial Dermatoses | Favre-Racouchot Syndrome
BMGC_DS00873,BMG_DS001130,progressive bulbar palsy of childhood
BMGC_DS00874,BMG_DS001131,Fecal Incontinence
BMGC_DS00875,BMG_DS001133,Felty Syndrome | Felty syndrome | Felty's syndrome
BMGC_DS00876,BMG_DS001134,femoral cancer | neoplasm of femur
BMGC_DS00877,BMG_DS001135,Femur Head Necrosis
BMGC_DS00878,BMG_DS001136,Fetal Alcohol Spectrum Disorders | Fetal Alcohol Syndrome | fetal alcohol syndrome
BMGC_DS00879,BMG_DS001137,Fetal Diseases
BMGC_DS00880,BMG_DS001139,fetal growth restriction
BMGC_DS00881,BMG_DS001140,Fetal Resorption
BMGC_DS00882,BMG_DS001141,fetishism | fetishistic disorder
BMGC_DS00883,BMG_DS001144,Breast Fibrocystic Disease | Fibrocystic Breast Disease | breast fibrocystic disease
BMGC_DS00884,BMG_DS001145,Fibrodysplasia Ossificans Progressiva | Myositis Ossificans | fibrodysplasia ossificans progressiva
BMGC_DS00885,BMG_DS001147,fibroma
BMGC_DS00886,BMG_DS001148,fibromatosis
BMGC_DS00887,BMG_DS001149,Fibromuscular Dysplasia | fibromuscular dysplasia
BMGC_DS00888,BMG_DS001150,Chronic widespread pain | Fibromyalgia | Fibromyalgia (disorder) | Fibromyalgia (finding) | Fibromyositis | Fibromyositis (disorder) | fibromyalgia
BMGC_DS00889,BMG_DS001151,fibrosarcoma
BMGC_DS00890,BMG_DS001152,"Fibrous Dysplasia, Monostotic | monostotic fibrous dysplasia"
BMGC_DS00891,BMG_DS001153,McCune Albright syndrome | polyostotic fibrous dysplasia
BMGC_DS00892,BMG_DS001154,Disease caused by Filarioidea | Disease caused by Filarioidea (disorder) | Filariasis | Filariasis (disorder) | Filariosis | filariasis
BMGC_DS00893,BMG_DS001156,pyromania
BMGC_DS00894,BMG_DS001157,Fish Diseases | fish disease
BMGC_DS00895,BMG_DS001158,Anal Fissure | Fissure in Ano
BMGC_DS00896,BMG_DS001159,flatfoot
BMGC_DS00897,BMG_DS001160,Focal Dermal Hypoplasia | focal dermal hypoplasia
BMGC_DS00898,BMG_DS001162,"Epilepsy, Partial, Motor | partial motor epilepsy"
BMGC_DS00899,BMG_DS001163,Folic Acid Deficiency
BMGC_DS00900,BMG_DS001165,(Folliculitis) or (seborrhea capitis) | (Folliculitis) or (seborrhoea capitis) | (Folliculitis) or (seborrhoea capitis) (disorder) | Folliculitis | Folliculitis (disorder) | Seborrhea capitis | Seborrhoea capitis | folliculitis
BMGC_DS00901,BMG_DS001166,Food Allergy | Food Hypersensitivity | food allergy
BMGC_DS00902,BMG_DS001167,Foot Dermatoses
BMGC_DS00903,BMG_DS001168,Foot Diseases | obsolete foot disorder
BMGC_DS00904,BMG_DS001171,"Foramen Ovale, Patent | patent foramen ovale"
BMGC_DS00905,BMG_DS001173,Influenza in Birds | avian influenza
BMGC_DS00906,BMG_DS001175,Apocrine miliaria | Apocrine miliaria (disorder) | Fox Fordyce disease | Fox Fordyce disease (disorder) | Fox-Fordyce disease
BMGC_DS00907,BMG_DS001176,Fragile X Syndrome | fragile X syndrome
BMGC_DS00908,BMG_DS001178,Freemartinism | freemartinism
BMGC_DS00909,BMG_DS001179,Friedreich Ataxia | Friedreich ataxia
BMGC_DS00910,BMG_DS001180,Froehlich's Syndrome | Froelich syndrome | Hypothalamic Diseases
BMGC_DS00911,BMG_DS001181,Frontal Sinusitis | frontal sinusitis
BMGC_DS00912,BMG_DS001182,hereditary fructose intolerance | hereditary fructose intolerance syndrome
BMGC_DS00913,BMG_DS001184,"Fructose-1,6-Diphosphatase Deficiency | fructose-1,6-bisphosphatase deficiency"
BMGC_DS00914,BMG_DS001185,Fuchs Endothelial Dystrophy | Fuchs' Endothelial Dystrophy | Fuchs' endothelial dystrophy
BMGC_DS00915,BMG_DS001186,Fuchs heterochromic iridocyclitis | Fuchs uveitis syndrome | Fuchs' heterochromic cyclitis | Fuchs' heterochromic cyclitis (disorder) | Fuchs' heterochromic iridocyclitis | Fuchs' heterochromic uveitis
BMGC_DS00916,BMG_DS001187,Fucosidase Deficiency Disease | Fucosidosis | fucosidosis
BMGC_DS00917,BMG_DS001188,Functional disorder of intestine | Functional disorder of intestine (disorder) | bowel dysfunction
BMGC_DS00918,BMG_DS001190,Furunculosis | Furunculosis (morphologic abnormality) | furunculosis
BMGC_DS00919,BMG_DS001191,"teeth, fused"
BMGC_DS00920,BMG_DS001193,Galactosemias | galactosemia
BMGC_DS00921,BMG_DS001194,Gall Bladder Diseases | Gallbladder Diseases | gallbladder disease | gallbladder disorder
BMGC_DS00922,BMG_DS001195,gallbladder cancer | gallbladder neoplasm
BMGC_DS00923,BMG_DS001197,Gangliosidoses | gangliosidosis
BMGC_DS00924,BMG_DS001198,Gangrene | Gangrene (disorder) | Gangrene (morphologic abnormality) | Gangrenous | Gangrenous disorder | Gangrenous disorder (disorder)
BMGC_DS00925,BMG_DS001199,Gardner Syndrome | Gardner syndrome
BMGC_DS00926,BMG_DS001201,Esophageal and Gastric Varices | Gastric Varix
BMGC_DS00927,BMG_DS001202,gastrin-producing neuroendocrine tumor | gastrinoma
BMGC_DS00928,BMG_DS001203,Gastric catarrh | Gastritis | Gastritis &/or duodenitis | Gastritis &/or duodenitis (disorder) | Gastritis (disorder) | Gastritis and duodenitis | gastritis
BMGC_DS00929,BMG_DS001204,"Gastritis, Atrophic | atrophic gastritis | chronic atrophic gastritis"
BMGC_DS00930,BMG_DS001205,"Gastritis, Hypertrophic | gastric mucosal hypertrophy"
BMGC_DS00931,BMG_DS001206,"(Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) (disorder) | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhea infection]) or (gastric flu) | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhoea infection]) or (gastric flu) | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhoea infection]) or (gastric flu) (disorder) | Diarrhea&vomiting, infection | Diarrhea+vomiting,infection | Diarrhoea&vomiting, infection | Diarrhoea+vomiting,infection | Enterocolitis | GE - Gastroenteritis | Gastric 'flu | Gastric flu | Gastroenteritis | Gastroenteritis - viral + NOS | Gastroenteropathy | Inflammation of stomach and intestine | Inflammation of stomach and intestine (disorder) | Other non-infective inflammatory gastroenteritis and colitis | Viral vomiting | Vomiting - viral | gastroenteritis"
BMGC_DS00932,BMG_DS001207,"Gastroenteritis, Transmissible, of Swine | gastroenteritis, transmissible, of swine"
BMGC_DS00933,BMG_DS001208,GERD - Gastro-esophageal reflux disease | GOR - Gastro-esophageal reflux | GOR - Gastro-oesophageal reflux | GORD - Gastro-esophageal reflux disease | GORD - Gastro-oesophageal reflux disease | Gastresophageal reflux disease | Gastro-esophageal reflux | Gastro-esophageal reflux disease | Gastro-oesophageal reflux | Gastro-oesophageal reflux disease | Gastroesophageal reflux disease | Gastroesophageal reflux disease (disorder) | Gastrooesophageal reflux disease | gastroesophageal reflux disease
BMGC_DS00934,BMG_DS001209,Gastrointestinal Diseases
BMGC_DS00935,BMG_DS001210,gastrointestinal system cancer
BMGC_DS00936,BMG_DS001211,Gaucher Disease | Gaucher disease | Gaucher's disease
BMGC_DS00937,BMG_DS001212,Arteriopath | Arteriopathy | Generalised atherosclerosis | Generalised atherosclerosis (disorder) | Generalized atherosclerosis | Generalized atherosclerosis (disorder) | generalized atherosclerosis
BMGC_DS00938,BMG_DS001213,"Epilepsy, Generalized | Generalized Nonconvulsive Seizure Disorder"
BMGC_DS00939,BMG_DS001215,Facial Nerve Diseases | Geniculate Ganglionitis | geniculate ganglionitis
BMGC_DS00940,BMG_DS001216,Herpes Zoster Oticus | geniculate herpes zoster | herpes zoster oticus
BMGC_DS00941,BMG_DS001217,"Female Genital Diseases | Genital Diseases, Female | female reproductive system disease"
BMGC_DS00942,BMG_DS001218,"Genital Diseases, Male | male reproductive system disease"
BMGC_DS00943,BMG_DS001219,female reproductive organ cancer | female reproductive system neoplasm
BMGC_DS00944,BMG_DS001220,male reproductive organ cancer | male reproductive system neoplasm
BMGC_DS00945,BMG_DS001221,Genital chancre | Primary genital syphilis | Primary genital syphilis (disorder)
BMGC_DS00946,BMG_DS001222,Geotrichosis | Geotrichosis (disorder) | Infection by Geotrichum | Other specified mycoses | geotrichosis
BMGC_DS00947,BMG_DS001223,Gerstmann syndrome
BMGC_DS00948,BMG_DS001224,Gerstmann-Straussler-Scheinker Disease | Gerstmann-Straussler-Scheinker syndrome
BMGC_DS00949,BMG_DS001225,benign giant cell tumor | giant cell tumor
BMGC_DS00950,BMG_DS001226,Angiofollicular lymph node hyperplasia | Angiofollicular lymph node hyperplasia (disorder) | Angiolymphoid hyperplasia | Angiomatous lymphoid hamartoma | Benign angiofollicular hyperplasia | Castleman disease | Castleman's disease | Castleman's disease (disorder) | Giant lymph node hyperplasia
BMGC_DS00951,BMG_DS001227,Colitis - giardial | Giardial colitis | Giardiasis | Giardiasis (& [colitis]) | Giardiasis (& [colitis]) (disorder) | Giardiasis (disorder) | Giardiosis | Lambliasis | giardiasis
BMGC_DS00952,BMG_DS001228,"(Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) (disorder) | Acromegaly | Acromegaly and gigantism | Anterior pituitary hyperfunction | Genetic giant | Giant | Giantism | Gigantism | Gigantism (disorder) | Gigantism and acromegaly | Normal giant | Pituitary hyperfunction (ant.) | Primordial giant | pituitary gigantism"
BMGC_DS00953,BMG_DS001229,Gilbert Disease | Gilbert syndrome
BMGC_DS00954,BMG_DS001230,Gingival Diseases | gingival disease | gingival disorder
BMGC_DS00955,BMG_DS001231,Gingival Hypertrophy | gingival hypertrophy
BMGC_DS00956,BMG_DS001233,gingival recession
BMGC_DS00957,BMG_DS001234,Chronic gingivitis | Gingivitis | Gingivitis (& [chronic]) | Gingivitis (& [chronic]) (disorder) | Gingivitis (disorder) | gingivitis
BMGC_DS00958,BMG_DS001235,necrotizing ulcerative gingivitis
BMGC_DS00959,BMG_DS001238,Glaucoma | Glaucoma (disorder) | glaucoma
BMGC_DS00960,BMG_DS001239,"Angle Closure Glaucoma | Glaucoma, Angle-Closure | angle-closure glaucoma"
BMGC_DS00961,BMG_DS001240,"ACG - Angle-closure glaucoma | Angle-closure glaucoma | Closed angle glaucoma | Closed-angle glaucoma | Glaucoma: [primary angle-closure] or [closed angle] | Glaucoma: [primary angle-closure] or [closed angle] (disorder) | Primary angle closure and angle closure glaucoma, unspecified | Primary angle-closure glaucoma | Primary angle-closure glaucoma (disorder) | primary angle-closure glaucoma"
BMGC_DS00962,BMG_DS001241,"Glaucoma, Neovascular | neovascular glaucoma"
BMGC_DS00963,BMG_DS001242,"Glaucoma, Open-Angle | open-angle glaucoma"
BMGC_DS00964,BMG_DS001243,"Glaucoma, Suspect | Ocular Hypertension"
BMGC_DS00965,BMG_DS001244,glioblastoma
BMGC_DS00966,BMG_DS001245,glioma | high grade glioma
BMGC_DS00967,BMG_DS001246,glomus tumor
BMGC_DS00968,BMG_DS001248,GN - Glomerulonephritis | Glomerulonephritis | Glomerulonephritis (disorder) | glomerulonephritis
BMGC_DS00969,BMG_DS001249,"Glomerulonephritis, IGA | IGA Glomerulonephritis | IgA glomerulonephritis"
BMGC_DS00970,BMG_DS001250,"Glomerulonephritis, Membranoproliferative | membranoproliferative glomerulonephritis"
BMGC_DS00971,BMG_DS001251,"Chronic nephritic syndrome, diffuse membranous glomerulonephritis | MGN - Membranous glomerulonephritis | Membranous glomerulonephritis | Membranous glomerulonephritis (disorder) | membranous glomerulonephritis"
BMGC_DS00972,BMG_DS001252,FGS - Focal glomerulosclerosis | Focal glomerular sclerosis | Focal glomerular sclerosis (disorder) | Focal glomerulosclerosis | focal segmental glomerulosclerosis
BMGC_DS00973,BMG_DS001255,Glossitis | Glossitis (disorder) | Inflammation of tongue | glossitis
BMGC_DS00974,BMG_DS001256,"Glossitis, Benign Migratory | geographic tongue"
BMGC_DS00975,BMG_DS001257,glucagonoma
BMGC_DS00976,BMG_DS001258,Glycogen Storage Disease | disorder of glycogen metabolism | glycogen storage disease
BMGC_DS00977,BMG_DS001259,Glycogen Storage Disease Type I | glycogen storage disease I
BMGC_DS00978,BMG_DS001260,"AMD - Acid maltase deficiency | Acid maltase deficiency | Glycogen storage disease type II | Lysosomal alpha-1,4-glucosidase deficiency | Lysosomal alpha-1,4-glucosidase deficiency (disorder) | alpha-1,4-Glucosidase deficiency | alpha-Glucosidase deficiency | glycogen storage disease II"
BMGC_DS00979,BMG_DS001261,Glycogen Storage Disease Type III | glycogen storage disease III
BMGC_DS00980,BMG_DS001262,Glycogen Storage Disease Type IV | glycogen storage disease IV | glycogen storage disease due to glycogen branching enzyme deficiency
BMGC_DS00981,BMG_DS001263,Glycogen Storage Disease Type V | glycogen storage disease V
BMGC_DS00982,BMG_DS001264,Glycogen Storage Disease Type VI | glycogen storage disease VI
BMGC_DS00983,BMG_DS001265,Glycogen Storage Disease Type VII | glycogen storage disease VII
BMGC_DS00984,BMG_DS001266,Glycogen Storage Disease Type VIII | glycogen storage disease VIII
BMGC_DS00985,BMG_DS001267,renal glycosuria
BMGC_DS00986,BMG_DS001268,Gnathomiasis | Gnathostomiasis | Gnathostomosis | Infection by Gnathostoma | Infection caused by Gnathostoma | Infection caused by Gnathostoma (disorder) | gnathomiasis
BMGC_DS00987,BMG_DS001270,Enlargement of thyroid | Goiter | Goiter (disorder) | Goitre | Goitre (disorder) | Struma - goiter | Struma - goitre | Struma of thyroid | Swelling of thyroid gland | Thyroid enlargement | Thyroid goiter | Thyroid goitre | Thyromegaly | goiter
BMGC_DS00988,BMG_DS001271,Endemic goiter | Endemic goiter (disorder) | Endemic goitre | Iodine-deficiency-related diffuse (endemic) goiter | Iodine-deficiency-related diffuse (endemic) goitre | Iodine-deficiency-related endemic goiter | Iodine-deficiency-related endemic goiter (disorder) | Iodine-deficiency-related endemic goitre | Simple iodine deficiency goiter | Simple iodine deficiency goitre | endemic goiter
BMGC_DS00989,BMG_DS001272,"Goiter, Nodular | Nodular Goiter | nodular goiter"
BMGC_DS00990,BMG_DS001273,Intrathoracic goiter | Intrathoracic goitre | Retrosternal goiter | Retrosternal goitre | Substernal goiter | Substernal goiter (disorder) | Substernal goitre | Substernal thyroid goiter | substernal goiter
BMGC_DS00991,BMG_DS001274,"Hypertension, Goldblatt | Hypertension, Renovascular"
BMGC_DS00992,BMG_DS001275,Gonadal Disorders | gonadal disease | gonadal disorder
BMGC_DS00993,BMG_DS001276,gonadal dysgenesis
BMGC_DS00994,BMG_DS001277,"46,XY sex reversal | Gonadal Dysgenesis, 46,XY"
BMGC_DS00995,BMG_DS001278,"Gonadal Dysgenesis, Mixed | mixed gonadal dysgenesis"
BMGC_DS00996,BMG_DS001283,(Gonococcal infections NOS) or (gonorrhea) | (Gonococcal infections NOS) or (gonorrhoea) | (Gonococcal infections NOS) or (gonorrhoea) (disorder) | Clap | GC - Gonococcus infection | GCI - Gonococcal infection | Gonococcal infection | Gonococcal infections NOS | Gonorrhea | Gonorrhea (disorder) | Gonorrhoea | Infection due to Neisseria gonorrhoeae | gonorrhea
BMGC_DS00997,BMG_DS001284,Gout | Gout (disorder) | gout
BMGC_DS00998,BMG_DS001286,Graft vs Host Disease | Graft-vs-Host Disease | graft versus host disease | graft-versus-host disease
BMGC_DS00999,BMG_DS001287,"Corneal Dystrophies, Hereditary | Granular Dystrophy, Corneal | corneal granular dystrophy | granular corneal dystrophy"
BMGC_DS01000,BMG_DS001288,Granuloma Inguinale | granuloma inguinale
BMGC_DS01001,BMG_DS001290,lethal midline granuloma | nasal cavity and paranasal sinus lethal midline granuloma
BMGC_DS01002,BMG_DS001291,"Granuloma, Respiratory Tract"
BMGC_DS01003,BMG_DS001292,"Granulomatous Angiitis | Vasculitis, Central Nervous System | granulomatous angiitis"
BMGC_DS01004,BMG_DS001293,CGD - Chronic granulomatous disease | Chronic granulomatous disease | Chronic granulomatous disease (disorder) | Congenital dysphagocytosis | Granulomatous disease | chronic granulomatous disease
BMGC_DS01005,BMG_DS001295,granulosa cell tumor
BMGC_DS01006,BMG_DS001296,Graves Disease | Graves disease | Graves' disease
BMGC_DS01007,BMG_DS001297,"Corneal Dystrophies, Hereditary | Groenouw's Dystrophies"
BMGC_DS01008,BMG_DS001298,Guillain-Barre Syndrome | Guillain-Barre syndrome
BMGC_DS01009,BMG_DS001299,Gynatresia | gynatresia
BMGC_DS01010,BMG_DS001300,(Breasts enlarged) or (hypertrophy) or (gynaecomastia) | (Breasts enlarged) or (hypertrophy) or (gynaecomastia) (disorder) | (Breasts enlarged) or (hypertrophy) or (gynaecomastia) (finding) | (Breasts enlarged) or (hypertrophy) or (gynecomastia) | Bilateral gynaecomastia | Bilateral gynecomastia | Breast hypertrophy | Breasts enlarged | Enlarged breasts | Gynaecomastia | Gynaecomastia (& [bilateral] or [unilateral]) | Gynaecomastia (& [bilateral] or [unilateral]) (disorder) | Gynaecomazia | Gynecomastia | Gynecomastia (& [bilateral] or [unilateral]) | Gynecomastia (disorder) | Gynecomazia | Hypertrophy - breast | Hypertrophy of male breast | Unilateral gynaecomastia | Unilateral gynecomastia | gynecomastia | gynecomastia disorder
BMGC_DS01011,BMG_DS001301,Gyrate Atrophy | gyrate atrophy | ornithine aminotransferase deficiency
BMGC_DS01012,BMG_DS001304,Haemonchiasis | haemonchiasis
BMGC_DS01013,BMG_DS001305,Haemophilus Infections | haemophilus infectious disease
BMGC_DS01014,BMG_DS001306,Hair Diseases | hair disease
BMGC_DS01015,BMG_DS001308,Hallermann's Syndrome | Hallermann-Streiff syndrome
BMGC_DS01016,BMG_DS001309,Hallervorden-Spatz Syndrome | Pantothenate Kinase-Associated Neurodegeneration | pantothenate kinase-associated neurodegeneration
BMGC_DS01017,BMG_DS001310,hallucinogen abuse
BMGC_DS01018,BMG_DS001311,hallucinogen dependence
BMGC_DS01019,BMG_DS001313,hamartoma
BMGC_DS01020,BMG_DS001314,Cowden disease | Cowden syndrome
BMGC_DS01021,BMG_DS001315,Hand Dermatoses | hand dermatosis
BMGC_DS01022,BMG_DS001316,"Hand, Foot and Mouth Disease | hand, foot and mouth disease"
BMGC_DS01023,BMG_DS001317,Hartnup Disease | Hartnup disease
BMGC_DS01024,BMG_DS001318,Hashish Abuse | Marijuana Abuse
BMGC_DS01025,BMG_DS001319,Allergic rhinitis caused by pollen | Allergic rhinitis caused by pollen (disorder) | Allergic rhinitis caused by pollens | Allergic rhinitis due to pollen | Hay fever | Hayfever | Pollinosis | Seasonal allergic rhinitis | Seasonal allergic rhinitis (disorder) | seasonal allergic rhinitis
BMGC_DS01026,BMG_DS001320,head and neck cancer | head and neck neoplasm
BMGC_DS01027,BMG_DS001321,"Hearing Loss, Bilateral"
BMGC_DS01028,BMG_DS001323,CD - Conductive deafness | CHL - Conductive hearing loss | Conductive deafness | Conductive hearing loss | Conductive hearing loss (disorder) | conductive hearing loss disorder
BMGC_DS01029,BMG_DS001324,"Hearing Loss, High-Frequency"
BMGC_DS01030,BMG_DS001325,noise induced hearing loss
BMGC_DS01031,BMG_DS001326,sensorineural hearing loss | sensorineural hearing loss disorder
BMGC_DS01032,BMG_DS001327,Heart Aneurysm | heart aneurysm
BMGC_DS01033,BMG_DS001328,Cardiac Arrest | Heart Arrest | cardiac arrest
BMGC_DS01034,BMG_DS001329,Heart Block
BMGC_DS01035,BMG_DS001330,congenital heart disease
BMGC_DS01036,BMG_DS001331,Heart Diseases | heart disease | heart disorder
BMGC_DS01037,BMG_DS001332,Cardiac failure | Cardiac insufficiency | HF - Heart failure | Heart failure | Heart failure (disorder) | Myocardial failure | Weak heart | congestive heart failure | heart failure
BMGC_DS01038,BMG_DS001333,Biventricular failure | CCF - Congestive cardiac failure | CHF - Congestive heart failure | Congestive cardiac failure | Congestive heart disease | Congestive heart failure | Congestive heart failure (disorder) | Heart failure: [right] or [congestive] | Heart failure: [right] or [congestive] (disorder) | Right heart failure | Right ventricular failure | congestive heart failure
BMGC_DS01039,BMG_DS001334,heart cancer | heart neoplasm
BMGC_DS01040,BMG_DS001336,"Heart Rupture, Post-Infarction"
BMGC_DS01041,BMG_DS001337,heart septal defect
BMGC_DS01042,BMG_DS001338,atrial heart septal defect | atrial septal defect
BMGC_DS01043,BMG_DS001339,ventricular septal defect
BMGC_DS01044,BMG_DS001340,Disorder of heart valve | Heart valve disease | Heart valve disorder | Heart valve disorder (disorder) | Valvular heart disease | heart valve disease | heart valve disorder
BMGC_DS01045,BMG_DS001342,heavy chain disease
BMGC_DS01046,BMG_DS001343,gamma-heavy chain disease | heavy chain disease
BMGC_DS01047,BMG_DS001345,Helminth infection | Helminthiasis | Helminthiasis (disorder) | Helminthosis | Infection caused by Cestoda and/or Trematoda and/or Phylum Nemata | Infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda | Infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda (disorder) | Worm infection | Worm infestation | Worms | helminthiasis | parasitic helminthiasis infectious disease
BMGC_DS01048,BMG_DS001346,"Helminthiasis, Animal | helminthiasis, animal"
BMGC_DS01049,BMG_DS001348,hemangioma
BMGC_DS01050,BMG_DS001349,cavernous hemangioma
BMGC_DS01051,BMG_DS001350,hemangiopericytoma
BMGC_DS01052,BMG_DS001351,angiosarcoma
BMGC_DS01053,BMG_DS001352,hemarthrosis
BMGC_DS01054,BMG_DS001354,Haematocoele | Haematocoele of tunica vaginalis testis | Hematocele | Hematocele of tunica vaginalis testis | Male haematocele | Male hematocele | Male hematocele (disorder) | hematocele of tunica vaginalis testis
BMGC_DS01055,BMG_DS001355,BRBPR - Bright red blood per rectum | Blood in faeces | Blood in feces | Blood in stool | Blood in stool (disorder) | Bloody stool | Bright red blood in stool | Bright red blood per rectum | Faeces: blood | Feces: blood | Fresh blood passed per rectum | Gastrointestinal Hemorrhage | Haematochezia | Hematochezia | Hematochezia (finding) | Passage of bloody stools
BMGC_DS01056,BMG_DS001357,Hematologic Diseases | Hematological Disease | hematologic disorder | hematopoietic system disease
BMGC_DS01057,BMG_DS001358,hemometra
BMGC_DS01058,BMG_DS001359,Haematomyelia | Hematomyelia | Hematomyelia (disorder) | Intramedullary haemorrhage | Intramedullary hemorrhage | Spinal Cord Vascular Diseases
BMGC_DS01059,BMG_DS001361,Blood in urine | Blood in urine (finding) | Essential haematuria | Essential hematuria | Haematuria | Haematuria (& [traumatic] or [essential]) | Haematuria (& [traumatic] or [essential]) (disorder) | Haematuria (disorder) | Hematuria | Hematuria (& [traumatic] or [essential]) | Traumatic haematuria | Traumatic hematuria
BMGC_DS01060,BMG_DS001362,Day blindness | Day blindness (disorder) | Difficulty seeing at night | Hemeralopia | Night blindness | Night blindness (disorder) | Nyctalopia | Vision Disorders
BMGC_DS01061,BMG_DS001365,hemiplegia
BMGC_DS01062,BMG_DS001366,Biliary Tract Hemorrhage | Hemobilia
BMGC_DS01063,BMG_DS001367,"Bronzed cirrhosis | Bronzed diabetes | Copper disorder | Familial haemochromatosis | Familial hemochromatosis | Haemochromatosis | Hemochromatosis | Hemochromatosis (disorder) | Hereditary haemochromatosis | Hereditary hemochromatosis | Idiopathic haemochromatosis | Idiopathic hemochromatosis | Iron &/or copper &/or magnesium disorder (& [haemochromatosis] or [Wilson's disease]) | Iron &/or copper &/or magnesium disorder (& [haemochromatosis] or [Wilson's disease]) (disorder) | Iron &/or copper &/or magnesium disorder (& [hemochromatosis] or [Wilson's disease]) | Iron disorder | Iron storage disease | Iron, copper, magnesium disord | Iron, copper, magnesium metabolism disorder | Magnesium disorder | Pigmentary cirrhosis of liver | Primary haemochromatosis | Primary hemochromatosis | Wilson's disease | hemochromatosis | von Recklinghausen-Appelbaum disease | von Recklinghausen-Applebaum disease"
BMGC_DS01064,BMG_DS001368,Hemoglobin C Disease | hemoglobin C disease
BMGC_DS01065,BMG_DS001369,Hemoglobin F Disease | beta-Thalassemia | hereditary persistence of fetal hemoglobin
BMGC_DS01066,BMG_DS001370,Hemoglobin SC Disease | sickle cell anemia | sickle cell-hemoglobin c disease syndrome
BMGC_DS01067,BMG_DS001371,Hemoglobinopathies | hemoglobinopathy | inherited hemoglobinopathy
BMGC_DS01068,BMG_DS001372,hemoglobinuria
BMGC_DS01069,BMG_DS001374,"Hemoglobinuria, Paroxysmal | paroxysmal nocturnal hemoglobinuria"
BMGC_DS01070,BMG_DS001375,Hemolytic-Uremic Syndrome | hemolytic-uremic syndrome
BMGC_DS01071,BMG_DS001376,hemopericardium
BMGC_DS01072,BMG_DS001377,"Lymphohistiocytosis, Hemophagocytic | Reactive Hemophagocytic Syndrome"
BMGC_DS01073,BMG_DS001378,AHG deficiency disease | Classical haemophilia | Classical hemophilia | Congenital factor VIII deficiency disease | Haemophilia A | Hemophilia A | Hereditary factor VIII deficiency disease | Hereditary factor VIII deficiency disease (disorder) | Sex-linked factor VIII deficiency | factor VIII deficiency | hemophilia A
BMGC_DS01074,BMG_DS001379,Haemopneumothorax | Haemothorax | Hemopneumothorax | Hemopneumothorax (disorder) | Pneumohaemothorax | Pneumohemothorax | hemopneumothorax
BMGC_DS01075,BMG_DS001380,Hemorrhagic Disorders | hemorrhagic disease
BMGC_DS01076,BMG_DS001381,Hemorrhagic Disease of Newborn | Vitamin K Deficiency Bleeding | hemorrhagic disease of newborn
BMGC_DS01077,BMG_DS001384,"Crimean-Congo hemorrhagic fever | Hemorrhagic Fever, Crimean"
BMGC_DS01078,BMG_DS001385,Dengue hemorrhagic fever | Severe Dengue | dengue hemorrhagic fever
BMGC_DS01079,BMG_DS001386,Hantavirus hemorrhagic fever with renal syndrome | Hemorrhagic Fever with Renal Syndrome | hemorrhagic fever-renal syndrome
BMGC_DS01080,BMG_DS001387,"Hemorrhagic Fever, Omsk | Omsk hemorrhagic fever"
BMGC_DS01081,BMG_DS001389,Haemorrhoid | Haemorrhoids | Hemorrhoid | Hemorrhoids | Hemorrhoids (disorder) | Piles | Piles - haemorrhoids | Piles - hemorrhoids | hemorrhoid
BMGC_DS01082,BMG_DS001390,Haemosiderosis | Hemosiderosis | Hemosiderosis (disorder) | hemosiderosis
BMGC_DS01083,BMG_DS001392,Hepatic Coma | Hepatic Encephalopathy | hepatic coma
BMGC_DS01084,BMG_DS001393,Hepatic Encephalopathy | hepatic encephalopathy
BMGC_DS01085,BMG_DS001394,Budd-Chiari Syndrome | Budd-Chiari syndrome | Hepatic Vein Thrombosis | hepatic vein thrombosis
BMGC_DS01086,BMG_DS001395,Hepatic Veno-Occlusive Disease | hepatic veno-occlusive disease
BMGC_DS01087,BMG_DS001396,Hepatitis | Hepatitis (disorder) | Inflammatory disease of liver | Inflammatory disease of liver (disorder) | Inflammatory disorder of liver | Inflammatory liver disease | hepatitis
BMGC_DS01088,BMG_DS001397,"Hepatitis A | IH - Infectious hepatitis | Infectious hepatitis | Viral hepatitis, type A | Viral hepatitis, type A (disorder) | hepatitis A | hepatitis A virus infection"
BMGC_DS01089,BMG_DS001398,Hepatitis B | Hepatitis B infection | SH - Serum hepatitis | Serum hepatitis | Type B viral hepatitis | Viral hepatitis type B | Viral hepatitis type B (disorder) | hepatitis B | hepatitis B virus infection
BMGC_DS01090,BMG_DS001399,"Hepatitis, Alcoholic | alcoholic hepatitis"
BMGC_DS01091,BMG_DS001400,"Hepatitis, Animal | hepatitis, non-human animal"
BMGC_DS01092,BMG_DS001401,"Hepatitis, Chronic | hepatitis"
BMGC_DS01093,BMG_DS001403,"Hepatitis, Viral, Animal | hepatitis, viral, animal | viral hepatitis"
BMGC_DS01094,BMG_DS001404,"Hepatitis, Viral, Human"
BMGC_DS01095,BMG_DS001405,Hepatitis C | Hepatitis C (disorder) | Type C viral hepatitis | Viral hepatitis C | Viral hepatitis type C | Viral hepatitis type C (disorder) | hepatitis C | hepatitis C virus infection
BMGC_DS01096,BMG_DS001406,Hepatolenticular Degeneration | Wilson disease
BMGC_DS01097,BMG_DS001407,Hepatorenal Syndrome | hepatorenal syndrome
BMGC_DS01098,BMG_DS001408,"Angioedemas, Hereditary | hereditary angioedema"
BMGC_DS01099,BMG_DS001409,"Genetic Diseases, Inborn | Hereditary Diseases | genetic disease | hereditary disease"
BMGC_DS01100,BMG_DS001411,hermaphroditism
BMGC_DS01101,BMG_DS001412,congenital diaphragmatic hernia
BMGC_DS01102,BMG_DS001413,inguinal hernia
BMGC_DS01103,BMG_DS001414," | Hernia, Inguinal | Inguinal Hernia, Direct | inguinal hernia | obsolete inguinal hernia"
BMGC_DS01104,BMG_DS001415,inguinal hernia
BMGC_DS01105,BMG_DS001418,heroin dependence
BMGC_DS01106,BMG_DS001419,(Other coxsackie disease) or (herpangina) | (Other coxsackie disease) or (herpangina) (disorder) | Enteroviral vesicular pharyngitis | Enteroviral vesicular pharyngitis (disorder) | Herpangina | Herpangina (disorder) | Other coxsackie disease | herpangina
BMGC_DS01107,BMG_DS001420,Genital Herpes | Herpes Genitalis | genital herpes
BMGC_DS01108,BMG_DS001422,Herpes Labialis | herpes labialis
BMGC_DS01109,BMG_DS001423,Herpes simplex | Herpes simplex (disorder) | Herpes simplex complex | Herpes simplex infection | Herpes simplex viral infection | herpes simplex | herpes simplex infectious disease
BMGC_DS01110,BMG_DS001424,"Keratitis, Herpetic | herpes simplex virus keratitis"
BMGC_DS01111,BMG_DS001426,Herpes zoster | Herpes zoster (disorder) | Herpes zoster infection | Shingles | Zona | Zoster | herpes zoster
BMGC_DS01112,BMG_DS001428,Herpes Zoster Ophthalmicus | ophthalmic herpes zoster
BMGC_DS01113,BMG_DS001429,Herpes zoster | Herpes zoster (disorder) | Herpes zoster infection | Herpes zoster without mention of complication | Shingles | Zona | Zoster
BMGC_DS01114,BMG_DS001430,Herpesviridae Infections | Herpesviridae infectious disease
BMGC_DS01115,BMG_DS001433,"Deficiency, Hexosediphosphatase | Fructose-1,6-Diphosphatase Deficiency"
BMGC_DS01116,BMG_DS001434,hidradenoma | sweat gland adenoma
BMGC_DS01117,BMG_DS001435,High Pressure Neurological Syndrome | high pressure neurological syndrome
BMGC_DS01118,BMG_DS001438,von Hippel-Lindau disease
BMGC_DS01119,BMG_DS001439,Hirschsprung Disease | Hirschsprung disease | Hirschsprung's disease
BMGC_DS01120,BMG_DS001441,"Excessive growth of hair | Excessive hair growth | Excessive hair growth (disorder) | Hairiness | Hirsutes | Hirsuties | Hirsutism | Hirsutism (disorder) | Hirsutism, unspecified | Pilosis"
BMGC_DS01121,BMG_DS001442,(Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | Hirudiniasis | Hirudiniasis - leech infestation | Leech infestation | Leech infestation (disorder) | Leeches | Maggot infestation | Myiasis | Other infect. and parasit.dis. | Other infectious and parasitic diseases | Toxoplasmosis | hirudiniasis | leech infestation
BMGC_DS01122,BMG_DS001443,malignant histiocytic disease
BMGC_DS01123,BMG_DS001444,histiocytosis
BMGC_DS01124,BMG_DS001445,Langerhans cell histiocytosis | Langerhans-cell histiocytosis
BMGC_DS01125,BMG_DS001447,"Histiocytosis, Non-Langerhans-Cell | non-Langerhans cell histiocytosis | non-Langerhans-cell histiocytosis"
BMGC_DS01126,BMG_DS001448,sinus histiocytosis with massive lymphadenopathy
BMGC_DS01127,BMG_DS001449,Histomoniasis | Histomonosis | Infection by Histomonas | Infection caused by Histomonas | Infection caused by Histomonas (disorder) | Protozoan Infections | protozoa infectious disease
BMGC_DS01128,BMG_DS001450,Aspergillosis | Coccidioidomycosis | Histoplasmosis | Histoplasmosis (disorder) | Mycoses - other | Other mycoses | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Piedra | Sporotrichosis | histoplasmosis
BMGC_DS01129,BMG_DS001451,histrionic personality disorder
BMGC_DS01130,BMG_DS001452,HIV Infections | HIV infectious disease | human immunodeficiency virus infectious disease
BMGC_DS01131,BMG_DS001453,"Hereditary Sensory and Motor Neuropathy | Hereditary, Type VII, Motor and Sensory Neuropathy"
BMGC_DS01132,BMG_DS001454,Hodgkin's lymphoma | classic Hodgkin lymphoma
BMGC_DS01133,BMG_DS001456,Homocystinuria | Homocystinuria (disorder) | homocystinuria
BMGC_DS01134,BMG_DS001457,Hookworm Infections
BMGC_DS01135,BMG_DS001458,(Stye &/or [hordeolum]) or (cellulitis eyelid) or (meibomian cyst) | (Stye &/or [hordeolum]) or (cellulitis eyelid) or (meibomian cyst) (disorder) | Boil of eyelid | Cellulitis - eyelid | Cellulitis of eyelid | Furuncle of eyelid | Hordeolum | Hordeolum (disorder) | Hordeolum externum | Meibomian cyst | Sty | Stye | Stye (disorder) | Stye/hordeolum | hordeolum
BMGC_DS01136,BMG_DS001460,"Boil of eyelid | External hordeolum | Furuncle of eyelid | Hordeolum | Hordeolum externum | Hordeolum externum (disorder) | Hordeolum, external | Sty | Stye | Stye (disorder) | hordeolum externum"
BMGC_DS01137,BMG_DS001461,Horner Syndrome | Horner syndrome | Horner's syndrome
BMGC_DS01138,BMG_DS001462,Horse Diseases | horse disease
BMGC_DS01139,BMG_DS001463,"Hereditary Sensory Autonomic Neuropathy, Type 1 | Hereditary Sensory and Autonomic Neuropathies | hereditary sensory and autonomic neuropathy type 1 | hereditary sensory neuropathy"
BMGC_DS01140,BMG_DS001464,"Hereditary Sensory Autonomic Neuropathy, Type 2 | Hereditary Sensory and Autonomic Neuropathies | hereditary sensory and autonomic neuropathy type 2 | hereditary sensory neuropathy"
BMGC_DS01141,BMG_DS001465,HSAN Type IV | Hereditary Sensory and Autonomic Neuropathies | hereditary sensory and autonomic neuropathy type 4 | hereditary sensory neuropathy | hereditary sensory neuropathy type 4
BMGC_DS01142,BMG_DS001466,"Hereditary Sensory Autonomic Neuropathy, Type 5 | Hereditary Sensory and Autonomic Neuropathies | hereditary sensory and autonomic neuropathy type 5 | hereditary sensory neuropathy"
BMGC_DS01143,BMG_DS001468,HTLV-I Infections | human T-lymphotropic virus 1 infectious disease
BMGC_DS01144,BMG_DS001470,Huntington Disease | Huntington disease | Huntington's disease
BMGC_DS01145,BMG_DS001471,Hyaline Membrane Disease | newborn respiratory distress syndrome
BMGC_DS01146,BMG_DS001472,gestational trophoblastic neoplasm | hydatidiform mole
BMGC_DS01147,BMG_DS001473,polyhydramnios
BMGC_DS01148,BMG_DS001474,hydranencephaly
BMGC_DS01149,BMG_DS001475,Hydroa Vacciniforme | hydroa vacciniforme
BMGC_DS01150,BMG_DS001476,(Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) (disorder) | Child cerebral degeneration | Hydrocephalus | Hydrocephalus (disorder) | Hydrocephaly | Senile brain degen. | Senile degeneration of brain | hydrocephalus
BMGC_DS01151,BMG_DS001477,congenital hydrocephalus
BMGC_DS01152,BMG_DS001478,"Hydrocephalus, Normal Pressure | normal pressure hydrocephalus"
BMGC_DS01153,BMG_DS001479,Hydronephrosis | Hydronephrosis (disorder) | hydronephrosis
BMGC_DS01154,BMG_DS001480,congenital glaucoma | hydrophthalmos
BMGC_DS01155,BMG_DS001481,Hydrops Fetalis | hydrops fetalis
BMGC_DS01156,BMG_DS001482,"(Pleural effusion NOS) or (haemothorax) or (hydrothorax) | (Pleural effusion NOS) or (haemothorax) or (hydrothorax) (disorder) | (Pleural effusion NOS) or (hemothorax) or (hydrothorax) | Haemothorax | Hemothorax | Hydrothorax | Hydrothorax (disorder) | Pleural effusion NOS | Pleural effusion with transudate | Pleural, diaphragm or mediastinal disorders, unspecified"
BMGC_DS01157,BMG_DS001483,Dwarf tapeworm infection | Hymenolepiasis | Hymenolepiasis (& [dwarf] or [rat]) | Hymenolepiasis (& [dwarf] or [rat]) (disorder) | Hymenolepiasis (disorder) | Hymenolepiosis | Rat tapeworm infection | hymenolepiasis
BMGC_DS01158,BMG_DS001484,Adrenal disorders: [other] or [Conn's syndrome] or [hyperaldosteronism] or [Waterhouse-Friderichen] | Adrenal disorders: [other] or [Conn's syndrome] or [hyperaldosteronism] or [Waterhouse-Friderichen] (disorder) | Aldosteronism | Aldosteronism (disorder) | Bartter's syndrome | Conn's syndrome | Hyperaldosteronism | Hyperaldosteronism (& [Bartter's syndrome] or [Conn's syndrome]) | Hyperaldosteronism (& [Bartter's syndrome] or [Conn's syndrome]) (disorder) | Other adrenal disorders | Waterhouse-Friderichen | hyperaldosteronism | primary hyperaldosteronism
BMGC_DS01159,BMG_DS001485,Bilirubinaemia | Bilirubinemia | Gilbert's syndrome | Hyperbilirubinaemia | Hyperbilirubinaemia (& [Gilbert's syndrome]) | Hyperbilirubinaemia (& [Gilbert's syndrome]) (disorder) | Hyperbilirubinemia | Hyperbilirubinemia (& [Gilbert's syndrome]) | Hyperbilirubinemia (disorder) | bilirubin metabolic disorder
BMGC_DS01160,BMG_DS001486,"Hyperbilirubinemia, Hereditary | bilirubin metabolic disorder | hereditary hyperbilirubinemia"
BMGC_DS01161,BMG_DS001487,"(Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Calcium disorder | Hypercalcaemia | Hypercalcaemia syndrome | Hypercalcemia | Hypercalcemia (disorder) | Hypercalcemia syndrome | Hypercalcinuria | Hypocalcaemia | Hypocalcemia | Nephrocalcinosis | Phosphorus and calcium disorders | Phosphorus disorder | Phosphorus, calcium disorders | hypercalcemia | hypercalcemia disease"
BMGC_DS01162,BMG_DS001488,Cementation hyperplasia | Cementosis | Cementum dysplasia | Cementum hyperplasia | Hypercementosis | Hypercementosis (disorder) | hypercementosis
BMGC_DS01163,BMG_DS001489,(Hypercholesterolaemia: [pure] or [familial]) or (xanthoma - congenital) | (Hypercholesterolaemia: [pure] or [familial]) or (xanthoma - congenital) (disorder) | (Hypercholesterolemia: [pure] or [familial]) or (xanthoma - congenital) | Cholesterolaemia-famil. | Congenital xanthoma | High cholesterol | Hypercholesterolaemia | Hypercholesterolemia | Hypercholesterolemia (disorder) | Pure hypercholesterolaemia | Pure hypercholesterolemia | Xanthoma - congenital
BMGC_DS01164,BMG_DS001490,"Hypercholesterolemia, Familial | Hyperlipoproteinemia Type II | familial hypercholesterolemia"
BMGC_DS01165,BMG_DS001491,hyperemesis gravidarum
BMGC_DS01166,BMG_DS001493,Engorgement | Erythema | Erythema (finding) | Erythema - observation | Hyperaemia | Hyperemia | Hyperemia (morphologic abnormality) | Local congestion | Vascular engorgement
BMGC_DS01167,BMG_DS001495,(Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) (disorder) | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinemia) | Erythrocytosis - familial | Familial erythrocytosis | Hypergammaglobulinaemia | Hypergammaglobulinemia | Hypergammaglobulinemia (finding) | Other blood diseases
BMGC_DS01168,BMG_DS001496,(Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycaemia) | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycaemia) (procedure) | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycemia) | Blood glucose result | Blood sugar result | Glucose result - blood | Hyperglycaemia | Hyperglycaemia (disorder) | Hyperglycemia | Hyperglycemia (disorder) | Plasma glucose level | Sugar result - blood | hyperglycemia
BMGC_DS01169,BMG_DS001497,Hyperglycemic Hyperosmolar Nonketotic Coma
BMGC_DS01170,BMG_DS001498,(Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) (disorder) | Hyperinsulinaemia | Hyperinsulinemia | Hyperinsulinism | Hyperinsulinism (disorder) | Other pancreatic secretion dis | Zollinger - Ellison syndrome | Zollinger-Ellison syndr | Zollinger-Ellison syndrome | hyperinsulinism
BMGC_DS01171,BMG_DS001499,Disorder of lipid metabolism | Disorders of lipid metabolism | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidaemia]) | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidaemia]) (disorder) | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidemia]) | Fredrickson types | HLD - Hyperlipidaemia | HLD - Hyperlipidemia | Hyperlipidaemia | Hyperlipidemia | Hyperlipidemia (disorder) | Hyperlipidemias | Lipid metabol. disorder | Lipidaemia | Lipidemia | familial hyperlipidemia | hyperlipidemia
BMGC_DS01172,BMG_DS001500,"Hyperlipidemia, Familial Combined | familial combined hyperlipidemia | hyperlipidemia, familial combined, LPL related | obsolete familial combined hyperlipidemia"
BMGC_DS01173,BMG_DS001501,Hyperlipoproteinemias | familial hyperlipidemia | hyperlipoproteinemia
BMGC_DS01174,BMG_DS001502,Hyperlipoproteinemia Type III | hyperlipoproteinemia type 3 | hyperlipoproteinemia type III
BMGC_DS01175,BMG_DS001503,Hyperlipoproteinemia Type IV | hyperlipoproteinemia type IV | obsolete hyperlipoproteinemia type IV
BMGC_DS01176,BMG_DS001504,Hyperlipoproteinemia Type V | hyperlipoproteinemia type V
BMGC_DS01177,BMG_DS001505,Hypernatraemia | Hypernatremia | Hypernatremia (disorder) | Hyperosmolality &/or hypernatraemia | Hyperosmolality &/or hypernatraemia (disorder) | Hyperosmolality &/or hypernatremia | Hyperosmolality and or hypernatraemia | Hyperosmolality and or hypernatremia | Na excess | Na overload | Sodium overload | Sodium retention
BMGC_DS01178,BMG_DS001506,Farsightedness | Hypermetropia | Hypermetropia (disorder) | Hyperopia | Longsighted | Longsightedness | hyperopia
BMGC_DS01179,BMG_DS001507,Bony overgrowth | Hyperostosis | Hypertrophy of bone | Hypertrophy of bone (morphologic abnormality) | hyperostosis
BMGC_DS01180,BMG_DS001509,Hyperostosis of skull | Hyperostosis of skull (disorder) | Hyperostosis of skull (finding) | Large head | Large head (disorder) | Large skull | Skull enlargement | sclerosteosis 1 | sclerosteosis 2
BMGC_DS01181,BMG_DS001510,"Caffey disease | Cortical Congenital Hyperostosis | Hyperostosis, Cortical, Congenital"
BMGC_DS01182,BMG_DS001511,"Hyperostosis, Diffuse Idiopathic Skeletal | diffuse idiopathic skeletal hyperostosis"
BMGC_DS01183,BMG_DS001513,Hyperoxaluria | Hyperoxaluria (disorder) | primary hyperoxaluria
BMGC_DS01184,BMG_DS001514,"Hyperoxaluria, Primary | Primary Hyperoxaluria | primary hyperoxaluria"
BMGC_DS01185,BMG_DS001515,HPTH - Hyperparathyroidism | Hyperparathyroidism | Hyperparathyroidism (& [osteitis fibrosa cystica] or [Von Recklinghausen's bone disease]) | Hyperparathyroidism (& [osteitis fibrosa cystica] or [Von Recklinghausen's bone disease]) (disorder) | Hyperparathyroidism (disorder) | Osteitis fibrosa cystica | Von Recklinghausen's bone disease | hyperparathyroidism
BMGC_DS01186,BMG_DS001516,"Hyperparathyroidism, Secondary | secondary hyperparathyroidism"
BMGC_DS01187,BMG_DS001517,Anterior pituitary hyperfunction | Hyperpituitarism | Hyperpituitarism (disorder) | Pituitary hyperfunction | Pituitary hyperfunction (ant.) | hyperpituitarism
BMGC_DS01188,BMG_DS001518,hyperplasia
BMGC_DS01189,BMG_DS001519,Hyperprolactinaemia | Hyperprolactinaemia (disorder) | Hyperprolactinemia | Hyperprolactinemia (disorder) | Idiopathic hyperprolactinaemia | Idiopathic hyperprolactinemia | Idiopathic hyperprolactinemia (disorder) | hyperprolactinemia
BMGC_DS01190,BMG_DS001520,allergic disease
BMGC_DS01191,BMG_DS001521,type IV hypersensitivity disease
BMGC_DS01192,BMG_DS001522,Hypersomnia with Periodic Respiration | Sleep Apnea Syndromes
BMGC_DS01193,BMG_DS001523,Big spleen syndrome | Diseases of spleen | Diseases of spleen (& [hypersplenism] or [infarct]) | Diseases of spleen (& [hypersplenism] or [infarct]) (disorder) | Dyssplenism | Hypersplenia | Hypersplenism | Hypersplenism (disorder) | Spleen disease | Splenic infarct | hypersplenism
BMGC_DS01194,BMG_DS001524,"(Hypertensive disease) or (hypertension) | (Hypertensive disease) or (hypertension) (disorder) | BP - High blood pressure | BP+ - Hypertension | HBP - High blood pressure | HT - Hypertension | HTN - Hypertension | High blood pressure | High blood pressure disorder | Hypertension | Hypertensive disease | Hypertensive disease (disorder) | Hypertensive disorder | Hypertensive disorder, systemic arterial | Hypertensive disorder, systemic arterial (disorder) | Hypertensive vascular degeneration | Hypertensive vascular disease | Systemic arterial hypertension | hypertension | hypertensive disorder"
BMGC_DS01195,BMG_DS001525,"Hypertension, Malignant | Malignant Hypertension | malignant hypertension"
BMGC_DS01196,BMG_DS001526,"Hypertension, Portal | Portal Hypertension | portal hypertension"
BMGC_DS01197,BMG_DS001527,pulmonary hypertension
BMGC_DS01198,BMG_DS001528,(Renal hypertension) or (hypertensive renal disease NOS) | (Renal hypertension) or (hypertensive renal disease NOS) (disorder) | Hypertensive renal disease NOS | Renal hypertension | Renal hypertension (disorder) | renal hypertension
BMGC_DS01199,BMG_DS001529,"Hypertension, Renovascular | renovascular hypertension"
BMGC_DS01200,BMG_DS001530,"([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goiter) | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) (disorder) | Goiter - toxic | Goitre - toxic | Graves disease | Graves' disease | Hyperthyroidism | Hyperthyroidism (disorder) | Nodule - thyroid, toxic | Thyrotoxicosis | Thyrotoxicosis +/- goiter | Thyrotoxicosis +/- goitre | Thyrotoxicosis: [+/- goiter] or [toxic goiter] or [Graves disease] or [thyroid nodule] | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] (disorder) | Toxic goiter | Toxic goitre | Toxic thyroid nodule | hyperthyroidism"
BMGC_DS01201,BMG_DS001531,Hyperthyroxinemia | hyperthyroxinemia
BMGC_DS01202,BMG_DS001532,Excessive hairiness | Hirsutism - hypertrichosis | Hypertrichiasis | Hypertrichosis | Hypertrichosis (disorder) | Polytrichia | Polytrichosis | hypertrichosis
BMGC_DS01203,BMG_DS001533,Hypertriglyceridaemia | Hypertriglyceridemia | Hypertriglyceridemia (disorder)
BMGC_DS01204,BMG_DS001534,Hypertrophic elongation of cervix | Hypertrophic elongation of cervix (disorder) | hypertrophic elongation of cervix
BMGC_DS01205,BMG_DS001535,hypertrophy of breast
BMGC_DS01206,BMG_DS001536,Hypertropia | Hypertropia (disorder) | Strabismus | Vertical or torsional strabismus | hypertropia
BMGC_DS01207,BMG_DS001537,Hypervitaminosis A | Hypervitaminosis A (disorder) | hypervitaminosis A
BMGC_DS01208,BMG_DS001539,hypoactive sexual desire disorder
BMGC_DS01209,BMG_DS001540,Aldosterone deficiency | Aldosterone deficiency (disorder) | Hypoaldosteronism
BMGC_DS01210,BMG_DS001541,Hypobetalipoproteinemias | hypobetalipoproteinemia
BMGC_DS01211,BMG_DS001542,"(Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Calcium deficiency disease | Calcium disorder | Hypercalcaemia | Hypercalcemia | Hypercalcinuria | Hypocalcaemia | Hypocalcaemia syndrome | Hypocalcemia | Hypocalcemia (disorder) | Hypocalcemia syndrome | Nephrocalcinosis | Phosphorus and calcium disorders | Phosphorus disorder | Phosphorus, calcium disorders"
BMGC_DS01212,BMG_DS001543,Hypocalciuria | Hypocalciuria (disorder)
BMGC_DS01213,BMG_DS001544,hypochondriasis
BMGC_DS01214,BMG_DS001545,Hypodermyiasis | hypodermyiasis
BMGC_DS01215,BMG_DS001546,tooth agenesis
BMGC_DS01216,BMG_DS001547,Decreased lactation | Decreased lactation (finding) | Hypogalactia | Hypolactation | Inadequate lactation | Insufficient lactation | Lactation Disorders | Poor lactation
BMGC_DS01217,BMG_DS001548,Hypoglycaemia | Hypoglycaemia (disorder) | Hypoglycemia | Hypoglycemia (disorder) | hypoglycemia
BMGC_DS01218,BMG_DS001549,Coma - insulin | Coma due to hypoglycaemia | Coma due to hypoglycemia | Coma due to hypoglycemia (disorder) | Coma: [hypoglycaemic] or [insulin] | Coma: [hypoglycaemic] or [insulin] (disorder) | Coma: [hypoglycemic] or [insulin] | Hypoglycaemic coma | Hypoglycaemic coma (& [insulin]) | Hypoglycaemic coma (& [insulin]) (disorder) | Hypoglycemic coma | Hypoglycemic coma (& [insulin]) | Hypoglycemic coma (disorder) | Insulin coma | hypoglycemic coma
BMGC_DS01219,BMG_DS001550,Hypogonadism | Hypogonadism (disorder) | hypogonadism
BMGC_DS01220,BMG_DS001551,"(Anhidrosis) or (hypohidrosis) or (oligohidrosis) | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) (disorder) | Anhidrosis | Hypohidrosis | Hypohidrosis (disorder) | Hypohidrosis, unspecified | Hypohydrosis | Oligohidrosis | hypohidrosis | obsolete hypohidrosis"
BMGC_DS01221,BMG_DS001552,hypolipoproteinemia
BMGC_DS01222,BMG_DS001553,(Hypomenorrhea) or (scanty periods) | (Hypomenorrhoea) or (scanty periods) | (Hypomenorrhoea) or (scanty periods) (disorder) | (Hypomenorrhoea) or (scanty periods) (finding) | Hypomenorrhea | Hypomenorrhea (finding) | Hypomenorrhoea | Light menstrual period | Menstruation Disturbances | Scanty period | Scanty periods | Spotting only at periods
BMGC_DS01223,BMG_DS001554,(Sodium deficiency) or (hyponatraemia) | (Sodium deficiency) or (hyponatraemia) (disorder) | (Sodium deficiency) or (hyponatremia) | Hypo-osmolality and or hyponatraemia | Hypo-osmolality and or hyponatremia | Hyponatraemia | Hyponatremia | Hyponatremia (finding) | Hyposmolality &/or hyponatraemia | Hyposmolality &/or hyponatraemia (disorder) | Hyposmolality &/or hyponatremia | Hyposmolality and or hyponatraemia | Hyposmolality and or hyponatremia | Sodium deficiency
BMGC_DS01224,BMG_DS001555,(Hypoparathyroidism) or (pseudo-hypoparathyroidism) or (tetany) | (Hypoparathyroidism) or (pseudo-hypoparathyroidism) or (tetany) (disorder) | Deficiency of PTH (parathyroid hormone) | Deficiency of parathyrin | Deficiency of parathyroid hormone | Hypoparathyroidism | Hypoparathyroidism (disorder) | Pseudo-hypoparathyroidism | Tetany | hypoparathyroidism
BMGC_DS01225,BMG_DS001557,Alkaline phosphatase deficiency | Hypophosphatasia | Hypophosphatasia (disorder) | hypophosphatasia
BMGC_DS01226,BMG_DS001559,Deficient secretion of one OR more pituitary hormones | Hypopituitarism | Hypopituitarism (disorder) | Pituitary deficiency | Pituitary failure | Pituitary hypofunction | Pituitary insufficiency | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | hypopituitarism | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type IB | isolated growth hormone deficiency type III
BMGC_DS01227,BMG_DS001560,(Plasma protein metabolism disorder: & [hyperproteinaemia] or [hypoproteinaemia]) or (Waldenstrom's macroglobulinaemia) | (Plasma protein metabolism disorder: & [hyperproteinaemia] or [hypoproteinaemia]) or (Waldenstrom's macroglobulinaemia) (disorder) | (Plasma protein metabolism disorder: & [hyperproteinemia] or [hypoproteinemia]) or (Waldenstrom's macroglobulinemia) | Hyperproteinaemia | Hyperproteinemia | Hypoproteinaemia | Hypoproteinemia | Hypoproteinemia (disorder) | Plasma protein metab. disorder | Waldenstrom's macroglob'naemia | Waldenstrom's macroglobulinaemia | Waldenstrom's macroglobulinemia
BMGC_DS01228,BMG_DS001561,Hypopyon | Hypopyon (disorder) | Pus in anterior chamber | hypopyon
BMGC_DS01229,BMG_DS001562,hypotensive disorder
BMGC_DS01230,BMG_DS001563,"Hypotension, Orthostatic | orthostatic hypotension"
BMGC_DS01231,BMG_DS001564,Hypothalamic Diseases | hypothalamic disease | hypothalamic disorder
BMGC_DS01232,BMG_DS001565,hypothalamic neoplasm
BMGC_DS01233,BMG_DS001566,Acquired hypothyroidism | Cretinism | Hypothyroid | Hypothyroidism | Hypothyroidism (disorder) | Hypothyroidism - congenital and acquired | Hypothyroidism - congenital and acquired (& [cretinism] or [myxedema]) | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) (disorder) | Hypothyroidism-congen.+ acqui. | Hypothyroidism: &/or (acquired) | Hypothyroidism: &/or (acquired) (disorder) | Myxedema | Myxoedema | Thyroid deficiency | hypothyroidism
BMGC_DS01234,BMG_DS001567,Hypotrichosis | Hypotrichosis (disorder) | hypotrichosis
BMGC_DS01235,BMG_DS001569,Mucolipidoses | Type II Mucolipidosis
BMGC_DS01236,BMG_DS001570,Iatrogenic Disease | iatrogenic disease
BMGC_DS01237,BMG_DS001571,Ichthyoses | Ichthyosis | ichthyosis
BMGC_DS01238,BMG_DS001572,Congenital ichthyosis | Congenital ichthyosis of skin | Congenital ichthyosis of skin (disorder) | Fish scale disease | Fish skin | Ichthyosis congenita
BMGC_DS01239,BMG_DS001573,Idiopathic Hypercatabolic Hypoproteinemia | Protein-Losing Enteropathies
BMGC_DS01240,BMG_DS001574,Brown induration of lung | IPH - Idiopathic pulmonary haemosiderosis | IPH - Idiopathic pulmonary hemosiderosis | Idiopathic pulmonary haemosiderosis | Idiopathic pulmonary haemosiderosis (disorder) | Idiopathic pulmonary hemosiderosis | Idiopathic pulmonary hemosiderosis (disorder) | Pulmonary haemosiderosis | Pulmonary hemosiderosis | pulmonary hemosiderosis
BMGC_DS01241,BMG_DS001576,benign ileal neoplasm | ileal neoplasm
BMGC_DS01242,BMG_DS001577,Ileitis | Ileitis (disorder) | ileitis
BMGC_DS01243,BMG_DS001578,Immune Complex Diseases | hypersensitivity reaction type III disease | type III hypersensitivity disease
BMGC_DS01244,BMG_DS001579,angioimmunoblastic T-cell lymphoma
BMGC_DS01245,BMG_DS001580,Immunologic Deficiency Syndromes | immunodeficiency disease | primary immunodeficiency disease
BMGC_DS01246,BMG_DS001581,Immune System Diseases | immune system disorder
BMGC_DS01247,BMG_DS001582,hypersensitivity reaction type IV disease | immunoproliferative disorder
BMGC_DS01248,BMG_DS001584,"(Impetigo) or (pemphigus neonatorum) | (Impetigo) or (pemphigus neonatorum) (disorder) | Impetigo | Impetigo (disorder) | Impetigo contagiosa | Impetigo, unspecified | Pemphigus neonatorum | impetigo"
BMGC_DS01249,BMG_DS001586,impulse control disorder
BMGC_DS01250,BMG_DS001587,Inappropriate ADH Syndrome | inappropriate ADH syndrome
BMGC_DS01251,BMG_DS001589,Bloch-Sulzberger syndrome | incontinentia pigmenti
BMGC_DS01252,BMG_DS001590,Group I leprosy | Indeterminate leprosy | Indeterminate leprosy (disorder) | Paucibacillary leprosy | Type I leprosy | indeterminate leprosy
BMGC_DS01253,BMG_DS001591,pseudohermaphroditism
BMGC_DS01254,BMG_DS001592,Infant Nutrition Disorders
BMGC_DS01255,BMG_DS001593,Neonatal disease | Neonatal disorder | Neonatal disorder (disorder)
BMGC_DS01256,BMG_DS001594,"Infant, Premature, Diseases"
BMGC_DS01257,BMG_DS001595,Infection - kidney | Infection of kidney | Infection of kidney (& [pyelonephritis &/or pyelitis]) | Infection of kidney (& [pyelonephritis &/or pyelitis]) (disorder) | Kidney infection | Pyelonephritis/pyelitis | Renal infection | renal infectious disease
BMGC_DS01258,BMG_DS001597,Infectious enteritis | Infectious enteritis of intestine | Infectious inflammation of intestine | Infectious inflammation of intestine (disorder) | Infective enteritis
BMGC_DS01259,BMG_DS001598,Infectious Mononucleosis | infectious mononucleosis
BMGC_DS01260,BMG_DS001599,(Infective otitis externa (& [cellulitis ear])) or (swimmers ear) | (Infective otitis externa (& [cellulitis ear])) or (swimmers ear) (disorder) | Cellulitis - ear | Infective OE | Infective OE (otitis externa) | Infective otitis externa | Infective otitis externa (disorder) | Swimmers ear | otitis externa
BMGC_DS01261,BMG_DS001600,infertility | infertility disorder
BMGC_DS01262,BMG_DS001601,Infertility due to extratesticular cause | Infertility due to extratesticular cause (disorder) | infertility due to extratesticular cause
BMGC_DS01263,BMG_DS001602,female infertility
BMGC_DS01264,BMG_DS001603,Male infertility | Male infertility (disorder) | male infertility
BMGC_DS01265,BMG_DS001604,Inflammatory Bowel Diseases | inflammatory bowel disease
BMGC_DS01266,BMG_DS001605,inflammatory spondylopathy
BMGC_DS01267,BMG_DS001606,"Flu | Grippe | Influenza | Influenza (disorder) | Influenza, Human | influenza"
BMGC_DS01268,BMG_DS001608,infratentorial cancer | infratentorial neoplasm
BMGC_DS01269,BMG_DS001609,Disorders of Environmental Origin
BMGC_DS01270,BMG_DS001611,"Sleep Initiation and Maintenance Disorders | sleep disorder, initiating and maintaining sleep"
BMGC_DS01271,BMG_DS001613,insulinoma | pancreatic insulinoma
BMGC_DS01272,BMG_DS001614,Intermittent Claudication | intermittent claudication | intermittent vascular claudication
BMGC_DS01273,BMG_DS001615,intermittent explosive disorder
BMGC_DS01274,BMG_DS001617,Intervertebral Disc Displacement | Intervertebral Disk Displacement
BMGC_DS01275,BMG_DS001619,Intestinal Atresia | intestinal atresia
BMGC_DS01276,BMG_DS001620,intestinal disaccharidase deficiency
BMGC_DS01277,BMG_DS001621,Intestinal Diseases | intestinal disease | intestinal disorder
BMGC_DS01278,BMG_DS001622,"Intestinal Diseases, Parasitic | parasitic intestinal disorder"
BMGC_DS01279,BMG_DS001624,intestinal benign neoplasm | intestinal neoplasm
BMGC_DS01280,BMG_DS001625,Intestinal Obstruction | intestinal obstruction
BMGC_DS01281,BMG_DS001626,Intestinal Perforation | intestinal perforation
BMGC_DS01282,BMG_DS001627,intestinal polyp
BMGC_DS01283,BMG_DS001628,Intestinal Pseudo-Obstruction | intestinal pseudo-obstruction
BMGC_DS01284,BMG_DS001630,Brain abscess | Intracranial abscess | Intracranial abscess (disorder) | Intracranial abscess(& [brain]) | Intracranial abscess(& [brain]) (disorder) | intracranial abscess
BMGC_DS01285,BMG_DS001632,"Diseases of the digestive system, unspecified | Introsusception | Intussusception | Intussusception (disorder) | Intussusception (morphologic abnormality) | intussusception"
BMGC_DS01286,BMG_DS001637,Ciliary body disorders | Disorders of iris &/or ciliary body (& [iridocyclitis]) | Disorders of iris &/or ciliary body (& [iridocyclitis]) (disorder) | Disorders of iris and ciliary body | Iridocyclitis | Iridocyclitis (disorder) | iridocyclitis
BMGC_DS01287,BMG_DS001638,Iris Diseases | iris disease | iris disorder
BMGC_DS01288,BMG_DS001639,iris cancer | iris neoplasm
BMGC_DS01289,BMG_DS001640,Iritis | Iritis (disorder) | iritis
BMGC_DS01290,BMG_DS001641,Irritable Bowel Syndrome | irritable bowel syndrome
BMGC_DS01291,BMG_DS001642,ischemia | ischemic disease
BMGC_DS01292,BMG_DS001644,insulinoma
BMGC_DS01293,BMG_DS001645,Ito hypomelanosis | hypomelanosis of Ito
BMGC_DS01294,BMG_DS001646,Jacksonian Seizure | Seizures
BMGC_DS01295,BMG_DS001647,CJD - Creutzfeldt-Jakob disease | Creutzfeldt Jacob disease | Creutzfeldt-Jakob disease | Creutzfeldt-Jakob disease (disorder) | Genetic CreutzfeldtJakob disease | JCD - Jakob-Creutzfeldt disease | Jakob-Creutzfeldt disease | Jakob-Creutzfeldt disease (disorder) | Subacute spongiform encephalopathy | Transmissible virus dementia
BMGC_DS01296,BMG_DS001648,Late-Infantile Neuronal Ceroid Lipofuscinosis | Neuronal Ceroid-Lipofuscinoses | late infantile neuronal ceroid lipofuscinosis
BMGC_DS01297,BMG_DS001649,"Dubin-Johnson syndrome | Jaundice, Chronic Idiopathic"
BMGC_DS01298,BMG_DS001650,neonatal jaundice
BMGC_DS01299,BMG_DS001651,"Jaundice, Obstructive | obstructive jaundice"
BMGC_DS01300,BMG_DS001652,Jaw Diseases
BMGC_DS01301,BMG_DS001653,jaw cancer | neoplasm of jaw
BMGC_DS01302,BMG_DS001656,Jejunal Diseases
BMGC_DS01303,BMG_DS001657,jejunal neoplasm
BMGC_DS01304,BMG_DS001658,Jervell and Lange-Nielsen syndrome | Jervell-Lange Nielsen Syndrome | Jervell-Lange Nielsen syndrome
BMGC_DS01305,BMG_DS001659,(Arthritis/arthrosis) or (arthropathy) or (joint disorders) | (Arthritis/arthrosis) or (arthropathy) or (joint disorders) (disorder) | Arthritis/arthrosis | Arthropathy | Arthropathy (disorder) | Arthrosis | Disorder of joint | Joint Diseases | Joint derangement | Joint disease | Joint disorder | Joint disorders | arthropathy
BMGC_DS01306,BMG_DS001661,Juvenile osteochondritis of hip AND/OR pelvis | Juvenile osteochondrosis of hip AND/OR pelvis | Juvenile osteochondrosis of hip AND/OR pelvis (disorder) | Legg-Calve-Perthes disease
BMGC_DS01307,BMG_DS001663,Kartagener Syndrome | Kartagener syndrome
BMGC_DS01308,BMG_DS001664,KSS - Kearns-Sayre syndrome | Kearns-Sayre mitochondrial cytopathy | Kearns-Sayre syndrome | Kearns-Sayre syndrome (disorder) | Mitochondrial ocular myopathy | Oculocraniosomatic syndrome
BMGC_DS01309,BMG_DS001665,keloid
BMGC_DS01310,BMG_DS001666,Keratitis | Keratitis &/or keratoconjunctivitis | Keratitis &/or keratoconjunctivitis (disorder) | Keratitis (disorder) | Keratoconjunctivitis | keratitis
BMGC_DS01311,BMG_DS001667,"Keratitis, Dendritic"
BMGC_DS01312,BMG_DS001668,keratoacanthoma
BMGC_DS01313,BMG_DS001669,Keratitis | Keratitis &/or keratoconjunctivitis | Keratitis &/or keratoconjunctivitis (disorder) | Keratoconjunctivitis | Keratoconjunctivitis (disorder) | Other specified disorders of the cornea | Superficial keratitis with conjunctivitis | keratoconjunctivitis
BMGC_DS01314,BMG_DS001670,Keratoconjunctivitis Sicca | keratoconjunctivitis sicca | xerophthalmia
BMGC_DS01315,BMG_DS001672,"Conjunctivitis, Allergic | Keratoconjunctivitis, Vernal | vernal keratoconjunctivitis"
BMGC_DS01316,BMG_DS001673,(Keratoconus) or (corneal disorders NOS) | (Keratoconus) or (corneal disorders NOS) (disorder) | Cornea conical | Corneal disorder NOS | Corneal disorders NOS | Keratoconus | Keratoconus (disorder) | keratoconus
BMGC_DS01317,BMG_DS001675,acquired hyperkeratosis | acquired keratosis
BMGC_DS01318,BMG_DS001676,"Keratoderma, Palmoplantar, Diffuse | diffuse palmoplantar keratoderma"
BMGC_DS01319,BMG_DS001677,Hyperkeratosis | Keratosis | Keratosis (disorder) | keratosis
BMGC_DS01320,BMG_DS001678,Keratosis | Keratosis Blennorrhagica
BMGC_DS01321,BMG_DS001679,Darier Disease | Darier disease | Keratosis Follicularis | keratosis follicularis
BMGC_DS01322,BMG_DS001680,palmoplantar keratosis
BMGC_DS01323,BMG_DS001681,actinic keratosis
BMGC_DS01324,BMG_DS001682,seborrheic keratosis
BMGC_DS01325,BMG_DS001683,Kernicterus | Kernicterus (& [due to isoimmunisation]) | Kernicterus (& [due to isoimmunisation]) (disorder) | Kernicterus (& [due to isoimmunization]) | Kernicterus (disorder) | Kernicterus (morphologic abnormality) | Kernicterus - due to isoimm. | Kernicterus due to isoimmunisation | Kernicterus due to isoimmunization | Nuclear jaundice | bilirubin encephalopathy | kernicterus
BMGC_DS01326,BMG_DS001685,Kidney Cortex Necrosis | kidney cortex necrosis
BMGC_DS01327,BMG_DS001686,Kidney Diseases | kidney disease | kidney disorder
BMGC_DS01328,BMG_DS001687,"Acute Kidney Injury | Kidney Failure, Acute | acute kidney failure"
BMGC_DS01329,BMG_DS001688,"Kidney Failure, Chronic | chronic kidney disease | chronic renal failure syndrome"
BMGC_DS01330,BMG_DS001689,kidney cancer | kidney neoplasm
BMGC_DS01331,BMG_DS001690,Kidney Papillary Necrosis | kidney papillary necrosis
BMGC_DS01332,BMG_DS001691,"Acute Kidney Tubular Necrosis | Kidney Tubular Necrosis, Acute | acute kidney tubular necrosis"
BMGC_DS01333,BMG_DS001692,Cystic kidney | cystic kidney disease
BMGC_DS01334,BMG_DS001693,Polycystic Kidney Diseases | autosomal dominant polycystic kidney disease | polycystic kidney disease
BMGC_DS01335,BMG_DS001694,"Medullary cystic disease of the kidney | Medullary cystic disease of the kidney (disorder) | Medullary cystic disease, adult type | Medullary sponge kidney | Medullary sponge kidney (disorder) | Medullary: [cystic disease, adult type] or [sponge kidney] | Medullary: [cystic disease, adult type] or [sponge kidney] (disorder) | medullary sponge kidney"
BMGC_DS01336,BMG_DS001695,Kienbock Disease | Kienbock disease | Osteonecrosis
BMGC_DS01337,BMG_DS001696,Menkes Kinky Hair Syndrome | Menkes disease
BMGC_DS01338,BMG_DS001697,Klebsiella Infections | Klebsiella infectious disease | Klebsiella pneumonia
BMGC_DS01339,BMG_DS001698,kleptomania
BMGC_DS01340,BMG_DS001699,Klinefelter Syndrome | Klinefelter syndrome
BMGC_DS01341,BMG_DS001700,Klippel-Feil Syndrome | Klippel-Feil syndrome
BMGC_DS01342,BMG_DS001701,Klippel-Trenaunay syndrome | Klippel-Trenaunay-Weber Syndrome | angioosteohypertrophic syndrome
BMGC_DS01343,BMG_DS001702,leukoplakia of penis
BMGC_DS01344,BMG_DS001703,Vulvar Lichen Sclerosus | vulvar lichen sclerosus
BMGC_DS01345,BMG_DS001704,Krukenberg carcinoma
BMGC_DS01346,BMG_DS001705,Adult Neuronal Ceroid Lipofuscinosis | Neuronal Ceroid-Lipofuscinoses | adult neuronal ceroid lipofuscinosis
BMGC_DS01347,BMG_DS001706,Kuru | Kuru (disorder) | Kuru encephalitis | kuru
BMGC_DS01348,BMG_DS001707,Deficiency -nutritional | Deposed child syndrome | Dietary deficiency | Fatty liver of Brahmin children | Insufficiency - dietary | Kwashiokor | Kwashiorkor | Kwashiorkor (disorder) | Malignant malnutrition | Marasmus | Nutritional deficiencies | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) (disorder) | Nutritional edema with dyspigmentation of skin AND/OR hair | Nutritional oedema with dyspigmentation of skin AND/OR hair | Protein malnutrition | kwashiorkor
BMGC_DS01349,BMG_DS001708,Kyasanur Forest Disease | Kyasanur forest disease
BMGC_DS01350,BMG_DS001710,Central vestibular vertigo | Labyrinthine disorder | Labyrinthine disorder (disorder) | Labyrinthine vertigo | Vestibular disorder | inner ear disease
BMGC_DS01351,BMG_DS001711,Labyrinthitis | Labyrinthitis (disorder) | labyrinthitis
BMGC_DS01352,BMG_DS001712,Lacrimal Apparatus Diseases | lacrimal apparatus disease | lacrimal apparatus disorder
BMGC_DS01353,BMG_DS001713,lacrimal duct obstruction
BMGC_DS01354,BMG_DS001714,Lactation Disorder | Lactation Disorders | lactation disease
BMGC_DS01355,BMG_DS001715,Lactose Intolerance | lactose intolerance
BMGC_DS01356,BMG_DS001717,Lambert-Eaton Myasthenic Syndrome | Lambert-Eaton myasthenic syndrome
BMGC_DS01357,BMG_DS001719,Langer-Giedion Syndrome | trichorhinophalangeal syndrome type II
BMGC_DS01358,BMG_DS001721,language disorder
BMGC_DS01359,BMG_DS001723,"Larva Migrans, Visceral | larva migrans, visceral | toxocariasis"
BMGC_DS01360,BMG_DS001724,Laryngeal Diseases | laryngeal disease | laryngeal disorder
BMGC_DS01361,BMG_DS001725,laryngeal benign neoplasm | laryngeal neoplasm
BMGC_DS01362,BMG_DS001726,Laryngeal Diseases | Laryngeal Perichondritis
BMGC_DS01363,BMG_DS001727,Laryngeal spasm | Laryngeal spasm (disorder) | Laryngismus | Laryngismus stridulus | Laryngospasm | Laryngospasm (disorder) | Laryngospasm (finding)
BMGC_DS01364,BMG_DS001728,Laryngitis | Laryngitis (disorder) | laryngitis
BMGC_DS01365,BMG_DS001730,laryngostenosis
BMGC_DS01366,BMG_DS001733,Lassa Fever | Lassa fever
BMGC_DS01367,BMG_DS001734,Laurence-Moon Syndrome | Laurence-Moon syndrome
BMGC_DS01368,BMG_DS001736,learning disability
BMGC_DS01369,BMG_DS001737,Complete LCAT (lecithin-cholesterol acyltransferase) deficiency | Complete LCAT deficiency | Familial lecithin cholesterol acyltransferase deficiency | Familial lecithin cholesterol acyltransferase deficiency (disorder) | Norum disease
BMGC_DS01370,BMG_DS001738,Bundle-Branch Block | Left Bundle-Branch Block
BMGC_DS01371,BMG_DS001739,Heart Failure | Left-Sided Heart Failure
BMGC_DS01372,BMG_DS001741,Leg Dermatoses | leg dermatosis
BMGC_DS01373,BMG_DS001742,Leg Ulcer | ulcer of lower limbs
BMGC_DS01374,BMG_DS001743,Coxa plana | Coxa plana (disorder) | Legg-Calve-Perthes disease
BMGC_DS01375,BMG_DS001744,Legionella infection | Legionella infection (disorder) | Legionellosis | legionellosis
BMGC_DS01376,BMG_DS001745,Legionnaires' Disease | Legionnaires' disease
BMGC_DS01377,BMG_DS001746,Leigh Disease | Leigh disease
BMGC_DS01378,BMG_DS001747,leiomyoma
BMGC_DS01379,BMG_DS001748,leiomyosarcoma
BMGC_DS01380,BMG_DS001749,(Rickettsioses/arthropod NOS) or (leishmaniasis) | (Rickettsioses/arthropod NOS) or (leishmaniasis) (disorder) | Leishmaniasis | Leishmaniasis (disorder) | Leishmaniosis | Rickettsioses/arthropod NOS | leishmaniasis
BMGC_DS01381,BMG_DS001750,"Leishmaniasis, Cutaneous | cutaneous leishmaniasis"
BMGC_DS01382,BMG_DS001755,"Leishmaniasis, Visceral | visceral leishmaniasis"
BMGC_DS01383,BMG_DS001756,Lens Diseases | lens disease
BMGC_DS01384,BMG_DS001757,Lens Dislocation and Subluxation | Lens Subluxation
BMGC_DS01385,BMG_DS001758,Lens Subluxation | lens subluxation
BMGC_DS01386,BMG_DS001759,(Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) (disorder) | Dyschromia NOS | Freckles | Hypermelanosis of unspecified aetiology | Lentigo | Lentigo (disorder) | Lentigo (morphologic abnormality) | Lentigo simplex | Melanosis | Naevus spilus | Nevus spilus | Speckled lentiginous naevus | Speckled lentiginous nevus | lentigo
BMGC_DS01387,BMG_DS001760,(Leprosy + other mycobact dis) or (mycobacterial disease) | (Leprosy + other mycobact dis) or (mycobacterial disease) (disorder) | Hansen's disease | Infection due to Mycobacterium leprae | Leprosy | Leprosy (disorder) | Leprosy + other mycobact. dis. | Leprosy and other mycobacterial disorders | Mycobacterial disease | Mycobacterium leprae infection | leprosy
BMGC_DS01388,BMG_DS001761,BB - Borderline leprosy | Borderline leprosy | Borderline leprosy (disorder) | Dimorphic leprosy | Group B leprosy | Midborderline leprosy | Multibacillary leprosy | Type BB leprosy | borderline leprosy
BMGC_DS01389,BMG_DS001762,"Leprosy, Lepromatous | lepromatous leprosy"
BMGC_DS01390,BMG_DS001763,Full tuberculoid leprosy | Nodular leprosy | Paucibacillary leprosy | Smooth leprosy | TT - Full tuberculoid leprosy | Tuberculoid Hansen's disease (leprosy) | Tuberculoid leprosy | Tuberculoid leprosy (disorder) | Type T leprosy | Type TT leprosy | tuberculoid leprosy
BMGC_DS01391,BMG_DS001765,Angina - Vincents | Cane cutter's fever | Chancroid | Fort Bragg fever | Harvest fever | Infection due to Leptospira | Japanese autumnal fever | Leptospirosis | Leptospirosis (disorder) | Lymphogranuloma venereum | Mud fever | Other venereal/spirochaete dis | Other venereal/spirochaete disease | Pretibial fever | Queensland fever | Red water fever | Rice-field worker's disease | Seven day fever | Spirochaetal jaundice | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] (disorder) | Spirochetal jaundice | Swamp fever | Trench mouth | Vincent's angina | Weil's disease | Yaws | leptospirosis
BMGC_DS01392,BMG_DS001768,Lesch-Nyhan Syndrome | Lesch-Nyhan syndrome
BMGC_DS01393,BMG_DS001769,"Histiocytosis, Langerhans-Cell | Langerhans-cell histiocytosis | Letterer-Siwe Disease | letterer-Siwe disease"
BMGC_DS01394,BMG_DS001770,leukemia
BMGC_DS01395,BMG_DS001771,B-cell chronic lymphocytic leukemia | chronic lymphocytic leukemia
BMGC_DS01396,BMG_DS001772,acute basophilic leukemia
BMGC_DS01397,BMG_DS001773,acute erythroid leukemia
BMGC_DS01398,BMG_DS001774,hairy cell leukemia
BMGC_DS01399,BMG_DS001775,lymphoid leukemia
BMGC_DS01400,BMG_DS001776,acute lymphoblastic leukemia
BMGC_DS01401,BMG_DS001777,childhood acute lymphoblastic leukemia
BMGC_DS01402,BMG_DS001778,mast cell leukemia | mast-cell leukemia
BMGC_DS01403,BMG_DS001779,acute megakaryoblastic leukemia | acute megakaryocytic leukemia
BMGC_DS01404,BMG_DS001780,acute biphenotypic leukemia
BMGC_DS01405,BMG_DS001781,acute monocytic leukemia
BMGC_DS01406,BMG_DS001782,chronic monocytic leukemia
BMGC_DS01407,BMG_DS001783,acute myeloid leukemia
BMGC_DS01408,BMG_DS001784,myeloid leukemia
BMGC_DS01409,BMG_DS001786,"chronic myelogenous leukemia, BCR-ABL1 positive | chronic myeloid leukemia"
BMGC_DS01410,BMG_DS001788,acute myelomonocytic leukemia | acute myelomonocytic leukemia M4
BMGC_DS01411,BMG_DS001789,chronic myelomonocytic leukemia
BMGC_DS01412,BMG_DS001790,chronic neutrophilic leukemia
BMGC_DS01413,BMG_DS001791,null-cell leukemia
BMGC_DS01414,BMG_DS001792,plasma cell leukemia
BMGC_DS01415,BMG_DS001793,prolymphocytic leukemia
BMGC_DS01416,BMG_DS001794,acute promyelocytic leukemia
BMGC_DS01417,BMG_DS001795,T-cell acute lymphoblastic leukemia | T-cell leukemia
BMGC_DS01418,BMG_DS001796,adult T-cell leukemia/lymphoma
BMGC_DS01419,BMG_DS001797,Leukemoid Reaction | leukemoid reaction
BMGC_DS01420,BMG_DS001798,Leukocyte Disorders | leukocyte disease | leukocyte disorder
BMGC_DS01421,BMG_DS001799,(Other white blood cell disease NOS) or (leucocytosis) | (Other white blood cell disease NOS) or (leucocytosis) (disorder) | (Other white blood cell disease NOS) or (leukocytosis) | (Other white blood cell disease) or (leucocytosis) | (Other white blood cell disease) or (leucocytosis) (disorder) | (Other white blood cell disease) or (leukocytosis) | Leucocytosis | Leucocytosis (finding) | Leukocytosis | Leukocytosis (disorder) | Lymphocytosis | Other WBC diseases | Other white blood cell disease | Other white blood cell disease NOS | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] (disorder) | WBC: [other diseases] or [lymphocytosis] or [leukocytosis]
BMGC_DS01422,BMG_DS001800,Leucodystrophy | Leukodystrophy | Leukodystrophy (disorder) | leukodystrophy
BMGC_DS01423,BMG_DS001801,Krabbe disease
BMGC_DS01424,BMG_DS001802,"Leukodystrophy, Metachromatic | metachromatic leukodystrophy"
BMGC_DS01425,BMG_DS001803,Leukedema of mouth | Leukedema of mouth (disorder) | Leukoedema of mouth | Oral leukoedema | oral leukoedema
BMGC_DS01426,BMG_DS001804,"Leukoencephalopathy, Progressive Multifocal | progressive multifocal leukoencephalopathy"
BMGC_DS01427,BMG_DS001806,"Leukomalacia, Periventricular | periventricular leukomalacia"
BMGC_DS01428,BMG_DS001807,Leucocytopenia | Leucopenia | Leucopenia (disorder) | Leucopenia (finding) | Leukocytopenia | Leukopenia | Leukopenia (disorder) | leukopenia
BMGC_DS01429,BMG_DS001808,leukoplakia
BMGC_DS01430,BMG_DS001809,oral mucosa leukoplakia
BMGC_DS01431,BMG_DS001810,leukorrhea
BMGC_DS01432,BMG_DS001813,Leydig cell tumor
BMGC_DS01433,BMG_DS001814,lichen disease
BMGC_DS01434,BMG_DS001815,Lichen planopilaris | Lichen planopilaris (disorder) | Lichen planus follicularis | lichen planopilaris
BMGC_DS01435,BMG_DS001816,Lichen Planus | lichen planus
BMGC_DS01436,BMG_DS001824,linitis plastica
BMGC_DS01437,BMG_DS001825,Lip Diseases | lip disease | lip disorder
BMGC_DS01438,BMG_DS001827,"Lipid Metabolism, Inborn Errors | lipid metabolism disorder"
BMGC_DS01439,BMG_DS001828,Mucopolysaccharidosis I | mucopolysaccharidosis I | mucopolysaccharidosis type 1
BMGC_DS01440,BMG_DS001829,(Lipodystrophy) or (Barraquer - Simons disease) | (Lipodystrophy) or (Barraquer - Simons disease) (disorder) | Barraquer - Simons disease | Barraquer-Simons disease | Dystrophy of fatty tissue | Lipodystrophy | Lipodystrophy (disorder) | lipodystrophy
BMGC_DS01441,BMG_DS001830,Whipple Disease | Whipple disease
BMGC_DS01442,BMG_DS001831,Lipidoses | Lipoidosis | Lipoidosis (disorder) | lipid storage disease | lysosomal lipid storage disorder
BMGC_DS01443,BMG_DS001832,Lipoid Proteinosis of Urbach and Wiethe | lipoid proteinosis
BMGC_DS01444,BMG_DS001833,lipoma
BMGC_DS01445,BMG_DS001834,Lipomatosis | Lipomatosis (disorder) | Lipomatosis (morphologic abnormality) | lipomatosis
BMGC_DS01446,BMG_DS001836,"Lipomatosis, Multiple Symmetrical | multiple symmetric lipomatosis"
BMGC_DS01447,BMG_DS001837,Cherry red spot myoclonus syndrome | Lipomucopolysaccharidosis | Mucolipidoses | Normomorphic sialidosis | Sialidosis type 1 | Sialidosis type 1 (disorder) | sialidosis type 1
BMGC_DS01448,BMG_DS001838,Hyperlipoproteinemia Type I | familial lipoprotein lipase deficiency
BMGC_DS01449,BMG_DS001839,liposarcoma
BMGC_DS01450,BMG_DS001840,Circling disease | Infection due to Listeria monocytogenes | Listerellosis | Listeria monocytogenes infection | Listeriosis | Listeriosis (disorder) | listeriosis
BMGC_DS01451,BMG_DS001841,Cerebral Palsy | Little's Disease | spastic diplegia
BMGC_DS01452,BMG_DS001842,Liver Abscess
BMGC_DS01453,BMG_DS001843,"Liver Abscess, Amebic"
BMGC_DS01454,BMG_DS001844,Liver Cirrhosis | cirrhosis of liver | liver cirrhosis
BMGC_DS01455,BMG_DS001845,"Liver Cirrhosis, Alcoholic | alcoholic liver cirrhosis"
BMGC_DS01456,BMG_DS001846,Biliary cirrhosis | Biliary cirrhosis (disorder) | Cholangitic cirrhosis | Cholestatic cirrhosis | Chronic nonsuppurative destructive cholangitis | primary biliary cholangitis
BMGC_DS01457,BMG_DS001847,liver disease
BMGC_DS01458,BMG_DS001848,"Alcoholic Liver Diseases | Liver Diseases, Alcoholic | alcoholic liver diseases"
BMGC_DS01459,BMG_DS001849,"Liver Diseases, Parasitic"
BMGC_DS01460,BMG_DS001850,liver cancer
BMGC_DS01461,BMG_DS001851,Lobstein Disease | Osteogenesis Imperfecta | osteogenesis imperfecta type 1
BMGC_DS01462,BMG_DS001853,Locked-In Syndrome | locked-in syndrome
BMGC_DS01463,BMG_DS001854,loiasis
BMGC_DS01464,BMG_DS001855,long QT syndrome
BMGC_DS01465,BMG_DS001856,louping ill
BMGC_DS01466,BMG_DS001857,Lown-Ganong-Levine syndrome
BMGC_DS01467,BMG_DS001858,Ludwig's angina
BMGC_DS01468,BMG_DS001860,lung abscess
BMGC_DS01469,BMG_DS001861,Lung diseases | Respiratory diseases | Respiratory system diseases | Respiratory system diseases (& lung diseases) | Respiratory system diseases (& lung diseases) (disorder) | lung disease | lung disorder
BMGC_DS01470,BMG_DS001862,"Lung Diseases, Fungal | fungal lung infectious disease"
BMGC_DS01471,BMG_DS001863,"Chronic Obstructive Airway Disease | Pulmonary Disease, Chronic Obstructive | chronic obstructive pulmonary disease"
BMGC_DS01472,BMG_DS001864,"Lung Diseases, Parasitic"
BMGC_DS01473,BMG_DS001865,lung benign neoplasm | lung neoplasm
BMGC_DS01474,BMG_DS001867,"Lupus Erythematosus, Cutaneous | cutaneous lupus erythematosus | obsolete rare cutaneous lupus erythematosus"
BMGC_DS01475,BMG_DS001868,CDLE - Chronic discoid lupus erythematosus | Chronic discoid lupus erythematosus | Chronic discoid lupus erythematosus (disorder) | Discoid lupus erythematosus | Discoid lupus erythematosus (disorder)
BMGC_DS01476,BMG_DS001869,"Lupus Erythematosus, Cutaneous | Lupus Erythematosus, Subacute Cutaneous | obsolete rare cutaneous lupus erythematosus | subacute cutaneous lupus erythematosus"
BMGC_DS01477,BMG_DS001870,"Lupus Erythematosus, Systemic | systemic lupus erythematosus"
BMGC_DS01478,BMG_DS001871,Lupus Nephritis | lupus nephritis
BMGC_DS01479,BMG_DS001872,Chilblain lupus | Chilblain lupus 1 | chilblain lupus 1
BMGC_DS01480,BMG_DS001873,Lutembacher Syndrome | Lutembacher syndrome | Lutembacher's syndrome
BMGC_DS01481,BMG_DS001874,Lyme Disease | Lyme disease
BMGC_DS01482,BMG_DS001875,"Adenitis | Chronic lymphadenitis, unspecified | Inflammation of lymph node | Lymphadenitis | Lymphadenitis (disorder) | lymphadenitis"
BMGC_DS01483,BMG_DS001876,"Lymphangiectasia | Lymphangiectasis | Lymphangiectasis (morphologic abnormality) | Lymphoedema, unspecified | lymphangiectasis"
BMGC_DS01484,BMG_DS001879,lymphangioma
BMGC_DS01485,BMG_DS001882,Inflammation of lymphatics | Lymphangitis | Lymphangitis (disorder) | lymphangitis
BMGC_DS01486,BMG_DS001883,Lymphatic Diseases | lymphatic system disease | lymphoid system disorder
BMGC_DS01487,BMG_DS001884,(Elephantiasis) or (lymphedema [& NOS]) | (Elephantiasis) or (lymphoedema [& NOS]) | (Elephantiasis) or (lymphoedema [& NOS]) (disorder) | (Noninfective lymphatic disorders) or (lymphedema) | (Noninfective lymphatic disorders) or (lymphoedema) | (Noninfective lymphatic disorders) or (lymphoedema) (disorder) | Acquired lymphedema | Acquired lymphoedema | Elephantiasis | Lymphatic edema | Lymphatic edema (morphologic abnormality) | Lymphatic oedema | Lymphedema | Lymphedema (disorder) | Lymphedema NOS | Lymphoedema | Lymphoedema NOS | Noninfective lymphatic disorders | lymphedema
BMGC_DS01488,BMG_DS001885,Lymphocele | Lymphocele (disorder) | lymphocele
BMGC_DS01489,BMG_DS001886,Lymphocytic Choriomeningitis | lymphocytic choriomeningitis
BMGC_DS01490,BMG_DS001887,Leucocytosis | Leukocytosis | Lymphocytosis | Lymphocytosis (disorder) | Other WBC diseases | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] (disorder) | WBC: [other diseases] or [lymphocytosis] or [leukocytosis]
BMGC_DS01491,BMG_DS001888,Lymphogranuloma Venereum | lymphogranuloma venereum
BMGC_DS01492,BMG_DS001889,"Lymphohistiocytosis, Hemophagocytic | hemophagocytic lymphohistiocytosis"
BMGC_DS01493,BMG_DS001890,lymphoma
BMGC_DS01494,BMG_DS001891,follicular lymphoma
BMGC_DS01495,BMG_DS001892,reticulosarcoma | reticulum cell sarcoma
BMGC_DS01496,BMG_DS001893,non-Hodgkin lymphoma
BMGC_DS01497,BMG_DS001894,lymphomatoid granulomatosis
BMGC_DS01498,BMG_DS001895,Alymphocytosis | Lymphocytopenia | Lymphocytopenia (disorder) | Lymphopenia | lymphopenia
BMGC_DS01499,BMG_DS001896,lymphoproliferative syndrome
BMGC_DS01500,BMG_DS001897,Machado-Joseph Disease | Machado-Joseph disease
BMGC_DS01501,BMG_DS001898,Waldenstrom macroglobulinemia | lymphoplasmacytic lymphoma
BMGC_DS01502,BMG_DS001899,(Congenital): [macroglossia (& acquired)] or [tongue hypertrophy] | (Congenital): [macroglossia (& acquired)] or [tongue hypertrophy] (disorder) | Acquired hypertrophy of tongue | Acquired macroglossia | Congenital hypertrophy of tongue | Congenital macroglossia | Congenital tongue hypertrophy | Enlarged tongue | Enlarged tongue (disorder) | Enlargement of tongue | Enlargement of tongue (disorder) | Hypertrophy of tongue | Large tongue | Macroglossia | macroglossia
BMGC_DS01503,BMG_DS001900,Macular degeneration | Macular degeneration (disorder) | Senile macular retinal degeneration | macular degeneration
BMGC_DS01504,BMG_DS001901,Macular corneal dystrophy | Macular corneal dystrophy (disorder) | macular corneal dystrophy
BMGC_DS01505,BMG_DS001902,"Macular Edema | Macular Edema, Cystoid | cystoid macular edema"
BMGC_DS01506,BMG_DS001903,Macular Holes | Retinal Perforations | macular holes
BMGC_DS01507,BMG_DS001904,Mycetoma | Mycetoma (disorder) | Mycetomata | eumycotic mycetoma | mycetoma
BMGC_DS01508,BMG_DS001905,Enchondromatosis | Maffucci Syndrome | Maffucci syndrome | Ollier disease
BMGC_DS01509,BMG_DS001906,Magnesium Deficiency | magnesium deficiency
BMGC_DS01510,BMG_DS001907,Majewski Syndrome | Short Rib-Polydactyly Syndrome | short-rib thoracic dysplasia 6 with or without polydactyly
BMGC_DS01511,BMG_DS001908,major depressive disorder
BMGC_DS01512,BMG_DS001909,Malabsorption Syndrome | Malabsorption Syndromes | malabsorption syndrome
BMGC_DS01513,BMG_DS001911,Malaria | Malaria (disorder) | Paludism | Plasmodiosis | malaria
BMGC_DS01514,BMG_DS001913,"Malaria, Cerebral | cerebral malaria"
BMGC_DS01515,BMG_DS001914,"Malaria, Falciparum | Plasmodium falciparum malaria"
BMGC_DS01516,BMG_DS001915,Malaria by Plasmodium malariae | Malariae malaria | Plasmodium malariae malaria | Quartan malaria | Quartan malaria (disorder)
BMGC_DS01517,BMG_DS001916,"Malaria, Vivax | Plasmodium vivax malaria"
BMGC_DS01518,BMG_DS001917,Malignant Carcinoid Syndrome | carcinoid syndrome
BMGC_DS01519,BMG_DS001918,Accelerated essential hypertension | Malignant essential hypertension | Malignant essential hypertension (disorder) | malignant essential hypertension
BMGC_DS01520,BMG_DS001919,malignant hyperthermia | malignant hyperthermia of anesthesia
BMGC_DS01521,BMG_DS001920,liver cancer
BMGC_DS01522,BMG_DS001922,retinal cancer
BMGC_DS01523,BMG_DS001923,gastric cancer | stomach cancer
BMGC_DS01524,BMG_DS001924,lung cancer
BMGC_DS01525,BMG_DS001926,Mandibular Diseases
BMGC_DS01526,BMG_DS001927,mandibular cancer
BMGC_DS01527,BMG_DS001928,Animal scabies | Infestation by Sarcoptes scabiei | Infestation by Sarcoptes scabiei (disorder) | Mange | Mange (disorder) | Mite Infestations | Sarcoptic mange
BMGC_DS01528,BMG_DS001929,"Mange, Sarcoptic | Scabies"
BMGC_DS01529,BMG_DS001930,bipolar disorder | manic bipolar affective disorder
BMGC_DS01530,BMG_DS001931,alpha-Mannosidosis | alpha-mannosidosis
BMGC_DS01531,BMG_DS001932,Mansonelliasis | Mansonelliasis (disorder) | mansonelliasis
BMGC_DS01532,BMG_DS001933,Maple Syrup Urine Disease | maple syrup urine disease
BMGC_DS01533,BMG_DS001934,Marburg Virus Disease | Marburg hemorrhagic fever
BMGC_DS01534,BMG_DS001935,Haemoglobinuria - external causation | Haemoglobinuria-external cause | Haemoglobinuria-haemol. | Haemoglobinuria: [external cause] or [haemolytic] or [paroxysmal nocturnal] | Haemoglobinuria: [external cause] or [haemolytic] or [paroxysmal nocturnal] (disorder) | Hemoglobinuria - external causation | Hemoglobinuria-external cause | Hemoglobinuria-hemol. | Hemoglobinuria: [external cause] or [hemolytic] or [paroxysmal nocturnal] | Marchiafava-Micheli syndrome | PNH - paroxysmal nocturnal haemoglobinuria | PNH - paroxysmal nocturnal hemoglobinuria | Parox. noct. haemoglobinuria | Parox. noct. hemoglobinuria | Paroxysmal nocturnal haemoglobinuria | Paroxysmal nocturnal hemoglobinuria | Paroxysmal nocturnal hemoglobinuria (disorder) | paroxysmal nocturnal hemoglobinuria
BMGC_DS01535,BMG_DS001936,Marfan Syndrome | Marfan syndrome
BMGC_DS01536,BMG_DS001938,cannabis abuse
BMGC_DS01537,BMG_DS001939,(Marinesco-Sjogren syndrome) or (disorder of metabolism NOS) | (Marinesco-Sjogren syndrome) or (disorder of metabolism NOS) (disorder) | Disorder of metabolism NOS | Marinesco Sjogren syndrome | Marinesco-Sjogren syndrome | Marinesco-Sjögren syndrome | Marinesco-Sjögren syndrome (disorder) | Oligophrenic cerebellolenticular degeneration
BMGC_DS01538,BMG_DS001940,"Abscess, breast, non puerperal | Breast abscess - non puerperal | Inflammatory breast disease | Inflammatory breast disease (& [abscess, non puerperal] or [mastitis (& non puerperal)]) | Inflammatory breast disease (& [abscess, non puerperal] or [mastitis (& non puerperal)]) (disorder) | Inflammatory disease of breast | Inflammatory disease of breast (& [mastitis]) | Inflammatory disease of breast (& [mastitis]) (disorder) | Inflammatory disorder of breast | Mastitis | Mastitis (disorder) | Mastitis - non puerperal | Non-puerperal mastitis | mastitis"
BMGC_DS01539,BMG_DS001943,mastocytosis
BMGC_DS01540,BMG_DS001944,"Mastocytosis, Bullous | Mastocytosis, Cutaneous"
BMGC_DS01541,BMG_DS001945,diffuse cutaneous mastocytosis
BMGC_DS01542,BMG_DS001946,Mastoiditis | Mastoiditis (disorder) | mastoiditis
BMGC_DS01543,BMG_DS001947,Maxillary Diseases
BMGC_DS01544,BMG_DS001948,maxillary cancer | maxillary neoplasm
BMGC_DS01545,BMG_DS001949,maxillary sinus benign neoplasm | maxillary sinus neoplasm
BMGC_DS01546,BMG_DS001950,Maxillary Sinusitis | maxillary sinusitis
BMGC_DS01547,BMG_DS001951,Measles | Measles (disorder) | Morbilli | Rubeola | measles
BMGC_DS01548,BMG_DS001952,Meckel diverticulum | Meckel's diverticulum
BMGC_DS01549,BMG_DS001953,Meconium Aspiration Syndrome | meconium aspiration syndrome
BMGC_DS01550,BMG_DS001956,Mediastinal Emphysema
BMGC_DS01551,BMG_DS001957,mediastinal cancer | neoplasm of mediastinum
BMGC_DS01552,BMG_DS001958,Inflammatory disorder of mediastinum | Inflammatory disorder of mediastinum (disorder) | Mediastinitis | Mediastinitis (disorder) | mediastinitis
BMGC_DS01553,BMG_DS001959,medulloblastoma
BMGC_DS01554,BMG_DS001960,megacolon
BMGC_DS01555,BMG_DS001961,"Megacolon, Toxic | toxic megacolon"
BMGC_DS01556,BMG_DS001962,Esophageal Achalasia | Megaesophagus | Megaesophagus (disorder) | Megaoesophagus | megaesophagus
BMGC_DS01557,BMG_DS001963,Meige Syndrome | Meige syndrome | blepharospasm-oromandibular dystonia syndrome
BMGC_DS01558,BMG_DS001965,melancholia
BMGC_DS01559,BMG_DS001966,melanoma
BMGC_DS01560,BMG_DS001967,(Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) (disorder) | Dyschromia NOS | Freckles | Lentigo | Melanosis | Melanosis (disorder) | Melanosis (morphologic abnormality)
BMGC_DS01561,BMG_DS001969,Chloasma | Chloasma (disorder) | Melanosis | Melasma
BMGC_DS01562,BMG_DS001970,"Keratoderma, Palmoplantar | Meleda Disease | mal de Meleda"
BMGC_DS01563,BMG_DS001971,Infection due to Burkholderia pseudomallei | Infection due to Malleomyces pseudomallei | Infection due to Pseudomonas pseudomallei | Infection due to Whitmore's bacillus | Melioidosis | Melioidosis (disorder) | Pseudoglanders | Pseudoglanders (disorder) | Whitmore's disease | melioidosis
BMGC_DS01564,BMG_DS001972,Melkersson-Rosenthal Syndrome | Melkersson-Rosenthal syndrome
BMGC_DS01565,BMG_DS001973,Melnick-Needles Syndrome | Melnick-Needles syndrome | Osteochondrodysplasias
BMGC_DS01566,BMG_DS001974,Candle wax disease | Flowing hyperostosis | Leri's disease | Melorheostosis | Melorheostosis (disorder) | Osteopathia hyperostotica congenita | Rheostosis | melorheostosis
BMGC_DS01567,BMG_DS001975,multiple endocrine neoplasia type 1
BMGC_DS01568,BMG_DS001976,multiple endocrine neoplasia type 2A
BMGC_DS01569,BMG_DS001977,multiple endocrine neoplasia type 2B
BMGC_DS01570,BMG_DS001978,Meniere Disease | Meniere disease | Meniere's disease
BMGC_DS01571,BMG_DS001979,tumor of meninges
BMGC_DS01572,BMG_DS001980,meningioma
BMGC_DS01573,BMG_DS001981,Meningitis | Meningitis (disorder) | meningitis
BMGC_DS01574,BMG_DS001982,"Aseptic Meningitis | Meningitis, Aseptic | aseptic meningitis"
BMGC_DS01575,BMG_DS001983,"Meningitis, Haemophilus | haemophilus meningitis"
BMGC_DS01576,BMG_DS001984,"Listeria meningitis | Meningitis, Listeria"
BMGC_DS01577,BMG_DS001985,Cerebrospinal meningitis | Epidemic meningitis | Meningococcal cerebrospinal fever | Meningococcal meningitis | Meningococcal meningitis (disorder) | meningococcal meningitis
BMGC_DS01578,BMG_DS001986,"Meningitis, Pneumococcal | pneumococcal meningitis"
BMGC_DS01579,BMG_DS001987,"Abacterial meningitis | Aseptic meningitis, viral | Bacterial meningitis | Encephalitis - viral | Meningitis - viral NOS | Meningitis, viral | Meningitis: [bacterial] or [viral] | Meningitis: [bacterial] or [viral] (disorder) | Other CNS viral disease | Other central nervous system viral disease | Viral encephalitis | Viral meningitis | Viral meningitis (disorder) | Viral: [other CNS disease] or [encephalitis] or [meningitis (& [NOS])] | Viral: [other CNS disease] or [encephalitis] or [meningitis (& [NOS])] (disorder) | viral meningitis"
BMGC_DS01580,BMG_DS001988,(Spina bifida - no hydrocephalus) or (meningocele) or (myelocele) | (Spina bifida - no hydrocephalus) or (meningocele) or (myelocele) (disorder) | Congenital meningocele | Congenital meningocele (disorder) | Meningocele | Meningocele (disorder) | Myelocele | Spina bifida -no hydrocephalus | meningocele
BMGC_DS01581,BMG_DS001989,Meningococcal Infections | meningococcal infection
BMGC_DS01582,BMG_DS001990,Meningococcal Infections | Meningococcal Septicemia | meningococcemia
BMGC_DS01583,BMG_DS001991,Meningoencephalitis | Meningoencephalitis (disorder) | meningoencephalitis
BMGC_DS01584,BMG_DS001994,myelomeningocele
BMGC_DS01585,BMG_DS001995,Menopausal syndrome | Menopausal syndrome (disorder)
BMGC_DS01586,BMG_DS001996,"Menopause, Premature | Premature Menopause | premature menopause"
BMGC_DS01587,BMG_DS001997,"Menstruation Disturbances | Menstruation, Retrograde"
BMGC_DS01588,BMG_DS001998,intellectual disability
BMGC_DS01589,BMG_DS001999,mesenchymoma
BMGC_DS01590,BMG_DS002000,Mesenteric Lymphadenitis | mesenteric lymphadenitis
BMGC_DS01591,BMG_DS002002,Mesenteric Vascular Occlusion | mesenteric vascular occlusion
BMGC_DS01592,BMG_DS002003,clear cell adenocarcinoma | mesonephric adenocarcinoma
BMGC_DS01593,BMG_DS002004,benign mesothelioma | mesothelioma
BMGC_DS01594,BMG_DS002005,Metabolic Diseases | disease of metabolism | metabolic disease
BMGC_DS01595,BMG_DS002006,"Inborn Errors of Metabolism | Metabolism, Inborn Errors | inborn errors of metabolism | inherited metabolic disorder"
BMGC_DS01596,BMG_DS002007,"Diseases due to trematodes, unspecified | Infection by Metagonimus yokogawai | Infection caused by Metagonimus yokogawai | Infection caused by Metagonimus yokogawai (disorder) | Metagonimiasis | Metagonimosis | Trematode Infections | metagonimiasis"
BMGC_DS01597,BMG_DS002008,"Metal Metabolism, Inborn Errors | inborn metal metabolism disorder | metal metabolism disorder"
BMGC_DS01598,BMG_DS002009,(Methaemoglobinaemia) or (Stokvis' disease) or (sulphaemoglobinaemia) | (Methaemoglobinaemia) or (Stokvis' disease) or (sulphaemoglobinaemia) (disorder) | (Methemoglobinemia) or (Stokvis' disease) or (sulfemoglobinemia) | Methaemoglobinaemia | Methaemoglobinaemia (disorder) | Methemoglobinemia | Methemoglobinemia (disorder) | Stokvis' disease | Sulfemoglobinemia | Sulphaemoglobinaemia | methemoglobinemia
BMGC_DS01599,BMG_DS002010,"Diabetic Angiopathies | Microangiopathy, Diabetic"
BMGC_DS01600,BMG_DS002011,isolated congenital microcephaly | microcephaly
BMGC_DS01601,BMG_DS002012,microphthalmia
BMGC_DS01602,BMG_DS002013,Middle Lobe Syndrome | middle lobe syndrome
BMGC_DS01603,BMG_DS002014,IgG4-related dacryoadenitis and sialadenitis | Mikulicz Disease | Mikulicz disease | Mikulicz' Disease
BMGC_DS01604,BMG_DS002015,Miliaria | Miliaria (disorder) | miliaria
BMGC_DS01605,BMG_DS002017,Hypercalcemia | Milk-Alkali Syndrome | calcium-alkali syndrome
BMGC_DS01606,BMG_DS002018,Milker's Nodes | Poxviridae Infections | milker's nodule
BMGC_DS01607,BMG_DS002019,Mite Infestations | mite infestation
BMGC_DS01608,BMG_DS002020,mitral valve disease | mitral valve disorder
BMGC_DS01609,BMG_DS002021,Mitral Valve Insufficiency | mitral valve insufficiency
BMGC_DS01610,BMG_DS002022,Mitral Valve Prolapse | Mitral Valve Prolapse Syndrome | mitral valve prolapse
BMGC_DS01611,BMG_DS002023,Mitral Valve Stenosis | mitral valve stenosis
BMGC_DS01612,BMG_DS002024,Mixed Connective Tissue Disease | mixed connective tissue disease
BMGC_DS01613,BMG_DS002025,pleomorphic adenoma
BMGC_DS01614,BMG_DS002026,Mohr Syndrome | Orofaciodigital Syndromes | orofaciodigital syndrome I | orofaciodigital syndrome type II
BMGC_DS01615,BMG_DS002027,Molluscum Contagiosum | molluscum contagiosum
BMGC_DS01616,BMG_DS002028,Monieziasis | monieziasis
BMGC_DS01617,BMG_DS002030,monoclonal gammopathy of uncertain significance
BMGC_DS01618,BMG_DS002031,monoclonal paraproteinemia | monoclonal paraproteinemia disease
BMGC_DS01619,BMG_DS002033,morphine dependence
BMGC_DS01620,BMG_DS002034,Motion Sickness | motion sickness
BMGC_DS01621,BMG_DS002035,dental fluorosis
BMGC_DS01622,BMG_DS002036,Mouth Diseases | mouth disease | mouth disorder
BMGC_DS01623,BMG_DS002037,oral cavity neoplasm
BMGC_DS01624,BMG_DS002038,Movement Disorders | movement disease | movement disorder
BMGC_DS01625,BMG_DS002039,Moyamoya Disease | Moyamoya disease
BMGC_DS01626,BMG_DS002040,Appendicular mucocele | Mucocele of appendix | Mucocele of appendix (disorder) | Mucocoele of appendix | mucocele of appendix
BMGC_DS01627,BMG_DS002041,mucocele of salivary gland
BMGC_DS01628,BMG_DS002042,Kawasaki disease | Mucocutaneous Lymph Node Syndrome | mucocutaneous lymph node syndrome
BMGC_DS01629,BMG_DS002043,Mucolipidoses | glycoproteinosis | mucolipidosis
BMGC_DS01630,BMG_DS002044,Mucopolysaccharidoses | mucopolysaccharidosis
BMGC_DS01631,BMG_DS002045,Mucopolysaccharidosis II | mucopolysaccharidosis II | mucopolysaccharidosis type 2
BMGC_DS01632,BMG_DS002046,Mucopolysaccharidosis III | mucopolysaccharidosis III | mucopolysaccharidosis type 3
BMGC_DS01633,BMG_DS002047,Mucopolysaccharidosis IV | mucopolysaccharidosis IV | mucopolysaccharidosis type 4
BMGC_DS01634,BMG_DS002048,Mucopolysaccharidosis I | Mucopolysaccharidosis V | Scheie syndrome
BMGC_DS01635,BMG_DS002049,Mucopolysaccharidosis VI | mucopolysaccharidosis VI | mucopolysaccharidosis type 6
BMGC_DS01636,BMG_DS002050,Mucormycosis | Mucormycosis (disorder) | Phycomycosis | Zygomycosis | Zygomycosis (& [mucormycosis]) | Zygomycosis (& [mucormycosis]) (disorder) | mucormycosis
BMGC_DS01637,BMG_DS002051,Multiple Carboxylase Deficiency | multiple carboxylase deficiency
BMGC_DS01638,BMG_DS002052,multiple epiphyseal dysplasia
BMGC_DS01639,BMG_DS002053,multiple myeloma | plasma cell myeloma
BMGC_DS01640,BMG_DS002054,Multiple Organ Failure | multiple organ dysfunction syndrome
BMGC_DS01641,BMG_DS002055,Multiple Sclerosis | multiple sclerosis
BMGC_DS01642,BMG_DS002056,multiple personality disorder
BMGC_DS01643,BMG_DS002057,Mumps | Mumps (disorder) | mumps | mumps infectious disease
BMGC_DS01644,BMG_DS002058,muscular atrophy
BMGC_DS01645,BMG_DS002059,"Muscular Atrophy, Spinal | Spinal Muscular Atrophy | spinal muscular atrophy"
BMGC_DS01646,BMG_DS002060,Disorder of muscle | Disorder of skeletal AND/OR smooth muscle | Disorder of skeletal AND/OR smooth muscle (disorder) | Muscular Diseases | Muscular dystrophy &/or myopathies | Muscular dystrophy &/or myopathies (disorder) | Muscular dystrophy/myopathies | Myopathic disease | Myopathic syndrome | Myopathy | Myopathy (disorder) | muscle tissue disorder | myopathy
BMGC_DS01647,BMG_DS002062,Muscular Dystrophies | Muscular Dystrophy | muscular dystrophy
BMGC_DS01648,BMG_DS002063,"Muscular Dystrophy, Animal | muscular dystrophy, non-human animal"
BMGC_DS01649,BMG_DS002064,Musculoskeletal Diseases | musculoskeletal system disease | musculoskeletal system disorder
BMGC_DS01650,BMG_DS002065,(Mutism) or (deaf mutism NOS) | (Mutism) or (deaf mutism NOS) (disorder) | Deaf mutism NOS | Muteness | Mutism | Mutism (finding) | mutism
BMGC_DS01651,BMG_DS002066,Myasthenia Gravis | myasthenia gravis
BMGC_DS01652,BMG_DS002068,Mycobacterium avium complex disease | Mycobacterium avium-intracellulare Infection
BMGC_DS01653,BMG_DS002069,Mycobacterium Infections | mycobacterial infectious disease
BMGC_DS01654,BMG_DS002070,"Mycobacterium Infections, Nontuberculous"
BMGC_DS01655,BMG_DS002071,Mycoplasma Infections
BMGC_DS01656,BMG_DS002073,(Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) | Dermatophytosis | Dermatophytosis-tinea/ringworm | Disease caused by fungus | Fungal infection | Fungal infections | Fungal infectious disease | Fungus infection | Mycoses | Mycoses (disorder) | Mycosis | Mycosis (disorder) | Mycotic disease | Ringworm | Tinea | fungal infectious disease
BMGC_DS01657,BMG_DS002074,mycosis fungoides
BMGC_DS01658,BMG_DS002075,"Encephalitis | Encephalitis &/or myelitis | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis (disorder) | Encephalitis &/or myelitis (disorder) | Encephalitis, myelitis and encephalomyelitis | Encephalitis/myelitis | Encephalomyelitis | Myelitis | Myelitis (disorder) | Transverse myelitis | myelitis"
BMGC_DS01659,BMG_DS002076,"Myelitis, Transverse | transverse myelitis"
BMGC_DS01660,BMG_DS002077,myelofibrosis
BMGC_DS01661,BMG_DS002078,acute myeloblastic leukemia without maturation | acute myeloid leukemia without maturation
BMGC_DS01662,BMG_DS002079,bone marrow cancer
BMGC_DS01663,BMG_DS002080,(Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | Fly larva infestation | Infestation by fly larvae | Infestation by maggots | Infestation caused by fly larvae | Infestation caused by fly larvae (disorder) | Infestation caused by maggots | Leech infestation | Maggot infestation | Myiasis | Myiasis - fly larvae infestation | Other infect. and parasit.dis. | Other infectious and parasitic diseases | Toxoplasmosis | myiasis
BMGC_DS01664,BMG_DS002086,benign granular cell tumor | myoblastoma
BMGC_DS01665,BMG_DS002087,Myocardial Infarction | myocardial infarction
BMGC_DS01666,BMG_DS002088,Myocardial inflammation | Myocarditis | Myocarditis (disorder) | myocarditis
BMGC_DS01667,BMG_DS002089,Interstitial myocarditis | Interstitial myocarditis (disorder) | interstitial myocarditis
BMGC_DS01668,BMG_DS002091,myoepithelial tumor | myoepithelioma
BMGC_DS01669,BMG_DS002092,Myofascial Pain Syndromes | myofascial pain syndrome
BMGC_DS01670,BMG_DS002093,benign muscle neoplasm | myoma
BMGC_DS01671,BMG_DS002094,Myopia | Myopia (disorder) | Near sighted | Nearsightedness | myopia
BMGC_DS01672,BMG_DS002095,muscle cancer
BMGC_DS01673,BMG_DS002096,Inflammatory disorder of muscle | Inflammatory myopathy | Muscle inflammation | Myositis | Myositis (disorder) | myositis | myositis disease
BMGC_DS01674,BMG_DS002097,Myositis Ossificans | myositis ossificans
BMGC_DS01675,BMG_DS002099,Myotonic Dystrophy | myotonic dystrophy | myotonic dystrophy type 1
BMGC_DS01676,BMG_DS002100,Batten-Turner congenital myopathy | Myotonia Congenita | Thomsen and Becker disease | myotonia congenita
BMGC_DS01677,BMG_DS002101,Myotonic cataract | Myotonic cataract (disorder) | myotonic cataract
BMGC_DS01678,BMG_DS002103,Acquired hypothyroidism | Cretinism | Hypothyroidism | Hypothyroidism - congenital and acquired | Hypothyroidism - congenital and acquired (& [cretinism] or [myxedema]) | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) (disorder) | Hypothyroidism-congen.+ acqui. | Hypothyroidism: &/or (acquired) | Hypothyroidism: &/or (acquired) (disorder) | Myxedema | Myxedema (disorder) | Myxoedema | Thyroid deficiency | myxedema
BMGC_DS01679,BMG_DS002106,myxosarcoma
BMGC_DS01680,BMG_DS002109,Nail Diseases | nail disease | nail disorder
BMGC_DS01681,BMG_DS002110,Nail-Patella Syndrome | nail-patella syndrome
BMGC_DS01682,BMG_DS002112,narcissistic personality disorder
BMGC_DS01683,BMG_DS002113,(CNS disorders NOS) or (narcolepsy) or (Ondine's curse) or (Schilder's disease) | (CNS disorders NOS) or (narcolepsy) or (Ondine's curse) or (Schilder's disease) (disorder) | CNS disorders NOS | Gelineau's syndrome | Narcolepsy | Narcolepsy (disorder) | Narcoleptic syndrome | Ondine's curse | Paroxysmal sleep | Schilder's disease | narcolepsy
BMGC_DS01684,BMG_DS002114,nasal cavity polyp
BMGC_DS01685,BMG_DS002116,Nasopharyngeal Diseases | nasopharyngeal disease | nasopharyngeal disorder
BMGC_DS01686,BMG_DS002117,nasopharyngeal neoplasm
BMGC_DS01687,BMG_DS002118,Nasopharyngitis | Nasopharyngitis (disorder) | Rhinopharyngitis | nasopharyngitis
BMGC_DS01688,BMG_DS002119,teeth present at birth
BMGC_DS01689,BMG_DS002120,Necatoriasis | Necatoriasis (disorder) | Necatorosis | necatoriasis
BMGC_DS01690,BMG_DS002124,Necrobiosis Lipoidica | necrobiosis lipoidica
BMGC_DS01691,BMG_DS002125,AVN (avascular necrosis) of bone | AVN - Avascular necrosis of bone | Aseptic necrosis | Aseptic necrosis of bone | Aseptic necrosis of bone (disorder) | Avascular necrosis of bone | Avascular necrosis of bone (disorder) | Bone necrosis | Osteonecrosis | avascular necrosis | osteonecrosis
BMGC_DS01692,BMG_DS002127,Nelson syndrome
BMGC_DS01693,BMG_DS002129,"Helminthiasis | Infections, Nematomorpha"
BMGC_DS01694,BMG_DS002130,Neonatal Abstinence Syndrome | Neonatal abstinence syndrome | Neonatal abstinence syndrome (disorder) | Neonatal substance withdrawal syndrome | Neonatal withdrawal symptoms from maternal use of drugs of addiction | Neonatal withdrawal syndrome | Substance withdrawal syndrome in neonate of dependent mother | Substance withdrawal syndrome in newborn | neonatal abstinence syndrome
BMGC_DS01695,BMG_DS002131,Neonatal dacryocystitis and conjunctivitis | Neonatal dacryocystitis and conjunctivitis (disorder) | ophthalmia neonatorum
BMGC_DS01696,BMG_DS002132,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities"
BMGC_DS01697,BMG_DS002134,neoplasm
BMGC_DS01698,BMG_DS002135,embryonal cancer | embryonal neoplasm
BMGC_DS01699,BMG_DS002136,connective tissue cancer | connective tissue neoplasm
BMGC_DS01700,BMG_DS002137,germ cell and embryonal cancer
BMGC_DS01701,BMG_DS002138,multiple endocrine neoplasia
BMGC_DS01702,BMG_DS002139,muscle benign neoplasm
BMGC_DS01703,BMG_DS002140,nervous system cancer
BMGC_DS01704,BMG_DS002142,hereditary neoplastic syndrome
BMGC_DS01705,BMG_DS002143,Nephritis | Nephritis (disorder) | nephritis
BMGC_DS01706,BMG_DS002144,Alport syndrome | Alport's syndrome | Benign familial haematuria | Benign familial hematuria | Familial haematuria | Familial hematuria | Familial nephritis | GN - Hereditary glomerulonephritis | Hereditary glomerulonephritis | Hereditary nephritis | Hereditary nephritis (disorder) | Non-progressive hereditary glomerulonephritis | hereditary nephritis
BMGC_DS01707,BMG_DS002145,"Nephritis, Interstitial | interstitial nephritis"
BMGC_DS01708,BMG_DS002146,Wilms tumor | nephroblastoma
BMGC_DS01709,BMG_DS002147,"(Disorders of calcium metabolism [& calcinosis]) or (nephrocalcinosis) | (Disorders of calcium metabolism [& calcinosis]) or (nephrocalcinosis) (disorder) | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Calcinosis | Calcium disorder | Disorders of calcium metabolism | Hypercalcaemia | Hypercalcemia | Hypercalcinuria | Hypocalcaemia | Hypocalcemia | Nephrocalcinosis | Nephrocalcinosis (disorder) | Phosphorus and calcium disorders | Phosphorus disorder | Phosphorus, calcium disorders | nephrocalcinosis"
BMGC_DS01710,BMG_DS002148,Arteriosclerosis of kidney | Chronic arteriosclerotic nephritis | Hypertensive nephropathy | Hypertensive renal disease | Hypertensive renal disease (& [nephrosclerosis]) | Hypertensive renal disease (& [nephrosclerosis]) (disorder) | Interstitial arteriosclerotic nephritis | Nephrosclerosis | Nephrosclerosis (disorder) | Renal arteriosclerosis | Renal sclerosis | nephrosclerosis
BMGC_DS01711,BMG_DS002149,Disease of kidney | Disorder of kidney | Kidney disease | Kidney disease (disorder) | Nephropathy | Nephrosis | Renal disease | Renal disorder | nephrosis
BMGC_DS01712,BMG_DS002150,Light negative glomerulonephritis | Lipid nephrosis | Lipoid nephrosis | MCD - Minimal change disease | MCGN - Minimal change glomerulonephritis | MCN - Minimal change nephropathy | MCNS - Minimal change nephrotic syndrome | Minimal change disease | Minimal change disease (disorder) | Minimal change glomerulonephritis | Minimal change nephropathy | Minimal change nephrotic syndrome | Nephrotic syndrome (& [minimal change glomerulonephritis] or [steroid sensitive]) | Nephrotic syndrome (& [minimal change glomerulonephritis] or [steroid sensitive]) (disorder) | Nephrotic syndrome with minimal change glomerulonephritis | Nil disease | Steroid sensitive nephrotic syndrome | lipoid nephrosis
BMGC_DS01713,BMG_DS002151,Nephrotic Syndrome | nephrotic syndrome
BMGC_DS01714,BMG_DS002152,nerve compression syndrome
BMGC_DS01715,BMG_DS002153,neurodegenerative disease
BMGC_DS01716,BMG_DS002154,nervous system disease | nervous system disorder
BMGC_DS01717,BMG_DS002156,Islet cell hyperplasia | Islet cell hyperplasia (disorder) | Nesidioblastosis | Pancreatic endocrine cell hyperplasia | hyperinsulinemic hypoglycemia
BMGC_DS01718,BMG_DS002157,neural tube defect
BMGC_DS01719,BMG_DS002158,neuralgia
BMGC_DS01720,BMG_DS002160,neurilemmoma | schwannoma
BMGC_DS01721,BMG_DS002161,Inflammatory neuropathy | Inflammatory neuropathy (disorder) | Neuritis | Neuritis (disorder) | neuritis
BMGC_DS01722,BMG_DS002162,neuroblastoma
BMGC_DS01723,BMG_DS002163,Neurocirculatory Asthenia | neurocirculatory asthenia
BMGC_DS01724,BMG_DS002164,Neurodermatitis | Neurodermatitis (disorder) | neurodermatitis
BMGC_DS01725,BMG_DS002165,neurofibroma
BMGC_DS01726,BMG_DS002166,neurofibromatosis 1 | neurofibromatosis type 1
BMGC_DS01727,BMG_DS002167,NF2-related schwannomatosis | vestibular schwannomatosis
BMGC_DS01728,BMG_DS002168,Neuroleptic Malignant Syndrome | neuroleptic malignant syndrome
BMGC_DS01729,BMG_DS002169,neuroma
BMGC_DS01730,BMG_DS002170,acoustic neuroma
BMGC_DS01731,BMG_DS002171,Neuromuscular Diseases | neuromuscular disease
BMGC_DS01732,BMG_DS002172,Neuromyelitis Optica | neuromyelitis optica
BMGC_DS01733,BMG_DS002173,Neuronal Ceroid-Lipofuscinoses | neuronal ceroid lipofuscinosis
BMGC_DS01734,BMG_DS002174,neuronitis
BMGC_DS01735,BMG_DS002175,Hereditary Motor and Sensory Neuropathies | Hereditary Sensory and Motor Neuropathy | hereditary motor and sensory neuropathy | motor peripheral neuropathy
BMGC_DS01736,BMG_DS002176,Hereditary Sensory and Autonomic Neuropathies | hereditary sensory and autonomic neuropathy | hereditary sensory neuropathy
BMGC_DS01737,BMG_DS002177,GPI - General paresis of the insane | GPI-general paralysis insane | Neurosyphilis | Neurosyphilis (& [GPI] or [tabes dorsalis]) | Neurosyphilis (& [GPI] or [tabes dorsalis]) (disorder) | Neurosyphilis (disorder) | Syphilis of central nervous system | Tabes dorsalis | neurosyphilis | tertiary neurosyphilis
BMGC_DS01738,BMG_DS002178,neurotic disorder
BMGC_DS01739,BMG_DS002179,(Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) | (Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) (disorder) | Agranulocytosis | Kostmann's syndrome | Neutropenia | Neutropenia (disorder) | Neutropenia (finding) | Neutropenic disorder | Neutropenic disorder (disorder) | neutropenia | severe congenital neutropenia
BMGC_DS01740,BMG_DS002181,melanocytic nevus
BMGC_DS01741,BMG_DS002182,Newcastle Disease | Newcastle disease
BMGC_DS01742,BMG_DS002183,nicotine dependence
BMGC_DS01743,BMG_DS002184,Niemann-Pick Diseases | Niemann-Pick disease
BMGC_DS01744,BMG_DS002185,Day blindness | Day blindness (disorder) | Difficulty seeing at night | Hemeralopia | Night Blindness | Night blindness | Night blindness (disorder) | Nyctalopia | night blindness
BMGC_DS01745,BMG_DS002186,Nocardia Infections | nocardiosis
BMGC_DS01746,BMG_DS002188,multiple symmetric lipomatosis
BMGC_DS01747,BMG_DS002190,"Acute gangrenous stomatitis | Cancrum oris | Cancrum oris (disorder) | Gangrenous stomatitis | Necrotising ulcerative gingivitis, unspecified | Noma | Noma (& [cancrum oris] or [gangrenous stomatitis]) | Noma (& [cancrum oris] or [gangrenous stomatitis]) (disorder) | noma"
BMGC_DS01748,BMG_DS002193,Noonan Syndrome | Noonan syndrome
BMGC_DS01749,BMG_DS002194,Crusted scabies | Crusted scabies (disorder) | Norwegian scabies | norwegian scabies
BMGC_DS01750,BMG_DS002195,Nose Diseases | nasal disorder | nose disease
BMGC_DS01751,BMG_DS002198,Finding of nocturia | Finding of nocturia (finding) | Nocturia | Nocturia (finding) | Nocturia - finding | Nycturia
BMGC_DS01752,BMG_DS002199,Congenital nystagmus | Nystagmus | Nystagmus &/or other irregular eye movements | Nystagmus &/or other irregular eye movements (disorder) | Nystagmus (& [congenital]) | Nystagmus (& [congenital]) (disorder) | Nystagmus (disorder) | Nystagmus and other irregular eye movements | pathologic nystagmus
BMGC_DS01753,BMG_DS002200,Adiposis | Adiposity | Adiposity (disorder) | Calorie overload | Obesity | Obesity (disorder) | Simple obesity | obesity | obesity disorder
BMGC_DS01754,BMG_DS002201,Morbid obesity | Morbid obesity (disorder) | morbid obesity
BMGC_DS01755,BMG_DS002202,obsessive-compulsive disorder
BMGC_DS01756,BMG_DS002203,cerebral artery occlusion
BMGC_DS01757,BMG_DS002204,"Dermatitis, Occupational | occupational dermatitis"
BMGC_DS01758,BMG_DS002205,Occupational Diseases | occupational disorder
BMGC_DS01759,BMG_DS002206,"Alcaptonuric ochronosis | Alkaptonuric ochronosis | Ochronosis | Ochronosis (disorder) | Ochronosis due to alkaptonuria | Ochronosis due to homogentisate 1,2-dioxygenase deficiency | Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder) | Pigmentation due to alkaptonuria | ochronosis | ochronosis disorder"
BMGC_DS01760,BMG_DS002207,Ocular Hypertension | ocular hypertension
BMGC_DS01761,BMG_DS002208,Ocular Hypotension | ocular hypotension
BMGC_DS01762,BMG_DS002210,Ocular Motility Disorders | ocular motility disease
BMGC_DS01763,BMG_DS002211,Ocular Motility Disorders | Ocular Torticollis
BMGC_DS01764,BMG_DS002212,Oculocerebrorenal Syndrome | oculocerebrorenal syndrome
BMGC_DS01765,BMG_DS002213,Oculomotor Nerve Diseases | Oculomotor Nerve Paralysis | oculomotor nerve paralysis
BMGC_DS01766,BMG_DS002217,Infection by Oesophagostomum | Infection by Oesophagostomum (disorder) | Nodular worm disease | Oesophagostomiasis | oesophagostomiasis
BMGC_DS01767,BMG_DS002218,oligodendroglioma
BMGC_DS01768,BMG_DS002219,Oligospermia | oligospermia
BMGC_DS01769,BMG_DS002220,Oligouria | Oliguria | Oliguria (finding) | Passes too little urine
BMGC_DS01770,BMG_DS002221,Olivopontocerebellar Atrophies | olivopontocerebellar atrophy
BMGC_DS01771,BMG_DS002224,Infection by Onchocerca volvulus | Infection caused by Onchocerca volvulus | Infection caused by Onchocerca volvulus (disorder) | Onchocerciasis | Onchocercosis | onchocerciasis
BMGC_DS01772,BMG_DS002226,Chronic pelvic inflam. dis.NOS | Inflam. dis.- pelvic | Inflammation of ovary | Oophoritis | Oophoritis (disorder) | Pelvic inflammatory disease | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) (disorder) | Salpingitis | oophoritis
BMGC_DS01773,BMG_DS002227,ophthalmia neonatorum
BMGC_DS01774,BMG_DS002228,"Ophthalmia, Sympathetic | sympathetic ophthalmia"
BMGC_DS01775,BMG_DS002229,ophthalmoplegia
BMGC_DS01776,BMG_DS002230,opioid abuse
BMGC_DS01777,BMG_DS002231,Cat liver fluke infection | Opisthorchiasis | Opisthorchiasis (& [cat liver fluke infection]) | Opisthorchiasis (& [cat liver fluke infection]) (disorder) | Opisthorchiasis (disorder) | Opisthorchiosis | opisthorchiasis
BMGC_DS01778,BMG_DS002233,Opportunistic mycosis | Opportunistic mycosis (disorder) | opportunistic mycosis
BMGC_DS01779,BMG_DS002234,oppositional defiant disorder
BMGC_DS01780,BMG_DS002235,Optic Atrophy | optic atrophy
BMGC_DS01781,BMG_DS002236,"Optic Atrophies, Hereditary | hereditary optic atrophy"
BMGC_DS01782,BMG_DS002237,Optic Disk Drusen | optic disk drusen
BMGC_DS01783,BMG_DS002238,Disorder of optic nerve | Disorder of optic nerve (disorder) | Disorders of optic nerve &/or visual pathways | Disorders of optic nerve &/or visual pathways (disorder) | Disorders of optic nerve and visual pathways | Disorders of the IInd cranial nerve | Disorders of the second nerve | Optic nerve disorders | Optic neuropathy | Visual path disorder | optic nerve disease
BMGC_DS01784,BMG_DS002239,Optic Neuritis | optic neuritis
BMGC_DS01785,BMG_DS002240,oral submucous fibrosis
BMGC_DS01786,BMG_DS002241,Oral Submucous Fibrosis | oral submucous fibrosis
BMGC_DS01787,BMG_DS002242,Orbital Diseases | disease of orbital part of eye adnexa | orbital disease
BMGC_DS01788,BMG_DS002243,orbit neoplasm | orbital cancer
BMGC_DS01789,BMG_DS002244,Inflammation of testis | Non-specific orchitis | Orchitis | Orchitis (disorder) | orchitis
BMGC_DS01790,BMG_DS002245,ABS - Acute brain syndrome | Acute brain syndrome | Acute confusional state | Acute organic reaction | Acute psycho-organic syndrome | Delirium | Delirium (disorder) | OBS - Organic brain syndrome | Organic brain syndrome | Organic brain syndrome (disorder)
BMGC_DS01791,BMG_DS002246,cognitive disorder
BMGC_DS01792,BMG_DS002248,Chlamydia psittaci infection | Ornithosis | Ornithosis (disorder) | Parrot fever | Parrot fever due to Chlamydia psitacci | Psittacosis | Psittacosis (disorder) | ornithosis
BMGC_DS01793,BMG_DS002249,Orofaciodigital Syndromes | orofaciodigital syndrome | orofaciodigital syndrome I
BMGC_DS01794,BMG_DS002250,neoplasm of oropharynx
BMGC_DS01795,BMG_DS002252,Orthomyxoviridae Infections
BMGC_DS01796,BMG_DS002253,Juvenile osteochondrosis of tibial tubercle | Juvenile osteochondrosis of tibial tubercle (disorder) | Osgood Schlatter disease | Osgood Schlatters disease | Osgood-Schlatter disease | Osgood-Schlatter's disease
BMGC_DS01797,BMG_DS002254,Bone inflammatory disease | Bone inflammatory disease (disorder) | Inflammation of bone | Inflammatory disorder of bone | Osteitis | Osteitis (disorder) | bone inflammation disease
BMGC_DS01798,BMG_DS002255,Osteitis Deformans | Paget's disease of bone | bone Paget disease
BMGC_DS01799,BMG_DS002256,Osteitis Fibrosa Cystica | osteitis fibrosa
BMGC_DS01800,BMG_DS002257,Degenerative arthritis | Degenerative arthropathy | Degenerative joint disease | Degenerative joint disease (disorder) | Degenerative polyarthritis | Degenerative polyarthritis (disorder) | Hypertrophic arthritis | Hypertrophic polyarthritis | OA - Osteoarthritis | OA - Osteoarthrosis | Osteoarthritis | Osteoarthritis (disorder) | Osteoarthritis deformans | Osteoarthrosis | Osteoarthrosis deformans | Proliferative arthritis | osteoarthritis
BMGC_DS01801,BMG_DS002258,"Coxae malum senilis | Degenerative joint disease of hip | OA - Osteoarthritis of hip | Osteoarthritis of hip | Osteoarthritis of hip (disorder) | osteoarthritis, hip"
BMGC_DS01802,BMG_DS002259,"Osteoarthropathy, Primary Hypertrophic | primary hypertrophic osteoarthropathy"
BMGC_DS01803,BMG_DS002260,"Osteoarthropathy, Secondary Hypertrophic | secondary hypertrophic osteoarthropathy"
BMGC_DS01804,BMG_DS002263,Osteochondritis Dissecans | osteochondritis dissecans
BMGC_DS01805,BMG_DS002264,Osteochondrodysplasias | osteochondrodysplasia
BMGC_DS01806,BMG_DS002266,Juvenile osteochondritis | Juvenile osteochondritis (disorder) | Juvenile osteochondrosis | Osteochondritis juvenilis | Osteochondropathy-juven | Osteochondrosis | Osteochondrosis (disorder) | osteochondrosis
BMGC_DS01807,BMG_DS002267,Osteogenesis Imperfecta | osteogenesis imperfecta
BMGC_DS01808,BMG_DS002268,"Gorham's disease | Osteolysis, Essential | disappearing bone disease"
BMGC_DS01809,BMG_DS002270,"Gorham-Stout disease | Massive Osteolyses | Osteolysis, Essential"
BMGC_DS01810,BMG_DS002273,(Vitamin D deficiency) or (osteomalacia) or (rickets) | (Vitamin D deficiency) or (osteomalacia) or (rickets) (disorder) | OM - osteomalacia | Osteomalacia | Osteomalacia (disorder) | Rickets | Vitamin D deficiency | osteomalacia
BMGC_DS01811,BMG_DS002274,OM - Osteomyelitis | OSTM - Osteomyelitis | Osteomyelitis | Osteomyelitis (disorder) | Pyogenic inflammation of bone | osteomyelitis
BMGC_DS01812,BMG_DS002275,osteonecrosis
BMGC_DS01813,BMG_DS002276,"Bone Diseases, Metabolic | Bone loss | Osteopenia | Osteopenia (disorder) | Osteopenia (morphologic abnormality)"
BMGC_DS01814,BMG_DS002277,Osteopetrosis | Osteopetrosis (disorder) | autosomal recessive osteopetrosis 7 | osteopetrosis
BMGC_DS01815,BMG_DS002278,Buschke-Ollendorff syndrome | Osteopoikilosis | Osteopoikilosis (disorder) | osteopoikilosis
BMGC_DS01816,BMG_DS002279,Osteoporosis | Osteoporosis (disorder) | osteoporosis
BMGC_DS01817,BMG_DS002280,"Osteoporosis, Postmenopausal | postmenopausal osteoporosis"
BMGC_DS01818,BMG_DS002281,"Osteoporosis | Osteoporosis, Senile"
BMGC_DS01819,BMG_DS002283,osteosarcoma
BMGC_DS01820,BMG_DS002284,Osteosclerosis | Osteosclerosis (disorder) | osteosclerosis
BMGC_DS01821,BMG_DS002285,Ostertagiasis | ostertagiasis
BMGC_DS01822,BMG_DS002287,Other acne | Other acne (disorder) | sebaceous gland disease
BMGC_DS01823,BMG_DS002288,acute stress disorder
BMGC_DS01824,BMG_DS002289,pituitary gland disease
BMGC_DS01825,BMG_DS002291,chemical colitis | diversion colitis
BMGC_DS01826,BMG_DS002292,ovarian cyst
BMGC_DS01827,BMG_DS002293,psychotic disorder
BMGC_DS01828,BMG_DS002298,Other cataract | Other cataract (disorder) | cataract
BMGC_DS01829,BMG_DS002301,"Movement disorders, unspecified | Other chorea | choreatic disease | syndromic X-linked intellectual disability type 10"
BMGC_DS01830,BMG_DS002309,Other dermatoses | Other dermatoses (disorder) | skin disease
BMGC_DS01831,BMG_DS002310,lower respiratory tract disease | upper respiratory tract disease
BMGC_DS01832,BMG_DS002311,Other respiratory system diseases | Other respiratory system diseases (disorder) | respiratory system disease
BMGC_DS01833,BMG_DS002312,Other disorders of lens
BMGC_DS01834,BMG_DS002313,Other disorders of lipoid metabolism | Other disorders of lipoid metabolism (disorder) | lipid storage disease
BMGC_DS01835,BMG_DS002315,plasma protein metabolism disease
BMGC_DS01836,BMG_DS002316,"Disorders of purine and pyrimidine metabolism: [Lesch-Nyhan syndrome] or [other] | Disorders of purine and pyrimidine metabolism: [Lesch-Nyhan syndrome] or [other] (disorder) | Inborn errors of purine, pyrimidine or nucleotide metabolism, unspecified | Lesch - Nyhan syndrome | Lesch-Nyhan syndrome | Other disorders of purine and pyrimidine metabolism | Other disorders of purine and pyrimidine metabolism (disorder) | purine-pyrimidine metabolic disorder"
BMGC_DS01837,BMG_DS002317,"Emphysema, unspecified | Other emphysema | Other emphysema (morphologic abnormality) | pulmonary emphysema"
BMGC_DS01838,BMG_DS002321,heart conduction disease
BMGC_DS01839,BMG_DS002325,"Diseases of the digestive system, unspecified | Other impaction of intestine | intestinal impaction"
BMGC_DS01840,BMG_DS002326,Other inflammatory spondylopathies | Other inflammatory spondylopathies (disorder) | spondylitis
BMGC_DS01841,BMG_DS002328,Other localized visual field defect | scotoma
BMGC_DS01842,BMG_DS002332,Other mucopurulent conjunctivitis | acute conjunctivitis
BMGC_DS01843,BMG_DS002337,otosclerosis
BMGC_DS01844,BMG_DS002338,(Other ovarian failure) or (ovarian hypogonadism) | (Other ovarian failure) or (ovarian hypogonadism) (disorder) | Other ovarian failure | Other ovarian failure (disorder) | Ovarian hypogonadism | ovarian dysfunction
BMGC_DS01845,BMG_DS002339,Other peripheral vertigo | peripheral vertigo
BMGC_DS01846,BMG_DS002340,personality disorder
BMGC_DS01847,BMG_DS002344,Other specified cardiovascular syphilis | Other specified cardiovascular syphilis (disorder) | cardiovascular syphilis
BMGC_DS01848,BMG_DS002345,urethral stricture
BMGC_DS01849,BMG_DS002350,Certain specified diseases of hard tissues of teeth | Other specified diseases of hard tissues of teeth | teeth hard tissue disease
BMGC_DS01850,BMG_DS002351,"Diseases of pancreas, unspecified | Other specified diseases of pancreas | pancreas disease"
BMGC_DS01851,BMG_DS002353,salivary gland disease
BMGC_DS01852,BMG_DS002358,"Disorders of penis, unspecified | Other specified disorders of penis | penile disease"
BMGC_DS01853,BMG_DS002361,drug dependence
BMGC_DS01854,BMG_DS002365,pleurisy
BMGC_DS01855,BMG_DS002366,Other specified gastritis | Other specified gastritis (disorder) | gastroduodenitis
BMGC_DS01856,BMG_DS002367,prolapse of female genital organ
BMGC_DS01857,BMG_DS002370,"Coagulation defects, unspecified | Other specified haemorrhagic conditions | Other specified haemorrhagic conditions (disorder) | Other specified hemorrhagic conditions | Other specified hemorrhagic conditions (disorder) | platelet-type bleeding disorder 11 | platelet-type bleeding disorder 3 | platelet-type bleeding disorder 8 | platelet-type bleeding disorder 9"
BMGC_DS01858,BMG_DS002371,acrodermatitis chronica atrophicans
BMGC_DS01859,BMG_DS002373,iron deficiency anemia
BMGC_DS01860,BMG_DS002379,Other specified peritonitis | Other specified peritonitis (disorder) | peritonitis
BMGC_DS01861,BMG_DS002381,Other specified schistosomiasis | Other specified schistosomiasis (disorder) | schistosomiasis
BMGC_DS01862,BMG_DS002383,Other specified strabismus | Other specified strabismus (disorder) | Other specified strabismus or ocular motility disorders | strabismus
BMGC_DS01863,BMG_DS002384,trigeminal nerve disease
BMGC_DS01864,BMG_DS002385,Other specified tularaemia | Other specified tularemia | Other specified tularemia (disorder) | gastrointestinal tularemia | tularemia
BMGC_DS01865,BMG_DS002386,(Other specified urticaria) or (nettle rash) | (Other specified urticaria) or (nettle rash) (disorder) | Nettle rash | Other specified urticaria | Other specified urticaria (disorder) | urticaria
BMGC_DS01866,BMG_DS002388,Other specified viral exanthemata | Other specified viral exanthemata (disorder) | viral exanthem
BMGC_DS01867,BMG_DS002391,Other spontaneous pneumothorax | Other spontaneous pneumothorax (disorder) | pneumothorax
BMGC_DS01868,BMG_DS002394,ureteral obstruction
BMGC_DS01869,BMG_DS002397,"Other vitreous opacities | Other vitreous opacities (disorder) | Vitreous opacities, membranes or strands | vitreous disease"
BMGC_DS01870,BMG_DS002398,Ear Inflammation | Otitis
BMGC_DS01871,BMG_DS002399,Otitis Externa | otitis externa
BMGC_DS01872,BMG_DS002400,Otitis Media | otitis media
BMGC_DS01873,BMG_DS002401,Otitis Media with Effusion
BMGC_DS01874,BMG_DS002402,"Left otitis media - supp | Otitis media - purulent | Otitis media, suppurative | Purulent otitis media | Purulent otitis media (disorder) | Right otitis media - supp | Suppurative otitis med. | Suppurative otitis media | Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media | Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media (disorder) | suppurative otitis media"
BMGC_DS01875,BMG_DS002403,Otitis mycotic externa | Otomycosis | Otomycosis (disorder) | otomycosis
BMGC_DS01876,BMG_DS002406,Ovarian Cysts | ovarian cyst
BMGC_DS01877,BMG_DS002407,Ovarian Diseases | ovarian disease
BMGC_DS01878,BMG_DS002409,(Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) (disorder) | (Threadworm enterobiasis) or (oxyuriasis) or (pinworm) | (Threadworm enterobiasis) or (oxyuriasis) or (pinworm) (disorder) | Enterobiasis | Enterobiasis (disorder) | Enterobiasis - threadworm | Enterobiosis | Filaria | Flukes | Infection by Enterobius vermicularis | Infection by Enterobius vermicularis (disorder) | Other helminthiases | Oxyuriasis | Pinworm | Pinworm disease | Pinworm infection | Schistosomiasis | Taenia infestation | Tapeworms | Threadworm infection | Toxocara | Trichinosis | enterobiasis
BMGC_DS01879,BMG_DS002411,Meningitis | Pachymeningitis | Pachymeningitis (disorder)
BMGC_DS01880,BMG_DS002413,extramammary Paget disease
BMGC_DS01881,BMG_DS002415,Psoriasis | Pustulosis of Palms and Soles | pustulosis of palm and sole | pustulosis palmaris et plantaris
BMGC_DS01882,BMG_DS002417,Pancoast syndrome | Pancoast tumor
BMGC_DS01883,BMG_DS002418,Pancreatic Cyst
BMGC_DS01884,BMG_DS002419,Pancreatic Diseases | pancreas disorder
BMGC_DS01885,BMG_DS002420,Pancreatic Fistula
BMGC_DS01886,BMG_DS002421,pancreatic cancer | pancreatic neoplasm
BMGC_DS01887,BMG_DS002422,Pancreatic Pseudocyst
BMGC_DS01888,BMG_DS002423,Acute pancreatitis NOS | Inflammation of pancreas | Pancreatitis | Pancreatitis (& [acute NOS]) | Pancreatitis (& [acute NOS]) (disorder) | Pancreatitis (disorder) | pancreatitis
BMGC_DS01889,BMG_DS002424,Pancytopenia | Pancytopenia (disorder) | pancytopenia
BMGC_DS01890,BMG_DS002425,panic disorder
BMGC_DS01891,BMG_DS002426,(Nonarticular rheumatism NOS) or (panniculitis) | (Nonarticular rheumatism NOS) or (panniculitis) (disorder) | Nonarticular rheumatism NOS | Panniculitis | Panniculitis (disorder) | panniculitis
BMGC_DS01892,BMG_DS002428,"Panniculitis, Nodular Nonsuppurative | nodular non-suppurative panniculitis | nodular nonsuppurative panniculitis"
BMGC_DS01893,BMG_DS002430,"Panniculitis | Panniculitis, Subacute Nodular Migratory"
BMGC_DS01894,BMG_DS002431,Panophthalmitis | Panophthalmitis (disorder) | panophthalmitis
BMGC_DS01895,BMG_DS002432,Diffuse uveitis | Panuveitis | Panuveitis (disorder) | panuveitis
BMGC_DS01896,BMG_DS002433,Blurring of optic disk | Choked disc | Choked disk | Edema of optic disc | Edema of optic disc (disorder) | Optic disc edema | Optic disc oedema | Papilledema | Papilledema (disorder) | Papilledema - optic disc edema due to raised intracranial pressure | Papilledema - optic disc edema due to raised intracranial pressure (disorder) | Papilledema due to raised intracranial pressure | Papilloedema | Papilloedema (disorder) | Papilloedema - optic disc oedema due to raised intracranial pressure | Papilloedema due to raised intracranial pressure | optic papillitis | papilledema
BMGC_DS01897,BMG_DS002434,papilloma
BMGC_DS01898,BMG_DS002435,Papillon-Lefevre Disease | Papillon-Lefevre disease
BMGC_DS01899,BMG_DS002437,Phlebotomus Fever | Phlebotomus fever | phlebotomus fever
BMGC_DS01900,BMG_DS002439,Brazilian blastomycosis | Infection by Blastomyces brasiliensis | Infection by Paracoccidioides brasiliensis | Lutz-Splendore-Almeida disease | Paracoccidioidomycosis | Paracoccidioidomycosis (disorder) | South American blastomycosis | paracoccidioidomycosis
BMGC_DS01901,BMG_DS002440,paraganglioma
BMGC_DS01902,BMG_DS002441,Endemic oriental haemoptysis | Endemic oriental hemoptysis | Infection by Paragonimus | Infection caused by Paragonimus | Infection caused by Paragonimus (disorder) | Lung fluke disease | Lung fluke infection | Oriental lung fluke disease | Paragonimiasis | Paragonimosis | Pulmonary distomatosis | Pulmonary distomiasis | Pulmonary paragonimiasis | paragonimiasis
BMGC_DS01903,BMG_DS002442,Parakeratosis | Parakeratosis (disorder) | Parakeratosis (morphologic abnormality)
BMGC_DS01904,BMG_DS002443,Parakeratosis Variegata | Parapsoriasis
BMGC_DS01905,BMG_DS002444,Bulbar palsy | Bulbar paralysis | PBP - Progressive bulbar palsy | Progressive bulbar palsy | Progressive bulbar palsy (disorder) | progressive bulbar palsy
BMGC_DS01906,BMG_DS002445,"Familial Periodic Paralysis | Paralyses, Familial Periodic | familial periodic paralysis"
BMGC_DS01907,BMG_DS002446,Intestinal Pseudo-Obstruction | Paralytic Ileus | paralytic ileus
BMGC_DS01908,BMG_DS002447,Inflammatory disease of female pelvic organs AND/OR tissues | Inflammatory disease of female pelvic organs AND/OR tissues (disorder) | Parametritis | Parametritis (disorder) | parametritis
BMGC_DS01909,BMG_DS002449,paranasal sinus disease | paranasal sinus disorder
BMGC_DS01910,BMG_DS002450,paranasal sinus benign neoplasm | paranasal sinus neoplasm
BMGC_DS01911,BMG_DS002451,paraneoplastic syndrome
BMGC_DS01912,BMG_DS002452,paranoid personality disorder
BMGC_DS01913,BMG_DS002453,"Paraparesis, Tropical Spastic | Tropical Spastic Paraparesis | tropical spastic paraparesis"
BMGC_DS01914,BMG_DS002455,Paraphimosis | Paraphimosis (disorder) | paraphimosis
BMGC_DS01915,BMG_DS002456,Lower paraplegia | Paralysis of both lower limbs | Paraplegia | Paraplegia (complete or partial paralysis of legs) | Paraplegia (disorder) | paraplegia
BMGC_DS01916,BMG_DS002458,(Psoriasis NOS) or (guttate psoriasis) or (parapsoriasis) | (Psoriasis NOS) or (guttate psoriasis) or (parapsoriasis) (disorder) | Guttate psoriasis | Parapsoriasis | Parapsoriasis (disorder) | Psoriasis NOS | parapsoriasis
BMGC_DS01917,BMG_DS002459,Parasitic Diseases | parasitic infectious disease
BMGC_DS01918,BMG_DS002460,"Parasitic Diseases, Animal | parasitic disease, non-human animal"
BMGC_DS01919,BMG_DS002461,Parasomnia | Parasomnia (disorder) | Parasomnia (sleep disorder) | Parasomnias
BMGC_DS01920,BMG_DS002462,Parathyroid Diseases | parathyroid gland disease
BMGC_DS01921,BMG_DS002463,parathyroid carcinoma | tumor of parathyroid gland
BMGC_DS01922,BMG_DS002464,Johne disease | Johne's disease | Johne's disease (disorder) | Paratuberculosis | paratuberculosis
BMGC_DS01923,BMG_DS002465,Paratyphoid Fever | paratyphoid fever
BMGC_DS01924,BMG_DS002466,Decreased muscle strength | Muscle strength reduced | Muscle weakness | Muscle weakness (finding) | Paresis
BMGC_DS01925,BMG_DS002467,Paraesthesia | Paraesthesia (numbness/tingling) | Paresthesia | Paresthesia (finding) | Paresthesia (numbness/tingling)
BMGC_DS01926,BMG_DS002468,Parkinson Disease | Parkinson disease | Parkinson's disease
BMGC_DS01927,BMG_DS002469,"Parkinson Disease, Postencephalitic | postencephalitic Parkinson disease"
BMGC_DS01928,BMG_DS002470,"Parkinson Disease, Secondary | Secondary Parkinson Disease | secondary Parkinson disease"
BMGC_DS01929,BMG_DS002471,Paronychia | Paronychia (disorder) | Perionychia | paronychia
BMGC_DS01930,BMG_DS002472,Parotid Diseases | parotid disease | parotid disorder
BMGC_DS01931,BMG_DS002474,Parotitis | Parotitis (disorder) | Sialoadenitis | Sialoadenitis (& [parotitis]) | Sialoadenitis (& [parotitis]) (disorder) | parotitis
BMGC_DS01932,BMG_DS002475,Parovarian Cyst | parovarian cyst
BMGC_DS01933,BMG_DS002476,Atrial paroxysmal tachycardia | PAT - paroxysmal atrial tachycardia | Parox. supravent. tachycardia | Paroxysmal artrial tachycardia | Paroxysmal atrial tachycardia | Paroxysmal atrial tachycardia (disorder) | Paroxysmal sup. tachy. | Supravent. tach. parox. | Supraventricular tachycardia | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) (disorder) | Tachycardia - parox.sup
BMGC_DS01934,BMG_DS002477,Paroxysmal supraventricular tachycardia | Paroxysmal supraventricular tachycardia (disorder)
BMGC_DS01935,BMG_DS002479,Pars Planitis | pars planitis
BMGC_DS01936,BMG_DS002481,"Neonatal Abstinence Syndrome | Passive Addiction, Neonatal"
BMGC_DS01937,BMG_DS002482,Pasteurella Infections | pasteurellosis
BMGC_DS01938,BMG_DS002483,pathological gambling
BMGC_DS01939,BMG_DS002484,Lice Infestations | lice infestation
BMGC_DS01940,BMG_DS002485,Head lice | Head lice infestation | Head louse infestation | Lice infested hair | Lousy hair | Nit infested hair | Nits | Pediculosis capitis | Pediculosis capitis (disorder) | Pediculus capitis infestation | Pediculus humanus capitis infestation
BMGC_DS01941,BMG_DS002486,Body lice | Body louse infestation | Pediculosis corporis | Pediculosis corporis (disorder) | Pediculus corporis infestation | Pediculus humanus corporis infestation | Pediculus humanus infestation
BMGC_DS01942,BMG_DS002487,Crabs | Crabs infestation | Infestation by Phthirus pubis | Infestation by crab lice | Infestation caused by Phthirus pubis | Infestation caused by Phthirus pubis (disorder) | Infestation caused by crab lice | Pediculosis pubis | Phthiriasis pubis | Pthiriasis | Pthirus pubis infestation | Pubic lice | Pubic louse infestation
BMGC_DS01943,BMG_DS002489,Pelger-Huet Anomaly | Pelger-Huet anomaly
BMGC_DS01944,BMG_DS002490,Peliosis Hepatis | peliosis hepatis
BMGC_DS01945,BMG_DS002491,Beri-beri | Beriberi | Pellagra | Pellagra (disorder) | Thiamine deficiency | Thiamine/niacin deficiency | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] (disorder) | pellagra
BMGC_DS01946,BMG_DS002492,Pelvic abscess | Pelvic abscess (disorder)
BMGC_DS01947,BMG_DS002493,Pelvic Infection
BMGC_DS01948,BMG_DS002494,"Pemphigoid, Benign Mucous Membrane | cicatricial pemphigoid | mucous membrane pemphigoid"
BMGC_DS01949,BMG_DS002495,BP - Bullous pemphigoid | Bullous pemphigoid | Bullous pemphigoid (disorder) | bullous pemphigoid
BMGC_DS01950,BMG_DS002496,Pemphigus | Pemphigus (disorder) | pemphigus
BMGC_DS01951,BMG_DS002497,Pemphigus | Pemphigus Vulgaris | pemphigus vulgaris
BMGC_DS01952,BMG_DS002499,Penile Diseases | penile disorder
BMGC_DS01953,BMG_DS002500,Penile Induration | Peyronie Disease | Peyronie disease | Peyronie's disease
BMGC_DS01954,BMG_DS002501,penile benign neoplasm | penile neoplasm
BMGC_DS01955,BMG_DS002502,Peptic Ulcer | peptic ulcer disease
BMGC_DS01956,BMG_DS002503,Peptic Ulcer Perforation | peptic ulcer perforation
BMGC_DS01957,BMG_DS002506,Periapical Abscess | Suppurative Periapical Periodontitis | suppurative periapical periodontitis
BMGC_DS01958,BMG_DS002508,Periapical Granuloma | periapical granuloma
BMGC_DS01959,BMG_DS002509,Periapical Periodontitis | periapical periodontitis
BMGC_DS01960,BMG_DS002512,Polyarteritis Nodosa | polyarteritis nodosa
BMGC_DS01961,BMG_DS002513,Periarthritis | Periarthritis (disorder) | periarthritis
BMGC_DS01962,BMG_DS002514,Hydropericardium | Pericardial effusion | Pericardial effusion (disorder) | pericardial effusion
BMGC_DS01963,BMG_DS002515,Pericarditis | Pericarditis (disorder) | pericarditis
BMGC_DS01964,BMG_DS002516,"Pericarditis, Constrictive | constrictive pericarditis"
BMGC_DS01965,BMG_DS002518,Pericementitis | Periodontitis
BMGC_DS01966,BMG_DS002519,Pericholangitis | Pericholangitis (disorder) | pericholangitis
BMGC_DS01967,BMG_DS002521,Pericoronitis | Pericoronitis (disorder) | pericoronitis
BMGC_DS01968,BMG_DS002522,Perinephritis | Perinephritis (disorder) | perinephritis
BMGC_DS01969,BMG_DS002523,Familial Mediterranean Fever | familial Mediterranean fever
BMGC_DS01970,BMG_DS002525,Periodontal Diseases | periodontal disease | periodontal disorder
BMGC_DS01971,BMG_DS002526,(Gingival and periodontal disease NOS) or (giant cell epulis) or (periodontitis) | (Gingival and periodontal disease NOS) or (giant cell epulis) or (periodontitis) (disorder) | Giant cell epulis | Gingival and periodontal disease NOS | Gingival/periodontal dis. NOS | Periodontitis | Periodontitis (disorder) | periodontitis
BMGC_DS01972,BMG_DS002527,Aggressive Periodontitis | aggressive periodontitis
BMGC_DS01973,BMG_DS002528,Periosteitis fibrosa | Periostitis | Periostitis (disorder) | periostitis
BMGC_DS01974,BMG_DS002529,peripheral vascular disease
BMGC_DS01975,BMG_DS002530,peripheral nervous system disease | peripheral neuropathy
BMGC_DS01976,BMG_DS002531,peripheral nervous system neoplasm
BMGC_DS01977,BMG_DS002534,Periphlebitis | Periphlebitis (disorder) | Phlebitis
BMGC_DS01978,BMG_DS002537,peritoneal neoplasm
BMGC_DS01979,BMG_DS002538,peritonitis
BMGC_DS01980,BMG_DS002539,Peritonsillar Abscess | peritonsillar abscess
BMGC_DS01981,BMG_DS002542,Persistent Fetal Circulation Syndrome | persistent fetal circulation syndrome
BMGC_DS01982,BMG_DS002545,Peutz-Jeghers Syndrome | Peutz-Jeghers syndrome
BMGC_DS01983,BMG_DS002546,Phagocyte Bactericidal Dysfunction | phagocyte bactericidal dysfunction
BMGC_DS01984,BMG_DS002547,Pharyngeal Diseases | disorder of pharynx | pharyngitis
BMGC_DS01985,BMG_DS002548,pharynx cancer | pharynx neoplasm
BMGC_DS01986,BMG_DS002549,Irritation of the throat | Pharyngeal pain | Pharyngitis | Pharyngitis (disorder) | Sore throat | Throat infection | Throat infection - pharyngitis | Throat soreness | pharyngitis
BMGC_DS01987,BMG_DS002550,"Adenovirus Infections, Human | Pharyngo-Conjunctival Fever | pharyngoconjunctival fever"
BMGC_DS01988,BMG_DS002551,phencyclidine abuse
BMGC_DS01989,BMG_DS002552,Phenylketonurias | phenylketonuria
BMGC_DS01990,BMG_DS002553,pheochromocytoma
BMGC_DS01991,BMG_DS002554,phimosis
BMGC_DS01992,BMG_DS002555,phlebitis
BMGC_DS01993,BMG_DS002556,Phlegmasia Alba Dolens | Thrombophlebitis
BMGC_DS01994,BMG_DS002557,social phobia
BMGC_DS01995,BMG_DS002558,Phosphorus Metabolism Disorders | phosphorus metabolism disease
BMGC_DS01996,BMG_DS002559,PLE - polymorphic light eruption | Photodermatitis due to sun | Polymorphic light eruption | Polymorphic light eruption (disorder) | Polymorphic photodermatitis | Polymorphous light eruption | Polymorphous light eruption (disorder) | Pruritus aestivalis | Pruritus estivalis | polymorphic light eruption
BMGC_DS01997,BMG_DS002560,Photosensitivity Disorders | photosensitivity disease
BMGC_DS01998,BMG_DS002562,pica disease
BMGC_DS01999,BMG_DS002563,"Pericarditis, Constrictive | Pick Disease of Heart"
BMGC_DS02000,BMG_DS002564,Obesity Hypoventilation Syndrome | obesity-hypoventilation syndrome
BMGC_DS02001,BMG_DS002566,Aspergillosis | Coccidioidomycosis | Histoplasmosis | Mycoses - other | Other mycoses | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Piedra | Piedra (disorder) | Sporotrichosis | black piedra | piedra | superficial mycosis | white piedra
BMGC_DS02002,BMG_DS002567,Weissenbacher-Zweymuller syndrome | isolated Pierre-Robin syndrome
BMGC_DS02003,BMG_DS002569,pilonidal sinus
BMGC_DS02004,BMG_DS002570,pineal gland cancer
BMGC_DS02005,BMG_DS002571,Azul | Carate | Infection by Treponema carateum | Mal del pinto | Pinta | Pinta (disorder) | pinta disease
BMGC_DS02006,BMG_DS002572,pituitary adenoma | pituitary gland adenoma
BMGC_DS02007,BMG_DS002573,Pituitary Apoplexy | pituitary apoplexy
BMGC_DS02008,BMG_DS002574,Pituitary Diseases | pituitary gland disorder
BMGC_DS02009,BMG_DS002575,pituitary cancer | pituitary tumor
BMGC_DS02010,BMG_DS002576,Pityriasis | Pityriasis (disorder) | obsolete pityriasis
BMGC_DS02011,BMG_DS002577,Pityriasis Rosea | pityriasis rosea
BMGC_DS02012,BMG_DS002578,Pityriasis Rubra Pilaris | pityriasis rubra pilaris
BMGC_DS02013,BMG_DS002579,placenta accreta
BMGC_DS02014,BMG_DS002580,placenta disease | placenta disorder
BMGC_DS02015,BMG_DS002581,placenta praevia
BMGC_DS02016,BMG_DS002582,Placental Insufficiency | placental insufficiency
BMGC_DS02017,BMG_DS002584,Black death | Infection by Yersinia pestis | Pest | Pestilential fever | Plague | Plague (disorder) | plague
BMGC_DS02018,BMG_DS002587,plasmacytoma
BMGC_DS02019,BMG_DS002588,Platelet Storage Pool Deficiency | platelet storage pool deficiency
BMGC_DS02020,BMG_DS002589,Pleural Diseases | pleural disease | pleural disorder
BMGC_DS02021,BMG_DS002590,pleural cancer | pleural neoplasm
BMGC_DS02022,BMG_DS002591,(Pleurisy) or (adhesions - pleural) | (Pleurisy) or (adhesions - pleural) (disorder) | Adhesions - pleural | Pleurisy | Pleurisy (disorder) | Pleuritis | pleurisy
BMGC_DS02023,BMG_DS002592,"Pleurodynia, Epidemic | epidemic pleurodynia"
BMGC_DS02024,BMG_DS002593,Pleurobronchopneumonia | Pleurobronchopneumonia (disorder) | Pleuropneumonia | pleuropneumonia
BMGC_DS02025,BMG_DS002596,Pneumatosis Cystoides Intestinalis | pneumatosis cystoides intestinalis
BMGC_DS02026,BMG_DS002598,Pneumococcal Infections | pneumococcal infection
BMGC_DS02027,BMG_DS002599,Lung disease due to external agents | Lung disease: [pneumoconioses] or [occupational] or [due to external agents] | Lung disease: [pneumoconioses] or [occupational] or [due to external agents] (disorder) | Occupational lung disease | PK - Pneumoconiosis | Pneumoconioses | Pneumoconiosis | Pneumoconiosis (disorder) | pneumoconiosis
BMGC_DS02028,BMG_DS002601,Pneumonia | Pneumonia (disorder) | Pneumonia and influenza | Pneumonia and influenza &/or pneumonia | Pneumonia and influenza &/or pneumonia (disorder) | pneumonia
BMGC_DS02029,BMG_DS002603,"Aspiration Pneumonia | Pneumonia, Aspiration | aspiration pneumonia | aspiration pneumonitis"
BMGC_DS02030,BMG_DS002605,"Pneumonia, Lipid | lipid pneumonia"
BMGC_DS02031,BMG_DS002606,Lobar Pneumonia | Pneumonia
BMGC_DS02032,BMG_DS002607,Eaton's agent pneumonia | Endemic pneumonia | Mycoplasma pneumonia | Mycoplasma pneumoniae pneumonia | Mycoplasmal pneumonia | Pneumonia caused by Mycoplasma pneumoniae | Pneumonia caused by Mycoplasma pneumoniae (disorder) | Primary atypical pneumonia caused by Mycoplasma pneumoniae
BMGC_DS02033,BMG_DS002610,"Pneumonia, Staphylococcal | Staphylococcal Pneumonia | staphylococcal pneumonia"
BMGC_DS02034,BMG_DS002611,"Pneumonia, Viral | viral pneumonia"
BMGC_DS02035,BMG_DS002612,Pneumopericardium | Pneumopericardium (disorder)
BMGC_DS02036,BMG_DS002614,Pneumothorax | Pneumothorax (disorder) | pneumothorax
BMGC_DS02037,BMG_DS002615,Poikiloderma congenitale | Poikiloderma congenitale syndrome | Rothmund-Thomson syndrome | Rothmund-Thomson syndrome (disorder)
BMGC_DS02038,BMG_DS002616,"Dermatitis, Toxicodendron | toxicodendron dermatitis"
BMGC_DS02039,BMG_DS002617,Poland Syndrome | Poland syndrome
BMGC_DS02040,BMG_DS002618,Acute poliomyelitis | Acute poliomyelitis (disorder) | Anterior acute poliomyelitis | Epidemic acute poliomyelitis | Infantile paralysis | PM - Poliomyelitis | Polio | Poliomyelitis | Poliomyelitis (disorder) | poliomyelitis
BMGC_DS02041,BMG_DS002620,"Polychondritis, Relapsing | relapsing polychondritis"
BMGC_DS02042,BMG_DS002621,Polycystic Ovary Syndrome | polycystic ovary syndrome
BMGC_DS02043,BMG_DS002622,Erythrocytosis | Erythrocytosis (disorder) | Polycythaemia | Polycythemia | polycythemia
BMGC_DS02044,BMG_DS002623,acquired polycythemia vera | polycythemia vera
BMGC_DS02045,BMG_DS002624,"(Polymenorrhea) or (epimenorrhea) or (frequent periods) | (Polymenorrhoea) or (epimenorrhoea) or (frequent periods) | (Polymenorrhoea) or (epimenorrhoea) or (frequent periods) (disorder) | (Polymenorrhoea) or (epimenorrhoea) or (frequent periods) (finding) | Abnormally frequent menstruation | Epimenorrhea | Epimenorrhoea | Frequent periods | Menstrual cycle bleeding disorders, unspecified | Menstruation Disturbances | Polymenorrhea | Polymenorrhea (finding) | Polymenorrhoea | Unusually frequent menses"
BMGC_DS02046,BMG_DS002625,Polymyalgia Rheumatica | polymyalgia rheumatica
BMGC_DS02047,BMG_DS002626,Inflammatory polyneuropathy | Neuritis | Polyneuritis | Polyneuritis (disorder) | polyneuritis
BMGC_DS02048,BMG_DS002628,polyploidy
BMGC_DS02049,BMG_DS002629,classic familial adenomatous polyposis | familial adenomatous polyposis
BMGC_DS02050,BMG_DS002630,polyp
BMGC_DS02051,BMG_DS002631,Polyradiculopathy | Polyradiculopathy (disorder) | polyradiculopathy
BMGC_DS02052,BMG_DS002632,Polyradiculoneuropathy | Polyradiculoneuropathy (disorder) | polyradiculoneuropathy
BMGC_DS02053,BMG_DS002633,Cheiropodopompholyx | Dyshidria | Dyshidrotic dermatitis | Dyshidrotic eczema | Pompholyx | Pompholyx eczema | Vesicular eczema of hands and feet | Vesicular eczema of hands and/or feet | Vesicular eczema of hands and/or feet (disorder) | dyshidrosis | pompholyx
BMGC_DS02054,BMG_DS002634,popliteal cyst
BMGC_DS02055,BMG_DS002636,porphyria | porphyrin metabolism disease
BMGC_DS02056,BMG_DS002639,Postgastrectomy Syndromes | postgastrectomy syndrome
BMGC_DS02057,BMG_DS002640,(Herpes zoster with other CNS complication) or (postherpetic neuralgia) | (Herpes zoster with other CNS complication) or (postherpetic neuralgia) (disorder) | Herpes zoster with other central nervous system complication | PHN - Post-herpetic neuralgia | Post-zoster neuralgia | Postherpetic neuralgia | Postherpetic neuralgia (disorder) | postherpetic neuralgia
BMGC_DS02058,BMG_DS002643,Postphlebitic Syndrome | post-thrombotic syndrome
BMGC_DS02059,BMG_DS002649,(Multiple system congenital anomalies NEC) or (Prader-Willi syndrome) or (Noonan's syndrome) | (Multiple system congenital anomalies NEC) or (Prader-Willi syndrome) or (Noonan's syndrome) (disorder) | Multiple system congenital anomalies NEC | Noonan's syndrome | Prader - Willi syndrome | Prader-Willi Syndrome | Prader-Willi syndrome
BMGC_DS02060,BMG_DS002650,pre-eclampsia | preeclampsia
BMGC_DS02061,BMG_DS002654,placenta disease
BMGC_DS02062,BMG_DS002655,"Pregnancy Complications, Cardiovascular"
BMGC_DS02063,BMG_DS002656,"Pregnancy Complications, Hematologic"
BMGC_DS02064,BMG_DS002657,"Pregnancy Complications, Infectious"
BMGC_DS02065,BMG_DS002660,ectopic pregnancy
BMGC_DS02066,BMG_DS002663,Atrial Premature Complexes
BMGC_DS02067,BMG_DS002664,premature ejaculation
BMGC_DS02068,BMG_DS002667,Presbyopia | Presbyopia (disorder) | presbyopia
BMGC_DS02069,BMG_DS002669,(Priapism) or (erection - painful) | (Priapism) or (erection - painful) (disorder) | Erection - painful | Mentulagra | Painful erection | Pathologic erection | Priapism | Priapism (disorder) | priapism
BMGC_DS02070,BMG_DS002671,"Cerebellar Degenerations, Primary | Spinocerebellar Degenerations | primary cerebellar degeneration"
BMGC_DS02071,BMG_DS002672,Primary Insomnia | Sleep Initiation and Maintenance Disorders
BMGC_DS02072,BMG_DS002673,"Cardiomyopathies | Cardiomyopathies, Primary | cardiomyopathy | idiopathic cardiomyopathy"
BMGC_DS02073,BMG_DS002674,(GIT disorders NOS) or (kraurosis of anus) or (proctitis) or (rectal irritation) or (stercoral ulcer) | (GIT disorders NOS) or (kraurosis of anus) or (proctitis) or (rectal irritation) or (stercoral ulcer) (disorder) | Anus - kraurosis | GIT disorders NOS | Gastrointestinal tract disorders NOS | Irritation - rectum | Kraurosis ani | Kraurosis of anus | Proctitis | Proctitis (disorder) | Rectal irritation | Ulcer - stercoral | proctitis
BMGC_DS02074,BMG_DS002678,"Adult premature ageing syndrome | Adult premature aging syndrome | Endocrine diseases, unspecified | Hutchinson-Gilford progeria syndrome | Hutchinson-Gilford syndrome | Hutchinson-Gilford syndrome (disorder) | Premature ageing syndrome | Premature aging syndrome | Premature senility syndrome | Progeria | Progeria (disorder) | Progeria syndrome | progeria"
BMGC_DS02075,BMG_DS002680,prolactin-producing pituitary gland adenoma | prolactinoma
BMGC_DS02076,BMG_DS002682,Prostatic Diseases | prostate disease | prostate disorder
BMGC_DS02077,BMG_DS002683,prostate cancer | prostate neoplasm
BMGC_DS02078,BMG_DS002685,prostatitis
BMGC_DS02079,BMG_DS002686,Prosthesis Failure | Prosthesis Loosening
BMGC_DS02080,BMG_DS002687,Protein Deficiency
BMGC_DS02081,BMG_DS002688,protein-energy malnutrition
BMGC_DS02082,BMG_DS002689,Protein-Losing Enteropathies | protein-losing enteropathy
BMGC_DS02083,BMG_DS002690,proteinuria
BMGC_DS02084,BMG_DS002691,Proteus Infections | Proteus infectious disease
BMGC_DS02085,BMG_DS002693,Protozoan Infections | parasitic protozoa infectious disease | protozoa infectious disease
BMGC_DS02086,BMG_DS002695,Prune Belly Syndrome | prune belly syndrome
BMGC_DS02087,BMG_DS002698,"Mucolipidoses | Pseudo-Hurler Polydystrophy | mucolipidosis type III, alpha/beta"
BMGC_DS02088,BMG_DS002699,Pseudobulbar Palsy | pseudobulbar palsy
BMGC_DS02089,BMG_DS002701,(Crystal: [arthropathies] or [arthritis] or [synovitis]) or (chondrocalcinosis) or (pseudogout) | (Crystal: [arthropathies] or [arthritis] or [synovitis]) or (chondrocalcinosis) or (pseudogout) (disorder) | (Musculoskeletal NOS: [disease] or [disorder]) or (chondrocalcinosis) or (pseudogout) | (Musculoskeletal NOS: [disease] or [disorder]) or (chondrocalcinosis) or (pseudogout) (disorder) | Chondrocalcinosis | Crystal arthritis | Crystal arthropathies | Crystal synovitis | Musculo-skeletal disorder NOS | Musculoskeletal disease NOS | Pseudogout | Pyrophosphate arthritis | Pyrophosphate arthritis (disorder) | chondrocalcinosis
BMGC_DS02090,BMG_DS002702,pseudohermaphroditism
BMGC_DS02091,BMG_DS002703,Pseudohypoadrenocorticalism | Pseudohypoaldosteronism | Pseudohypoaldosteronism (disorder) | pseudohypoaldosteronism
BMGC_DS02092,BMG_DS002704,(Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) (disorder) | Constitutional chronic hypocalcaemia | Constitutional chronic hypocalcemia | Familial pseudohypoparathyroidism | Parathyroid hormone resistant hypoparathyroidism | Pseudohypoparathyroidism | Pseudohypoparathyroidism (disorder) | Pseudopseudohypoparathyroidism | pseudohypoparathyroidism
BMGC_DS02093,BMG_DS002705,Pseudomonas Infections | Pseudomonas infection
BMGC_DS02094,BMG_DS002706,pseudomyxoma peritonei
BMGC_DS02095,BMG_DS002707,(Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) (disorder) | Normocalcaemic pseudohypoparathyroidism | Normocalcemic pseudohypoparathyroidism | Normocalcemic pseudohypoparathyroidism (disorder) | Pseudohypoparathyroidism | Pseudopseudohypoparathyroidism | Pseudopseudohypoparathyroidism (disorder) | pseudopseudohypoparathyroidism
BMGC_DS02096,BMG_DS002708,Kimura Disease | Kimura disease
BMGC_DS02097,BMG_DS002710,Pseudotumor Cerebri | pseudotumor cerebri
BMGC_DS02098,BMG_DS002711,Pseudoxanthoma Elasticum | pseudoxanthoma elasticum | pseudoxanthoma elasticum (inherited or acquired)
BMGC_DS02099,BMG_DS002712,Psoriasis | Psoriasis (disorder) | psoriasis
BMGC_DS02100,BMG_DS002713,Tension Headache | Tension-Type Headache
BMGC_DS02101,BMG_DS002714,alcoholic psychosis
BMGC_DS02102,BMG_DS002715,drug psychosis
BMGC_DS02103,BMG_DS002717,inhibited female orgasm
BMGC_DS02104,BMG_DS002718,inhibited male orgasm | male orgasm disorder
BMGC_DS02105,BMG_DS002719,psychosexual disorder
BMGC_DS02106,BMG_DS002721,psychotic disorder
BMGC_DS02107,BMG_DS002722,pterygium
BMGC_DS02108,BMG_DS002723,"Precocious Puberty | Puberty, Precocious | precocious puberty"
BMGC_DS02109,BMG_DS002724,Puerperal Disorders | puerperal disorder
BMGC_DS02110,BMG_DS002725,Puerperal Infection | puerperal infection
BMGC_DS02111,BMG_DS002727,Pulmonary Alveolar Proteinosis | pulmonary alveolar proteinosis
BMGC_DS02112,BMG_DS002728,pulmonary edema
BMGC_DS02113,BMG_DS002729,pulmonary embolism
BMGC_DS02114,BMG_DS002730,Pulmonary embolism with infarction | Pulmonary embolism with pulmonary infarction | Pulmonary embolism with pulmonary infarction (disorder) | pulmonary embolism and infarction
BMGC_DS02115,BMG_DS002731,Pulmonary Emphysema | pulmonary emphysema
BMGC_DS02116,BMG_DS002732,Pulmonary Eosinophilia | pulmonary eosinophilia
BMGC_DS02117,BMG_DS002733,Pulmonary Fibrosis | pulmonary fibrosis
BMGC_DS02118,BMG_DS002734,Cor pulmonale | Cor pulmonale (disorder) | Pulmonary heart disease | Right heart failure due to pulmonary hypertension | cor pulmonale
BMGC_DS02119,BMG_DS002735,Pulmonary Infarction | pulmonary embolism and infarction
BMGC_DS02120,BMG_DS002736,pulmonary subvalvular stenosis
BMGC_DS02121,BMG_DS002737,pulmonary valve disease | pulmonary valve disorder
BMGC_DS02122,BMG_DS002738,pulmonary valve insufficiency
BMGC_DS02123,BMG_DS002739,Pulmonary Valve Stenosis | pulmonary valve stenosis | valvar pulmonary stenosis
BMGC_DS02124,BMG_DS002740,pulmonary venoocclusive disease
BMGC_DS02125,BMG_DS002741,Pulp degeneration | Pulp degeneration (disorder) | pulp degeneration
BMGC_DS02126,BMG_DS002742,Pulpitis | Pulpitis (disorder) | pulpitis
BMGC_DS02127,BMG_DS002743,Pupil Disorders | pupil disease | pupil disorder
BMGC_DS02128,BMG_DS002744,"Purine-Pyrimidine Metabolism, Inborn Errors | inborn disorder of purine or pyrimidine metabolism"
BMGC_DS02129,BMG_DS002745,(Purpura/haemorrhagic condition) or (purpura) or (thrombocytopenic purpura) | (Purpura/haemorrhagic condition) or (purpura) or (thrombocytopenic purpura) (disorder) | (Purpura/hemorrhagic condition) or (purpura) or (thrombocytopenic purpura) | Disorder characterised by purpura | Disorder characterized by purpura | Purpura | Purpura (disorder) | Purpura (morphologic abnormality) | Purpura simplex (disorder) | Purpura/haemorrhagic condition | Purpura/hemorrhagic condition | Purpuric disorder | Purpuric disorder (disorder) | Simple bruising | Thrombocytopenic purp. | Thrombocytopenic purpura | purpura
BMGC_DS02130,BMG_DS002746,"Purpura, Hyperglobulinemic | hyperglobulinemic purpura"
BMGC_DS02131,BMG_DS002747,Henoch-Schoenlein Purpura | Henoch-Schoenlein purpura | IgA Vasculitis | immunoglobulin A vasculitis
BMGC_DS02132,BMG_DS002748,"Purpura, Thrombotic Thrombocytopenic | thrombotic thrombocytopenic purpura"
BMGC_DS02133,BMG_DS002749,Pyelitis | Pyelitis (disorder) | pyelitis
BMGC_DS02134,BMG_DS002751,Pyelonephritis | Pyelonephritis (disorder) | pyelonephritis
BMGC_DS02135,BMG_DS002752,"Pyelonephritis, Xanthogranulomatous | xanthogranulomatous pyelonephritis"
BMGC_DS02136,BMG_DS002754,pyloric stenosis
BMGC_DS02137,BMG_DS002755,"(Skin infection, localised NOS) or (pyoderma) or (pyogenic granuloma) | (Skin infection, localised NOS) or (pyoderma) or (pyogenic granuloma) (disorder) | (Skin infection, localized NOS) or (pyoderma) or (pyogenic granuloma) | Purulent dermatitis | Pustuloderma | Pyoderma | Pyoderma (disorder) | Pyoderma gangrenosum | Pyodermia | Pyogenic dermatitis | Pyogenic granuloma | Pyogenic infection of skin and subcutis | Septic dermatitis | Skin infection, localised NOS | Skin infection, localized NOS | Suppurative dermatitis | pyoderma"
BMGC_DS02138,BMG_DS002759,"(Pelvic inflammatory disease: [NOS] or [chronic]) or (pyosalpinx) | (Pelvic inflammatory disease: [NOS] or [chronic]) or (pyosalpinx) (disorder) | Abscess of fallopian tube | Abscess of fallopian tube (disorder) | Chronic pelvic inflammatory disease | Fallopian tube abscess | Pelvic inflam disease,chronic | Pelvic inflam. disease NOS | Pelvic inflammatory disease NOS | Pyosalpingitis | Pyosalpingitis (disorder) | Pyosalpinx | Pyosalpinx (disorder) | pyosalpinx"
BMGC_DS02139,BMG_DS002760,(Renal disease NOS) or (pyoureter) | (Renal disease NOS) or (pyoureter) (disorder) | Pyoureter | Pyoureter (disorder) | Renal disease NOS | pyoureter
BMGC_DS02140,BMG_DS002761,Pyruvate Carboxylase Deficiency Disease | pyruvate carboxylase deficiency disease
BMGC_DS02141,BMG_DS002762,Pyruvate Dehydrogenase Complex Deficiency Disease | pyruvate decarboxylase deficiency | pyruvate dehydrogenase deficiency
BMGC_DS02142,BMG_DS002763,"Pyruvate Metabolism, Inborn Errors"
BMGC_DS02143,BMG_DS002764,pyuria
BMGC_DS02144,BMG_DS002765,Q Fever | Q fever
BMGC_DS02145,BMG_DS002766,"Quadriplegia | Quadriplegia (disorder) | Tetraplegia | Tetraplegia, unspecified | quadriplegia"
BMGC_DS02146,BMG_DS002767,Hydrophobia | Lyssa | Rabies | Rabies (disorder) | rabies
BMGC_DS02147,BMG_DS002768,Radiation Injuries | Radiation Syndrome | radiation injury
BMGC_DS02148,BMG_DS002769,Radiculitis | Radiculitis (disorder) | Radiculopathy | radiculitis
BMGC_DS02149,BMG_DS002770,Radiation-Induced Dermatitis | Radiodermatitis | radiodermatitis
BMGC_DS02150,BMG_DS002772,Rat-Bite Fever | rat-bite fever
BMGC_DS02151,BMG_DS002773,Raynaud Disease | Raynaud disease
BMGC_DS02152,BMG_DS002774,Raynaud Disease | Raynaud Phenomenon
BMGC_DS02153,BMG_DS002776,Rectal Diseases | rectal disease | rectal disorder
BMGC_DS02154,BMG_DS002777,rectal benign neoplasm | rectal neoplasm
BMGC_DS02155,BMG_DS002779,Rectal Prolapse | rectal prolapse
BMGC_DS02156,BMG_DS002780,"Pure Red-Cell Aplasia | Red-Cell Aplasia, Pure | pure red-cell aplasia"
BMGC_DS02157,BMG_DS002782,Reflex Sympathetic Dystrophy | complex regional pain syndrome type 1 | reflex sympathetic dystrophy
BMGC_DS02158,BMG_DS002783,Refractive Errors | refractive error
BMGC_DS02159,BMG_DS002784,Refsum Disease | Refsum disease | adult Refsum disease
BMGC_DS02160,BMG_DS002785,"Arthritis, Reactive | Reiter Syndrome | reactive arthritis"
BMGC_DS02161,BMG_DS002786,Relapsing Fever | relapsing fever
BMGC_DS02162,BMG_DS002787,Tick-borne relapsing fever | Tick-borne relapsing fever (disorder) | Tickborne relapsing fever | tick-borne relapsing fever
BMGC_DS02163,BMG_DS002788,Renal Artery Obstruction | renal artery obstruction
BMGC_DS02164,BMG_DS002789,Renal Artery Obstruction | Renal Artery Stenosis
BMGC_DS02165,BMG_DS002790,Kidney Failure | Renal Insufficiency | kidney failure
BMGC_DS02166,BMG_DS002792,Chronic Kidney Disease-Mineral and Bone Disorder | Renal Osteodystrophy | renal osteodystrophy
BMGC_DS02167,BMG_DS002793,"Renal Tubular Transport, Inborn Errors | renal tubular transport disease"
BMGC_DS02168,BMG_DS002796,Respiration Disorders | respiratory system disorder
BMGC_DS02169,BMG_DS002797,"Respiratory Distress Syndrome, Newborn | congenital alveolar dysplasia"
BMGC_DS02170,BMG_DS002798,"Respiratory Distress Syndrome | Respiratory Distress Syndrome, Adult | adult acute respiratory distress syndrome | adult respiratory distress syndrome"
BMGC_DS02171,BMG_DS002800,Respiratory Syncytial Virus Infections | respiratory syncytial virus infectious disease
BMGC_DS02172,BMG_DS002801,Respiratory Tract Diseases
BMGC_DS02173,BMG_DS002802,Respiratory Tract Infections | respiratory tract infectious disorder
BMGC_DS02174,BMG_DS002804,Restless Legs Syndrome | restless legs syndrome
BMGC_DS02175,BMG_DS002806,"histoplasmosis | reticuloendotheliosis, X-linked"
BMGC_DS02176,BMG_DS002807,reticulohistiocytic granuloma
BMGC_DS02177,BMG_DS002808,Retinal Artery Occlusion | retinal artery occlusion
BMGC_DS02178,BMG_DS002809,retinal degeneration
BMGC_DS02179,BMG_DS002810,Retinal Detachment | retinal detachment
BMGC_DS02180,BMG_DS002811,Retinal Diseases | retinal disease | retinal disorder
BMGC_DS02181,BMG_DS002812,Retinal Drusen | retinal drusen
BMGC_DS02182,BMG_DS002813,"Retinal Necrosis Syndrome, Acute | acute retinal necrosis syndrome"
BMGC_DS02183,BMG_DS002814,Retinal Perforations | retinal perforation
BMGC_DS02184,BMG_DS002815,(Retinal vascular occlusion) or (amaurosis fugax) or (retinal thrombosis) | (Retinal vascular occlusion) or (amaurosis fugax) or (retinal thrombosis) (disorder) | Amaurosis fugax | Retinal thrombosis | Retinal vasc. occlusion | Retinal vascular occlusion | Retinal vascular occlusion (disorder) | retinal vascular occlusion
BMGC_DS02185,BMG_DS002816,Retinal Vein Occlusion | retinal vein occlusion
BMGC_DS02186,BMG_DS002817,Retinitis | Retinitis (disorder) | Retinopathy | retinitis
BMGC_DS02187,BMG_DS002818,Retinitis Pigmentosa | retinitis pigmentosa
BMGC_DS02188,BMG_DS002819,retinoblastoma
BMGC_DS02189,BMG_DS002820,Retinopathy of Prematurity | retinopathy of prematurity
BMGC_DS02190,BMG_DS002821,Retrocochlear Diseases | retrocochlear disease
BMGC_DS02191,BMG_DS002822,(Ureter obstruction &/or stricture) or (retroperitoneal fibrosis) | (Ureter obstruction &/or stricture) or (retroperitoneal fibrosis) (disorder) | IgG4-related retroperitoneal fibrosis | Ormond's disease | RPF - Retroperitoneal fibrosis | Retroperitoneal fibrosis | Retroperitoneal fibrosis (disorder) | Sclerosing retroperitonitis | Stricture - ureter | Stricture of ureter | Ureter - stricture | Ureter stricture/obstruction
BMGC_DS02192,BMG_DS002823,retroperitoneal cancer | retroperitoneal neoplasm
BMGC_DS02193,BMG_DS002825,Rett Syndrome | Rett syndrome
BMGC_DS02194,BMG_DS002826,Reye Syndrome | Reye syndrome
BMGC_DS02195,BMG_DS002827,Rh Isoimmunization | Rh isoimmunization
BMGC_DS02196,BMG_DS002829,rhabdomyosarcoma
BMGC_DS02197,BMG_DS002830,Locomotor pain disorder | Musculoskeletal pain disorder | NAR - Non-articular rheumatism | Non-articular rheumatism | Rheumatic Diseases | Rheumatism | Rheumatism (disorder) | Soft tissue rheumatism
BMGC_DS02198,BMG_DS002831,Rheumatic Fever | rheumatic fever
BMGC_DS02199,BMG_DS002832,Rheumatic Heart Disease | rheumatic heart disease
BMGC_DS02200,BMG_DS002833,Active rheumatic fever with heart involvement | Acute rheumatic fever with heart disease | Acute rheumatic fever with heart disease (disorder) | Acute rheumatic fever with heart involvement | Acute rheumatic heart disease | Acute rheumatic heart disease (disorder) | acute rheumatic heart disease | rheumatic myocarditis
BMGC_DS02201,BMG_DS002836,Irritation of nose | Rhinitis | Rhinitis (disorder) | rhinitis
BMGC_DS02202,BMG_DS002837,"Rhinitis, Allergic, Perennial | perennial allergic rhinitis"
BMGC_DS02203,BMG_DS002838,"Rhinitis, Atrophic | atrophic rhinitis"
BMGC_DS02204,BMG_DS002839,"Rhinitis, Vasomotor | vasomotor rhinitis"
BMGC_DS02205,BMG_DS002841,Infection by Klebsiella rhinoscleromatis | Rhinoscleroma | Rhinoscleroma (disorder) | Scleroma | rhinoscleroma
BMGC_DS02206,BMG_DS002843,Riboflavin Deficiency | riboflavin deficiency
BMGC_DS02207,BMG_DS002844,(Vitamin D deficiency) or (osteomalacia) or (rickets) | (Vitamin D deficiency) or (osteomalacia) or (rickets) (disorder) | Osteomalacia | Rickets | Rickets (disorder) | Vitamin D deficiency | rickets
BMGC_DS02208,BMG_DS002845,Rickettsia Infections | Rickettsiosis
BMGC_DS02209,BMG_DS002847,Kew Gardens spotted fever | Rickettsialpox | Rickettsialpox (disorder) | Rickettsialpox due to Rickettsia akari | Spotted Fever Group Rickettsiosis | Vesicular rickettsiosis | rickettsialpox
BMGC_DS02210,BMG_DS002848,Rift Valley Fever | Rift Valley fever | Rift valley fever
BMGC_DS02211,BMG_DS002849,right aortic arch
BMGC_DS02212,BMG_DS002852,ring chromosome syndrome
BMGC_DS02213,BMG_DS002854,Rocky Mountain Spotted Fever | Rocky Mountain spotted fever | Rocky mountain spotted fever
BMGC_DS02214,BMG_DS002855,Rodent Diseases | rodent disease
BMGC_DS02215,BMG_DS002856,Root Resorption | root resorption
BMGC_DS02216,BMG_DS002857,(Acne roscea) or (acne rosacea) or (rhinophyma) or (rosacea) | (Acne roscea) or (acne rosacea) or (rhinophyma) or (rosacea) (disorder) | Acne erythematosa | Acne rosacea | Acne rosacea (disorder) | Acne roscea | Rhinophyma | Rosacea | Rosacea (disorder) | rosacea
BMGC_DS02217,BMG_DS002858,Rotavirus Infections | Rotavirus infection
BMGC_DS02218,BMG_DS002859,(Rubella [& German measles]) or (Roseola) | (Rubella [& German measles]) or (Roseola) (disorder) | German measles | Roseola | Rubella | Rubella (disorder) | rubella
BMGC_DS02219,BMG_DS002861,Rubinstein-Taybi Syndrome | Rubinstein-Taybi syndrome
BMGC_DS02220,BMG_DS002862,Saldino-Noonan Syndrome | Short Rib-Polydactyly Syndrome | asphyxiating thoracic dystrophy 3
BMGC_DS02221,BMG_DS002864,Calculus of salivary gland | Salivary Gland Calculi | Salivary calculus | Salivary stone | Sialolith | Sialolithiasis | Sialolithiasis (disorder) | Stone of salivary gland | sialolithiasis
BMGC_DS02222,BMG_DS002865,Salivary Gland Diseases
BMGC_DS02223,BMG_DS002866,tumor of salivary gland
BMGC_DS02224,BMG_DS002867,Enteric paratyphosis | Salmonella food poisoning | Salmonella food poisoning (disorder) | Salmonella gastroenteritis | Salmonella gastroenteritis (disorder) | Salmonellosis | Salmonellosis (& [gastroenteritis] or [food poisoning]) | Salmonellosis (& [gastroenteritis] or [food poisoning]) (disorder)
BMGC_DS02225,BMG_DS002868,salmonellosis
BMGC_DS02226,BMG_DS002869,"Salmonella Infections, Animal | salmonella infections, animal"
BMGC_DS02227,BMG_DS002870,Chronic pelvic inflam. dis.NOS | Inflam. dis.- pelvic | Inflammation of fallopian tube | Oophoritis | Pelvic inflammatory disease | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) (disorder) | Salpingitis | Salpingitis (disorder) | salpingitis
BMGC_DS02228,BMG_DS002871,Inflammation of ovary and fallopian tube | Salpingitis and oophoritis | Salpingo-oophoritis | Tubo-ovarian inflammatory disease | Tubo-ovarian inflammatory disease (disorder) | salpingo-oophoritis
BMGC_DS02229,BMG_DS002872,Sandhoff Disease | Sandhoff disease
BMGC_DS02230,BMG_DS002873,Benign lymphogranulomatosis of Schaumann | Besnier-Boeck-Schaumann syndrome | Boeck's sarcoid | Boeck's sarcoidosis | Darier-Roussy sarcoid | Lupus pernio of Besnier | Miliary lupoid of Boeck | Sarcoidosis | Sarcoidosis (disorder) | sarcoidosis
BMGC_DS02231,BMG_DS002874,Cutaneous sarcoidosis | Cutaneous sarcoidosis (disorder) | Sarcoidosis of skin | Skin sarcoidosis | skin sarcoidosis
BMGC_DS02232,BMG_DS002876,"Sarcoidosis, Pulmonary | pulmonary sarcoidosis"
BMGC_DS02233,BMG_DS002880,Kaposi's sarcoma
BMGC_DS02234,BMG_DS002881,mast cell sarcoma | mast-cell sarcoma
BMGC_DS02235,BMG_DS002882,"Protozoal intestinal infections, unspecified | Sarcocystiosis | Sarcocystosis | Sarcosporidiasis | Sarcosporidiosis | Sarcosporidiosis (disorder) | sarcocystosis"
BMGC_DS02236,BMG_DS002883,scabies
BMGC_DS02237,BMG_DS002884,Scalp Dermatoses | scalp dermatosis
BMGC_DS02238,BMG_DS002886,Scarlet Fever | scarlet fever
BMGC_DS02239,BMG_DS002887,Pigmentation Disorders | Schamberg Disease | obsolete incontinentia pigmenti achromians
BMGC_DS02240,BMG_DS002888,Scheuermann Disease | Scheuermann disease | Scheuermann's Disease | Scheuermann's disease
BMGC_DS02241,BMG_DS002889,(Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) (disorder) | Bilharzia | Bilharziasis | Blood fluke infection | Filaria | Flukes | Haemic distomiasis | Hemic distomiasis | Infection by Schistosoma | Infection caused by Schistosoma | Infection caused by Schistosoma (disorder) | Other helminthiases | Oxyuriasis | Schistosomiasis | Schistosomiasis - bilharziasis | Schistosomosis | Taenia infestation | Tapeworms | Toxocara | Trichinosis | schistosomiasis
BMGC_DS02242,BMG_DS002890, | Schistosoma japonicum infectious disease | Schistosomiasis japonica | intestinal schistosomiasis
BMGC_DS02243,BMG_DS002891, | Schistosoma mansoni infectious disease | Schistosomiasis mansoni | intestinal schistosomiasis
BMGC_DS02244,BMG_DS002894,schizoaffective disorder
BMGC_DS02245,BMG_DS002895,schizoid personality disorder
BMGC_DS02246,BMG_DS002896,schizophrenia
BMGC_DS02247,BMG_DS002897,childhood-onset schizophrenia
BMGC_DS02248,BMG_DS002898,paranoid schizophrenia
BMGC_DS02249,BMG_DS002899,schizophreniform disorder
BMGC_DS02250,BMG_DS002900,schizotypal personality disorder
BMGC_DS02251,BMG_DS002901,Osteochondrodysplasias | Schwartz-Jampel Syndrome | Schwartz-Jampel syndrome
BMGC_DS02252,BMG_DS002903,Scimitar Syndrome | scimitar syndrome
BMGC_DS02253,BMG_DS002904,Scleral Diseases | scleral disease | scleral disorder
BMGC_DS02254,BMG_DS002905,Scleredema Adultorum | scleredema adultorum
BMGC_DS02255,BMG_DS002907,Episcleritis | Inflammation of white of eye | Scleritis | Scleritis &/or episcleritis | Scleritis &/or episcleritis (disorder) | Scleritis (disorder) | Scleritis and episcleritis | Scleritis/episcleritis | scleritis
BMGC_DS02256,BMG_DS002908,Addison's keloid | Circumscribed scleroderma | Localised dermatosclerosis | Localised morphoea | Localised scleroderma | Localized dermatosclerosis | Localized morphea | Localized morphea (disorder) | Localized scleroderma | Localized scleroderma (disorder) | Morphea scleroderma | Morphoea scleroderma | localized scleroderma
BMGC_DS02257,BMG_DS002909,"Scleroderma, Systemic | Systemic Scleroderma | systemic scleroderma | systemic sclerosis"
BMGC_DS02258,BMG_DS002910,"Scoliosis | Scoliosis, unspecified | scoliosis"
BMGC_DS02259,BMG_DS002911,scotoma
BMGC_DS02260,BMG_DS002912,Scrapie | Scrapie (disorder) | scrapie
BMGC_DS02261,BMG_DS002913,Screw Worm Infection | screw worm infectious disease
BMGC_DS02262,BMG_DS002915,Scrub Typhus | scrub typhus
BMGC_DS02263,BMG_DS002916,(Ascorbic acid (vitamin C) deficiency) or (scurvy) | (Ascorbic acid (vitamin C) deficiency) or (scurvy) (disorder) | Ascorbic acid (vitamin C) deficiency | Ascorbic acid defic. | Ascorbic acid deficiency | Ascorbic acid deficiency (& [scurvy]) | Ascorbic acid deficiency (& [scurvy]) (disorder) | Ascorbic acid deficiency (disorder) | Deficiency of ascorbic acid | Scurvy | Scurvy (disorder) | Vitamin C deficiency | scurvy
BMGC_DS02264,BMG_DS002917,Sea-Blue Histiocyte Syndrome | sea-blue histiocyte syndrome | sea-blue histiocytosis
BMGC_DS02265,BMG_DS002918,Motion Sickness | Motion sickness | Seasickness
BMGC_DS02266,BMG_DS002919,Sebaceous Gland Diseases | sebaceous gland disorder
BMGC_DS02267,BMG_DS002920,sebaceous gland neoplasm
BMGC_DS02268,BMG_DS002921,SBD - Seborrheic dermatitis | SBD - Seborrhoeic dermatitis | Seborrheic dermatitis | Seborrheic dermatitis (& capitis) | Seborrheic dermatitis (disorder) | Seborrheic dermatitis capitis | Seborrheic eczema | Seborrhoeic dermatitis | Seborrhoeic dermatitis (& capitis) | Seborrhoeic dermatitis (& capitis) (disorder) | Seborrhoeic dermatitis (disorder) | Seborrhoeic dermatitis capitis | Seborrhoeic eczema | seborrheic dermatitis
BMGC_DS02269,BMG_DS002922,"Cardiomyopathies | Myocardial Diseases, Secondary | cardiomyopathy"
BMGC_DS02270,BMG_DS002923,seminoma | testis seminoma
BMGC_DS02271,BMG_DS002924,senile cataract
BMGC_DS02272,BMG_DS002926,Sensation Disorders
BMGC_DS02273,BMG_DS002930,Sepsis | Septicaemia | Septicaemia (disorder) | Septicemia | Septicemia (disorder)
BMGC_DS02274,BMG_DS002932,Sertoli cell tumor
BMGC_DS02275,BMG_DS002933,Serum Sickness | serum sickness
BMGC_DS02276,BMG_DS002934,Setariasis | setariasis
BMGC_DS02277,BMG_DS002935,Sex Chromosome Aberrations
BMGC_DS02278,BMG_DS002936,disorder of sexual development
BMGC_DS02279,BMG_DS002942,Sezary syndrome | Sezary's disease
BMGC_DS02280,BMG_DS002945,cardiogenic shock
BMGC_DS02281,BMG_DS002946,Short Bowel Syndrome | short bowel syndrome
BMGC_DS02282,BMG_DS002947,Short Rib-Polydactyly Syndrome | short rib-polydactyly syndrome
BMGC_DS02283,BMG_DS002948,Shwartzman Phenomenon | Shwartzman phenomenon
BMGC_DS02284,BMG_DS002949,Shy-Drager Syndrome | multiple system atrophy
BMGC_DS02285,BMG_DS002950,Sialadenitis | Sialoadenitis | Sialoadenitis (disorder) | sialadenitis
BMGC_DS02286,BMG_DS002951,"Sialometaplasia, Necrotizing | necrotizing sialometaplasia"
BMGC_DS02287,BMG_DS002952,Excessive salivation | Excessive salivation (disorder) | Hyperactive salivary flow | Hypersalivation | Hypersecretion of saliva | Hypersecretion of salivary gland | Polysialia | Ptyalorrhea | Ptyalorrhoea | Salivary hypersecretion | Sialism | Sialismus | Sialorrhea | Sialorrhoea | Sialosis
BMGC_DS02288,BMG_DS002953,Sick Building Syndrome | sick building syndrome
BMGC_DS02289,BMG_DS002954,Sick Sinus Syndrome | sick sinus syndrome
BMGC_DS02290,BMG_DS002955,Sickle Cell Trait
BMGC_DS02291,BMG_DS002956,(Pneumoconiosis NOS) or (siderosis) | (Pneumoconiosis NOS) or (siderosis) (disorder) | Arc-welders' disease | Arc-welders' lung | Arc-welders' nodulation | Arc-welders' pneumoconiosis | Iron oxide lung | Iron pneumoconiosis | Pneumoconiosis NOS | Pneumoconiosis siderotico | Pulmonary siderosis | Pulmonary siderosis (disorder) | Siderosis | Siderotic lung disease | Silver polishers' lung | Steel grinders' disease | Welders' lung | Welders' siderosis | siderosis
BMGC_DS02292,BMG_DS002957,Sigmoid Diseases | sigmoid disease
BMGC_DS02293,BMG_DS002958,sigmoid neoplasm
BMGC_DS02294,BMG_DS002960,Nodular silicosis | Pneumoconiosis caused by silica | Pneumoconiosis caused by silica (disorder) | Silicatosis | Silicosis | Silicosis (disorder) | silicosis
BMGC_DS02295,BMG_DS002962,Silo Filler's Disease | Silo filler's disease | silo filler disease
BMGC_DS02296,BMG_DS002963,B Virus Infection | Herpesviridae Infections | Herpesviridae infectious disease
BMGC_DS02297,BMG_DS002965,"Genetic Diseases, Inborn | Single-Gene Defects"
BMGC_DS02298,BMG_DS002966,Sinoatrial Block | sinoatrial block
BMGC_DS02299,BMG_DS002967,"Sinus Thrombosis, Intracranial | intracranial sinus thrombosis"
BMGC_DS02300,BMG_DS002968,Acute sinusitis | Sinusitis | Sinusitis (& acute) | Sinusitis (& acute) (disorder) | Sinusitis (disorder) | sinusitis
BMGC_DS02301,BMG_DS002969,sirenomelia
BMGC_DS02302,BMG_DS002970,situs inversus
BMGC_DS02303,BMG_DS002971,Sjogren-Larsson Syndrome | Sjogren-Larsson syndrome
BMGC_DS02304,BMG_DS002973,skin disease | skin disorder
BMGC_DS02305,BMG_DS002974,"Skin Diseases, Vesiculobullous | vesiculobullous skin disease"
BMGC_DS02306,BMG_DS002975," | Skin Diseases, Genetic | hereditary skin disorder | skin disease"
BMGC_DS02307,BMG_DS002976,"Skin Diseases, Infectious | skin disorder caused by infection | skin infection"
BMGC_DS02308,BMG_DS002980,skin benign neoplasm | skin neoplasm
BMGC_DS02309,BMG_DS002981,skin tag
BMGC_DS02310,BMG_DS002982,Skin Ulcer
BMGC_DS02311,BMG_DS002983,skull cancer | skull neoplasm
BMGC_DS02312,BMG_DS002984,Sleep Apnea Syndromes | sleep apnea | sleep apnea syndrome
BMGC_DS02313,BMG_DS002986,(Viral exanthemata [& variants]) or (orf) or (milkers node) | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Cowpox | Fifth disease | Fourth disease | Milker's node | Milkers' node | Orf | Other viral exanthemata | Parascarlatina | Pseudocowpox | Roseola infantum | Smallpox | Smallpox (disorder) | Variola | Variola major | smallpox
BMGC_DS02314,BMG_DS002990,connective tissue benign neoplasm | soft tissue neoplasm
BMGC_DS02315,BMG_DS002992,solitary cyst of breast
BMGC_DS02316,BMG_DS002993,somatoform disorder
BMGC_DS02317,BMG_DS002994,somatostatinoma
BMGC_DS02318,BMG_DS002995,Insomnia | Nightmares | Sleep disorders | Sleep disorders (& [insomnia] or [nightmares] or [sleepwalking (& somnambulism)]) | Sleep disorders (& [insomnia] or [nightmares] or [sleepwalking (& somnambulism)]) (disorder) | Sleep walking | Sleep walking disorder | Sleep walking disorder (disorder) | Sleepwalking | Sleepwalking disorder | Somnambulism | Walking in sleep
BMGC_DS02319,BMG_DS002996,Infection by Spirometra larvae | Infection caused by Spirometra larvae | Infection caused by Spirometra larvae (disorder) | Larval dibothriocephaliasis | Larval diphyllobothriasis | Sparganosis | Sparganosis (disorder) | Sparganosis - larval diphyllobothriasis | Spirometriosis | Spirometrosis | sparganosis
BMGC_DS02320,BMG_DS002997,Spasmophilia | Tetany
BMGC_DS02321,BMG_DS002998,"Spasms, Infantile | West Syndrome | West syndrome"
BMGC_DS02322,BMG_DS002999,Paraplegia | Spastic Paraplegia
BMGC_DS02323,BMG_DS003000,"Spastic Paraplegia, Hereditary | hereditary spastic paraplegia"
BMGC_DS02324,BMG_DS003002,Speech Disorders | speech disorder
BMGC_DS02325,BMG_DS003003,Spermatic Cord Torsion | spermatic cord torsion
BMGC_DS02326,BMG_DS003004,Spermatic cyst | Spermatocele | Spermatocele (disorder) | spermatocele
BMGC_DS02327,BMG_DS003005,Sphenoid Sinusitis | sphenoid sinusitis
BMGC_DS02328,BMG_DS003007,Congenital spherocytic haemolytic anaemia | Congenital spherocytic hemolytic anemia | Congenital spherocytosis | Familial acholuric jaundice | Familial spherocytosis | HS - Hereditary spherocytosis | Hereditary spherocytosis | Hereditary spherocytosis (disorder) | Minkowsky-Chauffard syndrome | Other specified hereditary haemolytic anaemia | hereditary spherocytosis
BMGC_DS02329,BMG_DS003008,Sphingolipidoses | sphingolipidosis
BMGC_DS02330,BMG_DS003009,spina bifida cystica
BMGC_DS02331,BMG_DS003011,Compression of spinal cord | SCC - Spinal cord compression | Spinal cord compression | Spinal cord compression (disorder)
BMGC_DS02332,BMG_DS003012,Spinal Cord Diseases | spinal cord disease | spinal cord disorder
BMGC_DS02333,BMG_DS003013,spinal cancer | spinal cord neoplasm
BMGC_DS02334,BMG_DS003014,Spinal Diseases | vertebral column disorder
BMGC_DS02335,BMG_DS003015,spinal cancer
BMGC_DS02336,BMG_DS003018,Spinocerebellar Degeneration | Spinocerebellar Degenerations
BMGC_DS02337,BMG_DS003020,Splenic Diseases | splenic disease | splenic disorder
BMGC_DS02338,BMG_DS003021,Splenic Infarction | splenic infarction
BMGC_DS02339,BMG_DS003022,spleen cancer | spleen neoplasm
BMGC_DS02340,BMG_DS003023,Spondarthritis | Spondylitis | Spondylitis (disorder) | spondylitis
BMGC_DS02341,BMG_DS003024,AS - Ankylosing spondylitis | Ankylosing spondylitis | Ankylosing spondylitis (disorder) | Bekhterev's disease | Idiopathic ankylosing spondylitis | Marie Strümpell spondylitis | Marie-Strumpell spondylitis | Spondylosis deformans | ankylosing spondylitis
BMGC_DS02342,BMG_DS003025,Osteochondrodysplasias | Spondyloepiphyseal Dysplasia | spondyloepiphyseal dysplasia
BMGC_DS02343,BMG_DS003026,"(Spine anomaly - congenital) or (hemivertebra) or (Klippel-Feil syndrome) or (spina bifida occulta) or (spondylolisthesis) | (Spine anomaly - congenital) or (hemivertebra) or (Klippel-Feil syndrome) or (spina bifida occulta) or (spondylolisthesis) (disorder) | Bifida, spina - occulta | Hemivertebra | Klippel-Feil syndrome | Occulta - spina bifida | SPL - Spondylolisthesis | Spina bifida occulta | Spine anomaly - congenital | Spondylolisthesis | Spondylolisthesis (disorder) | Spondylolisthesis, unspecified | spondylolisthesis"
BMGC_DS02344,BMG_DS003027,"Spondylolysis | Spondylolysis (disorder) | Spondylolysis, unspecified | spondylolysis"
BMGC_DS02345,BMG_DS003028,Spondarthropathy | Spondylarthrosis | Spondylosis | Spondylosis (disorder) | spondylosis
BMGC_DS02346,BMG_DS003029,Spondylosis | Spondylosis Deformans
BMGC_DS02347,BMG_DS003031,Spotted Fever Group Rickettsiosis | spotted fever
BMGC_DS02348,BMG_DS003032,"Sprue, Tropical | tropical sprue"
BMGC_DS02349,BMG_DS003033,stutter disorder | stuttering
BMGC_DS02350,BMG_DS003034,Staphylococcal enterocolitis | Staphylococcal enterocolitis (disorder)
BMGC_DS02351,BMG_DS003036,Staphylococcal Infections | staphylococcal infection
BMGC_DS02352,BMG_DS003038,Staphylococcal Skin Infections
BMGC_DS02353,BMG_DS003039,Status Asthmaticus | status asthmaticus
BMGC_DS02354,BMG_DS003040,Status Epilepticus | status epilepticus
BMGC_DS02355,BMG_DS003042,steatorrhea
BMGC_DS02356,BMG_DS003044,stereotypic movement disorder
BMGC_DS02357,BMG_DS003045,Stevens-Johnson Syndrome | Stevens-Johnson syndrome
BMGC_DS02358,BMG_DS003046,Gastric Dilatation | gastric dilatation
BMGC_DS02359,BMG_DS003047,Stomach Diseases | stomach disease | stomach disorder
BMGC_DS02360,BMG_DS003048,gastric neoplasm | stomach cancer
BMGC_DS02361,BMG_DS003050,GU - Gastric peptic ulcer | GU - Gastric ulcer | Gastric peptic ulcer | Gastric ulcer | Gastric ulcer (& [prepyloric] or [pyloric]) | Gastric ulcer (& [prepyloric] or [pyloric]) (disorder) | Gastric ulcer (disorder) | Gastric ulcer - (GU) | Gastric ulceration | Peptic ulcer of stomach | Prepyloric ulcer | Pyloric ulcer | Stomach ulcer | gastric ulcer
BMGC_DS02362,BMG_DS003052,Inflammation of mouth | Inflammatory condition of oral mucous membrane | Inflammatory disease of mucous membrane | Inflammatory disease of mucous membrane (disorder) | Mucitis | Mucosal inflammation | Mucositis | Mucous membrane inflammation | Stomatitis | Stomatitis (disorder) | stomatitis
BMGC_DS02363,BMG_DS003053,"Aphthous Stomatitis | Stomatitis, Aphthous | aphthous stomatitis"
BMGC_DS02364,BMG_DS003054,"Stomatitis, Denture | denture stomatitis"
BMGC_DS02365,BMG_DS003056,"Disorder of oral mucosa, unspecified | Ulcerative stomatitis | Ulcerative stomatitis (disorder) | ulcerative stomatitis"
BMGC_DS02366,BMG_DS003057,Stomatognathic Diseases
BMGC_DS02367,BMG_DS003058,Disorder of binocular eye movements | Ocular dissociation | Squint | Strabismus | Strabismus (disorder) | strabismus
BMGC_DS02368,BMG_DS003059,Streptococcal Infections | streptococcal infection
BMGC_DS02369,BMG_DS003060,post-traumatic stress disorder
BMGC_DS02370,BMG_DS003061,Female stress incontinence | Female urinary stress incontinence | Female urinary stress incontinence (finding) | female stress incontinence
BMGC_DS02371,BMG_DS003062,(Cerebral infarct) or (cerebrovascular accident) or (undefined stroke/CVA) or (stroke NOS) | (Cerebral infarct) or (cerebrovascular accident) or (undefined stroke/CVA) or (stroke NOS) (disorder) | Accident - cerebrovascular | CVA - Cerebrovascular accident | Cerebral infarct | Cerebrovascular accident | Cerebrovascular accident (disorder) | Cerebrovascular disease | Cerebrovascular: [disease] or [accident] | Cerebrovascular: [disease] or [accident] (disorder) | Stroke | Stroke NOS | Stroke/CVA - undefined | stroke disorder
BMGC_DS02372,BMG_DS003063,"Corneal Dystrophies, Hereditary | Stromal Dystrophies, Corneal | stromal corneal dystrophy"
BMGC_DS02373,BMG_DS003064,"Strongyle Infections, Equine | strongyle infections, equine"
BMGC_DS02374,BMG_DS003065,Infection by Strongyloides | Infection caused by Strongyloides | Infection caused by Strongyloides (disorder) | Strongyloidiasis | Strongyloidosis | strongyloidiasis
BMGC_DS02375,BMG_DS003067,Sturge-Weber Syndrome | Sturge-Weber syndrome
BMGC_DS02376,BMG_DS003068,stuttering
BMGC_DS02377,BMG_DS003069,Subacute Sclerosing Panencephalitis | subacute sclerosing panencephalitis
BMGC_DS02378,BMG_DS003070,Subarachnoid Hemorrhage | subarachnoid hemorrhage
BMGC_DS02379,BMG_DS003071,Subclavian Steal Syndrome | subclavian steal syndrome
BMGC_DS02380,BMG_DS003072,"Empyema, Subdural | subdural empyema"
BMGC_DS02381,BMG_DS003074,Submandibular Gland Diseases | submandibular gland disease | submandibular gland disorder
BMGC_DS02382,BMG_DS003081,Cot death | Crib death | SIDS - sudden infant death syndrome | Sudden infant death syndrome | Sudden infant death syndrome (finding) | Unexpected sudden death of infant | sudden infant death syndrome
BMGC_DS02383,BMG_DS003082,Sulfhemoglobinemia | Sulfhemoglobinemia (disorder) | Sulphaemoglobinaemia | sulfhemoglobinemia
BMGC_DS02384,BMG_DS003084,Superimposed infection | Superimposed infection (disorder) | Superinfection | Superinfection (disorder)
BMGC_DS02385,BMG_DS003085,Superior Mesenteric Artery Syndrome | superior mesenteric artery syndrome
BMGC_DS02386,BMG_DS003086,Superior Vena Cava Syndrome | superior vena cava syndrome
BMGC_DS02387,BMG_DS003087,Superior Vena Cava Syndrome | Superior Vena Cava Thrombosis
BMGC_DS02388,BMG_DS003088,Nuchal dystonia-dementia syndrome | PSP - progressive supranuclear palsy | Progressive supranuclear ophthalmoplegia | Progressive supranuclear ophthalmoplegia (disorder) | Progressive supranuclear palsy | Progressive supranuclear palsy (disorder) | progressive supranuclear palsy
BMGC_DS02389,BMG_DS003089,"Neuralgia | Neuralgia, Supraorbital"
BMGC_DS02390,BMG_DS003090,supratentorial cancer
BMGC_DS02391,BMG_DS003091,copper deficiency myelopathy
BMGC_DS02392,BMG_DS003092,Sweat Gland Diseases | sweat gland disease
BMGC_DS02393,BMG_DS003093,sweat gland benign neoplasm | sweat gland neoplasm
BMGC_DS02394,BMG_DS003095,"Frey syndrome | Sweating, Gustatory"
BMGC_DS02395,BMG_DS003096,Swine Diseases | swine disease
BMGC_DS02396,BMG_DS003099,Folliculitis | Sycosis | Sycosis (disorder)
BMGC_DS02397,BMG_DS003100,syndactyly
BMGC_DS02398,BMG_DS003101,Clinical disease AND/OR syndrome | Disease | Disease (disorder) | Diseases | Disorder | Disorders | Syndrome | syndrome | syndromic disease
BMGC_DS02399,BMG_DS003103,synostosis
BMGC_DS02400,BMG_DS003104,synovial sarcoma
BMGC_DS02401,BMG_DS003105,Synovitis | Synovitis &/or tenosynovitis | Synovitis &/or tenosynovitis (disorder) | Synovitis (disorder) | Synovitis/tenosynovitis | Tenosynovitis | Undifferentiated inflammatory arthritis | synovitis
BMGC_DS02402,BMG_DS003107,"pigmented villonodular synovitis | tenosynovial giant cell tumor, diffuse type"
BMGC_DS02403,BMG_DS003109,(Syphilis (& [other and unspecified])) or (treponemal infection) | (Syphilis (& [other and unspecified])) or (treponemal infection) (disorder) | Infection by Treponema pallidum | Lues | Luetic disease | Other and unspecified syphilis | Syphilis | Syphilis (disorder) | Treponemal disease | Treponemal infection | syphilis
BMGC_DS02404,BMG_DS003111,"Syphilis, Congenital | congenital syphilis"
BMGC_DS02405,BMG_DS003113,"Syphilis, Latent | latent syphilis"
BMGC_DS02406,BMG_DS003115,(Myelopathy NOS) or (syringomyelia) | (Myelopathy NOS) or (syringomyelia) (disorder) | Hydrosyringomyelia | Myelopathy NOS | Myelosyringosis | Syringomyelia | Syringomyelia (disorder) | Syringomyelia-anaesthesia syndrome | Syringomyelia-anesthesia syndrome | syringomyelia
BMGC_DS02407,BMG_DS003117,Tabes Dorsalis | tabes dorsalis
BMGC_DS02408,BMG_DS003118,"Tachycardia, Atrioventricular Nodal Reentry"
BMGC_DS02409,BMG_DS003119,"Tachycardia, Ectopic Atrial"
BMGC_DS02410,BMG_DS003121,"Tachycardia, Paroxysmal"
BMGC_DS02411,BMG_DS003123,"Sinus Tachycardia | Tachycardia, Sinus"
BMGC_DS02412,BMG_DS003124,"Parox. supravent. tachycardia | Paroxysmal artrial tachycardia | Paroxysmal atrial tachycardia | Paroxysmal sup. tachy. | SVT - Supraventricular tachycardia | Supravent. tach. parox. | Supraventricular tachyarrhythmia, unspecified | Supraventricular tachycardia | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) (disorder) | Supraventricular tachycardia (disorder) | Tachycardia - parox.sup"
BMGC_DS02413,BMG_DS003126,Takayasu Arteritis | Takayasu arteritis | Takayasu's arteritis
BMGC_DS02414,BMG_DS003127,Tangier Disease | Tangier disease
BMGC_DS02415,BMG_DS003128,Tarsal Tunnel Syndrome | tarsal tunnel syndrome
BMGC_DS02416,BMG_DS003129,Taste Disorders
BMGC_DS02417,BMG_DS003130,Tay-Sachs Disease | Tay-Sachs disease
BMGC_DS02418,BMG_DS003131,Diseases of capillaries NOS | HHT - Hereditary haemorrhagic telangiectasia | HHT - Hereditary hemorrhagic telangiectasia | Heredit. haemorr.telang | Heredit. hemorr.telang | Hereditary haemorrhagic telangiectasia | Hereditary hemorrhagic telangiectasia | Osler haemorrhagic telangiectasia syndrome | Osler hemorrhagic telangiectasia syndrome | Osler hemorrhagic telangiectasia syndrome (disorder) | Osler-Rendu-Weber disease | Osler-Rendu-Weber syndrome | Osler-Weber-Rendu disease | Telangiectasia | Telangiectasia (& [hereditary haemorrhagic]) or diseases of capillaries NOS | Telangiectasia (& [hereditary haemorrhagic]) or diseases of capillaries NOS (disorder) | Telangiectasia (& [hereditary hemorrhagic]) or diseases of capillaries NOS | Vascular spider | hereditary hemorrhagic telangiectasia
BMGC_DS02419,BMG_DS003132,telangiectasis
BMGC_DS02420,BMG_DS003133,Giant Cell Arteritis | temporal arteritis
BMGC_DS02421,BMG_DS003135,Temporomandibular Joint Disorders | temporomandibular joint disorder
BMGC_DS02422,BMG_DS003136,Temporomandibular Joint Dysfunction Syndrome | temporomandibular joint dysfunction syndrome
BMGC_DS02423,BMG_DS003137,Inflammatory disorder of tendon | Tendinitis | Tendinitis (disorder) | Tendinopathy | Tendonitis | tendinitis
BMGC_DS02424,BMG_DS003138,Tennis Elbow | epicondylitis
BMGC_DS02425,BMG_DS003139,Inflammation of tendon sheath | Synovitis | Synovitis &/or tenosynovitis | Synovitis &/or tenosynovitis (disorder) | Synovitis/tenosynovitis | Tendinous synovitis | Tendovaginitis | Tenontolemmitis | Tenosynovitis | Tenosynovitis (disorder) | Tenovaginitis | tenosynovitis
BMGC_DS02426,BMG_DS003140,teratoma
BMGC_DS02427,BMG_DS003141,Testicular Diseases | testicular disease | testicular disorder
BMGC_DS02428,BMG_DS003142,Androgen-Insensitivity Syndrome | androgen insensitivity syndrome
BMGC_DS02429,BMG_DS003143,neoplasm of testis | testicular cancer
BMGC_DS02430,BMG_DS003144,Hypocalcaemic cataract | Hypocalcemic cataract | Tetanic cataract | Tetanic cataract (disorder) | tetanic cataract
BMGC_DS02431,BMG_DS003145,Tetanus | Tetanus (disorder) | tetanus
BMGC_DS02432,BMG_DS003146,tetralogy of Fallot | tetralogy of fallot
BMGC_DS02433,BMG_DS003147,Thalamic Diseases | thalamic disease | thalamic disorder
BMGC_DS02434,BMG_DS003148,"(Thalassaemia (& Mediterranean anaemia)) or (leptocytosis, hereditary) | (Thalassaemia (& Mediterranean anaemia)) or (leptocytosis, hereditary) (disorder) | (Thalassaemia) or (pyruvate kinase deficiency) | (Thalassaemia) or (pyruvate kinase deficiency) (disorder) | (Thalassemia (& Mediterranean anemia)) or (leptocytosis, hereditary) | (Thalassemia) or (pyruvate kinase deficiency) | Hereditary leptocytosis | Leptocytosis, hereditary | Mediterranean anaemia | Mediterranean anemia | Pyruvate kinase deficiency | Thalassaemia | Thalassaemia (disorder) | Thalassaemias | Thalassemia | Thalassemia (disorder) | Thalassemias | thalassemia"
BMGC_DS02435,BMG_DS003149,Thanatophoric Dysplasia | thanatophoric dysplasia
BMGC_DS02436,BMG_DS003151,Infection by Theileria | Infection caused by Theileria | Infection caused by Theileria (disorder) | Theileriasis | Theileriosis | theileriasis
BMGC_DS02437,BMG_DS003152,Thiamine Deficiency
BMGC_DS02438,BMG_DS003154,Thoracic Diseases | obsolete thoracic disorder
BMGC_DS02439,BMG_DS003155,neoplasm of thorax | thoracic cancer
BMGC_DS02440,BMG_DS003156,Thoracic Outlet Syndrome | thoracic outlet syndrome
BMGC_DS02441,BMG_DS003157,Glanzmann thrombasthenia | Glanzmann thrombasthenia 1 | Glanzmann thromboasthenia | Glanzmann's disease | Glanzmann's syndrome | Glanzmann's thrombasthenia | Glanzmann's thrombasthenia (disorder) | Glanzmann-Naegeli disorder | Hereditary haemorrhagic thrombasthenia | Hereditary hemorrhagic thrombasthenia | Hereditary thromboasthenia | Thrombasthenia
BMGC_DS02442,BMG_DS003158,Thromboangiitis Obliterans | thromboangiitis obliterans
BMGC_DS02443,BMG_DS003159,"Thrombocythemia, Essential | essential thrombocythemia"
BMGC_DS02444,BMG_DS003160,Auto-immune thrombocytopenia | Decreased platelet count | Platelet count below reference range | Platelet count below reference range (finding) | Thrombocytopenia | Thrombocytopenia (& [auto-immune]) | Thrombocytopenia (& [auto-immune]) (finding) | Thrombocytopenia (& [auto-immune]) (procedure) | Thrombocytopenia (disorder) | Thrombocytopenic disorder | Thrombocytopenic disorder (disorder) | thrombocytopenia
BMGC_DS02445,BMG_DS003161,thrombophlebitis
BMGC_DS02446,BMG_DS003162,thrombotic disease
BMGC_DS02447,BMG_DS003164,thymoma
BMGC_DS02448,BMG_DS003165,Thymus Hyperplasia
BMGC_DS02449,BMG_DS003167,Thyroid Crisis | thyroid crisis
BMGC_DS02450,BMG_DS003168,Thyroid Diseases | thyroid gland disease
BMGC_DS02451,BMG_DS003169,thyroid cancer | thyroid tumor
BMGC_DS02452,BMG_DS003170,Thyroiditis | Thyroiditis (disorder) | thyroiditis
BMGC_DS02453,BMG_DS003171,De Quervain's disease | De Quervain's thyroiditis | Pseudogranulomatous thyroiditis | Subacute thyroiditis | Subacute thyroiditis (& [de Quervain's]) | Subacute thyroiditis (& [de Quervain's]) (disorder) | Subacute thyroiditis (disorder) | de Quervain's thyroiditis | subacute thyroiditis
BMGC_DS02454,BMG_DS003172,"Thyroiditis, Suppurative | suppurative thyroiditis"
BMGC_DS02455,BMG_DS003173,"([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goiter) | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) (disorder) | Goiter - toxic | Goitre - toxic | Graves disease | Graves' disease | Hyperthyroidism | Nodule - thyroid, toxic | Thyrotoxicosis | Thyrotoxicosis (disorder) | Thyrotoxicosis +/- goiter | Thyrotoxicosis +/- goitre | Thyrotoxicosis: [+/- goiter] or [toxic goiter] or [Graves disease] or [thyroid nodule] | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] (disorder) | Toxic goiter | Toxic goitre | Toxic thyroid nodule | thyrotoxicosis"
BMGC_DS02456,BMG_DS003174,tic disorder
BMGC_DS02457,BMG_DS003175,Tick Infestations | tick infestation
BMGC_DS02458,BMG_DS003176,Tick Paralysis | tick paralysis
BMGC_DS02459,BMG_DS003179,Tietze syndrome | Tietze's Syndrome | Tietze's syndrome
BMGC_DS02460,BMG_DS003180,(Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) | (Dermatophytosis &/or tinea &/or ringworm) or (skin fungal infection) | (Dermatophytosis &/or tinea &/or ringworm) or (skin fungal infection) (disorder) | Dermatophytosis | Dermatophytosis (disorder) | Dermatophytosis including tinea or ringworm | Dermatophytosis-tinea/ringworm | Fungal infection | Fungal infection of skin | Fungal infections | Microsporic tinea | Mycoses | Ringworm | Tinea | tinea infection
BMGC_DS02461,BMG_DS003181,Piedra | White Piedra | white piedra
BMGC_DS02462,BMG_DS003182,Tinea Capitis
BMGC_DS02463,BMG_DS003183,Body tinea | Dermatophytosis of the trunk | Herpes circinatus | Tinea circinata | Tinea circinatus | Tinea corporis | Tinea corporis (disorder) | tinea corporis
BMGC_DS02464,BMG_DS003185,Tinea Favosa | tinea favosa
BMGC_DS02465,BMG_DS003187,Tinea Pedis | tinea pedis
BMGC_DS02466,BMG_DS003188,(Nail: [dermatophytosis] or [fungal infection]) or (onychomycosis) or (tinea unguium) | (Nail: [dermatophytosis] or [fungal infection]) or (onychomycosis) or (tinea unguium) (disorder) | Dermatophytic onychia | Dermatophytosis of nail | Dermatophytosis of nail (disorder) | Fungal infection of nail | Fungal nail infection | OM - Onychomycosis | Onychomycosis | Onychomycosis (& [tinea of nail]) | Onychomycosis (& [tinea of nail]) (disorder) | Onychomycosis (disorder) | Ringworm of nail | Tinea of nail | Tinea of nail - onychomycosis | Tinea unguium | Tinea unguium (disorder) | tinea unguium
BMGC_DS02467,BMG_DS003189,Tinea Versicolor | pityriasis versicolor
BMGC_DS02468,BMG_DS003190,(Tinnitus) or (hearing noises) | (Tinnitus) or (hearing noises) (disorder) | Hearing noises | Noise in ears | Ringing in ears | Tinnitus | Tinnitus (disorder) | Tinnitus (finding)
BMGC_DS02469,BMG_DS003192,Tolosa-Hunt Syndrome | Tolosa-Hunt syndrome | tolosa-hunt syndrome
BMGC_DS02470,BMG_DS003193,Tongue Diseases | tongue disease | tongue disorder
BMGC_DS02471,BMG_DS003194,tongue neoplasm
BMGC_DS02472,BMG_DS003195,fissured tongue
BMGC_DS02473,BMG_DS003196,Black hairy tongue | Black hairy tongue (disorder) | Black tongue | Hairy tongue | Lingua villosa nigra | Melanoglossia | hairy tongue
BMGC_DS02474,BMG_DS003198,Acute tonsillitis | Throat infection - tonsillitis | Tonsillitis | Tonsillitis (& acute) | Tonsillitis (& acute) (disorder) | Tonsillitis (disorder) | tonsillitis
BMGC_DS02475,BMG_DS003199,Tooth Diseases | tooth disease | tooth disorder
BMGC_DS02476,BMG_DS003200,"Tooth Erosion | tooth erosion | tooth erosion, non-bacterial"
BMGC_DS02477,BMG_DS003202,Tooth Resorption | tooth resorption
BMGC_DS02478,BMG_DS003204,"teeth, supernumerary"
BMGC_DS02479,BMG_DS003205,Torsades de Pointes | torsades de pointes
BMGC_DS02480,BMG_DS003206,inherited torticollis
BMGC_DS02481,BMG_DS003207,(Psychogenic tics) or (Gilles de la Tourette's syndrome) | (Psychogenic tics) or (Gilles de la Tourette's syndrome) (disorder) | Combined vocal and multiple motor tic disorder | Gilles de la Tourette syndrome | Gilles de la Tourette syndrome (disorder) | Gilles de la Tourette's syndr. | Gilles de la Tourette's syndrome | Gilles de la Tourette's syndrome (disorder) | Gilles de la Tourettes syndrome | Psychogenic tics | Tourette syndrome | Tourette's disorder | Tourette's syndrome
BMGC_DS02482,BMG_DS003208,Toxascariasis | toxascariasis
BMGC_DS02483,BMG_DS003209,Infection by Toxascaris | Infection by Toxascaris (disorder) | Infection caused by Toxocara | Infection caused by Toxocara (disorder) | Toxascariosis | Toxocara infection | Toxocariasis | Toxocariasis (disorder) | Toxocarosis | toxocariasis
BMGC_DS02484,BMG_DS003210,(Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | Infection by Toxoplasma gondii | Infection by Toxoplasma gondii (disorder) | Leech infestation | Maggot infestation | Myiasis | Other infect. and parasit.dis. | Other infectious and parasitic diseases | Toxoplasmosis | Toxoplasmosis (disorder) | toxoplasmosis
BMGC_DS02485,BMG_DS003212,"Toxoplasmosis, Congenital | congenital toxoplasmosis"
BMGC_DS02486,BMG_DS003215,Tracheal Diseases | tracheal disease
BMGC_DS02487,BMG_DS003217,Tracheal Stenosis | tracheal stenosis
BMGC_DS02488,BMG_DS003218,Tracheitis | Tracheitis (disorder) | tracheitis
BMGC_DS02489,BMG_DS003220,Congenital tracheobronchomegaly | Congenital tracheobronchomegaly (disorder) | Mounier-Kuhn syndrome | Tracheobronchomegaly
BMGC_DS02490,BMG_DS003221,esophageal atresia/tracheoesophageal fistula
BMGC_DS02491,BMG_DS003222,(AIDS with viral/chlamydial dis NOS) or (ornithosis) or (trachoma) | (AIDS with viral/chlamydial dis NOS) or (ornithosis) or (trachoma) (disorder) | AIDS with viral/chlamydial disease NOS | Aids +viral/chlamydial dis.NOS | Ornithosis | Trachoma | Trachoma (disorder) | trachoma
BMGC_DS02492,BMG_DS003224,adjustment disorder
BMGC_DS02493,BMG_DS003225,transient tic disorder
BMGC_DS02494,BMG_DS003226,transposition of the great arteries
BMGC_DS02495,BMG_DS003227,transvestism
BMGC_DS02496,BMG_DS003230,Trench Fever | trench fever
BMGC_DS02497,BMG_DS003233,Infection by larvae of Trichinella | Infection by larvae of Trichinella spiralis | Infection caused by larvae of Trichinella | Infection caused by larvae of Trichinella (disorder) | Infection caused by larvae of Trichinella spiralis | Infection caused by larvae of Trichinella spiralis (disorder) | Trichinelliasis | Trichinelliasis caused by Trichinella spiralis | Trichinellosis | Trichinellosis caused by Trichinella spiralis | Trichiniasis | Trichiniasis caused by Trichinella spiralis | Trichinosis | Trichinosis caused by Trichinella spiralis | trichinellosis | trichinosis
BMGC_DS02498,BMG_DS003234,Trichomonas Infections | trichomoniasis
BMGC_DS02499,BMG_DS003235,Trichomonas Vaginitis | Trichomonas vaginalis trichomoniasis | Trichomonas vaginitis urogenital infection
BMGC_DS02500,BMG_DS003239,Tinea | Trichophytosis | Trichophytosis (disorder)
BMGC_DS02501,BMG_DS003240,Trichostrongyloidiasis | trichostrongyloidiasis
BMGC_DS02502,BMG_DS003241,Infection by Trichostrongylus | Trichostrongyliasis | Trichostrongyliasis (disorder) | Trichostrongylosis | trichostrongylosis
BMGC_DS02503,BMG_DS003242,trichotillomania
BMGC_DS02504,BMG_DS003243,Infection by Trichocephalus trichiura | Infection by Trichuris trichiura | Infection caused by Trichocephalus trichiura | Infection caused by Trichuris trichiura | Infection caused by Trichuris trichiura (disorder) | trichuriasis
BMGC_DS02505,BMG_DS003244,Tricuspid Valve Insufficiency | tricuspid valve insufficiency
BMGC_DS02506,BMG_DS003245,Tricuspid Valve Prolapse | tricuspid valve prolapse
BMGC_DS02507,BMG_DS003246,Tricuspid Valve Stenosis | tricuspid valve stenosis
BMGC_DS02508,BMG_DS003247,Trigeminal Neuralgia | trigeminal neuralgia
BMGC_DS02509,BMG_DS003248,Trismus | Trismus (disorder) | Trismus (finding) | [D] Trismus
BMGC_DS02510,BMG_DS003250,Trombiculiasis | trombiculiasis
BMGC_DS02511,BMG_DS003251,trophoblastic neoplasm
BMGC_DS02512,BMG_DS003252,Infectious myositis | Pyomyositis | Tropical myositis | Tropical pyomyositis | Tropical pyomyositis (disorder) | pyomyositis
BMGC_DS02513,BMG_DS003253,persistent truncus arteriosus
BMGC_DS02514,BMG_DS003254,(Rickettsioses [& named variants]) or (trypanosomiasis) | (Rickettsioses [& named variants]) or (trypanosomiasis) (disorder) | Q fever | Rickettsioses etc | Rickettsioses etc. | Rocky Mountain spotted fever | Trypanosomiasis | Trypanosomiasis (disorder) | Trypanosomosis | Typhus | trypanosomiasis
BMGC_DS02515,BMG_DS003255,"African Trypanosomiasis | Trypanosomiasis, African | human African trypanosomiasis | sleeping sickness"
BMGC_DS02516,BMG_DS003259,Chagas Disease | Chagas disease
BMGC_DS02517,BMG_DS003261,Tuberculoma | Tuberculoma (disorder) | tuberculoma | tuberculosis
BMGC_DS02518,BMG_DS003262,TB - Tuberculosis | Tuberculosis | Tuberculosis (disorder) | tuberculosis
BMGC_DS02519,BMG_DS003265,"Tuberculosis, Bovine | tuberculosis, bovine"
BMGC_DS02520,BMG_DS003266,"Tuberculosis, Cardiovascular | cardiac tuberculosis"
BMGC_DS02521,BMG_DS003267,"Tuberculosis, Cutaneous | cutaneous tuberculosis"
BMGC_DS02522,BMG_DS003270,"Tuberculosis, Gastrointestinal | gastrointestinal tuberculosis"
BMGC_DS02523,BMG_DS003271,"Tuberculosis, Hepatic | hepatic tuberculosis"
BMGC_DS02524,BMG_DS003272,"Tuberculosis, Laryngeal | laryngeal tuberculosis"
BMGC_DS02525,BMG_DS003275,"Tuberculosis, Meningeal | meningeal tuberculosis"
BMGC_DS02526,BMG_DS003276,"Tuberculosis, Miliary | miliary tuberculosis"
BMGC_DS02527,BMG_DS003277,"Tuberculosis, Ocular | ocular tuberculosis"
BMGC_DS02528,BMG_DS003278,"Tuberculosis, Oral | oral tuberculosis"
BMGC_DS02529,BMG_DS003280,"Peritonitis, Tuberculous | tuberculous peritonitis"
BMGC_DS02530,BMG_DS003281,"Pleural Tuberculosis | Tuberculosis, Pleural | pleural tuberculosis"
BMGC_DS02531,BMG_DS003282,"Tuberculosis, Pulmonary | pulmonary tuberculosis"
BMGC_DS02532,BMG_DS003283,"Tuberculosis, Renal | renal tuberculosis"
BMGC_DS02533,BMG_DS003284,"Tuberculosis, Spinal | tuberculosis, spinal"
BMGC_DS02534,BMG_DS003287,"Tuberculosis, Urogenital | urogenital tuberculosis"
BMGC_DS02535,BMG_DS003289,tuberous sclerosis
BMGC_DS02536,BMG_DS003290,Tubo ovarian abscess | Tubo-ovarian abscess | Tubo-ovarian abscess (disorder)
BMGC_DS02537,BMG_DS003291,"Nephritis, Interstitial | Nephritis, Tubulointerstitial | interstitial nephritis"
BMGC_DS02538,BMG_DS003292,Deer fly fever | Deerfly fever | Francis' disease | Infection by Francisella tularensis | O'Hara's disease | Ohara's disease | Pahvant Valley fever | Pahvant Valley plague | Rabbit fever | Tularaemia | Tularemia | Tularemia (disorder) | Yatobyo | tularemia
BMGC_DS02539,BMG_DS003293,Tumor Lysis Syndrome | tumor lysis syndrome
BMGC_DS02540,BMG_DS003294,Turner Syndrome | Turner syndrome
BMGC_DS02541,BMG_DS003295,"Noonan Syndrome | Turner Syndrome, Male"
BMGC_DS02542,BMG_DS003297,Typhoid Fever | typhoid fever
BMGC_DS02543,BMG_DS003298,typhus
BMGC_DS02544,BMG_DS003299,"Endemic Flea-Borne Typhus | Typhus, Endemic Flea-Borne | endemic typhus | typhus"
BMGC_DS02545,BMG_DS003300,"Typhus, Epidemic Louse-Borne | epidemic louse-borne typhus | typhus"
BMGC_DS02546,BMG_DS003301,ulcer disease
BMGC_DS02547,BMG_DS003304,Ancylostomiasis | Ancylostomiasis due to Ancylostoma duodenale | Ancylostomosis | Hookworm infection | Infection by Uncinaria | Infection by Uncinaria (disorder) | Infection caused by Uncinaria | Infection caused by Uncinaria (disorder) | Uncinariasis | Uncinariosis
BMGC_DS02548,BMG_DS003305,attention deficit hyperactivity disorder
BMGC_DS02549,BMG_DS003306,melancholic depression
BMGC_DS02550,BMG_DS003309,immune system disease
BMGC_DS02551,BMG_DS003310,Disorder of tympanic membrane | Disorder of tympanic membrane (disorder) | TM - Tympanic membrane disorder | Tympanic membrane disorder | tympanic membrane disease | tympanic membrane disorder
BMGC_DS02552,BMG_DS003311,Erythema | Erythema (finding) | Erythema (morphologic abnormality) | Erythema - observation
BMGC_DS02553,BMG_DS003312,internal hemorrhoid
BMGC_DS02554,BMG_DS003313,dissociative disorder
BMGC_DS02555,BMG_DS003314,toxic pneumonitis
BMGC_DS02556,BMG_DS003315,Respiratory Tract Infections | Upper Respiratory Infections | respiratory tract infectious disorder
BMGC_DS02557,BMG_DS003316,urachal cyst
BMGC_DS02558,BMG_DS003317,Uraemia | Uremia | Uremia (disorder) | uremia
BMGC_DS02559,BMG_DS003318,Calculus of ureter | Ureteral calculus | Ureteral stone | Ureteric calculus | Ureteric stone | Ureteric stone (disorder) | Ureterolithiasis | Ureterolithiasis (disorder) | ureterolithiasis
BMGC_DS02560,BMG_DS003319,ureter neoplasm | ureteral benign neoplasm
BMGC_DS02561,BMG_DS003322,ureterocele
BMGC_DS02562,BMG_DS003323,Urethral Diseases | urethral disease | urethral disorder
BMGC_DS02563,BMG_DS003324,urethra neoplasm | urethral benign neoplasm
BMGC_DS02564,BMG_DS003325,Urethral Obstruction | urethral obstruction
BMGC_DS02565,BMG_DS003326,Urethral Stenosis | Urethral Stricture
BMGC_DS02566,BMG_DS003327,Inflammation of urethra | Urethritis | Urethritis (disorder) | urethritis
BMGC_DS02567,BMG_DS003328,"Urinary Incontinence, Stress | Urinary Stress Incontinence"
BMGC_DS02568,BMG_DS003329,Infection of urinary tract | UTI - Urinary tract infection | Urinary infection NOS | Urinary tract infection | Urinary tract infection (& [NOS]) | Urinary tract infection (& [NOS]) (disorder) | Urinary tract infection NOS | Urinary tract infectious disease | Urinary tract infectious disease (disorder) | urinary tract infection
BMGC_DS02569,BMG_DS003331,Urination Disorders
BMGC_DS02570,BMG_DS003332,Urologic Diseases | urinary system disorder
BMGC_DS02571,BMG_DS003333,urinary system benign neoplasm | urinary system neoplasm
BMGC_DS02572,BMG_DS003334,(Angioneurotic edema) or (urticaria) | (Angioneurotic oedema) or (urticaria) | (Angioneurotic oedema) or (urticaria) (disorder) | Angioneurotic edema | Angioneurotic oedema | Urticaria | Urticaria (disorder) | Urticaria (morphologic abnormality) | urticaria
BMGC_DS02573,BMG_DS003335,maculopapular cutaneous mastocytosis | urticaria pigmentosa
BMGC_DS02574,BMG_DS003336,Uterine Diseases | uterine disease | uterine disorder
BMGC_DS02575,BMG_DS003337,uterine corpus leiomyoma | uterine fibroid
BMGC_DS02576,BMG_DS003339,tumor of uterus | uterine cancer
BMGC_DS02577,BMG_DS003341,Uveal Diseases | uveal disease | uveal disorder
BMGC_DS02578,BMG_DS003343,Ciliary body disorders | Cyclitis | Disorders of iris and ciliary body | Intraocular inflammation | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) (disorder) | Iris disorders | Iris/ciliary body disorders | Uveitis | Uveitis (disorder) | uveitis
BMGC_DS02579,BMG_DS003344,Anterior uveitis | Anterior uveitis (disorder) | Iridocyclitis | Iridocyclitis (disorder) | anterior uveitis
BMGC_DS02580,BMG_DS003345,"Uveitis, Intermediate | intermediate uveitis"
BMGC_DS02581,BMG_DS003346,"Uveitis, Posterior | posterior uveitis"
BMGC_DS02582,BMG_DS003347,"Uveitis, Suppurative | suppurative uveitis"
BMGC_DS02583,BMG_DS003348,Uveomeningoencephalitic Syndrome | Vogt-Koyanagi-Harada disease
BMGC_DS02584,BMG_DS003349,Uveoparotid Fever | uveoparotid fever
BMGC_DS02585,BMG_DS003351,Vaccinia | Vaccinia (disorder) | vaccinia
BMGC_DS02586,BMG_DS003354,vaginal cancer
BMGC_DS02587,BMG_DS003355,Vaginal Diseases | vaginal disease | vaginal disorder
BMGC_DS02588,BMG_DS003356,vaginal cancer | vaginal neoplasm
BMGC_DS02589,BMG_DS003357,psychologic vaginismus
BMGC_DS02590,BMG_DS003358,Inflammation of vagina | Vaginitis | Vaginitis (disorder) | vaginitis
BMGC_DS02591,BMG_DS003359,Vaginitis and vulvovaginitis | Vaginitis and vulvovaginitis (disorder) | vaginitis
BMGC_DS02592,BMG_DS003360,Migraine Disorders | Migraine Variant | migraine
BMGC_DS02593,BMG_DS003361,Scrotal varices | Varicocele | Varicocele (disorder) | varicocele
BMGC_DS02594,BMG_DS003362,Varicose Ulcer
BMGC_DS02595,BMG_DS003363,varicose disease | varicose veins
BMGC_DS02596,BMG_DS003366,conjunctival vascular disease | conjunctival vascular disorder
BMGC_DS02597,BMG_DS003367,Vascular Diseases | vascular disease | vascular disorder
BMGC_DS02598,BMG_DS003368,Male genital organ vascular diseases | Male genital organ vascular diseases (disorder) | male genital organ vascular disease
BMGC_DS02599,BMG_DS003369,Vascular Headaches | obsolete vascular headache
BMGC_DS02600,BMG_DS003370,Angiitis | Vasculitis | Vasculitis (disorder) | vasculitis
BMGC_DS02601,BMG_DS003371,"IgA Vasculitis | Vasculitis, Hemorrhagic"
BMGC_DS02602,BMG_DS003374,Velopharyngeal Insufficiency | congenital velopharyngeal incompetence
BMGC_DS02603,BMG_DS003376,Venous Insufficiency | venous insufficiency
BMGC_DS02604,BMG_DS003377,Ventricular Fibrillation | ventricular fibrillation
BMGC_DS02605,BMG_DS003378,Ventricular Outflow Obstruction
BMGC_DS02606,BMG_DS003379,"Tachycardia, Ventricular | ventricular tachycardia"
BMGC_DS02607,BMG_DS003380,Plantar wart | Plantar wart (disorder) | VP - verruca pedis | Verruca pedis | Verruca plantaris | Verruca plantaris (disorder) | plantar wart
BMGC_DS02608,BMG_DS003382,Vertebral Artery Insufficiency | Vertebrobasilar Insufficiency | vertebral artery insufficiency
BMGC_DS02609,BMG_DS003383,Vertebrobasilar Insufficiency | vertebrobasilar insufficiency
BMGC_DS02610,BMG_DS003384,Vesico-Ureteral Reflux | vesicoureteral reflux
BMGC_DS02611,BMG_DS003387,Seminal vesiculitis | Seminal vesiculitis (disorder) | Spermatocystitis | vesiculitis
BMGC_DS02612,BMG_DS003388,Vestibular Diseases | vestibular disease | vestibular disorder
BMGC_DS02613,BMG_DS003389,Vibrio Infections | vibrio infectious disease
BMGC_DS02614,BMG_DS003390,"Neuralgia | Neuralgia, Vidian"
BMGC_DS02615,BMG_DS003394,Viraemia | Viremia | Viremia (finding)
BMGC_DS02616,BMG_DS003395, | Virus Diseases | viral infectious disease
BMGC_DS02617,BMG_DS003396,Intestinal Pseudo-Obstruction | Visceral Myopathy
BMGC_DS02618,BMG_DS003398,vision disorder
BMGC_DS02619,BMG_DS003400,"Low Vision | Vision, Low"
BMGC_DS02620,BMG_DS003401,Vitamin A Deficiency | vitamin A deficiency
BMGC_DS02621,BMG_DS003402,Vitamin B 12 Deficiency | vitamin B12 deficiency
BMGC_DS02622,BMG_DS003403,Vitamin B Deficiency | vitamin B deficiency
BMGC_DS02623,BMG_DS003404,Vitamin D Deficiency | vitamin D deficiency
BMGC_DS02624,BMG_DS003405,Vitamin E Deficiency
BMGC_DS02625,BMG_DS003406,Vitamin K Deficiency | vitamin K deficiency bleeding
BMGC_DS02626,BMG_DS003407,Vitiligo | Vitiligo (disorder) | vitiligo
BMGC_DS02627,BMG_DS003409,Vitreous abscess | Vitreous abscess (disorder) | vitreous abscess
BMGC_DS02628,BMG_DS003410,Vitreous Detachment | vitreous detachment
BMGC_DS02629,BMG_DS003413,Voice Disorders | voice disorders
BMGC_DS02630,BMG_DS003414,Ischemic Contracture | Volkmann Contracture | Volkmann contracture
BMGC_DS02631,BMG_DS003415,Intestinal Volvulus | intestinal volvulus
BMGC_DS02632,BMG_DS003416,von Willebrand Disease | von Willebrand Diseases | von Willebrand disease (hereditary or acquired) | von Willebrand's disease
BMGC_DS02633,BMG_DS003418,Vulvar Diseases | vulvar disease
BMGC_DS02634,BMG_DS003419,vulva cancer | vulvar neoplasm
BMGC_DS02635,BMG_DS003420,Vulvitis | Vulvitis (disorder) | vulvitis
BMGC_DS02636,BMG_DS003421,(Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) (disorder) | Bacterial vaginosis | Vaginitis - non sp. | Vaginitis/vulvovaginitis | Vulvitis - non sp. | Vulvo-vaginitis | Vulvovaginitis | Vulvovaginitis (disorder) | vulvovaginitis
BMGC_DS02637,BMG_DS003422,Lateral Medullary Syndrome | lateral medullary syndrome
BMGC_DS02638,BMG_DS003423,Wallerian degeneration
BMGC_DS02639,BMG_DS003424,common wart
BMGC_DS02640,BMG_DS003425,Wasting Syndrome
BMGC_DS02641,BMG_DS003426,Water Intoxication | water intoxication
BMGC_DS02642,BMG_DS003427,Waterhouse-Friderichsen Syndrome | Waterhouse-Friderichsen syndrome
BMGC_DS02643,BMG_DS003429,HMN (Hereditary Motor Neuropathy) Proximal Type I | Hereditary Sensory and Motor Neuropathy | Werdnig-Hoffmann disease
BMGC_DS02644,BMG_DS003430,Werner Syndrome | Werner syndrome
BMGC_DS02645,BMG_DS003431,Wernicke Encephalopathy | Wernicke encephalopathy
BMGC_DS02646,BMG_DS003432,West Nile Fever | West Nile fever
BMGC_DS02647,BMG_DS003435,Dental Caries | Dental White Spot
BMGC_DS02648,BMG_DS003436,Infection due to Bordetella pertussis | Pertussis | Pertussis (disorder) | WC - Whooping cough | Whooping Cough | Whooping cough | pertussis
BMGC_DS02649,BMG_DS003438,Wiskott-Aldrich Syndrome | Wiskott-Aldrich syndrome
BMGC_DS02650,BMG_DS003439,Wissler syndrome | Wissler's Syndrome | Wissler-Fanconi syndrome
BMGC_DS02651,BMG_DS003440,Wolff-Parkinson-White Syndrome | Wolff-Parkinson-White syndrome
BMGC_DS02652,BMG_DS003441,Wolfram Syndrome | Wolfram syndrome
BMGC_DS02653,BMG_DS003442,Wolman Disease | Wolman disease
BMGC_DS02654,BMG_DS003444,juvenile xanthogranuloma
BMGC_DS02655,BMG_DS003445,Xanthoma | Xanthomatosis | Xanthomatosis (disorder) | xanthomatosis
BMGC_DS02656,BMG_DS003446,Anhydrotic skin | Dry skin | Ichthyosis | Vitamin A deficiency with other specified manifestations | Xeroderma | Xeroderma (disorder) | Xerodermia | ichthyosis
BMGC_DS02657,BMG_DS003447,xeroderma pigmentosum
BMGC_DS02658,BMG_DS003448,Conjunctival xerosis | Conjunctival xerosis (& [xerophthalmia]) | Conjunctival xerosis (& [xerophthalmia]) (disorder) | Vitamin A deficiency with xerophthalmia | Vitamin A deficiency with xerophthalmia (disorder) | Xerophthalmia | Xerophthalmia (disorder) | xerophthalmia
BMGC_DS02659,BMG_DS003449,(Dry mouth) or (salivary hyposecretion) | (Dry mouth) or (salivary hyposecretion) (disorder) | Absent salivary secretion | Aptyalia | Aptyalism | Asialia | Clinical xerostomia | Disturbances of salivary secretion | Dry mouth | Dry mouth (finding) | Salivary hyposecretion | Xerostomia | Xerostomia (finding)
BMGC_DS02660,BMG_DS003450,Angina - Vincents | Buba | Chancroid | Frambesia | Framboesia | Infection by Treponema pertenue | Leptospirosis | Lymphogranuloma venereum | Other venereal/spirochaete dis | Other venereal/spirochaete disease | Pian | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] (disorder) | Trench mouth | Vincent's angina | Weil's disease | Yaws | Yaws (disorder) | yaws
BMGC_DS02661,BMG_DS003451,Yellow Fever | yellow fever
BMGC_DS02662,BMG_DS003454,Yersinia pseudotuberculosis Infections | Yersinia pseudotuberculosis infectious disease
BMGC_DS02663,BMG_DS003455,Zellweger Syndrome | Zellweger spectrum disorders | Zellweger syndrome
BMGC_DS02664,BMG_DS003456,"(Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) (disorder) | Abnormal secretion of gastrin, unspecified | Excessive gastrin secretion | Hyperinsulinism | Other pancreatic secretion dis | ZE - Zollinger-Ellison syndrome | Zollinger - Ellison syndrome | Zollinger-Ellison syndr | Zollinger-Ellison syndrome | Zollinger-Ellison syndrome (disorder)"
BMGC_DS02665,BMG_DS003458,Mucormycosis | Phycomycosis | Zygomycosis | Zygomycosis (& [mucormycosis]) | Zygomycosis (& [mucormycosis]) (disorder) | Zygomycosis (disorder)
BMGC_DS02666,BMG_DS003459,Accelerated Idioventricular Rhythm
BMGC_DS02667,BMG_DS003461,ocular albinism
BMGC_DS02668,BMG_DS003462,oculocutaneous albinism
BMGC_DS02669,BMG_DS003463,Arachnoid Cysts | arachnoid cyst
BMGC_DS02670,BMG_DS003465,Cerebral Thrombosis | Intracranial Thrombosis | intracranial thrombosis
BMGC_DS02671,BMG_DS003466,Cockayne-Touraine Disease | Epidermolysis Bullosa Dystrophica
BMGC_DS02672,BMG_DS003467,"Hyperkeratosis, Epidermolytic | epidermolytic hyperkeratosis | epidermolytic ichthyosis"
BMGC_DS02673,BMG_DS003468,"Congenital Nonbullous Ichthyosiform Erythroderma | Ichthyosis, Lamellar | autosomal recessive congenital ichthyosis | congenital non-bullous ichthyosiform erythroderma"
BMGC_DS02674,BMG_DS003470,desmoid tumor
BMGC_DS02675,BMG_DS003472,Epidermolysis Bullosa Acquisita | acquired epidermolysis bullosa | epidermolysis bullosa acquisita
BMGC_DS02676,BMG_DS003473,Epidermolysis Bullosa Dystrophica | epidermolysis bullosa dystrophica
BMGC_DS02677,BMG_DS003474,"Epidermolysis Bullosa Herpetiformis Dowling-Meara | Epidermolysis Bullosa Simplex | epidermolysis bullosa simplex 1A, generalized severe"
BMGC_DS02678,BMG_DS003475,"Epidermolysis Bullosa Progressiva | Epidermolysis Bullosa, Junctional"
BMGC_DS02679,BMG_DS003476,Epidermolysis Bullosa Simplex | epidermolysis bullosa simplex
BMGC_DS02680,BMG_DS003477,"Epidermolysis Bullosa, Junctional | Junctional Epidermolysis Bullosa | junctional epidermolysis bullosa"
BMGC_DS02681,BMG_DS003479,Epidermolysis Bullosa Dystrophica | Hallopeau-Siemens Disease | recessive dystrophic epidermolysis bullosa
BMGC_DS02682,BMG_DS003480,Heart Valve Prolapse | heart valve disease
BMGC_DS02683,BMG_DS003481,Helicobacter Infections | Helicobacter pylori infectious disease
BMGC_DS02684,BMG_DS003482,Hermanski-Pudlak Syndrome | Hermansky-Pudlak syndrome
BMGC_DS02685,BMG_DS003483,holoprosencephaly
BMGC_DS02686,BMG_DS003484,"Ichthyosiform Erythroderma, Congenital"
BMGC_DS02687,BMG_DS003485,Ichthyosis Vulgaris | ichthyosis vulgaris
BMGC_DS02688,BMG_DS003486,"Ichthyosis, X-Linked | X-linked ichthyosis | recessive X-linked ichthyosis"
BMGC_DS02689,BMG_DS003487,Klein's Syndrome | Waardenburg Syndrome | Waardenburg syndrome | Waardenburg syndrome type 3
BMGC_DS02690,BMG_DS003488,Lentivirus Infections | lentivirus infection
BMGC_DS02691,BMG_DS003489,"Epidermolysis Bullosa, Junctional | Herlitz Disease | junctional epidermolysis bullosa Herlitz type"
BMGC_DS02692,BMG_DS003490,B-cell lymphoma | B-cell neoplasm
BMGC_DS02693,BMG_DS003491,diffuse large B-cell lymphoma
BMGC_DS02694,BMG_DS003494,T-cell non-Hodgkin lymphoma
BMGC_DS02695,BMG_DS003495,primary cutaneous T-cell lymphoma
BMGC_DS02696,BMG_DS003496,primary cutaneous peripheral T-cell lymphoma not otherwise specified
BMGC_DS02697,BMG_DS003497,milk allergy
BMGC_DS02698,BMG_DS003498,oligohydramnios
BMGC_DS02699,BMG_DS003502,piebaldism
BMGC_DS02700,BMG_DS003504,Postpoliomyelitis Syndrome | postpoliomyelitis syndrome
BMGC_DS02701,BMG_DS003506,"Skin Diseases, Vesiculobullous | Vesicular Skin Diseases"
BMGC_DS02702,BMG_DS003508,spina bifida
BMGC_DS02703,BMG_DS003509,Neural Tube Defects | Tethered Cord Syndrome | tethered spinal cord syndrome
BMGC_DS02704,BMG_DS003512,"Epidermolysis Bullosa Simplex | Weber-Cockayne Syndrome | epidermolysis bullosa simplex 1C, localized"
BMGC_DS02705,BMG_DS003514,Granuloma Annulare | granuloma annulare
BMGC_DS02706,BMG_DS003515,Sweet Syndrome | Sweet syndrome | sweet syndrome
BMGC_DS02707,BMG_DS003516,Lysosomal Storage Diseases | lysosomal storage disease
BMGC_DS02708,BMG_DS003517,Disseminated hyalohyphomycosis | Disseminated mycosis | Fungaemia | Fungaemia (disorder) | Fungemia | Fungemia (finding) | Systemic fungal infection | Systemic mycosis | Systemic mycosis (disorder)
BMGC_DS02709,BMG_DS003518,Ovarian Hyperstimulation Syndrome | ovarian hyperstimulation syndrome
BMGC_DS02710,BMG_DS003519,Motor Neuron Disease | motor neuron disease | motor neuron disorder
BMGC_DS02711,BMG_DS003520,Peripheral Vascular Diseases | peripheral vascular disease
BMGC_DS02712,BMG_DS003521,Benign familial chronic pemphigus | Familial benign chronic pemphigus | Familial benign pemphigus | Familial benign pemphigus (disorder) | Hailey Hailey disease | Hailey-Hailey disease
BMGC_DS02713,BMG_DS003522,Corneal Neovascularization | corneal neovascularization
BMGC_DS02714,BMG_DS003523,Severe Combined Immunodeficiency | severe combined immunodeficiency
BMGC_DS02715,BMG_DS003524,Foot Ulcer
BMGC_DS02716,BMG_DS003525,Bronchial Hyperreactivity
BMGC_DS02717,BMG_DS003526,"GM1 gangliosidosis | Gangliosidosis GM1 | Gangliosidosis, GM1"
BMGC_DS02718,BMG_DS003527,Mucopolysaccharidosis VII | Sly syndrome | mucopolysaccharidosis type 7
BMGC_DS02719,BMG_DS003528,central nervous system cancer | central nervous system neoplasm
BMGC_DS02720,BMG_DS003529,choroid plexus cancer | choroid plexus neoplasm
BMGC_DS02721,BMG_DS003530,seasonal affective disorder
BMGC_DS02722,BMG_DS003531,(Sweat gland problems NOS) or (dyshidrosis) or (hydradenitis (& [suppurativa]) | (Sweat gland problems NOS) or (dyshidrosis) or (hydradenitis (& [suppurativa]) (disorder) | Dyshidrosis | Hidradenitis | Hidradenitis (& hidradenitis suppurativa) | Hidradenitis (& hidradenitis suppurativa) (disorder) | Hidradenitis (disorder) | Hidradenitis suppurativa | Hydradenitis | Sweat gland problems NOS | hidradenitis
BMGC_DS02723,BMG_DS003532,"Bacterial Vaginosis | Vaginosis, Bacterial | bacterial vaginosis"
BMGC_DS02724,BMG_DS003533,granular cell tumor
BMGC_DS02725,BMG_DS003534,Eosinophilia-Myalgia Syndrome | eosinophilia-myalgia syndrome
BMGC_DS02726,BMG_DS003535,"Diabetes, Gestational | Gestational Diabetes | gestational diabetes"
BMGC_DS02727,BMG_DS003536,"Encephalopathy, Bovine Spongiform | encephalopathy, bovine spongiform | variant Creutzfeldt-Jakob disease"
BMGC_DS02728,BMG_DS003537,"Ovarian Failure, Premature | Primary Ovarian Insufficiency | primary ovarian failure | primary ovarian insufficiency"
BMGC_DS02729,BMG_DS003538,Cerebral Amyloid Angiopathy
BMGC_DS02730,BMG_DS003539,Psoas Abscess
BMGC_DS02731,BMG_DS003541,"Adult-Onset Still Disease | Still's Disease, Adult-Onset | adult-onset Still disease | adult-onset Still's disease"
BMGC_DS02732,BMG_DS003542,Proteus syndrome
BMGC_DS02733,BMG_DS003543,pulmonary plasma cell granuloma
BMGC_DS02734,BMG_DS003544,Orbital Pseudotumor | orbital plasma cell granuloma | orbital pseudotumor
BMGC_DS02735,BMG_DS003545,Erythema Infectiosum | erythema infectiosum
BMGC_DS02736,BMG_DS003547,Antiphospholipid Syndrome | antiphospholipid syndrome
BMGC_DS02737,BMG_DS003548,Alagille syndrome
BMGC_DS02738,BMG_DS003549,Stiff-Person Syndrome | Stiff-Person syndrome | stiff-person syndrome
BMGC_DS02739,BMG_DS003550,Hepatitis E | Hepatitis E virus infection | Viral hepatitis E | Viral hepatitis type E | Viral hepatitis type E (disorder) | hepatitis E | hepatitis E virus infection
BMGC_DS02740,BMG_DS003552,Embolism and Thrombosis
BMGC_DS02741,BMG_DS003553,Ciliophora Infections | Ciliophora infectious disease
BMGC_DS02742,BMG_DS003556,"Toxoplasmosis, Cerebral | cerebral toxoplasmosis"
BMGC_DS02743,BMG_DS003559,Li-Fraumeni Syndrome | Li-Fraumeni syndrome
BMGC_DS02744,BMG_DS003561,Serratia Infections
BMGC_DS02745,BMG_DS003563,Neisseriaceae Infections
BMGC_DS02746,BMG_DS003564,Pasteurellaceae Infections
BMGC_DS02747,BMG_DS003565,Ehrlichiosis | Ehrlichiosis (disorder) | ehrlichiosis
BMGC_DS02748,BMG_DS003566,POEMS Syndrome | POEMS syndrome
BMGC_DS02749,BMG_DS003567,Infection by Cnidosporidia | Infection by Microsporida | Infection by Microsporida (disorder) | Infection by Microsporidia | Infection caused by Microsporidia | Infection caused by Microsporidia (disorder) | Microsporidiasis | Microsporidiosis | Unspecified protozoal disease | microsporidiosis
BMGC_DS02750,BMG_DS003568,"Polyendocrinopathies, Autoimmune | autoimmune polyendocrine syndrome | autoimmune polyendocrinopathy"
BMGC_DS02751,BMG_DS003569,Angiodysplasia | Angiodysplasia (morphologic abnormality) | angiodysplasia
BMGC_DS02752,BMG_DS003570,Encephalitozoonosis | Infection by Encephalitozoon | Infection caused by Encephalitozoon | Infection caused by Encephalitozoon (disorder) | encephalitozoonosis
BMGC_DS02753,BMG_DS003571,"Polycystic Kidney, Autosomal Dominant | autosomal dominant polycystic kidney disease"
BMGC_DS02754,BMG_DS003572,"Epilepsy, Complex Partial | complex partial epilepsy"
BMGC_DS02755,BMG_DS003573,Gram-Negative Bacterial Infections | gram-negative bacterial infections
BMGC_DS02756,BMG_DS003574,Gram-Positive Bacterial Infections | gram-positive bacterial infections
BMGC_DS02757,BMG_DS003575,"Angiomatosis, Bacillary | bacillary angiomatosis"
BMGC_DS02758,BMG_DS003576,"Arthritis, Reactive | reactive arthritis"
BMGC_DS02759,BMG_DS003577,"Cryptococcal meningitis | Meningitis, Cryptococcal"
BMGC_DS02760,BMG_DS003578,"Meningitis, Bacterial | bacterial meningitis"
BMGC_DS02761,BMG_DS003579,"Meningitis, Fungal | fungal meningitis"
BMGC_DS02762,BMG_DS003581,"Epilepsy, Frontal Lobe | frontal lobe epilepsy"
BMGC_DS02763,BMG_DS003583,"Phenylketonuria, Maternal | maternal phenylketonuria | phenylketonuria"
BMGC_DS02764,BMG_DS003584,"Autosomal Recessive Polycystic Kidney Disease | Polycystic Kidney, Autosomal Recessive | autosomal recessive polycystic kidney disease"
BMGC_DS02765,BMG_DS003585,Buruli Ulcer | Buruli ulcer disease
BMGC_DS02766,BMG_DS003586,"Hyperchloraemic acidosis | Hyperchloremic acidosis | Metabolic acidosis, NAG, acidifying salts | Metabolic acidosis, normal anion gap, acidifying salts | Metabolic acidosis, normal anion gap, acidifying salts (disorder)"
BMGC_DS02767,BMG_DS003588,(Palindromic rheumatism) or (intermittent joint effusion) | (Palindromic rheumatism) or (intermittent joint effusion) (disorder) | Hench - Rosenberg syndrome | Hench-Rosenberg syndrome | Intermittent hydrarthrosis | Intermittent joint effusion | Palindromic rheumatism | Palindromic rheumatism (disorder) | palindromic rheumatism
BMGC_DS02768,BMG_DS003589,IRIDA syndrome | Iron-Refractory Iron Deficiency Anemia | microcytic anemia
BMGC_DS02769,BMG_DS003590,Normocytic anaemia | Normocytic anemia | Normocytic anemia (disorder) | normocytic anemia
BMGC_DS02770,BMG_DS003591,Thalassemia Minor | beta-Thalassemia
BMGC_DS02771,BMG_DS003592,Essential Hypertension | essential hypertension
BMGC_DS02772,BMG_DS003594,Optic Neuritis | Retrobulbar Neuritis | retrobulbar neuritis
BMGC_DS02773,BMG_DS003595,Choreoathetosis | Choreoathetosis (disorder)
BMGC_DS02774,BMG_DS003596,Brain Diseases | Encephalopathies | brain disease
BMGC_DS02775,BMG_DS003598,Liver Failure | liver failure
BMGC_DS02776,BMG_DS003599,Ventricular arrhythmia | Ventricular arrhythmia (disorder)
BMGC_DS02777,BMG_DS003600,"(Prolonged P-R interval) or (first degree AV block) | (Prolonged P-R interval) or (first degree AV block) (disorder) | First degree atrioventricular block | First degree atrioventricular block (disorder) | First degree heart block | Incomplete atrioventricular block, first degree | Prolonged P-R interval | Prolonged PR interval | first-degree atrioventricular block"
BMGC_DS02778,BMG_DS003601,RBBB - Right bundle branch block | Right bundle branch block | Right bundle branch block (disorder) | Right fascicular block
BMGC_DS02779,BMG_DS003602,(Paralytic syndromes NOS) or (diplegia) or (monoplegia) | (Paralytic syndromes NOS) or (diplegia) or (monoplegia) (disorder) | Diplegia | Hemiplegia | Monoplegia | Monoplegia (disorder) | Paralytic syndromes NOS
BMGC_DS02780,BMG_DS003604,oculogyric crisis
BMGC_DS02781,BMG_DS003605,Livedo Reticularis | livedo reticularis
BMGC_DS02782,BMG_DS003606,Purpura Fulminans | purpura fulminans
BMGC_DS02783,BMG_DS003607,Pyoderma Gangrenosum | pyoderma gangrenosum
BMGC_DS02784,BMG_DS003608,pyogenic granuloma
BMGC_DS02785,BMG_DS003609,"Neuromyositis | PM - Polymyositis | Polymyositis | Polymyositis (disorder) | Polymyositis, unspecified | polymyositis"
BMGC_DS02786,BMG_DS003610,(Contact dermatitis NOS) or (discoid eczema) or (nummular eczema) | (Contact dermatitis NOS) or (discoid eczema) or (nummular eczema) (disorder) | Contact dermatitis NOS | Discoid eczema | Nummular dermatitis | Nummular eczema | Nummular eczema (disorder) | Nummular eczematous dermatitis
BMGC_DS02787,BMG_DS003619,acute leukemia
BMGC_DS02788,BMG_DS003620,Alcoholic Neuropathy | alcoholic neuropathy | alcoholic polyneuropathy
BMGC_DS02789,BMG_DS003621,"Hyperchloraemia | Hyperchloremia | Hyperchloremia (disorder) | Other specified disorders of fluid, electrolyte or acidbase balance"
BMGC_DS02790,BMG_DS003622,Hypochloraemia | Hypochloremia | Hypochloremia (disorder)
BMGC_DS02791,BMG_DS003623,Hyperphosphataemia | Hyperphosphatemia | Hyperphosphatemia (disorder) | hyperphosphatemia
BMGC_DS02792,BMG_DS003624,Hypophosphataemia | Hypophosphatemia | Hypophosphatemia (disorder) | hypophosphatemia
BMGC_DS02793,BMG_DS003625,Chalazion | Hordeolum internum | Infected chalazion | Infected cyst of meibomian gland | Infected meibomian cyst | Infection of meibomian gland | Internal hordeolum | Internal hordeolum (disorder) | Meibomian adenitis | internal hordeolum
BMGC_DS02794,BMG_DS003629,CG - Chronic gastritis | Chronic gastritis | Chronic gastritis (disorder) | chronic gastritis
BMGC_DS02795,BMG_DS003631,(Chronic pyelonephritis) or (chronic pyonephrosis) | (Chronic pyelonephritis) or (chronic pyonephrosis) (disorder) | CPN - Chronic pyelonephritis | Chronic pyelonephritis | Chronic pyelonephritis (disorder) | Chronic pyonephrosis | Pyonephrosis - chronic | chronic pyelonephritis
BMGC_DS02796,BMG_DS003633,"Cartilage Diseases | Chondromalacia | Chondromalacia (disorder) | Chondromalacia, unspecified | chondromalacia | obsolete cartilage disease"
BMGC_DS02797,BMG_DS003635,"Mendelson Syndrome | Pneumonia, Aspiration"
BMGC_DS02798,BMG_DS003637,breast adenosis | microglandular adenosis
BMGC_DS02799,BMG_DS003638,alcohol abuse | alcohol use disorder
BMGC_DS02800,BMG_DS003640,Acute interstitial pneumonia | Acute interstitial pneumonia (disorder) | Alveolitis-idiopath. fibrosing | Cryptogenic fibrosing alveolitis | Fibrosing alveolitis-idiopath. | Fibrosing alveolitis: [idiopathic] or [cryptogenic]) or (Hamman - Rich syndrome) | Fibrosing alveolitis: [idiopathic] or [cryptogenic]) or (Hamman - Rich syndrome) (disorder) | Hamman - Rich syndrome | Hamman-Rich disease | Hamman-Rich syndrome | Idiopath. fibrosing alveolitis | Idiopath. fibrosing alveolitis (& Hamman-Rich syndrome) | Idiopath. fibrosing alveolitis (& Hamman-Rich syndrome) (disorder) | Idiopathic fibrosing alveolitis | Idiopathic fibrosing alveolitis (disorder) | Idiopathic interstitial pneumonia | Usual interstitial pneumonitis | Usual interstitial pneumonitis (disorder) | idiopathic interstitial pneumonia
BMGC_DS02801,BMG_DS003642,Anguilluliasis | Strongyloidiasis
BMGC_DS02802,BMG_DS003643,"Antibiotic-Associated Colitis | Clostridium difficile colitis | Enterocolitis, Pseudomembranous"
BMGC_DS02803,BMG_DS003644,"Polyendocrinopathies, Autoimmune | Polyglandular Type I Autoimmune Syndrome | autoimmune polyendocrine syndrome type 1"
BMGC_DS02804,BMG_DS003645,"Autoimmune Syndrome Type II, Polyglandular | Polyendocrinopathies, Autoimmune | autoimmune polyendocrinopathy type 2"
BMGC_DS02805,BMG_DS003647,Bouillaud Disease | Rheumatic Heart Disease | rheumatic heart disease
BMGC_DS02806,BMG_DS003648,Brachial Neuralgia | Brachial Plexus Neuritis
BMGC_DS02807,BMG_DS003652,"Dermatitis, Atopic | Eczema, Infantile"
BMGC_DS02808,BMG_DS003653,(Threadworms &/or enterobiasis) or (pinworm) | (Threadworms &/or enterobiasis) or (pinworm) (disorder) | Enterobiasis | Enterobiasis (disorder) | Enterobiasis - threadworm | Enterobiosis | Infection by Enterobius vermicularis | Infection by Enterobius vermicularis (disorder) | Oxyuriasis | Pinworm | Pinworm disease | Pinworm infection | Threadworm infection | Threadworms | Threadworms - enterobiasis | enterobiasis
BMGC_DS02809,BMG_DS003654,"Epilepsy, Atonic | Epilepsy, Generalized"
BMGC_DS02810,BMG_DS003655,"Epilepsy | Epilepsy, Cryptogenic"
BMGC_DS02811,BMG_DS003657,"Epilepsies, Partial | Epilepsy, Simple Partial"
BMGC_DS02812,BMG_DS003658,"Epilepsy, Generalized | Epilepsy, Tonic"
BMGC_DS02813,BMG_DS003659,Essential Polyarteritis | Polyarteritis Nodosa
BMGC_DS02814,BMG_DS003660,Gonadotropin-Resistant Ovary Syndrome | Primary Ovarian Insufficiency
BMGC_DS02815,BMG_DS003661,"Granuloma Gangraenescens | Granuloma, Lethal Midline"
BMGC_DS02816,BMG_DS003662,Hereditary Sensory Radicular Neuropathy | Hereditary Sensory and Autonomic Neuropathies | hereditary sensory neuropathy
BMGC_DS02817,BMG_DS003663,Hurler-Scheie Syndrome | Hurler-Scheie syndrome | Mucopolysaccharidosis I | mucopolysaccharidosis Ih/s
BMGC_DS02818,BMG_DS003664,"Glomerulosclerosis, Focal Segmental | Hyalinosis, Segmental Glomerular"
BMGC_DS02819,BMG_DS003665,Agammaglobulinemia | Hypogammaglobulinaemia | Hypogammaglobulinemia | Hypogammaglobulinemia (finding) | agammaglobulinemia
BMGC_DS02820,BMG_DS003666,"Glomerulonephritis, Membranous | Idiopathic Membranous Glomerulonephritis | idiopathic membranous glomerulonephritis"
BMGC_DS02821,BMG_DS003667,"Dermatitis, Occupational | Industrial Dermatosis"
BMGC_DS02822,BMG_DS003669,"Leishmaniasis, Cutaneous | Leishmaniasis, New World"
BMGC_DS02823,BMG_DS003671,Cataract | Cataract (disorder) | Cataract (morphologic abnormality) | Lens opacity | Lenticular opacity | cataract
BMGC_DS02824,BMG_DS003674,Deficiency -nutritional | Dietary deficiency | Insufficiency - dietary | Kwashiokor | Kwashiorkor | Marasmus | Nutritional deficiencies | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) (disorder) | Protein-Energy Malnutrition | marasmus
BMGC_DS02825,BMG_DS003675,"Mercury Poisoning, Nervous System | Minamata Disease | Minamata disease"
BMGC_DS02826,BMG_DS003676,Mucopolysaccharidosis III | Mucopolysaccharidosis Type IIIA | mucopolysaccharidosis type 3A | mucopolysaccharidosis type IIIA
BMGC_DS02827,BMG_DS003677,Mucopolysaccharidosis III | Mucopolysaccharidosis Type IIIB | mucopolysaccharidosis type 3B | mucopolysaccharidosis type IIIB
BMGC_DS02828,BMG_DS003678,MPS III C | Mucopolysaccharidosis III | mucopolysaccharidosis type 3C | mucopolysaccharidosis type IIIC
BMGC_DS02829,BMG_DS003679,MPS III D | Mucopolysaccharidosis III | mucopolysaccharidosis type 3D | mucopolysaccharidosis type IIID
BMGC_DS02830,BMG_DS003680,"Galactosamine-6-sulfatase deficiency | Galactosamine-6-sulphatase deficiency | Galactose-6-sulfatase deficiency | Galactose-6-sulphatase deficiency | MPS IV-A-Mucopolysaccharidosis IV-A | Morquio A syndrome | Morquio syndrome A | Morquio's syndrome, classic form | Mucopolysaccharidosis IV-A | Mucopolysaccharidosis IV-A (disorder) | Mucopolysaccharidosis, MPS-IV-A | N-acetylgalactosamine-6-sulfatase deficiency | N-acetylgalactosamine-6-sulphatase deficiency | mucopolysaccharidosis IVA | mucopolysaccharidosis type 4A"
BMGC_DS02831,BMG_DS003681,"MPS IV-B - Mucopolysaccharidosis IV-B | Morquio B syndrome | Morquio syndrome B | Morquio-like syndrome | Mucopolysaccharidosis IV-B | Mucopolysaccharidosis type IVB | Mucopolysaccharidosis type IVB (disorder) | Mucopolysaccharidosis, MPS-IV-B | mucopolysaccharidosis type 4B | mucopolysaccharidosis type IVB"
BMGC_DS02832,BMG_DS003682,myelomeningocele
BMGC_DS02833,BMG_DS003683,"Angina, Unstable | Myocardial Preinfarction Syndrome"
BMGC_DS02834,BMG_DS003684,benign neoplasm
BMGC_DS02835,BMG_DS003685,Osteoarthritis | Osteoarthrosis Deformans
BMGC_DS02836,BMG_DS003686,pancreatic cholera
BMGC_DS02837,BMG_DS003687,paroxysmal cold hemoglobinuria | paroxysmal nocturnal hemoglobinuria
BMGC_DS02838,BMG_DS003689,Hurler syndrome | Mucopolysaccharidosis I | Pfaundler-Hurler Syndrome | mucopolysaccharidosis Ih
BMGC_DS02839,BMG_DS003690,Foot Ulcer | Plantar Ulcer
BMGC_DS02840,BMG_DS003691,Alopecia | Alopecia cicatrisata | Alopecia cicatrisata (disorder) | Cicatricial alopecia | Pseudopelade | Pseudopelade (disorder) | Pseudopelade of Brocq | Scarring alopecia | Scarring alopecia due to other specified cause | pseudopelade of Brocq
BMGC_DS02841,BMG_DS003692,IgA Vasculitis | Rheumatoid Purpura
BMGC_DS02842,BMG_DS003696,Sicca Syndrome | Sjogren's Syndrome | Sjogren's syndrome
BMGC_DS02843,BMG_DS003697,"Ataxia, Spinocerebellar | Spinocerebellar Ataxias | autosomal dominant cerebellar ataxia"
BMGC_DS02844,BMG_DS003698,"Arthritis, Juvenile | Juvenile-Onset Still Disease"
BMGC_DS02845,BMG_DS003701,Acute dacryoadenitis | Acute dacryoadenitis (disorder) | acute dacryoadenitis
BMGC_DS02846,BMG_DS003702,Chronic dacryocystitis | Chronic dacryocystitis (disorder) | Chronic inflammation of lacrimal passage | Chronic inflammation of lacrimal passage (& [dacryocystitis]) | Chronic inflammation of lacrimal passage (& [dacryocystitis]) (disorder) | Dacryocystitis - chronic | chronic dacryocystitis
BMGC_DS02847,BMG_DS003703,Orbital Cellulitis | orbital cellulitis
BMGC_DS02848,BMG_DS003705,Acute infection of sinus | Acute inflammation of nasal sinus | Acute inflammation of sinus | Acute sinusitis | Acute sinusitis (disorder) | Sinusitis | Sinusitis (& acute) | Sinusitis (& acute) (disorder) | sinusitis
BMGC_DS02849,BMG_DS003706,Acute tracheitis | Acute tracheitis (disorder) | tracheitis
BMGC_DS02850,BMG_DS003707,Acute bronchitis | Acute bronchitis (& wheezy) | Acute bronchitis (& wheezy) (disorder) | Acute bronchitis (disorder) | Acute chest infections | Acute tracheobronchitis | Acute wheezy bronchitis | Acute: [bronchitis] or [chest infections] or [tracheobronchitis] | Acute: [bronchitis] or [chest infections] or [tracheobronchitis] (disorder) | Bronchitis - acute | Subacute bronchitis | Tracheobronchitis - acute | bronchitis
BMGC_DS02851,BMG_DS003708,Chronic infection of sinus | Chronic sinusitis | Chronic sinusitis (disorder) | chronic rhinosinusitis
BMGC_DS02852,BMG_DS003709,(Chronic tonsillitis) or (chronic adenoiditis) | (Chronic tonsillitis) or (chronic adenoiditis) (disorder) | Chronic adenoiditis | Chronic tonsillitis | Chronic tonsillitis (disorder) | tonsillitis
BMGC_DS02853,BMG_DS003711,"Chronic Persistent Hepatitis | Hepatitis, Chronic | hepatitis"
BMGC_DS02854,BMG_DS003713,"Pancreatitis, Chronic | chronic pancreatitis"
BMGC_DS02855,BMG_DS003715,Acute | Acute cystitis | Acute cystitis (& [recurrent]) | Acute cystitis (& [recurrent]) (disorder) | Acute cystitis (disorder) | Acute recurrent cystitis | Infectious cystitis | Recurrent acute cystitis | acute cystitis
BMGC_DS02856,BMG_DS003717,Calculus of prostate | Calculus of prostate (disorder) | Prostatic lithiasis | Prostatic stone | Stone of prostate | prostate calculus
BMGC_DS02857,BMG_DS003718,Allergic urticaria | Allergic urticaria (disorder) | Drug induced urticaria | Skin disease of unspecified nature | Urticaria: [allergic] or [drug induced] | Urticaria: [allergic] or [drug induced] (disorder) | allergic urticaria
BMGC_DS02858,BMG_DS003719,Congenital heart block | Congenital heart block (disorder) | Other specified structural developmental anomaly of heart or great vessels | congenital heart block
BMGC_DS02859,BMG_DS003721,"Neurogenic Urinary Bladder, Atonic | Urinary Bladder, Neurogenic | obsolete neurogenic bladder"
BMGC_DS02860,BMG_DS003725,cecum carcinoma
BMGC_DS02861,BMG_DS003726,Cervical adenitis | Cervical lymphadenitis | Cervical lymphadenitis (disorder) | cervical adenitis | cervical lymphadenitis
BMGC_DS02862,BMG_DS003728,"Cholesterol Embolism | Embolism, Cholesterol | cholesterol embolism"
BMGC_DS02863,BMG_DS003731,conduct disorder
BMGC_DS02864,BMG_DS003732,Disorder of carbohydrate metabolism | Disorder of carbohydrate metabolism (disorder) | carbohydrate metabolic disorder | carbohydrate metabolism disease
BMGC_DS02865,BMG_DS003733,Epstein-Barr Virus Infections | Epstein-Barr virus infection | Epstein-Barr virus infectious disease
BMGC_DS02866,BMG_DS003735,(Chronic gingivitis) or (gingivostomatitis) | (Chronic gingivitis) or (gingivostomatitis) (disorder) | Chronic gingivitis | Gingivostomatitis | Gingivostomatitis (disorder)
BMGC_DS02867,BMG_DS003736,"Hypertrophy, Left Ventricular | Left Ventricular Hypertrophy"
BMGC_DS02868,BMG_DS003737,Acute lower respiratory tract infection | Chest cold | LRTI - Lower respiratory tract infection | Lower resp tract infection | Lower respiratory infection | Lower respiratory tract infection | Lower respiratory tract infection (disorder) | RTI - Respiratory tract infection | Respiratory tract infection | Respiratory tract infection (& [acute lower] or [lower]) | Respiratory tract infection (& [acute lower] or [lower]) (disorder)
BMGC_DS02869,BMG_DS003738,Oral Ulcer
BMGC_DS02870,BMG_DS003740,"Fasciitis, Plantar | plantar fasciitis"
BMGC_DS02871,BMG_DS003746,Spontaneous pneumothorax | Spontaneous pneumothorax (disorder)
BMGC_DS02872,BMG_DS003747,lung squamous cell carcinoma | squamous cell lung carcinoma
BMGC_DS02873,BMG_DS003754,Adenoidal enlargement | Adenoidal hypertrophy | Enlargement of adenoids | Hypertrophy of adenoids | Hypertrophy of adenoids (disorder) | adenoid hypertrophy
BMGC_DS02874,BMG_DS003760,bronchus adenoma
BMGC_DS02875,BMG_DS003761,Achilles bursitis | Achilles bursitis (disorder) | Achillobursitis | Albert's syndrome | Bursitis of calcaneal tendon bursa | Bursitis of calcaneal tendon bursa (disorder) | Calcaneal osteochondritis | Capped hock | Haglund's deformity | Other specified tenosynovitis | Swediaur's disease
BMGC_DS02876,BMG_DS003766,Croup | Spasmodic Croup
BMGC_DS02877,BMG_DS003767,De Quervain Disease | De Quervain disease | de Quervain disease
BMGC_DS02878,BMG_DS003768,Deep Vein Thrombosis | Venous Thrombosis
BMGC_DS02879,BMG_DS003770,hypoglycemic encephalopathy
BMGC_DS02880,BMG_DS003773,Epididymo-orchitis | Epididymo-orchitis (disorder) | Inflammation of testis and epididymis | Orchitis and epididymitis | Orchitis and epididymitis (disorder) | epididymo-orchitis
BMGC_DS02881,BMG_DS003775,"Seizure, Febrile, Simple | Seizures, Febrile"
BMGC_DS02882,BMG_DS003776,Slipped Capital Femoral Epiphyses | epiphysiolysis of the hip
BMGC_DS02883,BMG_DS003778,Glaucoma due to ocular disease | Secondary glaucoma | Secondary glaucoma (disorder)
BMGC_DS02884,BMG_DS003780,Cholestatic hepatitis | Cholestatic hepatitis (disorder)
BMGC_DS02885,BMG_DS003783,HHM - humoral hypercalcaemia of malignancy | HHM - humoral hypercalcemia of malignancy | Humoral hypercalcemia of malignancy | Humoral hypercalcemia of malignancy (disorder) | Humoural hypercalcaemia of malignancy | Hypercalcaemia of malignancy | Hypercalcemia of malignancy | MAHC - malignancy associated hypercalcaemia | MAHC - malignancy associated hypercalcemia | Malignancy associated hypercalcaemia | Malignancy associated hypercalcemia | Malignant hypercalcaemia | Malignant hypercalcemia | humoral hypercalcemia of malignancy
BMGC_DS02886,BMG_DS003784,Lichen Simplex Chronicus | Neurodermatitis
BMGC_DS02887,BMG_DS003785,lung small cell carcinoma | small cell lung carcinoma
BMGC_DS02888,BMG_DS003787,Migraine Disorders | migraine | migraine disorder
BMGC_DS02889,BMG_DS003788,Obstructive nephropathy | Obstructive nephropathy (disorder) | obstructive nephropathy
BMGC_DS02890,BMG_DS003789,Sciatic Neuropathy | sciatic neuropathy
BMGC_DS02891,BMG_DS003791,Acute otitis externa | Acute otitis externa (disorder) | acute otitis externa
BMGC_DS02892,BMG_DS003792,ovarian fibroma
BMGC_DS02893,BMG_DS003793,annular pancreas
BMGC_DS02894,BMG_DS003799,Gonococcal pharyngitis | Gonorrhea of pharynx | Gonorrhea of pharynx (disorder) | Gonorrhoea of pharynx
BMGC_DS02895,BMG_DS003803,rectum adenocarcinoma
BMGC_DS02896,BMG_DS003806,"Syphilis, secondary | secondary syphilis"
BMGC_DS02897,BMG_DS003816,Chronic Headache | Headache Disorders
BMGC_DS02898,BMG_DS003817,Mononeuritis Multiplex | Mononeuropathies | mononeuritis multiplex
BMGC_DS02899,BMG_DS003818,Cranial nerve palsies | cranial nerve palsy
BMGC_DS02900,BMG_DS003819,Sensory neuropathy | Sensory neuropathy (disorder) | sensory peripheral neuropathy
BMGC_DS02901,BMG_DS003820,Chronic Infection | Persistent Infection
BMGC_DS02902,BMG_DS003822,Active tuberculosis | Active tuberculosis (disorder) | active tuberculosis
BMGC_DS02903,BMG_DS003825,"Vasculitis, Leukocytoclastic, Cutaneous | allergic cutaneous vasculitis | hypersensitivity vasculitis"
BMGC_DS02904,BMG_DS003832,Acute adrenal failure | Acute adrenal insufficiency | Acute adrenal insufficiency (& [Addisonian crisis] or [adrenal crisis]) | Acute adrenal insufficiency (& [Addisonian crisis] or [adrenal crisis]) (disorder) | Acute adrenal insufficiency (disorder) | Acute adrenocortical insufficiency | Addison's disease | Addisonian crisis | Addisonian crisis (disorder) | Adrenal crisis | Adrenocortical crisis | Corticoadrenal insufficiency | Corticoadrenal insufficiency (& Addison's [disease] or [crisis]) | Corticoadrenal insufficiency (& Addison's [disease] or [crisis]) (disorder) | Severe adrenal insufficiency | Severe adrenal insufficiency (disorder) | acute adrenal insufficiency
BMGC_DS02905,BMG_DS003833,thyroid adenoma
BMGC_DS02906,BMG_DS003834,Hypochloraemic alkalosis | Hypochloremic alkalosis | Hypochloremic alkalosis (disorder)
BMGC_DS02907,BMG_DS003835,Folate deficiency anaemia | Folate deficiency anemia | Folic acid deficiency anaemia | Folic acid deficiency anemia | Megaloblastic anaemia due to folate deficiency | Megaloblastic anemia due to folate deficiency | Megaloblastic anemia due to folate deficiency (disorder) | folic acid deficiency anemia
BMGC_DS02908,BMG_DS003837,Atrophic condition of skin | Atrophic condition of skin (disorder) | Atrophic skin | Atrophoderma | Atrophy of skin | Skin atrophy | skin atrophy
BMGC_DS02909,BMG_DS003838,Thyroid Dysgenesis | Thyroid Hypoplasia | thyroid hypoplasia
BMGC_DS02910,BMG_DS003839,CHB - Complete heart block | Complete atrioventricular block | Complete atrioventricular block (disorder) | Complete heart block | High grade atrioventricular block | Third degree atrioventricular block | Third degree heart block | third-degree atrioventricular block
BMGC_DS02911,BMG_DS003841,digestive system carcinoma
BMGC_DS02912,BMG_DS003843,Central nervous system depression | Central nervous system depression (disorder)
BMGC_DS02913,BMG_DS003848,Bloody diarrhea | Bloody diarrhoea | Haemorrhagic diarrhoea | Hemorrhagic diarrhea | Hemorrhagic diarrhea (disorder)
BMGC_DS02914,BMG_DS003849,Hypertensive Encephalopathy | hypertensive encephalopathy
BMGC_DS02915,BMG_DS003850,Endometrial disorder | Endometrial disorder (disorder) | endometrial disease | endometrial disorder
BMGC_DS02916,BMG_DS003852,Premature ventricular contractions
BMGC_DS02917,BMG_DS003853,Fanconi like syndrome | Fanconi-like syndrome
BMGC_DS02918,BMG_DS003854,Renal fibrosis | Renal fibrosis (disorder) | renal fibrosis
BMGC_DS02919,BMG_DS003857,Gastrointestinal perforation | Gastrointestinal perforation (disorder)
BMGC_DS02920,BMG_DS003859,hypoalphalipoproteinemia
BMGC_DS02921,BMG_DS003860,Hypermagnesaemia | Hypermagnesemia | Hypermagnesemia (disorder)
BMGC_DS02922,BMG_DS003861,Hypocholesteraemia | Hypocholesteremia | Hypocholesterolaemia | Hypocholesterolemia | Hypocholesterolemia (disorder)
BMGC_DS02923,BMG_DS003862,"(Hypogonadism: [eunuchoidism] or [testicular]) or (other testicular hypofunction) | (Hypogonadism: [eunuchoidism] or [testicular]) or (other testicular hypofunction) (disorder) | Eunuchoidism | Eunuchoidism hypogonadism | Eunuchoidism, hypogonadism | Male hypogonadism | Male hypogonadism (disorder) | Other testicular hypofunction | Primary gonadal failure | Primary male hypogonadism | Testicular failure | Testicular hypogonadism | Testicular hypogonadism (disorder) | hypogonadism, male"
BMGC_DS02924,BMG_DS003863,Hypomagnesaemia | Hypomagnesemia | Hypomagnesemia (disorder) | familial primary hypomagnesemia
BMGC_DS02925,BMG_DS003864,Hepatic Infarction | hepatic infarction
BMGC_DS02926,BMG_DS003865,intracranial hypertension
BMGC_DS02927,BMG_DS003866,Myocardial Ischemia | coronary artery disease | myocardial ischemia
BMGC_DS02928,BMG_DS003867,Renal tubular disorder | Renal tubular disorder (disorder) | renal tubule disorder
BMGC_DS02929,BMG_DS003868,Bone marrow depression | Bone marrow depression (disorder) | Bone marrow failure | Hypoplasia of bone marrow | Hypoplasia of bone marrow (disorder) | Medullary hypoplasia
BMGC_DS02930,BMG_DS003869,cutaneous melanoma | skin melanoma
BMGC_DS02931,BMG_DS003870,Disease of mucosa | Disease of mucous membrane | Disorder of mucous membrane | Disorder of mucous membrane (disorder) | Mucosal disease | Mucous membrane disorder
BMGC_DS02932,BMG_DS003873,Hepatic necrosis | Hepatic necrosis (disorder) | Liver necrosis
BMGC_DS02933,BMG_DS003874,Coronary Occlusion
BMGC_DS02934,BMG_DS003875,Perforated corneal ulcer | Perforated corneal ulcer (disorder) | perforated corneal ulcer
BMGC_DS02935,BMG_DS003877,Leukocytosis | Pleocytosis | Pleocytosis of cerebrospinal fluid | Pleocytosis of cerebrospinal fluid (finding)
BMGC_DS02936,BMG_DS003880,Haematoporphyrinuria | Hematoporphyrinuria | Pink tooth | Porphyrinuria | Porphyruria | Porphyruria (disorder)
BMGC_DS02937,BMG_DS003881,Disease of pregnancy | Disease of pregnancy (disorder) | Disorder of pregnancy | Disorder of pregnancy (disorder) | placenta disease | pregnancy disorder
BMGC_DS02938,BMG_DS003883,Fungal infection of lung | Fungal infection of lung (disorder) | Pulmonary mycosis
BMGC_DS02939,BMG_DS003885,hyperreflexia
BMGC_DS02940,BMG_DS003888,Hypocalcaemic tetany | Hypocalcemic tetany | Hypocalcemic tetany (disorder)
BMGC_DS02941,BMG_DS003889,Cerebral vein thrombosis | Cerebral venous thrombosis | Thrombosis of cerebral veins | Thrombosis of cerebral veins (disorder)
BMGC_DS02942,BMG_DS003895,"Esophageal ulcer | OU - Esophageal ulcer | OU - Oesophageal ulcer | Oesophageal ulcer | Oesophageal ulcer, unspecified | Peptic ulcer of esophagus | Peptic ulcer of oesophagus | Peptic ulceration of esophagus | Peptic ulceration of oesophagus | Ulcer of esophagus | Ulcer of esophagus (disorder) | Ulcer of oesophagus | Ulcer of oesophagus (disorder) | esophageal ulcer"
BMGC_DS02943,BMG_DS003896,Ulceration of intestine | Ulceration of intestine (disorder)
BMGC_DS02944,BMG_DS003900,lung adenocarcinoma
BMGC_DS02945,BMG_DS003902,carcinoma of esophagus | esophageal carcinoma
BMGC_DS02946,BMG_DS003903,Gastric atony | Gastric stasis | Gastroparesis | Gastroparesis (disorder) | Gastroparesis syndrome | gastroparesis
BMGC_DS02947,BMG_DS003904,congenital heart disease
BMGC_DS02948,BMG_DS003906,Acquired polyneuropathy | Neuropathy: [peripheral] or [polyneuropathy] | Neuropathy: [peripheral] or [polyneuropathy] (disorder) | Peripheral neuropathy | Polyneuropathies | Polyneuropathy | Polyneuropathy (disorder) | Polyneuropathy (multiple nerve disorder) | polyneuropathy
BMGC_DS02949,BMG_DS003907,Retinal Vasculitis | retinal vasculitis
BMGC_DS02950,BMG_DS003908,Sensation Disorders | Sensory Disorders
BMGC_DS02951,BMG_DS003910,Borrelia recurrentis Infection | Relapsing Fever | louse-borne relapsing fever
BMGC_DS02952,BMG_DS003913,Cheloidal blastomycosis | Cutaneous lobomycosis | Infection by Loboa loboii | Infection by Paracoccidioides loboii | Keloidal blastomycosis | Lobo's disease | Lobomycosis | Lobomycosis (disorder) | Lobomycosis infection | lobomycosis
BMGC_DS02953,BMG_DS003914,tinea nigra
BMGC_DS02954,BMG_DS003915,Echinococcus granulosus infection | Echinococcus granulosus infection (disorder) | Unilocular hydatid disease | cystic echinococcosis | echinococcus granulosus infectious disease
BMGC_DS02955,BMG_DS003916,Alveolar hydatid disease | Echinococcus multilocularis infection | Echinococcus multilocularis infection (disorder) | alveolar echinococcosis
BMGC_DS02956,BMG_DS003918,Heterophyes heterophyes infection | Heterophyiasis | Heterophyosis | Infection by Heterophyes heterophyes | Infection caused by Heterophyes heterophyes | Infection caused by Heterophyes heterophyes (disorder) | heterophyiasis
BMGC_DS02957,BMG_DS003919,Malaria by Plasmodium ovale | Ovale malaria | Ovale malaria (disorder) | Ovale tertian malaria | Plasmodium ovale malaria
BMGC_DS02958,BMG_DS003920,Beef tapeworm infection | Infection by Taenia saginata | Taenia saginata infection | Taenia saginata infection (disorder) | Taenia saginata taeniasis | Unarmed tapeworm infection | taeniasis
BMGC_DS02959,BMG_DS003922,Dyshormonogenic goiter | Dyshormonogenic goiter (disorder) | Dyshormonogenic goitre | dyshormonogenic goiter
BMGC_DS02960,BMG_DS003923,Congestion-fibrosis syndrome | Pelvic congestion | Pelvic congestion syndrome | Pelvic congestion syndrome (disorder) | Taylor syndrome | Taylor's syndrome
BMGC_DS02961,BMG_DS003924,Allen-Masters syndrome | Broad ligament laceration syndrome | Broad ligament laceration syndrome (disorder) | Ligamentum latum laceration syndrome | Masters-Allen syndrome
BMGC_DS02962,BMG_DS003925,Pustular psoriasis | Pustular psoriasis (disorder) | pustular psoriasis
BMGC_DS02963,BMG_DS003926,Certain specified inflammatory arthropathies | Transient arthropathy | Transient arthropathy (disorder) | transient arthritis | transient arthropathy
BMGC_DS02964,BMG_DS003927,Chronic post - rheumatic arthropathy | Chronic postrheumatic arthropathy | Jaccoud syndrome | Jaccoud's arthritis | Jaccoud's disease | Jaccoud's syndrome | Jaccoud's syndrome (disorder) | Non-deforming erosive arthropathy
BMGC_DS02965,BMG_DS003928,reactive arthritis
BMGC_DS02966,BMG_DS003930,Kummell disease | Kummell's disease | Kummell's spondylitis | Kummell-Verneuil disease | Kümmell disease | Kümmell disease (disorder) | Kümmell's spondylitis | Kümmell-Verneuil disease | Traumatic spondylopathy | Traumatic spondylopathy (disorder)
BMGC_DS02967,BMG_DS003934,Juvenile dermatitis herpetiformis | Juvenile dermatitis herpetiformis (disorder) | Juvenile pemphigoid | Juvenile: [dermatitis herpetiformis] or [pemphigoid] | Juvenile: [dermatitis herpetiformis] or [pemphigoid] (disorder) | Linear IgA bullous dermatosis | juvenile dermatitis herpetiformis
BMGC_DS02968,BMG_DS003935,Familial ligamentous laxity | Hypermobility syndrome | Hypermobility syndrome (disorder) | Other specified types of EhlersDanlos syndrome | hypermobility syndrome
BMGC_DS02969,BMG_DS003936,Congenital thymic dysplasia syndrome | Immunodeficiency due to defects of the thymus | Nezelof syndrome | Nezelof's syndrome | Nezelof's syndrome (disorder)
BMGC_DS02970,BMG_DS003937,Complete trisomy 13 syndrome | Complete trisomy 13 syndrome (disorder) | D>1< trisomy syndrome | Patau syndrome | trisomy 13
BMGC_DS02971,BMG_DS003939,Diaphragmatic disease | Diaphragmatic disorder | Disease of diaphragm | Disorder of diaphragm | Disorder of diaphragm (disorder) | diaphragm disease | diaphragm disorder
BMGC_DS02972,BMG_DS003940,Postcholecystectomy Syndrome | postcholecystectomy syndrome
BMGC_DS02973,BMG_DS003941,Hypoplastic Left Heart Syndrome | hypoplastic left heart syndrome
BMGC_DS02974,BMG_DS003942,Kyphoscoliotic heart disease | Kyphoscoliotic heart disease (disorder) | Other specified diseases of the circulatory system | kyphoscoliotic heart disease
BMGC_DS02975,BMG_DS003943,HHD - hypertensive heart disease | Hypertensive cardiopathy | Hypertensive cardiovascular disease | Hypertensive heart disease | Hypertensive heart disease (disorder) | hypertensive heart disease
BMGC_DS02976,BMG_DS003944,Dressler syndrome | Dressler's syndrome | Post-myocardial infarction syndrome | Postmyocardial infarction syndrome | Postmyocardial infarction syndrome (disorder)
BMGC_DS02977,BMG_DS003945,Cork-handlers' disease | Cork-handlers' hypersensitivity pneumonitis | Cork-handlers' lung | Suberosis | Suberosis (disorder) | cork-handlers' disease
BMGC_DS02978,BMG_DS003946,"Juvenile Spinal Muscular Atrophy | Spinal Muscular Atrophies of Childhood | juvenile spinal muscular atrophy | spinal muscular atrophy, type III"
BMGC_DS02979,BMG_DS003948,Foster-Kennedy Syndrome | Foster-Kennedy syndrome | Optic Nerve Diseases
BMGC_DS02980,BMG_DS003949,Chorea | Rheumatic Chorea | Sydenham chorea
BMGC_DS02981,BMG_DS003950,Dyskinesias | Lingual-Facial-Buccal Dyskinesia | lingual-facial-buccal dyskinesia
BMGC_DS02982,BMG_DS003951,cervical dystonia
BMGC_DS02983,BMG_DS003953,Drug withdrawal | Drug withdrawal (disorder) | Drug withdrawal syndrome | Drug withdrawal syndrome (disorder)
BMGC_DS02984,BMG_DS003954,Foveomacular Retinitis | Solar Retinitis | solar retinopathy
BMGC_DS02985,BMG_DS003955,Hypertensive Retinopathy | hypertensive retinopathy
BMGC_DS02986,BMG_DS003956,Internuclear Ophthalmoplegia | Ocular Motility Disorders | internuclear ophthalmoplegia
BMGC_DS02987,BMG_DS003957,Exophthalmic ophthalmoplegia | Exophthalmic ophthalmoplegia (disorder) | exophthalmic ophthalmoplegia
BMGC_DS02988,BMG_DS003958,Low Tension Glaucoma | low tension glaucoma
BMGC_DS02989,BMG_DS003959,Phacolytic glaucoma | Phacolytic glaucoma (disorder) | phacolytic glaucoma
BMGC_DS02990,BMG_DS003960,Glaucomatocyclitic crisis | Glaucomatocyclitic crisis (disorder) | Posner-Schlossman syndrome | Terrien-Viel syndrome | glaucomatocyclitic crisis
BMGC_DS02991,BMG_DS003962,Pylorospasm | Pylorospasm (disorder) | pylorospasm
BMGC_DS02992,BMG_DS003963,Cyclical vomiting | Cyclical vomiting syndrome | Cyclical vomiting syndrome (disorder) | Periodic vomiting | Periodic vomiting syndrome | cyclic vomiting syndrome
BMGC_DS02993,BMG_DS003964,Pancreatic steatorrhea | Pancreatic steatorrhea (disorder) | Pancreatic steatorrhoea | Pancreatic steatorrhoea (disorder) | pancreatic steatorrhea
BMGC_DS02994,BMG_DS003965,Anal spasm | Anal spasm (disorder) | anal spasm
BMGC_DS02995,BMG_DS003967,Essential pulmonary hypertension | Idiopathic pulmonary hypertension | PPHT - Primary pulmonary hypertension | Primary pulmonary hypertension | Primary pulmonary hypertension (disorder) | primary pulmonary hypertension
BMGC_DS02996,BMG_DS003971,Vagus Nerve Diseases | Vagus Nerve Disorder | Vagus nerve disease | vagus nerve disorder
BMGC_DS02997,BMG_DS003972,accessory nerve disease | accessory nerve disorder
BMGC_DS02998,BMG_DS003973,hypoglossal nerve disease | hypoglossal nerve disorder
BMGC_DS02999,BMG_DS003974,intermittent explosive disorder
BMGC_DS03000,BMG_DS003976,Amblyopia ex anopsia | Deprivation amblyopia | Disuse amblyopia | Stimulus deprivation amblyopia | Stimulus deprivation amblyopia (disorder) | deprivation amblyopia | disuse amblyopia
BMGC_DS03001,BMG_DS003977,Ametropic amblyopia | Meridional amblyopia | Refractive amblyopia | Refractive amblyopia (disorder) | ametropic amblyopia | refractive amblyopia
BMGC_DS03002,BMG_DS003978,scotoma
BMGC_DS03003,BMG_DS003979,Regular astigmatism | Regular astigmatism (disorder) | regular astigmatism
BMGC_DS03004,BMG_DS003980,Irregular astigmatism | Irregular astigmatism (disorder) | irregular astigmatism
BMGC_DS03005,BMG_DS003981,Ciliary muscle spasm | Spasm of accommodation | Spasm of accommodation (disorder) | accommodative spasm
BMGC_DS03006,BMG_DS003982,Complete internal ophthalmoplegia | Total internal ophthalmoplegia | Total internal ophthalmoplegia (disorder) | total internal ophthalmoplegia
BMGC_DS03007,BMG_DS003983,Disorder of accommodation | Disorder of accommodation (disorder) | eye accommodation disease
BMGC_DS03008,BMG_DS003984,Achromatism | Achromatopsia | Achromatopsia (disorder) | Color Vision Defects | Monochromatism | achromatopsia
BMGC_DS03009,BMG_DS003985,acquired night blindness
BMGC_DS03010,BMG_DS003986,"Strabismus | Strabismus, Comitant"
BMGC_DS03011,BMG_DS003987,Esotropia | Monocular Esotropia | monocular esotropia
BMGC_DS03012,BMG_DS003988,Alternating esotropia | Alternating esotropia (disorder) | alternating esotropia
BMGC_DS03013,BMG_DS003989,Exotropia | Monocular Exotropia | monocular exotropia
BMGC_DS03014,BMG_DS003990,Alternating Exotropia | Exotropia | alternating exotropia
BMGC_DS03015,BMG_DS003991,Hypotropia | Hypotropia (disorder) | hyop - Hypotropia | hypotropia
BMGC_DS03016,BMG_DS003992,cyclotropia
BMGC_DS03017,BMG_DS003993,Intermittent squint | Intermittent tropia | Intermittent tropia (disorder) | intermittent squint
BMGC_DS03018,BMG_DS003998,(Esophoria) or (strabismus NOS) or (ophthalmoplegia NOS) | (Esophoria) or (strabismus NOS) or (ophthalmoplegia NOS) (disorder) | Esophoria | Esophoria (disorder) | Esotropia | Latent convergent squint | Ophthalmoplegia NOS | Strabismus NOS
BMGC_DS03019,BMG_DS004001,Cyclophoria | Cyclophoria (disorder) | Ocular Motility Disorders
BMGC_DS03020,BMG_DS004003,Incomitant dissociation | Incomitant dissociation (disorder) | Non-comitant strabismus | Paralytic squint | Paralytic strabismus | Paralytic strabismus (disorder) | paralytic squint | paralytic strabismus
BMGC_DS03021,BMG_DS004004,Ocular Motility Disorders | Parinaud Syndrome | Parinaud syndrome
BMGC_DS03022,BMG_DS004005,Mechanical Strabismus | Strabismus | mechanical strabismus
BMGC_DS03023,BMG_DS004008,"Defective lid closure | Lagophthalmos | Lagophthalmos (disorder) | Lagophthalmos (finding) | Lagophthalmos, unspecified | Poor closure eyelids | lagophthalmos"
BMGC_DS03024,BMG_DS004009,Crocodile tears | Excessive tear production | Excessive tear production (disorder) | Excessive tearing | Illacrimation | Tearing eyes | Watering eye | Watery eyes | excessive tearing
BMGC_DS03025,BMG_DS004015,septate uterus
BMGC_DS03026,BMG_DS004016,lactocele
BMGC_DS03027,BMG_DS004019,Acne frontalis | Acne varioliformis | Acne varioliformis (disorder) | Other specified acneform inflammatory disorders | acne
BMGC_DS03028,BMG_DS004020,Migratory thrombophlebitis | Thrombophlebitis migrans | Thrombophlebitis migrans (disorder) | Trousseau's syndrome | thrombophlebitis migrans
BMGC_DS03029,BMG_DS004023,Posterior synechiae | Posterior synechiae (disorder)
BMGC_DS03030,BMG_DS004024,(Disorders of conjunctiva NOS) or (chemosis) or (pinguecula) or (symblepharon) | (Disorders of conjunctiva NOS) or (chemosis) or (pinguecula) or (symblepharon) (disorder) | Chemosis of conjunctiva | Disorders of conjunctiva NOS | Pinguecula | Pinguecula (disorder) | Pinguicula | Symblepharon | pinguecula
BMGC_DS03031,BMG_DS004026,mature cataract
BMGC_DS03032,BMG_DS004027,Morgagni cataract | Morgagnian cataract | Morgagnian cataract (disorder) | Morgagnian cataract (finding)
BMGC_DS03033,BMG_DS004029,Cystitis cystica | Cystitis cystica (disorder) | cystitis cystica
BMGC_DS03034,BMG_DS004031,(Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) (disorder) | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinemia) | Erythrocytosis - familial | Familial erythrocytosis | Familial erythrocytosis (disorder) | Familial polycythaemia | Familial polycythemia | Hereditary pure erythrocytosis | Hypergammaglobulinaemia | Hypergammaglobulinemia | Other blood diseases | Primary inherited erythrocytosis | familial erythrocytosis 1 | familial polycythemia | primary polycythemia
BMGC_DS03035,BMG_DS004032,"Hodgkin's lymphoma, mixed cellularity"
BMGC_DS03036,BMG_DS004033,"Hodgkin's lymphoma, lymphocytic depletion"
BMGC_DS03037,BMG_DS004034,"Hodgkin's lymphoma, nodular sclerosis | nodular sclerosis classical Hodgkin lymphoma"
BMGC_DS03038,BMG_DS004035,polycythemia vera
BMGC_DS03039,BMG_DS004036,subacute monocytic leukemia
BMGC_DS03040,BMG_DS004037,granulocytic sarcoma | myeloid sarcoma
BMGC_DS03041,BMG_DS004039,ankyloglossia
BMGC_DS03042,BMG_DS004040,aortic valve stenosis | congenital aortic valve stenosis
BMGC_DS03043,BMG_DS004041,aortic arch interruption
BMGC_DS03044,BMG_DS004042,congenital aphakia
BMGC_DS03045,BMG_DS004043,craniorachischisis
BMGC_DS03046,BMG_DS004044,polydactyly
BMGC_DS03047,BMG_DS004047,Sprengel deformity
BMGC_DS03048,BMG_DS004048,RS - Retinoschisis | Retinoschisis | Retinoschisis (disorder) | Schisis of retina | retinoschisis
BMGC_DS03049,BMG_DS004049,Corneal staphyloma | Corneal staphyloma (disorder) | corneal staphyloma
BMGC_DS03050,BMG_DS004052,Urethral diverticulum | Urethral diverticulum (disorder) | urethral diverticulum
BMGC_DS03051,BMG_DS004054,(Mucocele of gallbladder) or (hydrops of gallbladder) | Hydrops of gallbladder | Hydrops of gallbladder (disorder) | Mucocele of gallbladder | hydrops of gallbladder
BMGC_DS03052,BMG_DS004056,(Chronic glomerulonephritis) or (nephritis - chronic) | (Chronic glomerulonephritis) or (nephritis - chronic) (disorder) | CGN - Chronic glomerulonephritis | Chronic glomerulonephritis | Chronic glomerulonephritis (disorder) | Chronic nephropathy (& [glomerulonephritis] or [nephritis]) | Chronic nephropathy (& [glomerulonephritis] or [nephritis]) (disorder) | Glomeruloneph.- chronic | Nephritis - chronic | Nephropathy - chronic
BMGC_DS03053,BMG_DS004057,Adherent pericardium | Adhesive pericarditis | Adhesive pericarditis (disorder) | Fibrosis of pericardium | Fibrosis of pericardium (disorder)
BMGC_DS03054,BMG_DS004059,Keratomalacia | Keratomalacia (disorder) | keratomalacia
BMGC_DS03055,BMG_DS004060,Cholesterolosis of gallbladder | Cholesterolosis of gallbladder (disorder) | Gallbladder cholesterolosis | Strawberry gallbladder | cholesterolosis of gallbladder | strawberry gallbladder
BMGC_DS03056,BMG_DS004061,Kayser-Fleischer ring | Kayser-Fleischer ring (disorder)
BMGC_DS03057,BMG_DS004062,Leucocoria | Leukocoria | Leukocoria (disorder) | leukocoria
BMGC_DS03058,BMG_DS004063,(Peyronie's disease) or (balanitis xerotica obliterans) | (Peyronie's disease) or (balanitis xerotica obliterans) (disorder) | BXO - Balanitis xerotica obliterans | Balanitis xerotica obliterans | Balanitis xerotica obliterans (disorder) | Lichen sclerosus et atrophicus of glans penis AND prepuce | Lichen sclerosus et atrophicus of glans penis AND prepuce (disorder) | Lichen sclerosus of glans penis | Peyronie's disease | balanitis xerotica obliterans
BMGC_DS03059,BMG_DS004065,Bacterial infection of unspecified site | Salmonella sepsis
BMGC_DS03060,BMG_DS004072,Acute amebiasis | Acute amebiasis (disorder) | Acute amoebiasis
BMGC_DS03061,BMG_DS004073,"Chronic amebiasis | Chronic amebiasis (disorder) | Chronic amebic dysentery | Chronic amoebiasis | Chronic amoebic dysentery | Chronic intestinal amebiasis | Chronic intestinal amebiasis (disorder) | Chronic intestinal amoebiasis | Intestinal infections due to Entamoeba, unspecified"
BMGC_DS03062,BMG_DS004079,"Other specified protozoal intestinal diseases | Other specified protozoal intestinal diseases (disorder) | Protozoal intestinal infections, unspecified | protozoal dysentery"
BMGC_DS03063,BMG_DS004080,Intestinal infection caused by Pseudomonas | Intestinal infection caused by Pseudomonas (disorder)
BMGC_DS03064,BMG_DS004081,Bacterial enteritis | Bacterial enteritis of intestine | Inflammation of intestine caused by bacteria | Inflammation of intestine caused by bacteria (disorder) | Septic enteritis
BMGC_DS03065,BMG_DS004082,(Epidemic diarrhea) or (viral gastroenteritis) | (Epidemic diarrhoea) or (viral gastroenteritis) | (Epidemic diarrhoea) or (viral gastroenteritis) (disorder) | Diarrhea-viral GIT inf | Diarrhoea-viral GIT inf | Epidemic diarrhea | Epidemic diarrhoea | Gastroent. - viral | Nonbacterial gastroenteritis | Nonbacterial gastroenteritis (disorder) | Viral + ill-defined GIT inf. | Viral and ill-defined gastrointestinal infections | Viral diarrhea | Viral diarrhoea | Viral gastroenteritis | Viral gastroenteritis (disorder) | Viral vomiting | Viral: [ill-defined GIT infections (& diarrhea)] or [gastroenteritis] | Viral: [ill-defined GIT infections (& diarrhoea)] or [gastroenteritis] | Viral: [ill-defined GIT infections (& diarrhoea)] or [gastroenteritis] (disorder)
BMGC_DS03066,BMG_DS004086,Primary progressive tuberculosis with tuberculous pleurisy | Tuberculous pleurisy in primary progressive tuberculosis | Tuberculous pleurisy in primary progressive tuberculosis (disorder) | pleural tuberculosis
BMGC_DS03067,BMG_DS004094,"Respiratory tuberculosis, confirmed | Tuberculous pneumothorax | Tuberculous pneumothorax (disorder) | tuberculous pneumothorax"
BMGC_DS03068,BMG_DS004102,intestinal tuberculosis
BMGC_DS03069,BMG_DS004107,TB (tuberculosis) of urinary bladder | Tuberculosis of bladder | Tuberculosis of urinary bladder | Tuberculosis of urinary bladder (disorder) | bladder tuberculosis | urinary bladder tuberculosis
BMGC_DS03070,BMG_DS004108,TB - Tuberculosis of ureter | Tuberculosis of ureter | Tuberculosis of ureter (disorder) | ureter tuberculosis
BMGC_DS03071,BMG_DS004109,Tuberculosis of epididymis | Tuberculosis of epididymis (disorder) | Tuberculous epididymitis | tuberculous epididymitis
BMGC_DS03072,BMG_DS004111,Tuberculous oophoritis and salpingitis | tuberculous oophoritis | tuberculous salpingitis
BMGC_DS03073,BMG_DS004114,Tuberculosis of ear | Tuberculosis of ear (disorder)
BMGC_DS03074,BMG_DS004117,Tuberculosis of esophagus | Tuberculosis of esophagus (disorder) | Tuberculosis of oesophagus | esophageal tuberculosis
BMGC_DS03075,BMG_DS004120,Plague | Septicemic Plague | septicemic plague
BMGC_DS03076,BMG_DS004121,Primary pneumonic plague | Primary pneumonic plague (disorder) | pneumonic plague
BMGC_DS03077,BMG_DS004122,Secondary pneumonic plague | Secondary pneumonic plague (disorder) | pneumonic plague
BMGC_DS03078,BMG_DS004123,Ulceroglandular tularaemia | Ulceroglandular tularemia | Ulceroglandular tularemia (disorder) | ulceroglandular tularemia
BMGC_DS03079,BMG_DS004124,Cryptogenic tularaemia | Cryptogenic tularemia | Enteric tularaemia | Enteric tularemia | Enteric tularemia (disorder) | Intestinal tularaemia | Intestinal tularemia | Oropharyngeal tularaemia | Oropharyngeal tularemia | Typhoidal tularaemia | Typhoidal tularemia | Typhoidal tularemia (disorder) | gastrointestinal tularemia
BMGC_DS03080,BMG_DS004125,Oculoglandular tularaemia | Oculoglandular tularemia | Oculoglandular tularemia (disorder) | Other specified tularaemia | oculoglandular tularemia
BMGC_DS03081,BMG_DS004126,Anthrax | Gastrointestinal anthrax | Gastrointestinal anthrax (disorder) | gastrointestinal anthrax
BMGC_DS03082,BMG_DS004127,Anthrax | Anthrax sepsis
BMGC_DS03083,BMG_DS004129,Diphtheritic myocarditis | Diphtheritic myocarditis (disorder) | diphtheritic myocarditis
BMGC_DS03084,BMG_DS004130,Diphtheritic peritonitis | Diphtheritic peritonitis (disorder) | diphtheritic peritonitis
BMGC_DS03085,BMG_DS004131,Cystitis in diphtheria | Diphtheritic cystitis | Diphtheritic cystitis (disorder) | diphtheritic cystitis
BMGC_DS03086,BMG_DS004138,Streptococcal sepsis
BMGC_DS03087,BMG_DS004140,Anaerobic septicaemia | Anaerobic septicemia | Anaerobic septicemia (disorder) | Septicaemia due to anaerobes | Septicemia due to anaerobes
BMGC_DS03088,BMG_DS004143,"Acute non-paralytic poliomyelitis | Acute nonparalytic poliomyelitis | Acute nonparalytic poliomyelitis (disorder) | Acute poliomyelitis | Anterior acute poliomyelitis specified as nonparalytic | Anterior acute poliomyelitis, nonparalytic | Epidemic acute poliomyelitis specified as non paralytic | Epidemic acute poliomyelitis, non paralytic | acute nonparalytic poliomyelitis | nonparalytic poliomyelitis"
BMGC_DS03089,BMG_DS004153,Herpes zoster keratoconjunctivitis | Herpes zoster keratoconjunctivitis (disorder) | Herpes zoster with keratoconjunctivitis
BMGC_DS03090,BMG_DS004158,Herpes simplex dermatitis of eyelid | Herpes simplex eyelid dermatitis | Herpes simplex eyelid dermatitis (disorder) | eczema herpeticum
BMGC_DS03091,BMG_DS004161,Herpes simplex whitlow | Herpetic felon | Herpetic whitlow | Herpetic whitlow (disorder) | herpetic whitlow
BMGC_DS03092,BMG_DS004176,"Encephalomyelitis, Western Equine | Western equine encephalitis | western equine encephalitis"
BMGC_DS03093,BMG_DS004177,"Eastern equine encephalitis | Encephalomyelitis, Eastern Equine | eastern equine encephalitis"
BMGC_DS03094,BMG_DS004178,Australian X disease | Australian arboencephalitis | Australian encephalitis | MVE - Murray Valley encephalitis | Murray River encephalitis | Murray Valley encephalitis | Murray Valley encephalitis (disorder) | Murray valley encephalitis
BMGC_DS03095,BMG_DS004201,"Trachoma dubium | Trachoma dubium - initial stage | Trachoma, initial stage | Trachoma, initial stage (disorder) | trachoma"
BMGC_DS03096,BMG_DS004202,"Trachoma, active stage | Trachoma, active stage (disorder) | trachoma"
BMGC_DS03097,BMG_DS004205,Acute Peripheral Vestibulopathy | Vestibular Neuronitis
BMGC_DS03098,BMG_DS004211,Malaria by more than one parasite | Mixed malaria | Mixed malaria (disorder) | mixed malaria
BMGC_DS03099,BMG_DS004217,"Neurosyphilis | Neurosyphilis, Juvenile | late congenital syphilis"
BMGC_DS03100,BMG_DS004220,late congenital syphilis
BMGC_DS03101,BMG_DS004221,Early symptomatic syphilis | Early symptomatic syphilis (disorder) | primary syphilis
BMGC_DS03102,BMG_DS004238,Syphilitic aseptic meningitis | syphilitic meningitis
BMGC_DS03103,BMG_DS004239,"Neurosyphilis | Neurosyphilis, Asymptomatic | asymptomatic neurosyphilis"
BMGC_DS03104,BMG_DS004240,Syphilitic encephalitis | Syphilitic encephalitis (disorder) | syphilitic encephalitis
BMGC_DS03105,BMG_DS004255,"Syphilis, tertiary | tertiary syphilis"
BMGC_DS03106,BMG_DS004256,Acute gonococcal cystitis | Acute gonococcal cystitis (disorder) | Bladder gonorrhea - acute | Bladder gonorrhoea - acute | acute gonococcal cystitis
BMGC_DS03107,BMG_DS004257,Acute gonococcal prostatitis | Acute gonococcal prostatitis (disorder) | acute gonococcal prostatitis
BMGC_DS03108,BMG_DS004258,Acute gonococcal epididymo-orchitis | Acute gonococcal epididymo-orchitis (disorder) | Acute gonococcal orchitis | Acute gonococcal: [epididymo-orchitis] or [orchitis] | Acute gonococcal: [epididymo-orchitis] or [orchitis] (disorder) | acute gonococcal epididymo-orchitis
BMGC_DS03109,BMG_DS004260,Acute gonococcal cervicitis | Acute inflammation of cervix uteri caused by Neisseria gonorrhoeae | Acute inflammation of cervix uteri caused by Neisseria gonorrhoeae (disorder) | acute gonococcal cervicitis
BMGC_DS03110,BMG_DS004261,Acute gonococcal endometritis | Acute gonococcal endometritis (disorder) | Uterus - acute gonorrhea | Uterus - acute gonorrhoea | acute gonococcal endometritis
BMGC_DS03111,BMG_DS004265,Chronic gonococcal seminal vesiculitis | Chronic gonococcal seminal vesiculitis (disorder) | seminal vesicle chronic gonorrhea
BMGC_DS03112,BMG_DS004266,Chronic gonococcal cervicitis | Chronic inflammation of cervix uteri caused by Neisseria gonorrhoeae | Chronic inflammation of cervix uteri caused by Neisseria gonorrhoeae (disorder) | chronic gonorrhea of cervix
BMGC_DS03113,BMG_DS004268,Chronic gonococcal salpingitis | Chronic gonococcal salpingitis (disorder) | chronic gonococcal salpingitis
BMGC_DS03114,BMG_DS004270,Gonococcal iridocyclitis | Gonococcal iridocyclitis (disorder) | gonococcal iridocyclitis
BMGC_DS03115,BMG_DS004271,Gonococcal endophthalmia | Gonococcal endophthalmia (disorder) | gonococcal endophthalmia
BMGC_DS03116,BMG_DS004272,Gonococcal keratitis | Gonococcal keratitis (disorder) | Keratitis blennorrhagica | gonococcal keratitis
BMGC_DS03117,BMG_DS004274,Gonococcal arthritis | Gonococcal infection of joint | Gonococcal infection of joint (disorder) | Gonococcal joint infection | Gonococcal rheumatism | gonococcal infection of joint
BMGC_DS03118,BMG_DS004275,Bursitis caused by Neisseria gonorrhoeae | Bursitis caused by Neisseria gonorrhoeae (disorder) | Gonococcal bursitis | Gonococcal bursitis (disorder) | gonococcal bursitis
BMGC_DS03119,BMG_DS004276,Gonococcal spondylitis | Gonococcal spondylitis (disorder) | gonococcal spondylitis
BMGC_DS03120,BMG_DS004279,Gonococcal meningitis | Gonococcal meningitis (disorder) | Meningitis due to gonococcus
BMGC_DS03121,BMG_DS004281,Endocarditis - gonococcal | Gonococcal endocarditis | Gonococcal endocarditis (disorder)
BMGC_DS03122,BMG_DS004285,Multiple papillomata and wet crab yaws | Secondary yaws | late yaws
BMGC_DS03123,BMG_DS004288,Latent yaws | Latent yaws (disorder) | latent yaws
BMGC_DS03124,BMG_DS004294,tinea manus | tinea manuum
BMGC_DS03125,BMG_DS004295,Black piedra | Black piedra (disorder) | Piedra due to Piedraia hortae | black piedra
BMGC_DS03126,BMG_DS004298,Disseminated candida | Disseminated candidiasis | Disseminated candidiasis (disorder) | Disseminated candidosis | Invasive candidiasis | Systemic candidiasis | disseminated candidiasis
BMGC_DS03127,BMG_DS004300,Candidal endocarditis | Candidal endocarditis (disorder)
BMGC_DS03128,BMG_DS004302,Candida meningitis | Candidal meningitis | Candidal meningitis (disorder)
BMGC_DS03129,BMG_DS004303,Coccidioidal pneumonitis | Coccidioidomycotic pneumonitis | Desert rheumatism | Primary pulmonary coccidioidomycosis | Primary pulmonary coccidioidomycosis (disorder) | San Joaquin Valley fever
BMGC_DS03130,BMG_DS004305,American histoplasmosis | Histoplasma capsulatum Infection | Histoplasmosis
BMGC_DS03131,BMG_DS004309,African histoplasmosis
BMGC_DS03132,BMG_DS004314,histoplasmosis meningitis
BMGC_DS03133,BMG_DS004315,Histoplasmosis with retinitis | Histoplasmosis with retinitis (disorder) | histoplasmosis retinitis
BMGC_DS03134,BMG_DS004316,Histoplasma pericarditis | Histoplasmosis with pericarditis | Histoplasmosis with pericarditis (disorder) | histoplasmosis pericarditis
BMGC_DS03135,BMG_DS004319,Echinococcus granulosus infection of liver | Echinococcus granulosus infection of liver (disorder) | Echinococcus infection of liver
BMGC_DS03136,BMG_DS004320,Echinococcus granulosus infection of lung | Echinococcus granulosus infection of lung (disorder) | Echinococcus granulosus lung infection | Echinococcus granulosus pulmonary infection | Echinococcus infection of lung
BMGC_DS03137,BMG_DS004327,Mixed intestinal helminthiasis | Mixed intestinal infection caused by Cestoda and/or Trematoda and/or Phylum Nemata | Mixed intestinal infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda | Mixed intestinal infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda (disorder)
BMGC_DS03138,BMG_DS004341,lip cancer
BMGC_DS03139,BMG_DS004342,lip cancer
BMGC_DS03140,BMG_DS004343,lip cancer
BMGC_DS03141,BMG_DS004344,tongue cancer
BMGC_DS03142,BMG_DS004345,tongue cancer
BMGC_DS03143,BMG_DS004346,tongue cancer
BMGC_DS03144,BMG_DS004347,tongue cancer
BMGC_DS03145,BMG_DS004348,submandibular gland cancer
BMGC_DS03146,BMG_DS004349,sublingual gland cancer
BMGC_DS03147,BMG_DS004350,salivary gland cancer
BMGC_DS03148,BMG_DS004351,gingival cancer | gum cancer
BMGC_DS03149,BMG_DS004352,upper gum cancer
BMGC_DS03150,BMG_DS004353,malignant tumor of floor of mouth | oral cavity cancer
BMGC_DS03151,BMG_DS004354,oral cavity cancer
BMGC_DS03152,BMG_DS004355,cheek mucosa cancer
BMGC_DS03153,BMG_DS004356,vestibule of mouth cancer
BMGC_DS03154,BMG_DS004357,hard palate cancer
BMGC_DS03155,BMG_DS004358,soft palate cancer
BMGC_DS03156,BMG_DS004359,uvula cancer
BMGC_DS03157,BMG_DS004360,retromolar area cancer
BMGC_DS03158,BMG_DS004362,oropharynx cancer
BMGC_DS03159,BMG_DS004363,tonsillar fossa cancer
BMGC_DS03160,BMG_DS004364,tonsillar pillar cancer
BMGC_DS03161,BMG_DS004365,vallecula cancer
BMGC_DS03162,BMG_DS004366,oropharynx cancer
BMGC_DS03163,BMG_DS004367,oropharynx cancer
BMGC_DS03164,BMG_DS004368,oropharynx cancer
BMGC_DS03165,BMG_DS004369,malignant tumor of nasopharynx | nasopharynx carcinoma
BMGC_DS03166,BMG_DS004370,nasopharynx carcinoma
BMGC_DS03167,BMG_DS004371,nasopharynx carcinoma
BMGC_DS03168,BMG_DS004372,nasopharynx carcinoma
BMGC_DS03169,BMG_DS004373,nasopharynx carcinoma
BMGC_DS03170,BMG_DS004374,hypopharynx cancer
BMGC_DS03171,BMG_DS004375,pyriform sinus cancer
BMGC_DS03172,BMG_DS004376,aryepiglottic fold cancer
BMGC_DS03173,BMG_DS004378,Waldeyer's ring cancer
BMGC_DS03174,BMG_DS004380,esophageal cancer
BMGC_DS03175,BMG_DS004381,esophageal cancer
BMGC_DS03176,BMG_DS004382,esophageal cancer
BMGC_DS03177,BMG_DS004383,esophageal cancer
BMGC_DS03178,BMG_DS004384,cardia cancer
BMGC_DS03179,BMG_DS004385,pylorus cancer
BMGC_DS03180,BMG_DS004386,pyloric antrum cancer
BMGC_DS03181,BMG_DS004387,gastric fundus cancer
BMGC_DS03182,BMG_DS004388,stomach cancer
BMGC_DS03183,BMG_DS004389,stomach cancer
BMGC_DS03184,BMG_DS004390,stomach cancer
BMGC_DS03185,BMG_DS004391,small intestine cancer
BMGC_DS03186,BMG_DS004392,duodenum cancer
BMGC_DS03187,BMG_DS004393,jejunal cancer
BMGC_DS03188,BMG_DS004394,ileum cancer
BMGC_DS03189,BMG_DS004395,Meckel diverticulum cancer | Meckel's diverticulum cancer
BMGC_DS03190,BMG_DS004396,hepatic flexure cancer
BMGC_DS03191,BMG_DS004397,transverse colon cancer
BMGC_DS03192,BMG_DS004398,descending colon cancer
BMGC_DS03193,BMG_DS004399,sigmoid colon cancer
BMGC_DS03194,BMG_DS004400,cecum cancer
BMGC_DS03195,BMG_DS004401,ascending colon cancer
BMGC_DS03196,BMG_DS004402,splenic flexure cancer
BMGC_DS03197,BMG_DS004403,rectosigmoid junction cancer
BMGC_DS03198,BMG_DS004404,anal canal cancer | anus cancer
BMGC_DS03199,BMG_DS004405,anus cancer
BMGC_DS03200,BMG_DS004406,gallbladder cancer
BMGC_DS03201,BMG_DS004407,bile duct cancer | malignant tumor of extrahepatic bile duct
BMGC_DS03202,BMG_DS004408,ampulla of Vater cancer | ampulla of vater cancer
BMGC_DS03203,BMG_DS004409,pancreatic cancer
BMGC_DS03204,BMG_DS004410,pancreatic cancer
BMGC_DS03205,BMG_DS004411,pancreatic cancer
BMGC_DS03206,BMG_DS004412,pancreatic ductal carcinoma
BMGC_DS03207,BMG_DS004413,pancreatic cancer
BMGC_DS03208,BMG_DS004414,retroperitoneal cancer
BMGC_DS03209,BMG_DS004415,retroperitoneal cancer
BMGC_DS03210,BMG_DS004416,peritoneum cancer
BMGC_DS03211,BMG_DS004417,peritoneum cancer
BMGC_DS03212,BMG_DS004418,spleen cancer
BMGC_DS03213,BMG_DS004420,maxillary sinus cancer
BMGC_DS03214,BMG_DS004421,ethmoid sinus cancer
BMGC_DS03215,BMG_DS004422,frontal sinus cancer
BMGC_DS03216,BMG_DS004423,sphenoidal sinus cancer
BMGC_DS03217,BMG_DS004424,glottis cancer
BMGC_DS03218,BMG_DS004425,supraglottis cancer
BMGC_DS03219,BMG_DS004426,subglottis cancer
BMGC_DS03220,BMG_DS004427,laryngeal cartilage cancer
BMGC_DS03221,BMG_DS004428,tracheal cancer
BMGC_DS03222,BMG_DS004429,main bronchus cancer
BMGC_DS03223,BMG_DS004430,lung cancer
BMGC_DS03224,BMG_DS004431,lung cancer
BMGC_DS03225,BMG_DS004432,lung cancer
BMGC_DS03226,BMG_DS004433,pleural cancer
BMGC_DS03227,BMG_DS004434,malignant parietal pleura tumor
BMGC_DS03228,BMG_DS004435,malignant visceral pleura tumor
BMGC_DS03229,BMG_DS004436,heart cancer
BMGC_DS03230,BMG_DS004437,posterior mediastinum cancer
BMGC_DS03231,BMG_DS004438,mediastinal cancer
BMGC_DS03232,BMG_DS004439,mandibular cancer
BMGC_DS03233,BMG_DS004440,long bones of lower limb cancer
BMGC_DS03234,BMG_DS004441,cancer of short bone of lower limb | malignant neoplasm of short bones of lower limb
BMGC_DS03235,BMG_DS004442,sarcoma
BMGC_DS03236,BMG_DS004449,Kaposi's sarcoma
BMGC_DS03237,BMG_DS004450,Kaposi's sarcoma
BMGC_DS03238,BMG_DS004451,Kaposi's sarcoma
BMGC_DS03239,BMG_DS004452,Kaposi's sarcoma
BMGC_DS03240,BMG_DS004453,Kaposi's sarcoma
BMGC_DS03241,BMG_DS004454,Kaposi's sarcoma
BMGC_DS03242,BMG_DS004455,uterine cancer
BMGC_DS03243,BMG_DS004457,placenta cancer
BMGC_DS03244,BMG_DS004458,uterine corpus cancer
BMGC_DS03245,BMG_DS004459,cancer of isthmus of fallopian tube | isthmus cancer
BMGC_DS03246,BMG_DS004460,uterine adnexa cancer
BMGC_DS03247,BMG_DS004461,fallopian tube cancer
BMGC_DS03248,BMG_DS004462,parametrium malignant neoplasm
BMGC_DS03249,BMG_DS004463,uterine adnexa cancer
BMGC_DS03250,BMG_DS004464,female reproductive organ cancer
BMGC_DS03251,BMG_DS004465,clitoris cancer
BMGC_DS03252,BMG_DS004466,testicular cancer
BMGC_DS03253,BMG_DS004467,malignant tumor of undescended testis
BMGC_DS03254,BMG_DS004468,prepuce cancer
BMGC_DS03255,BMG_DS004469,glans penis cancer
BMGC_DS03256,BMG_DS004470,penile cancer
BMGC_DS03257,BMG_DS004471,penile cancer
BMGC_DS03258,BMG_DS004472,epididymis cancer
BMGC_DS03259,BMG_DS004473,spermatic cord cancer
BMGC_DS03260,BMG_DS004474,scrotum cancer | scrotum neoplasm
BMGC_DS03261,BMG_DS004475,male reproductive organ cancer
BMGC_DS03262,BMG_DS004476,urinary bladder anterior wall cancer
BMGC_DS03263,BMG_DS004477,urinary bladder posterior wall cancer
BMGC_DS03264,BMG_DS004478,bladder neck cancer
BMGC_DS03265,BMG_DS004479,ureteric orifice cancer
BMGC_DS03266,BMG_DS004480,urachus cancer
BMGC_DS03267,BMG_DS004481,malignant renal pelvis neoplasm | renal pelvis carcinoma
BMGC_DS03268,BMG_DS004482,ureter cancer
BMGC_DS03269,BMG_DS004483,urethra cancer
BMGC_DS03270,BMG_DS004484,paraurethral gland cancer
BMGC_DS03271,BMG_DS004485,orbital cancer
BMGC_DS03272,BMG_DS004486,lacrimal gland cancer
BMGC_DS03273,BMG_DS004487,conjunctival cancer
BMGC_DS03274,BMG_DS004488,cornea cancer
BMGC_DS03275,BMG_DS004489,choroid cancer
BMGC_DS03276,BMG_DS004490,lacrimal duct cancer
BMGC_DS03277,BMG_DS004491,ocular cancer
BMGC_DS03278,BMG_DS004492,brain cancer
BMGC_DS03279,BMG_DS004493,frontal lobe neoplasm
BMGC_DS03280,BMG_DS004494,temporal lobe cancer | temporal lobe neoplasm
BMGC_DS03281,BMG_DS004495,parietal lobe cancer | parietal lobe neoplasm
BMGC_DS03282,BMG_DS004496,occipital lobe neoplasm
BMGC_DS03283,BMG_DS004497,cancer of cerebellum | cerebellum cancer
BMGC_DS03284,BMG_DS004498,brain stem cancer | brainstem cancer
BMGC_DS03285,BMG_DS004499,cerebrum cancer
BMGC_DS03286,BMG_DS004500,nervous system cancer
BMGC_DS03287,BMG_DS004501,cranial nerve malignant neoplasm | malignant cranial nerve neoplasm
BMGC_DS03288,BMG_DS004502,spinal cancer | spinal cord cancer
BMGC_DS03289,BMG_DS004503,spinal meninges cancer
BMGC_DS03290,BMG_DS004504,malignant tumor of parathyroid gland | parathyroid carcinoma
BMGC_DS03291,BMG_DS004505,pineal gland cancer
BMGC_DS03292,BMG_DS004506,carotid body cancer | malignant carotid body paraganglioma
BMGC_DS03293,BMG_DS004507,endocrine gland cancer | malignant endocrine neoplasm
BMGC_DS03294,BMG_DS004508,thoracic cancer
BMGC_DS03295,BMG_DS004510,intrapelvic lymph node leukemic reticuloendotheliosis
BMGC_DS03296,BMG_DS004511,splenic manifestation of hairy cell leukemia
BMGC_DS03297,BMG_DS004512,intra-abdominal lymph node mast cell malignancy
BMGC_DS03298,BMG_DS004513,monocytic leukemia
BMGC_DS03299,BMG_DS004514,subacute leukemia
BMGC_DS03300,BMG_DS004530,lipoma of face | skin lipoma
BMGC_DS03301,BMG_DS004531,lipoma of spermatic cord
BMGC_DS03302,BMG_DS004532,submucous uterine fibroid
BMGC_DS03303,BMG_DS004533,uterus interstitial leiomyoma
BMGC_DS03304,BMG_DS004534,subserous uterine fibroid
BMGC_DS03305,BMG_DS004535,cervical polyp
BMGC_DS03306,BMG_DS004558,intracranial hemangioma | intracranial structure hemangioma
BMGC_DS03307,BMG_DS004560,hemangioma of intra-abdominal structure | intra-abdominal hemangioma
BMGC_DS03308,BMG_DS004563,esophagus carcinoma in situ
BMGC_DS03309,BMG_DS004564,stomach carcinoma in situ
BMGC_DS03310,BMG_DS004565,colon carcinoma in situ
BMGC_DS03311,BMG_DS004566,rectum carcinoma in situ
BMGC_DS03312,BMG_DS004567,anal carcinoma in situ
BMGC_DS03313,BMG_DS004568,intestine carcinoma in situ
BMGC_DS03314,BMG_DS004569,larynx carcinoma in situ
BMGC_DS03315,BMG_DS004570,trachea carcinoma in situ
BMGC_DS03316,BMG_DS004571,lung carcinoma in situ
BMGC_DS03317,BMG_DS004572,skin carcinoma in situ
BMGC_DS03318,BMG_DS004573,skin carcinoma in situ
BMGC_DS03319,BMG_DS004574,skin carcinoma in situ
BMGC_DS03320,BMG_DS004575,skin carcinoma in situ
BMGC_DS03321,BMG_DS004576,skin carcinoma in situ
BMGC_DS03322,BMG_DS004577,skin carcinoma in situ
BMGC_DS03323,BMG_DS004578,skin carcinoma in situ
BMGC_DS03324,BMG_DS004579,breast carcinoma in situ
BMGC_DS03325,BMG_DS004580,uterus carcinoma in situ
BMGC_DS03326,BMG_DS004581,prostate carcinoma in situ
BMGC_DS03327,BMG_DS004582,penis carcinoma in situ
BMGC_DS03328,BMG_DS004583,bladder carcinoma in situ
BMGC_DS03329,BMG_DS004584,kidney carcinoma in situ
BMGC_DS03330,BMG_DS004585,eye carcinoma in situ
BMGC_DS03331,BMG_DS004586,toxic diffuse goiter
BMGC_DS03332,BMG_DS004591,Hypothyroidism after surgery | Postoperative hypothyroidism | Postoperative hypothyroidism (disorder) | Postsurgical hypothyroidism | postsurgical hypothyroidism
BMGC_DS03333,BMG_DS004593,Iodine hypothyroidism | Iodine hypothyroidism (disorder) | iodine hypothyroidism
BMGC_DS03334,BMG_DS004595,Chronic fibrous thyroiditis | IgG4-related thyroid disease | Invasive fibrous thyroiditis | Ligneous thyroiditis | Riedel thyroiditis | Riedel's fibrosing thyroiditis | Riedel's thyroiditis | Riedel's thyroiditis (disorder) | Struma fibrosa thyroid | Thyroiditis: [chronic fibrous] or [Riedel's] | Thyroiditis: [chronic fibrous] or [Riedel's] (disorder) | Woody thyroiditis
BMGC_DS03335,BMG_DS004599,Other disorders of pancreatic internal secretion | Other disorders of pancreatic internal secretion (disorder) | endocrine pancreas disease
BMGC_DS03336,BMG_DS004600,Post-surgical hypoinsulinaemia | Post-surgical hypoinsulinemia | Post-surgical hypoinsulinemia (disorder) | Postoperative hypoinsulinaemia | Postoperative hypoinsulinemia | Postsurgical hypoinsulinaemia | Postsurgical hypoinsulinemia | post-surgical hypoinsulinemia
BMGC_DS03337,BMG_DS004601,Abnormality of glucagon secretion | Abnormality of secretion of glucagon | Abnormality of secretion of glucagon (disorder) | abnormality of glucagon secretion
BMGC_DS03338,BMG_DS004605,Disease of thymus gland | Disorder of thymus | Disorder of thymus gland | Disorder of thymus gland (disorder) | Thymus disorder | thymus gland disease | thymus gland disorder
BMGC_DS03339,BMG_DS004608,Medulloadrenal hyperfunction | Medulloadrenal hyperfunction (disorder) | medulloadrenal hyperfunction
BMGC_DS03340,BMG_DS004611,Estrogen excess | Estrogen excess (disorder) | Hyperestrogenism | Hyperestrogenism (disorder) | Hyperoestrogenism | Oestrogen excess | estrogen excess
BMGC_DS03341,BMG_DS004619,Polyglandular dysfunction | Polyglandular dysfunction (disorder)
BMGC_DS03342,BMG_DS004632,"Urea Cycle Disorders, Inborn | urea cycle disorder"
BMGC_DS03343,BMG_DS004633,Lipid Metabolism Disorders | inherited lipid metabolism disorder
BMGC_DS03344,BMG_DS004634,Polyclonal hypergammaglobulinaemia | Polyclonal hypergammaglobulinemia | Polyclonal hypergammaglobulinemia (disorder) | polyclonal hypergammaglobulinemia
BMGC_DS03345,BMG_DS004640,B cell deficiency
BMGC_DS03346,BMG_DS004646,Anaemia due to protein deficiency | Anaemia related to kwashiorkor | Anemia due to protein deficiency | Anemia due to protein deficiency (disorder) | Anemia related to kwashiorkor | Protein deficiency anaemia | Protein deficiency anemia | protein-deficiency anemia
BMGC_DS03347,BMG_DS004650,Acquired thrombocytopenia | Acquired thrombocytopenia (disorder) | acquired thrombocytopenia
BMGC_DS03348,BMG_DS004651,Chronic adenitis | Chronic lymphadenitis | Chronic lymphadenitis (disorder) | lymphadenitis
BMGC_DS03349,BMG_DS004654,dementia
BMGC_DS03350,BMG_DS004655,drug-induced mental disorder
BMGC_DS03351,BMG_DS004657,subacute delirium
BMGC_DS03352,BMG_DS004658,substance-induced psychosis
BMGC_DS03353,BMG_DS004659,major depressive disorder
BMGC_DS03354,BMG_DS004660,atypical depressive disorder
BMGC_DS03355,BMG_DS004661,pervasive developmental disorder
BMGC_DS03356,BMG_DS004662,psychologic dyspareunia
BMGC_DS03357,BMG_DS004663,barbiturate dependence
BMGC_DS03358,BMG_DS004664,barbiturate abuse
BMGC_DS03359,BMG_DS004665,amphetamine abuse
BMGC_DS03360,BMG_DS004666,antidepressant type abuse
BMGC_DS03361,BMG_DS004669,sleep disorder
BMGC_DS03362,BMG_DS004670,rumination disorder
BMGC_DS03363,BMG_DS004671,reading disorder
BMGC_DS03364,BMG_DS004672,Meningitis due to Streptococcus | Streptococcal meningitis | Streptococcal meningitis (disorder) | streptococcal meningitis
BMGC_DS03365,BMG_DS004673,Meningitis due to Staphylococcus | Staphylococcal meningitis | Staphylococcal meningitis (disorder)
BMGC_DS03366,BMG_DS004675,Meningeal sarcoidosis | Meningitis due to sarcoidosis | Sarcoid meningitis | Sarcoid meningitis (disorder) | sarcoid meningitis
BMGC_DS03367,BMG_DS004677,Eosinophilic meningitis | Eosinophilic meningitis (disorder) | eosinophilic meningitis
BMGC_DS03368,BMG_DS004678,"Chronic meningitis | Chronic meningitis (disorder) | Disorders of the meninges excluding infection, unspecified | chronic meningitis"
BMGC_DS03369,BMG_DS004683,(Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) (disorder) | Age-related degeneration of brain | Child cerebral degeneration | Hydrocephalus | Senile brain degen. | Senile degeneration of brain | Senile degeneration of brain (disorder) | senile degeneration of brain
BMGC_DS03370,BMG_DS004684,Degenerative brain disorder | Degenerative brain disorder (disorder) | cerebral degeneration
BMGC_DS03371,BMG_DS004685,(Symptomatic torsion dystonia) or (athetoid cerebral palsy) or (congenital athetosis) or (Vogt's disease) | (Symptomatic torsion dystonia) or (athetoid cerebral palsy) or (congenital athetosis) or (Vogt's disease) (disorder) | Athetoid cerebral palsy | Athetosis - congenital | Symptomatic torsion dystonia | Symptomatic torsion dystonia (disorder) | Vogt's disease | generalized dystonia
BMGC_DS03372,BMG_DS004686,Fragments of torsion dystonia | Fragments of torsion dystonia (disorder) | generalized dystonia
BMGC_DS03373,BMG_DS004688,Anterior Horn Cell Disease | Motor Neuron Disease | anterior horn cell disease | anterior horn disorder
BMGC_DS03374,BMG_DS004689,Lateral Sclerosis | Motor Neuron Disease | lateral sclerosis
BMGC_DS03375,BMG_DS004690,Vascular myelopathy | Vascular myelopathy (disorder) | vascular myelopathy
BMGC_DS03376,BMG_DS004693,Idiopathic peripheral autonomic neuropathy | Idiopathic peripheral autonomic neuropathy (disorder) | Other specified autonomic neuropathies | idiopathic peripheral autonomic neuropathy
BMGC_DS03377,BMG_DS004694,autonomic nervous system disease
BMGC_DS03378,BMG_DS004696,"Hemiplegia | Hemiplegia, Flaccid"
BMGC_DS03379,BMG_DS004697,"Hemiplegia | Hemiplegia, Spastic | spastic hemiplegia"
BMGC_DS03380,BMG_DS004698,Cerebral Palsy | Diplegic Infantile Cerebral Palsy | spastic diplegia
BMGC_DS03381,BMG_DS004699,"Cerebral Palsy | Cerebral Palsy, Quadriplegic, Infantile | spastic quadriplegic cerebral palsy"
BMGC_DS03382,BMG_DS004700,Cerebral Palsy | Monoplegic Infantile Cerebral Palsy | spastic monoplegia
BMGC_DS03383,BMG_DS004702,"Diplegia of upper extremities, unspecified | Diplegia of upper limbs | Diplegia of upper limbs (disorder) | Paralysis of both upper limbs | Upper diplegia | diplegia of upper limb"
BMGC_DS03384,BMG_DS004706,simple partial epilepsy
BMGC_DS03385,BMG_DS004707,Migraine with Aura | migraine with aura
BMGC_DS03386,BMG_DS004711,Disorders of other cranial nerves | glossopharyngeal nerve disease
BMGC_DS03387,BMG_DS004712,Glossopharyngeal Nerve Diseases | Glossopharyngeal Neuralgia | glossopharyngeal neuralgia
BMGC_DS03388,BMG_DS004713,Multiple cranial nerve palsy | Multiple cranial nerve palsy (disorder) | multiple cranial nerve palsy
BMGC_DS03389,BMG_DS004714,Lumbosacral plexus lesion | Lumbosacral plexus lesion (disorder) | lumbosacral plexus lesion
BMGC_DS03390,BMG_DS004718,Mononeuritis of upper limb and mononeuritis multiplex | Mononeuritis of upper limb and mononeuritis multiplex (disorder) | mononeuritis of upper limb and mononeuritis multiplex | neuritis of upper limb
BMGC_DS03391,BMG_DS004719,median neuropathy
BMGC_DS03392,BMG_DS004720,Ulnar Neuropathies | ulnar neuropathy
BMGC_DS03393,BMG_DS004721,Lesion of radial nerve | Lesion of radial nerve (disorder) | Radial nerve lesion | Radial neuropathy | Radial neuropathy (disorder) | radial nerve lesion
BMGC_DS03394,BMG_DS004722,mononeuritis of upper limb
BMGC_DS03395,BMG_DS004723,Mononeuritis of lower limb | Mononeuritis of lower limb (disorder) | mononeuritis of lower limb
BMGC_DS03396,BMG_DS004724,Lesion of Sciatic Nerve | Sciatic Neuropathy | lesion of sciatic nerve
BMGC_DS03397,BMG_DS004725,Medial popliteal neuropathy | Posterior tibial neuropathy | Tibial nerve palsy | Tibial nerve palsy (disorder) | Tibial neuropathy | Tibial neuropathy (disorder) | tibial nerve palsy
BMGC_DS03398,BMG_DS004726,Plantar nerve lesion | Plantar nerve lesion (disorder) | plantar nerve lesion
BMGC_DS03399,BMG_DS004728,Idiopathic progressive polyneuropathy | Idiopathic progressive polyneuropathy (disorder) | idiopathic progressive polyneuropathy
BMGC_DS03400,BMG_DS004729,inflammatory and toxic neuropathy
BMGC_DS03401,BMG_DS004730,Neuropathy in vasculitis and connective tissue disease | Polyneuropathy in collagen vascular disease | Polyneuropathy in collagen vascular disease (disorder) | polyneuropathy in collagen vascular disease
BMGC_DS03402,BMG_DS004731,Drug-related polyneuropathy | Polyneuropathy caused by drug | Polyneuropathy caused by drug (disorder) | polyneuropathy due to drug
BMGC_DS03403,BMG_DS004735,Acute endophthalmitis | Acute endophthalmitis (disorder) | acute endophthalmitis
BMGC_DS03404,BMG_DS004736,Chronic endophthalmitis | Chronic endophthalmitis (disorder) | chronic endophthalmitis
BMGC_DS03405,BMG_DS004737,Caterpillar ophthalmia | Caterpillar-hair ophthalmia | Ophthalmia nodosa | Ophthalmia nodosa (disorder) | ophthalmia nodosa
BMGC_DS03406,BMG_DS004738,Degenerative disorder of eye | Degenerative disorder of eye (disorder) | Degenerative disorder of globe | eye degenerative disease | eye degenerative disorder
BMGC_DS03407,BMG_DS004739,"Myopia, Degenerative | degenerative myopia"
BMGC_DS03408,BMG_DS004740,Other degenerative disorders of globe | globe disease
BMGC_DS03409,BMG_DS004741,Primary hypotony of eye | Primary hypotony of eye (disorder) | primary eye hypotony
BMGC_DS03410,BMG_DS004742,Atrophia bulbi | Atrophy of globe | Blind hypotensive eye | Blind hypotensive eye (disorder) | Eyeball atrophic | Globe of eye shrunken | Globe of eye shrunken (disorder) | Phthisical eye | Phthisis bulbi | Phthysical eye | Phthysis bulbi | Shrunken eyeball | blind hypotensive eye
BMGC_DS03411,BMG_DS004743,(Blind hypertensive eye) or (glaucoma absolute) | (Blind hypertensive eye) or (glaucoma absolute) (disorder) | Absolute glaucoma | Blind hypertensive eye | Blind hypertensive eye (disorder) | Glaucoma - absolute | absolute glaucoma | blind hypertensive eye
BMGC_DS03412,BMG_DS004745,Luxation of eye | Luxation of eye (disorder) | Luxation of globe | luxation of globe
BMGC_DS03413,BMG_DS004748,Flat retinoschisis | Flat retinoschisis (disorder) | flat retinoschisis
BMGC_DS03414,BMG_DS004756,PDR - proliferative diabetic retinopathy | Proliferative diabetic retinopathy | Proliferative diabetic retinopathy (disorder) | Proliferative retinopathy due to diabetes mellitus | Proliferative retinopathy due to diabetes mellitus (disorder) | Proliferative retinopathy with diabetes mellitus | proliferative diabetic retinopathy
BMGC_DS03415,BMG_DS004757,Coats disease | Exudative retinopathy | Exudative retinopathy (disorder)
BMGC_DS03416,BMG_DS004758,retinal vascular disease | retinal vascular disorder
BMGC_DS03417,BMG_DS004759,retinal microaneurysm
BMGC_DS03418,BMG_DS004760,Retinal grouped capillary aneurysms | Retinal telangiectasia | Retinal telangiectasia (disorder) | retinal telangiectasia
BMGC_DS03419,BMG_DS004763,Partial arterial retinal occlusion | Partial occlusion of retinal artery | Partial occlusion of retinal artery (disorder) | Partial retinal artery occlusion | partial arterial retinal occlusion
BMGC_DS03420,BMG_DS004764,Transient arterial retinal occlusion | Transient arterial retinal occlusion (disorder) | transient retinal arterial occlusion
BMGC_DS03421,BMG_DS004765,(Central retinal vein occlusion) or (retinal vein thrombosis) | (Central retinal vein occlusion) or (retinal vein thrombosis) (disorder) | CRVO - Central retinal vein occlusion | CRVT - Central retinal vein thrombosis | Central retinal vein occlusion | Central retinal vein occlusion (disorder) | Central retinal vein thrombosis | Retinal vein thrombosis | central retinal vein occlusion
BMGC_DS03422,BMG_DS004766,venous tributary occlusion of retina
BMGC_DS03423,BMG_DS004768,Cystoid macular retinal degeneration | Cystoid macular retinal degeneration (disorder) | cystoid macular retinal degeneration
BMGC_DS03424,BMG_DS004769,Cobblestone degeneration | Cobblestone retinal degeneration | Paving stone retinal degeneration | Paving stone retinal degeneration (disorder) | Paving-stone retinal degeneration | Pavingstone degeneration | Pavingstone retinal degeneration | cobblestone retinal degeneration
BMGC_DS03425,BMG_DS004770,Blessig's cysts | Iwanoff's cysts | Microcystoid retinal degeneration | Peripheral cystoid degeneration of retina of eye | Peripheral cystoid degeneration of retina of eye (disorder) | Peripheral cystoid retinal degeneration
BMGC_DS03426,BMG_DS004771,LD - Lattice degeneration | Lattice degeneration | Lattice retinal degeneration | Palisade degeneration of retina | Retinal lattice degeneration | Retinal lattice degeneration (disorder) | retinal lattice degeneration
BMGC_DS03427,BMG_DS004772,Senile reticular degeneration | Senile reticular retinal degeneration | Senile reticular retinal degeneration (disorder) | senile reticular retinal degeneration
BMGC_DS03428,BMG_DS004773,Pseudoretinitis pigmentosa | Secondary pigmentary retinal degeneration | Secondary pigmentary retinal degeneration (disorder) | pseudoretinitis pigmentosa
BMGC_DS03429,BMG_DS004774,Secondary vitreoretinal degeneration | Secondary vitreoretinal degeneration (disorder) | secondary vitreoretinal degeneration
BMGC_DS03430,BMG_DS004775,Hereditary retinal dystrophy | Hereditary retinal dystrophy (disorder) | Inherited retinal dystrophies | Leber congenital amaurosis 1 | Leber congenital amaurosis 15 | Leber congenital amaurosis 16 | Leber congenital amaurosis 17 | Leber congenital amaurosis 2 | Leber congenital amaurosis 5 | Leber congenital amaurosis 7 | Leber congenital amaurosis 8 | Leber congenital amaurosis 9 | Usher syndrome type 1 | Usher syndrome type 1C | Usher syndrome type 1D | Usher syndrome type 1E | Usher syndrome type 1F | Usher syndrome type 1G | Usher syndrome type 1H | Usher syndrome type 1J | Usher syndrome type 1K | Usher syndrome type 2A | Usher syndrome type 2C | Usher syndrome type 2D | Usher syndrome type 3A | Usher syndrome type 3B | autosomal recessive pericentral pigmentary retinopathy | cone-rod dystrophy | dominant pericentral pigmentary retinopathy | hereditary retinal dystrophy | late-adult onset retinitis pigmentosa | patterned macular dystrophy | retinitis pigmentosa 22 | retinitis pigmentosa 23 | retinitis pigmentosa 24 | retinitis pigmentosa 28 | retinitis pigmentosa 38 | retinitis pigmentosa 39 | retinitis pigmentosa 40 | retinitis pigmentosa 43 | retinitis pigmentosa 44 | retinitis pigmentosa 45 | retinitis pigmentosa 47 | retinitis pigmentosa 48 | retinitis pigmentosa 49 | retinitis pigmentosa 50 | retinitis pigmentosa 51 | retinitis pigmentosa 54 | retinitis pigmentosa 55 | retinitis pigmentosa 56 | retinitis pigmentosa 57 | retinitis pigmentosa 58 | retinitis pigmentosa 59 | retinitis pigmentosa 60 | retinitis pigmentosa 61 | retinitis pigmentosa 62 | retinitis pigmentosa 63 | retinitis pigmentosa 66 | retinitis pigmentosa 67 | retinitis pigmentosa 68 | retinitis pigmentosa 69 | retinitis pigmentosa 70 | retinitis pigmentosa 71 | retinitis pigmentosa 72 | retinitis pigmentosa 73 | retinitis pigmentosa 74 | retinitis pigmentosa 75 | retinitis pigmentosa 77 | retinitis pigmentosa Y-linked | retinitis pigmentosa with or without situs inversus
BMGC_DS03431,BMG_DS004776,retinal dystrophy in systemic or cerebroretinal lipidoses
BMGC_DS03432,BMG_DS004777,Vitreoretinal dystrophy | Vitreoretinal dystrophy (disorder) | vitreoretinal dystrophy
BMGC_DS03433,BMG_DS004779,Dystrophies primarily involving the retinal pigment epithelium | dystrophies primarily involving the retinal pigment epithelium
BMGC_DS03434,BMG_DS004780,retinal dystrophies primarily involving Bruch's membrane
BMGC_DS03435,BMG_DS004781,Chorioretinal inflammation | Focal chorioretinitis | Focal chorioretinitis (disorder) | Focal retinochoroiditis | focal chorioretinitis
BMGC_DS03436,BMG_DS004784,Neuroretinitis | Neuroretinitis (disorder) | Papilloretinitis | Retinitis | neuroretinitis
BMGC_DS03437,BMG_DS004787,Chorioretinal inflammation | Disseminated chorioretinitis | Disseminated chorioretinitis (disorder) | Disseminated retinochoroiditis | disseminated chorioretinitis
BMGC_DS03438,BMG_DS004793,peripheral scars of retina
BMGC_DS03439,BMG_DS004794,Senile atrophy of choroid | Senile atrophy of choroid (disorder) | senile atrophy of choroid
BMGC_DS03440,BMG_DS004795,Diffuse secondary choroid atrophy | Diffuse secondary choroid atrophy (disorder) | diffuse secondary choroid atrophy
BMGC_DS03441,BMG_DS004796,Choroidal dystrophy | Hereditary choroidal atrophy | Hereditary choroidal dystrophy | Hereditary choroidal dystrophy (disorder) | hereditary choroidal atrophy
BMGC_DS03442,BMG_DS004797,Partial circumpapillary choroid dystrophy | Partial circumpapillary dystrophy of choroid | Partial peripapillary choroidal dystrophy | Partial peripapillary dystrophy of choroid | Partial peripapillary dystrophy of choroid (disorder) | partial circumpapillary choroid dystrophy
BMGC_DS03443,BMG_DS004798,Total circumpapillary dystrophy of choroid | Total peripapillary choroidal dystrophy | Total peripapillary dystrophy of choroid | Total peripapillary dystrophy of choroid (disorder) | total circumpapillary dystrophy of choroid
BMGC_DS03444,BMG_DS004799,central gyrate choroidal dystrophy | total central choroidal atrophy
BMGC_DS03445,BMG_DS004805,Cyclitis | Cyclitis (disorder) | Disorder of iris and ciliary body
BMGC_DS03446,BMG_DS004807,Primary iridocyclitis | Primary iridocyclitis (disorder) | iridocyclitis
BMGC_DS03447,BMG_DS004809,Secondary infected iridocyclitis | Secondary infected iridocyclitis (disorder) | infectious anterior uveitis
BMGC_DS03448,BMG_DS004812,"Disorders of the anterior chamber, unspecified | Iris neovascularisation | Iris neovascularization | NVI - New vessels iris | New vessels in iris | Rubeosis iridis | Rubeosis iridis (disorder) | Rubeotic iris | rubeosis iridis"
BMGC_DS03449,BMG_DS004824,anatomical narrow angle borderline glaucoma
BMGC_DS03450,BMG_DS004825,Residual stage of open angle glaucoma | Residual stage of open angle glaucoma (disorder) | residual stage of open angle glaucoma
BMGC_DS03451,BMG_DS004826,Intermittent angle-closure glaucoma | Intermittent angle-closure glaucoma (disorder) | Intermittent closed-angle glaucoma | Interval angle-closure glaucoma | Prodromal angle closure glaucoma | Subacute angle-closure glaucoma | Subacute closed-angle glaucoma | interval angle-closure glaucoma
BMGC_DS03452,BMG_DS004827,AACG - Acute angle closure glaucoma | Acute angle-closure glaucoma | Acute angle-closure glaucoma (disorder) | acute closed-angle glaucoma
BMGC_DS03453,BMG_DS004828,Anatomical narrow angle glaucoma | Anatomical narrow angle glaucoma (disorder) | CNAG - Chronic narrow angle glaucoma | Chronic angle-closure glaucoma | Chronic closed-angle glaucoma | Chronic narrow angle glaucoma | Narrow cleft glaucoma | chronic closed-angle glaucoma
BMGC_DS03454,BMG_DS004829,Residual stage of angle-closure glaucoma | residual stage angle-closure glaucoma
BMGC_DS03455,BMG_DS004834,phacogenic glaucoma
BMGC_DS03456,BMG_DS004839,Hypersecretion glaucoma | Hypersecretion glaucoma (disorder) | hypersecretion glaucoma
BMGC_DS03457,BMG_DS004843,Cortical senile cataract | Cortical senile cataract (disorder) | cortical senile cataract
BMGC_DS03458,BMG_DS004847,Transient refractive change | Transient refractive change (disorder) | transient refractive change
BMGC_DS03459,BMG_DS004851,ARC - Abnormal retinal correspondence | Abnormal retinal correspondence | Abnormal retinal correspondence (disorder) | Anomalous retinal correspondence | abnormal retinal correspondence
BMGC_DS03460,BMG_DS004852,"Color Blindness, Red | Color Vision Defects | red color blindness"
BMGC_DS03461,BMG_DS004853,"Color Blindness, Red-Green | Color Vision Defects | red-green color blindness"
BMGC_DS03462,BMG_DS004854,"Color Blindness, Blue | Color Vision Defects | blue color blindness"
BMGC_DS03463,BMG_DS004855,"Color Blindness, Acquired | Color Vision Defects | acquired color blindness"
BMGC_DS03464,BMG_DS004856,Abnormal dark adaptation curve | Abnormal dark adaptation curve (disorder) | Abnormal threshold of cones | Abnormal threshold of rods | Dark adaptation abnormality | Delayed adaptation of cones | Delayed adaptation of rods | abnormal threshold of rods
BMGC_DS03465,BMG_DS004857,blindness
BMGC_DS03466,BMG_DS004858,Marginal corneal ulcer | Marginal corneal ulcer (disorder) | marginal corneal ulcer
BMGC_DS03467,BMG_DS004859,Ring corneal ulcer | Ring corneal ulcer (disorder) | ring corneal ulcer
BMGC_DS03468,BMG_DS004860,Central corneal ulcer | Central corneal ulcer (disorder) | central corneal ulcer
BMGC_DS03469,BMG_DS004861,Corneal ulcer with hypopyon | Hypopyon ulcer | Hypopyon ulcer (disorder) | Serpiginous ulcer | Ulcer: [hypopyon] or [serpiginous] | Ulcer: [hypopyon] or [serpiginous] (disorder) | hypopyon ulcer
BMGC_DS03470,BMG_DS004862,Fungal corneal ulcer | Fungal infection of cornea | Keratomycosis | Mycotic corneal ulcer | Mycotic corneal ulcer (disorder) | Mycotic keratitis | mycotic corneal ulcer
BMGC_DS03471,BMG_DS004863,Mooren ulcer | Mooren's corneal ulcer | Mooren's ulcer | Mooren's ulcer (disorder)
BMGC_DS03472,BMG_DS004864,Superficial keratitis | Superficial keratitis (disorder) | superficial keratitis
BMGC_DS03473,BMG_DS004865,Macular keratitis | Macular keratitis (disorder) | macular keratitis
BMGC_DS03474,BMG_DS004866,Filamentary keratitis | Filamentary keratitis (disorder) | Filamentary keratopathy | filamentary keratitis
BMGC_DS03475,BMG_DS004867,Photokeratitis | Photokeratitis (disorder) | photokeratitis
BMGC_DS03476,BMG_DS004868,Phlyctenular keratitis | Phlyctenular keratoconjunctivitis | Phlyctenular keratoconjunctivitis (disorder) | Phlyctenular ophthalmia | Phlyctenulosis | Strumous ophthalmia | phlyctenulosis
BMGC_DS03477,BMG_DS004870,Neurotrophic keratoconjunctivitis | Neurotrophic keratoconjunctivitis (disorder) | neurotrophic keratoconjunctivitis
BMGC_DS03478,BMG_DS004871,"Certain specified disorders of cornea, unspecified | Interstitial and deep keratitis | Interstitial and deep keratitis (disorder) | deep keratitis"
BMGC_DS03479,BMG_DS004872,IK - Interstitial keratitis | Interstitial keratitis | Interstitial keratitis (disorder) | Stromal keratitis | interstitial keratitis
BMGC_DS03480,BMG_DS004873,Cogan's syndrome | Diffuse interstitial keratitis | Diffuse interstitial keratitis (& [Cogan's syndrome]) | Diffuse interstitial keratitis (& [Cogan's syndrome]) (disorder) | Diffuse interstitial keratitis (disorder) | diffuse interstitial keratitis
BMGC_DS03481,BMG_DS004874,Sclerosing keratitis | Sclerosing keratitis (disorder) | sclerosing keratitis
BMGC_DS03482,BMG_DS004875,Corneal abscess | Corneal abscess (disorder) | corneal abscess
BMGC_DS03483,BMG_DS004879,Deep corneal vascularisation | Deep corneal vascularization | Deep vascularisation of cornea | Deep vascularization of cornea | Deep vascularization of cornea (disorder) | deep corneal vascularisation
BMGC_DS03484,BMG_DS004881,Phthisical cornea | Phthisical cornea (disorder) | Phthisical cornea (finding) | phthisical cornea
BMGC_DS03485,BMG_DS004882,Anterior corneal pigmentation | Anterior corneal pigmentation (disorder) | anterior corneal pigmentation
BMGC_DS03486,BMG_DS004883,Stromal corneal pigmentation | Stromal corneal pigmentation (disorder) | stromal corneal pigmentation
BMGC_DS03487,BMG_DS004884,Krukenberg spindle | Posterior corneal pigmentation | Posterior corneal pigmentation (& [Krukenberg spindle]) | Posterior corneal pigmentation (& [Krukenberg spindle]) (disorder) | Posterior corneal pigmentation (disorder) | posterior corneal pigmentation
BMGC_DS03488,BMG_DS004885,Argentous corneal deposit | Argentous corneal deposit (disorder) | Argyrosis of cornea | corneal argyrosis
BMGC_DS03489,BMG_DS004886,Idiopathic corneal edema | Idiopathic corneal edema (disorder) | Idiopathic corneal oedema | idiopathic corneal edema
BMGC_DS03490,BMG_DS004887,Secondary corneal edema | Secondary corneal edema (disorder) | Secondary corneal oedema | secondary corneal edema
BMGC_DS03491,BMG_DS004888,BK - Bullous keratopathy | Bullous keratopathy | Bullous keratopathy (disorder) | bullous keratopathy
BMGC_DS03492,BMG_DS004889,Bowman's membrane folds or rupture | Folds AND/OR rupture of Bowman membrane | Folds AND/OR rupture of Bowman's membrane | Folds AND/OR rupture of Bowman's membrane (disorder)
BMGC_DS03493,BMG_DS004890,Corneal degeneration | Corneal degeneration (disorder) | corneal degeneration
BMGC_DS03494,BMG_DS004891,Recurrent corneal erosion | Recurrent erosion of cornea | Recurrent erosion of cornea (disorder) | Recurrent erosion syndrome | recurrent corneal erosion
BMGC_DS03495,BMG_DS004892,"Corneal Dystrophy, Band-Shaped | band keratopathy"
BMGC_DS03496,BMG_DS004894,Nodular degeneration of cornea | Nodular degeneration of cornea (disorder) | nodular degeneration of cornea
BMGC_DS03497,BMG_DS004895,Peripheral degeneration of cornea | Peripheral degeneration of cornea (disorder) | peripheral degeneration of cornea
BMGC_DS03498,BMG_DS004897,"Amyloid Neuropathies, Familial | Familial Amyloid Polyneuropathy, Type V | lattice corneal dystrophy"
BMGC_DS03499,BMG_DS004898,"Keratoconus, stable condition | Keratoconus, stable condition (disorder) | keratoconus, stable condition | stable condition keratoconus"
BMGC_DS03500,BMG_DS004899,Corneal ectasia | Corneal ectasia (disorder) | Ectasia of cornea | corneal ectasia
BMGC_DS03501,BMG_DS004901,"Serous conjunctivitis, except viral | Serous conjunctivitis, except viral (disorder) | serous conjunctivitis except viral"
BMGC_DS03502,BMG_DS004902,Acute follicular conjunctivitis | Acute follicular conjunctivitis (disorder) | Conjunctival folliculosis | conjunctival folliculosis
BMGC_DS03503,BMG_DS004903,Conjunctivitis: [pseudomembranous] or [membranous] | Conjunctivitis: [pseudomembranous] or [membranous] (disorder) | Membranous conjunctivitis | Pseudomembranous conjunctivitis | Pseudomembranous conjunctivitis (disorder) | pseudomembranous conjunctivitis
BMGC_DS03504,BMG_DS004904,"Chronic conjunctivitis | Chronic conjunctivitis (disorder) | Conjunctivitis, unspecified | chronic conjunctivitis"
BMGC_DS03505,BMG_DS004905,Simple chronic conjunctivitis | Simple chronic conjunctivitis (disorder) | simple chronic conjunctivitis
BMGC_DS03506,BMG_DS004906,Chronic follicular conjunctivitis | Chronic follicular conjunctivitis (disorder) | chronic follicular conjunctivitis
BMGC_DS03507,BMG_DS004907,Parasitic conjunctivitis | Parasitic conjunctivitis (disorder) | parasitic conjunctivitis
BMGC_DS03508,BMG_DS004908,Angular blepharoconjunctivitis | Angular blepharoconjunctivitis (disorder) | angular blepharoconjunctivitis
BMGC_DS03509,BMG_DS004909,Contact blepharoconjunctivitis | Contact blepharoconjunctivitis (disorder) | contact blepharoconjunctivitis
BMGC_DS03510,BMG_DS004910,Rosacea conjunctivitis | Rosacea conjunctivitis (disorder) | rosacea conjunctivitis
BMGC_DS03511,BMG_DS004913,"Peripheral pterygium, progressive | Peripheral pterygium, progressive (disorder) | progressive peripheral pterygium"
BMGC_DS03512,BMG_DS004914,central pterygium
BMGC_DS03513,BMG_DS004915,Double pterygium | Double pterygium (disorder) | double pterygium
BMGC_DS03514,BMG_DS004917,Conjunctival degeneration | Conjunctival degeneration (disorder) | conjunctival degeneration
BMGC_DS03515,BMG_DS004918,Pseudopterygium | Pseudopterygium (disorder) | pseudopterygium
BMGC_DS03516,BMG_DS004919,conjunctival concretion
BMGC_DS03517,BMG_DS004920,Conjunctival pigmentation | Conjunctival pigmentation (disorder) | Conjunctival pigmentation (finding) | conjunctival pigmentation
BMGC_DS03518,BMG_DS004924,Bloodshot eye | Hyperaemia of conjunctiva | Hyperaemia of eye | Hyperaemia of eyes | Hyperemia of conjunctiva | Hyperemia of conjunctiva (disorder) | Hyperemia of eye | Hyperemia of eye (finding) | Hyperemia of eyes | Ocular hyperaemia | Ocular hyperemia | Ocular hyperemia (disorder) | ocular hyperemia
BMGC_DS03519,BMG_DS004927,Ulcerative blepharitis | Ulcerative blepharitis (disorder) | ulcerative blepharitis
BMGC_DS03520,BMG_DS004928,Anterior lid margin disease | Anterior squamous lid disease | Squamous blepharitis | Squamous blepharitis (disorder) | squamous blepharitis
BMGC_DS03521,BMG_DS004930,Non-infectious dermatosis of eyelid | Noninfectious dermatosis of eyelid | Noninfectious dermatosis of eyelid (disorder) | noninfectious dermatoses of eyelid
BMGC_DS03522,BMG_DS004931,Eczema of eyelid | Eczematous dermatitis of eyelid | Eczematous dermatitis of eyelid (disorder) | Eyelid eczema | eczematous dermatitis of eyelid
BMGC_DS03523,BMG_DS004932,Allergic contact dermatitis of eyelid | Allergic contact dermatitis of eyelid (disorder) | allergic contact dermatitis of eyelid
BMGC_DS03524,BMG_DS004933,Xeroderma of eyelid | Xeroderma of eyelid (disorder) | xeroderma of eyelid
BMGC_DS03525,BMG_DS004934,Discoid lupus erythematosus eyelid | Discoid lupus erythematosus of eyelid | Discoid lupus erythematosus of eyelid (disorder) | Discoid lupus eyelid | discoid lupus erythematosus of eyelid
BMGC_DS03526,BMG_DS004935,blepharitis
BMGC_DS03527,BMG_DS004936,Parasitic eyelid infestation | Parasitic eyelid infestation (disorder) | parasitic eyelid infestation
BMGC_DS03528,BMG_DS004938,Age-related entropion | Involutional entropion | Senile entropion | Senile entropion (disorder) | senile entropion
BMGC_DS03529,BMG_DS004939,Mechanical entropion | Mechanical entropion (disorder) | mechanical entropion
BMGC_DS03530,BMG_DS004940,Spastic entropion | Spastic entropion (disorder) | spastic entropion
BMGC_DS03531,BMG_DS004941,Cicatricial entropion | Cicatricial entropion (disorder) | cicatricial entropion
BMGC_DS03532,BMG_DS004942,Age-related ectropion | Involutional ectropion | Senile ectropion | Senile ectropion (disorder) | senile ectropion
BMGC_DS03533,BMG_DS004943,Mechanical ectropion | Mechanical ectropion (disorder) | mechanical ectropion
BMGC_DS03534,BMG_DS004944,Spastic ectropion | Spastic ectropion (disorder) | spastic ectropion
BMGC_DS03535,BMG_DS004945,Cicatricial ectropion | Cicatricial ectropion (disorder) | cicatricial ectropion
BMGC_DS03536,BMG_DS004946,Lagophthalmos | Paralytic Lagophthalmos | paralytic lagophthalmos
BMGC_DS03537,BMG_DS004947,Mechanical lagophthalmos | Mechanical lagophthalmos (disorder) | mechanical lagophthalmos
BMGC_DS03538,BMG_DS004948,Cicatricial Lagophthalmos | Lagophthalmos | cicatricial lagophthalmos
BMGC_DS03539,BMG_DS004952,Hyperpigmentation of Eyelids | hyperpigmentation of eyelid
BMGC_DS03540,BMG_DS004953,Hypopigmentation of eyelid | Hypopigmentation of eyelid (disorder) | eyelid hypopigmentation | hypopigmentation of eyelid
BMGC_DS03541,BMG_DS004954,Hypertrichosis of eyelid | Hypertrichosis of eyelid (disorder) | hypertrichosis of eyelid
BMGC_DS03542,BMG_DS004955,Hypotrichosis of eyelid | Hypotrichosis of eyelid (disorder) | hypotrichosis of eyelid
BMGC_DS03543,BMG_DS004958,"Dacryadenitis | Dacryoadenitis | Dacryoadenitis (disorder) | Dacryocystitis | Disorders of lacrimal apparatus, unspecified | dacryoadenitis"
BMGC_DS03544,BMG_DS004959,Chronic dacryoadenitis | Chronic dacryoadenitis (disorder) | chronic dacryoadenitis
BMGC_DS03545,BMG_DS004961,Primary lacrimal atrophy | Primary lacrimal atrophy (disorder) | primary lacrimal atrophy
BMGC_DS03546,BMG_DS004962,Dislocation of lacrimal gland | Dislocation of lacrimal gland (disorder) | Prolapse of lacrimal gland | prolapse of lacrimal gland
BMGC_DS03547,BMG_DS004963,Epiphora due to excess lacrimation | Epiphora due to excess lacrimation (disorder) | epiphora due to excess lacrimation
BMGC_DS03548,BMG_DS004964,Epiphora due to insufficient drainage | Epiphora due to insufficient drainage (disorder) | epiphora due to insufficient drainage
BMGC_DS03549,BMG_DS004965,(Acute and unspecified inflammation of lacrimal passages) or (acute dacryocystitis) | (Acute and unspecified inflammation of lacrimal passages) or (acute dacryocystitis) (disorder) | Acute and unspecified inflammation of lacrimal passages | Acute dacryocystitis | Acute dacryocystitis (disorder) | Dacryocystitis - acute | acute dacryocystitis
BMGC_DS03550,BMG_DS004966,Cellulitis of lacrimal sac | Phlegmonous dacryocystitis | Phlegmonous dacryocystitis (disorder) | phlegmonous dacryocystitis
BMGC_DS03551,BMG_DS004967,Chronic dacryocystitis | Chronic inflammation of lacrimal drainage structure | Chronic inflammation of lacrimal drainage structure (disorder) | Chronic inflammation of lacrimal passage | Chronic inflammation of lacrimal passage (& [dacryocystitis]) | Chronic inflammation of lacrimal passage (& [dacryocystitis]) (disorder) | Dacryocystitis - chronic | chronic inflammation of lacrimal passage
BMGC_DS03552,BMG_DS004968,Chronic canaliculitis | Chronic lacrimal canaliculitis | Chronic lacrimal canaliculitis (disorder) | chronic canaliculitis
BMGC_DS03553,BMG_DS004969,Dacryocele | Dacryocystocele | Lacrimal mucocele | Lacrimal mucocele (disorder) | Lacrimal mucocoele | Lacrimal sac mucocele | dacryocystocele
BMGC_DS03554,BMG_DS004970,Eversion of lacrimal punctum | Eversion of lacrimal punctum (disorder) | eversion of lacrimal punctum
BMGC_DS03555,BMG_DS004971,Punctal stenosis | Stenosis of lacrimal punctum | Stenosis of lacrimal punctum (disorder) | stenosis of lacrimal punctum
BMGC_DS03556,BMG_DS004972,stenosis of lacrimal passage
BMGC_DS03557,BMG_DS004973,stenosis of lacrimal sac
BMGC_DS03558,BMG_DS004975,acquired tear duct stenosis
BMGC_DS03559,BMG_DS004978,Granuloma of lacrimal passage | Lacrimal passage granuloma | Lacrimal passage granuloma (disorder) | Lacrimal sac granuloma | Lacrimal sac granuloma (disorder) | lacrimal passage granuloma
BMGC_DS03560,BMG_DS004979,acute orbital inflammation
BMGC_DS03561,BMG_DS004980,Orbital osteoperiostitis | Orbital periostitis | Orbital periostitis (disorder) | orbital periostitis
BMGC_DS03562,BMG_DS004981,Orbital osteomyelitis | Orbital osteomyelitis (disorder) | orbital osteomyelitis
BMGC_DS03563,BMG_DS004982,Orbital tenonitis | Tenonitis | Tenonitis (disorder) | orbital tenonitis
BMGC_DS03564,BMG_DS004983,Chronic inflammation of orbit | Chronic inflammation of orbit (disorder) | Chronic orbital inflammation | chronic orbital inflammation
BMGC_DS03565,BMG_DS004984,Orbital granuloma | Orbital granuloma (disorder) | orbital granuloma
BMGC_DS03566,BMG_DS004986,Dysthyroid exophthalmos | Dysthyroid eye disease | Dysthyroid orbitopathy | Endocrine exophthalmos | Endocrine exophthalmos (disorder) | Endocrine ophthalmopathy | Endocrine orbitopathy | Graves eye disease | Graves ophthalmopathy | Graves' eye disease | Graves' ophthalmopathy | Ophthalmic Graves disease | Thyroid eye disease | Thyroid eye disease (disorder) | Thyroid eye disease with exophthalmos | Thyroid eye disease with exophthalmos (disorder) | Thyroid ophthalmopathy | Thyroid orbitopathy | Thyroid-associated ophthalmopathy | endocrine exophthalmos
BMGC_DS03567,BMG_DS004987,Thyrotoxic exophthalmos | Thyrotoxic exophthalmos (disorder) | thyrotoxic exophthalmos
BMGC_DS03568,BMG_DS004989,Constant exophthalmos | Constant exophthalmos (disorder) | constant exophthalmos
BMGC_DS03569,BMG_DS004990,Intermittent exophthalmos | Intermittent exophthalmos (disorder) | Intermittent proptosis | intermittent proptosis
BMGC_DS03570,BMG_DS004991,Pulsating exophthalmos | Pulsating exophthalmos (disorder) | pulsating exophthalmos
BMGC_DS03571,BMG_DS004992,Lateral displacement of eye | Lateral displacement of eye (disorder) | Lateral displacement of globe | lateral displacement of eye
BMGC_DS03572,BMG_DS004997,Cyst of orbit | Cyst of orbit (disorder) | Orbital cyst | orbital cyst
BMGC_DS03573,BMG_DS004998,Extraocular myopathy | Myopathy of extraocular muscles | Myopathy of extraocular muscles (disorder) | myopathy of extraocular muscle
BMGC_DS03574,BMG_DS004999,Disorder of afferent visual pathways | Disorder of optic nerve and visual pathway | Disorder of visual pathways | Disorder of visual pathways (disorder) | visual pathway disease | visual pathway disorder
BMGC_DS03575,BMG_DS005000,Papilledema | Papilledema Associated with Increased Intracranial Pressure | optic papillitis
BMGC_DS03576,BMG_DS005002,Primary optic atrophy | Primary optic atrophy (disorder) | primary optic atrophy
BMGC_DS03577,BMG_DS005005,(Partial optic atrophy) or (temporal pallor - optic disc) | Partial optic atrophy | Partial optic atrophy (disorder) | Temporal pallor - optic disc | partial optic atrophy
BMGC_DS03578,BMG_DS005007,Crater-like holes of optic disc | Crater-like holes of optic disc (disorder) | crater-like holes of optic disc
BMGC_DS03579,BMG_DS005008,coloboma of optic nerve
BMGC_DS03580,BMG_DS005009,Crowded optic disc | Pseudopapilledema | Pseudopapilledema (disorder) | Pseudopapilloedema | obsolete pseudopapilledema | pseudopapilledema
BMGC_DS03581,BMG_DS005010,Acute retrobulbar neuritis | Acute retrobulbar neuritis (disorder) | Acute retrobulbar optic neuritis | acute retrobulbar neuritis
BMGC_DS03582,BMG_DS005011,Disorder of optic nerve due to nutritional deficiency | Disorder of optic nerve due to nutritional deficiency (disorder) | Nutritional optic neuropathy | nutritional optic neuropathy | toxic or nutritional optic neuropathy
BMGC_DS03583,BMG_DS005012,Toxic Optic Neuropathy | toxic optic neuropathy
BMGC_DS03584,BMG_DS005013,"Optic Neuropathy, Ischemic | anterior ischemic optic neuropathy"
BMGC_DS03585,BMG_DS005014,Chiasma syndrome | Optic chiasm disorder | Optic chiasm disorder (disorder) | chiasmal syndrome | disorder of optic chiasm
BMGC_DS03586,BMG_DS005021,"Blindness, Cortical | cortical blindness"
BMGC_DS03587,BMG_DS005035,Esotropia with accommodative compensation | Esotropia with accommodative compensation (disorder) | accommodative esotropia
BMGC_DS03588,BMG_DS005036,Total ophthalmoplegia | Total ophthalmoplegia (disorder) | ophthalmoplegia
BMGC_DS03589,BMG_DS005037,Brown Tendon Sheath Syndrome | Brown syndrome | Brown's tendon sheath syndrome | Ocular Motility Disorders
BMGC_DS03590,BMG_DS005039,Episcleritis | Episcleritis (disorder) | Episcleritis periodica fugax | Episcleritis periodica fugax (disorder) | episcleritis periodica fugax
BMGC_DS03591,BMG_DS005040,Nodular episcleritis | Nodular episcleritis (disorder) | nodular episcleritis
BMGC_DS03592,BMG_DS005041,Anterior scleritis | Anterior scleritis (disorder) | anterior scleritis
BMGC_DS03593,BMG_DS005042,Anterior necrotising scleritis without inflammation | Anterior necrotizing scleritis without inflammation | Scleromalacia perforans | Scleromalacia perforans (disorder) | scleromalacia perforans
BMGC_DS03594,BMG_DS005043,Scleritis with corneal involvement | Scleritis with corneal involvement (disorder) | Scleroperikeratitis | scleroperikeratitis
BMGC_DS03595,BMG_DS005044,Brawny scleritis | Brawny scleritis (disorder) | Diffuse scleritis | brawny scleritis
BMGC_DS03596,BMG_DS005045,(Posterior scleritis) or (sclerotenonitis) | (Posterior scleritis) or (sclerotenonitis) (disorder) | Posterior scleritis | Posterior scleritis (disorder) | Sclerotenonitis | posterior scleritis
BMGC_DS03597,BMG_DS005047,Scleral staphyloma | Scleral staphyloma (disorder) | scleral staphyloma
BMGC_DS03598,BMG_DS005048,Partial scleral ectasia | Posterior scleral staphyloma | Posterior staphyloma | Staphyloma posticum | Staphyloma posticum (disorder) | staphyloma posticum
BMGC_DS03599,BMG_DS005049,Equatorial scleral staphyloma | Equatorial staphyloma | Equatorial staphyloma (disorder) | equatorial staphyloma
BMGC_DS03600,BMG_DS005050,Anterior localised staphyloma | Anterior localized staphyloma | Localised anterior staphyloma | Localized anterior staphyloma | Localized anterior staphyloma (disorder) | localized anterior staphyloma
BMGC_DS03601,BMG_DS005051,Ring staphyloma | Ring staphyloma (disorder) | ring staphyloma
BMGC_DS03602,BMG_DS005053,Vitreous degeneration | Vitreous degeneration (disorder) | vitreous syneresis
BMGC_DS03603,BMG_DS005057,Anterior dislocation of lens | Anterior dislocation of lens (disorder) | anterior dislocation of lens
BMGC_DS03604,BMG_DS005058,Posterior dislocation of lens | Posterior dislocation of lens (disorder) | posterior dislocation of lens
BMGC_DS03605,BMG_DS005059,Argyll Robertson pupil | Atypical Argyll-Robertson pupil | Atypical Argyll-Robertson pupil (disorder) | Nonsyphilitic Argyll-Robertson phenomenon
BMGC_DS03606,BMG_DS005060,Other anomalies of pupillary function | abnormal pupillary function
BMGC_DS03607,BMG_DS005061,Nystagmus associated with disorder of the vestibular system | Nystagmus associated with disorder of the vestibular system (disorder) | Vestibular nystagmus | vestibular nystagmus
BMGC_DS03608,BMG_DS005062,"Dissociated Nystagmus | Nystagmus, Pathologic | dissociated nystagmus"
BMGC_DS03609,BMG_DS005064,external ear disease | external ear disorder
BMGC_DS03610,BMG_DS005065,Perichondritis of auricle | Perichondritis of external ear | Perichondritis of pinna | Perichondritis of pinna (disorder) | perichondritis of auricle
BMGC_DS03611,BMG_DS005066,Acute perichondritis of pinna | Acute perichondritis of pinna (disorder) | acute perichondritis of pinna
BMGC_DS03612,BMG_DS005067,Chondrodermatitis nodularis helicis | Chronic perichondritis of pinna | Chronic perichondritis of pinna (disorder) | Chronic pinna perichondritis | Chronic pinna perichondritis (& [chondrodermatitis nodularis helicis]) | Chronic pinna perichondritis (& [chondrodermatitis nodularis helicis]) (disorder) | chronic perichondritis of pinna
BMGC_DS03613,BMG_DS005068,Acute infection of pinna | Acute infection of pinna (disorder) | acute infection of pinna
BMGC_DS03614,BMG_DS005069,Malignant otitis externa | Malignant otitis externa (disorder) | Necrotising otitis externa | Necrotizing otitis externa | malignant otitis externa
BMGC_DS03615,BMG_DS005070,Chronic fungal otitis externa | Chronic mycotic otitis externa | Chronic mycotic otitis externa (disorder) | chronic fungal otitis externa
BMGC_DS03616,BMG_DS005072,Cholesteatoma of external auditory canal | Cholesteatoma of external ear | Cholesteatoma of external ear (disorder) | cholesteatoma of external ear
BMGC_DS03617,BMG_DS005075,Exostosis of external ear canal | Exostosis of external ear canal (disorder) | External auditory canal exostosis | Swimmers exostosis | ear exostoses
BMGC_DS03618,BMG_DS005077,Acute non-suppurative serous otitis media | Acute non-suppurative serous otitis media (disorder) | Acute nonsuppurative serous otitis media | Acute serous or mucoid otitis media | Acute serous otitis media | Acute serous otitis media (disorder) | acute serous otitis media
BMGC_DS03619,BMG_DS005078,Acute allergic serous otitis media | Acute allergic serous otitis media (disorder) | acute allergic serous otitis media
BMGC_DS03620,BMG_DS005079,Acute allergic mucoid otitis media | Acute allergic mucoid otitis media (disorder) | acute allergic mucoid otitis media
BMGC_DS03621,BMG_DS005080,Acute allergic sanguineous otitis media | Acute allergic sanguineous otitis media (disorder) | Acute allergic sanguinous otitis media | acute allergic sanguinous otitis media
BMGC_DS03622,BMG_DS005081,"Chronic non-suppurative otitis media with effusion - serous | Chronic secretory otitis media, serous | Chronic serous or mucoid otitis media | Chronic serous otitis media | Chronic serous otitis media (disorder) | Glue ear - serous | Otitis media with effusion - serous | Simple chronic serous otitis media | serous glue ear"
BMGC_DS03623,BMG_DS005082,Catarrh - eustachian | Eustachian salpingitis | Eustachian tube salpingitis | Eustachian tube salpingitis (disorder) | Eustachian tube: [salpingitis] or [catarrh] | Eustachian tube: [salpingitis] or [catarrh] (disorder) | Otosalpingitis | Tubotympanitis | otosalpingitis
BMGC_DS03624,BMG_DS005083,Acute eustachian tube salpingitis | Acute eustachian tube salpingitis (disorder) | acute eustachian salpingitis
BMGC_DS03625,BMG_DS005084,Chronic eustachian salpingitis | Chronic eustachian tube salpingitis | Chronic eustachian tube salpingitis (disorder) | chronic eustachian salpingitis
BMGC_DS03626,BMG_DS005087,Patulous eustachian tube | Patulous eustachian tube (disorder) | patulous eustachian tube
BMGC_DS03627,BMG_DS005088,eustachian tube disease
BMGC_DS03628,BMG_DS005089,purulent acute otitis media
BMGC_DS03629,BMG_DS005090,Chronic suppurative otitis media - tubotympanic | Chronic tubotympanic suppurative otitis media | Chronic tubotympanic suppurative otitis media (disorder) | chronic tubotympanic suppurative otitis media
BMGC_DS03630,BMG_DS005091,Chronic atticoantral disease with posterior AND/OR superior marginal perforation of ear drum | Chronic atticoantral suppurative otitis media | Chronic atticoantral suppurative otitis media (disorder) | Chronic suppurative otitis media - atticoantral | Persistent mucosal disease with posterior AND/OR superior marginal perforation of ear drum | chronic atticoantral disease
BMGC_DS03631,BMG_DS005095,Inflammation of petrous bone | Other mastoiditis | Petrositis | Petrositis &/or other mastoiditis | Petrositis &/or other mastoiditis (disorder) | Petrositis (disorder) | petrositis
BMGC_DS03632,BMG_DS005096,Acute petrositis | Acute petrositis (disorder) | petrositis
BMGC_DS03633,BMG_DS005097,Chronic petrositis | Chronic petrositis (disorder) | petrositis
BMGC_DS03634,BMG_DS005100,Acute myringitis | Acute myringitis (disorder) | Acute tympanitis | acute tympanitis
BMGC_DS03635,BMG_DS005101,Bullous myringitis | Bullous myringitis (disorder) | Myringitis bullosa | Myringitis bullosa haemorrhagica | Myringitis bullosa hemorrhagica | myringitis bullosa hemorrhagica
BMGC_DS03636,BMG_DS005106,Atrophic flaccid tympanic membrane | Atrophic flaccid tympanic membrane (disorder) | atrophic flaccid tympanic membrane
BMGC_DS03637,BMG_DS005107,Atrophic nonflaccid tympanic membrane | Atrophic nonflaccid tympanic membrane (disorder) | atrophic nonflaccid tympanic membrane
BMGC_DS03638,BMG_DS005109,Tympanosclerosis involving other combination of structures | Tympanosclerosis involving other combination of structures (disorder) | tympanosclerosis
BMGC_DS03639,BMG_DS005110,Adhesive middle ear disease | Adhesive middle ear disease (disorder) | Adhesive otitis media | Chronic adhesive otitis media | Fibrotic adhesive otitis media | adhesive otitis media
BMGC_DS03640,BMG_DS005112,dislocation of ear ossicle
BMGC_DS03641,BMG_DS005113,necrosis of ear ossicle
BMGC_DS03642,BMG_DS005114,Cholesteatoma of attic | Cholesteatoma of attic (disorder) | cholesteatoma of attic
BMGC_DS03643,BMG_DS005115,"Cholesteatoma, Middle Ear | Middle Ear Cholesteatoma | cholesteatoma of middle ear"
BMGC_DS03644,BMG_DS005117,middle ear cholesterol granuloma
BMGC_DS03645,BMG_DS005119,Active cochleovestibular Meniere's disease | Active cochleovestibular Ménière disease | Active cochleovestibular Ménière's disease | Active cochleovestibular Ménière's disease (disorder) | active cochleovestibular Meniere disease | active cochleovestibular Meniere's disease
BMGC_DS03646,BMG_DS005120,Active cochlear Meniere's disease | Active cochlear Ménière disease | Active cochlear Ménière's disease | Active cochlear Ménière's disease (disorder) | active cochlear Meniere disease | active cochlear Meniere's disease
BMGC_DS03647,BMG_DS005121,Active vestibular Meniere's disease | Active vestibular Ménière disease | Active vestibular Ménière's disease | Active vestibular Ménière's disease (disorder) | active vestibular Meniere disease | active vestibular Meniere's disease
BMGC_DS03648,BMG_DS005123,"Vertigo | Vertigo, Peripheral | peripheral vertigo"
BMGC_DS03649,BMG_DS005124,Benign Paroxysmal Positional Vertigo | benign paroxysmal positional vertigo
BMGC_DS03650,BMG_DS005125,Central Nervous System Origin Vertigo | Vertigo | central nervous system origin vertigo
BMGC_DS03651,BMG_DS005126,Serous labyrinthitis | Serous labyrinthitis (disorder) | serous labyrinthitis
BMGC_DS03652,BMG_DS005127,Circumscribed labyrinthitis | Circumscribed labyrinthitis (disorder) | Focal labyrinthitis | focal labyrinthitis
BMGC_DS03653,BMG_DS005128,Purulent labyrinthitis | Suppurative labyrinthitis | Suppurative labyrinthitis (disorder) | purulent labyrinthitis
BMGC_DS03654,BMG_DS005129,Toxic labyrinthitis | Toxic labyrinthitis (disorder) | toxic labyrinthitis
BMGC_DS03655,BMG_DS005130,Acute peripheral vestibulopathy | Epidemic neurolabyrinthitis | Epidemic vertigo | Vestibular neuritis | Vestibular neuronitis | Viral labyrinthitis | Viral labyrinthitis (disorder) | Viral otitis interna | viral labyrinthitis
BMGC_DS03656,BMG_DS005131,Labyrinthine dysfunction | Labyrinthine dysfunction (disorder) | labyrinthine dysfunction
BMGC_DS03657,BMG_DS005132,unilateral hyperactive labyrinth
BMGC_DS03658,BMG_DS005133,Hyperactive bilateral labyrinthine dysfunction | Hyperactive bilateral labyrinthine dysfunction (disorder) | bilateral hyperactive labyrinth
BMGC_DS03659,BMG_DS005134,unilateral hypoactive labyrinth
BMGC_DS03660,BMG_DS005135,Hypoactive bilateral labyrinthine dysfunction | Hypoactive bilateral labyrinthine dysfunction (disorder) | bilateral hypoactive labyrinth
BMGC_DS03661,BMG_DS005136,labyrinthine unilateral reactive loss
BMGC_DS03662,BMG_DS005137,labyrinthine bilateral reactive loss
BMGC_DS03663,BMG_DS005142,discharging ear | otorrhea
BMGC_DS03664,BMG_DS005154,Chronic pericarditis due to rheumatic heart disease | Chronic pericarditis due to rheumatic heart disease (disorder) | Chronic rheumatic heart disease with pericarditis | Chronic rheumatic pericarditis | Chronic rheumatic pericarditis (disorder) | Rheumatic heart disease with pericarditis | chronic rheumatic pericarditis
BMGC_DS03665,BMG_DS005155,Rheumatic mitral incompetence | Rheumatic mitral insufficiency | Rheumatic mitral regurgitation | Rheumatic mitral regurgitation (disorder) | Rheumatic mitral valve insufficiency | mitral valve disease
BMGC_DS03666,BMG_DS005156,Rheumatic aortic stenosis | Rheumatic aortic stenosis (disorder) | Rheumatic aortic valve stenosis | aortic valve stenosis
BMGC_DS03667,BMG_DS005157,Aortic incompetence - rheumatic | Rheumatic aortic incompetence | Rheumatic aortic insufficiency | Rheumatic aortic regurgitation | Rheumatic aortic regurgitation (disorder) | Rheumatic aortic valve insufficiency | aortic valve insufficiency
BMGC_DS03668,BMG_DS005159,Rheumatic disease of pulmonary valve | Rheumatic disease of pulmonary valve (disorder) | Rheumatic pulmonary valve disease | rheumatic pulmonary valve disease
BMGC_DS03669,BMG_DS005160,Congestive rheumatic heart failure | Congestive rheumatic heart failure (disorder) | rheumatic congestive heart failure
BMGC_DS03670,BMG_DS005161,Benign essential hypertension | Benign essential hypertension (disorder) | benign essential hypertension
BMGC_DS03671,BMG_DS005167,Malignant hypertensive renal disease | Malignant hypertensive renal disease (disorder) | malignant hypertensive renal disease
BMGC_DS03672,BMG_DS005168,Benign hypertensive renal disease | Benign hypertensive renal disease (disorder) | benign hypertensive renal disease
BMGC_DS03673,BMG_DS005173,Secondary hypertension | Secondary hypertension (disorder) | secondary hypertension
BMGC_DS03674,BMG_DS005174,Accelerated secondary hypertension | Malignant secondary hypertension | Malignant secondary hypertension (disorder) | malignant secondary hypertension
BMGC_DS03675,BMG_DS005175,Benign secondary hypertension | Benign secondary hypertension (disorder) | Secondary benign hypertension | Secondary benign hypertension (disorder) | benign secondary hypertension
BMGC_DS03676,BMG_DS005176,benign renovascular hypertension
BMGC_DS03677,BMG_DS005177,(Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) (disorder) | AMI - Acute myocardial infarction | Acute myocardial infarction | Acute myocardial infarction (disorder) | Attack - heart | Cardiac rupture after acute myocardial infarction | Cardiac rupture following myocardial infarction (MI) | Coronary thrombosis | Heart attack | MI - Acute myocardial infarction | MI - acute myocardial infarction | MI/Acute myocardial infarction | Myocardial infarct | Myocardial infarction (& [acute]) or coronary thrombosis | Myocardial infarction (& [acute]) or coronary thrombosis (disorder) | Silent myocardial infarction | Thrombosis - coronary | acute myocardial infarction
BMGC_DS03678,BMG_DS005178,Acute anterolateral myocardial infarction | Acute myocardial infarction of anterolateral wall | Acute myocardial infarction of anterolateral wall (disorder) | acute anterolateral myocardial infarction
BMGC_DS03679,BMG_DS005179,acute inferolateral myocardial infarction
BMGC_DS03680,BMG_DS005180,acute inferoposterior infarction
BMGC_DS03681,BMG_DS005181,strictly posterior acute myocardial infarction
BMGC_DS03682,BMG_DS005182,subendocardial infarction acute myocardial infarction
BMGC_DS03683,BMG_DS005184,Acute cor pulmonale | Acute cor pulmonale (disorder) | Acute pulmonary heart disease | Acute pulmonary heart disease (disorder) | acute cor pulmonale | acute pulmonary heart disease
BMGC_DS03684,BMG_DS005185,chronic pulmonary heart disease
BMGC_DS03685,BMG_DS005187,(Acute pericarditis) or (acute pericardial effusion) | (Acute pericarditis) or (acute pericardial effusion) (disorder) | Acute pericarditis | Acute pericarditis (disorder) | Pericardial effusion - acute
BMGC_DS03686,BMG_DS005191,Acute myocarditis | Acute myocarditis (disorder) | acute myocarditis
BMGC_DS03687,BMG_DS005192,Fiedler's myocarditis | Giant cell myocarditis | Isolated (Fiedler's) myocarditis | Isolated (Fiedler's) myocarditis (disorder) | Myocarditis: [isolated - Fiedler's] or [giant cell] | Myocarditis: [isolated - Fiedler's] or [giant cell] (disorder) | fiedler's myocarditis
BMGC_DS03688,BMG_DS005193,Bacterial myocarditis | Bacterial myocarditis (disorder) | Infectious myocarditis | Septic myocarditis | septic myocarditis
BMGC_DS03689,BMG_DS005194,Acute toxic disorder of myocardium | Toxic myocarditis | Toxic myocarditis (disorder) | toxic myocarditis
BMGC_DS03690,BMG_DS005198,extrinsic cardiomyopathy
BMGC_DS03691,BMG_DS005199,Mobitz type II atrioventricular block | Mobitz type II atrioventricular block (disorder) | Mobitz type II incomplete atrioventricular block | Second degree Mobitz type II incomplete atrioventricular block
BMGC_DS03692,BMG_DS005200,Left bundle branch [block] or [hemiblock] | Left bundle branch [block] or [hemiblock] (disorder) | Left bundle branch block | Left bundle branch hemiblock | Left bundle branch hemiblock (disorder) | left bundle branch hemiblock
BMGC_DS03693,BMG_DS005201,RBBB - Right bundle branch block with left posterior fascicular block | Right bundle branch block AND left posterior fascicular block | Right bundle branch block AND left posterior fascicular block (disorder) | Right bundle branch block with left posterior fascicular block | right bundle branch block
BMGC_DS03694,BMG_DS005205,vertebral artery occlusion
BMGC_DS03695,BMG_DS005206,Asymptomatic stenosis of intracranial or extracranial artery | Occlusion and stenosis of unspecified precerebral artery | occlusion precerebral artery
BMGC_DS03696,BMG_DS005208,Atherosclerosis of aorta | Atherosclerosis of aorta (disorder) | Atherosclerotic aorta | aortic atherosclerosis
BMGC_DS03697,BMG_DS005209,Atherosclerosis of renal artery | Atherosclerosis of renal artery (disorder) | Atherosclerosis renal artery | Renal artery atheroma | Renal artery atherosclerosis | renal artery atheroma
BMGC_DS03698,BMG_DS005219,Capillary disease | Capillary disorder | Disease of capillaries | Disorder of capillaries | Disorder of capillaries (disorder) | Microangiopathy | capillary disease | capillary disorder
BMGC_DS03699,BMG_DS005221,Phlebitis and thrombophlebitis of iliac vein | Phlebitis and thrombophlebitis of iliac vein (disorder) | iliac vein thrombophlebitis
BMGC_DS03700,BMG_DS005222,portal vein thrombosis
BMGC_DS03701,BMG_DS005223,vein disease
BMGC_DS03702,BMG_DS005228,perianal hematoma
BMGC_DS03703,BMG_DS005230,BOV - Bleeding esophageal varices | BOV - Bleeding oesophageal varices | Bleeding esophageal varices | Bleeding esophageal varices (disorder) | Bleeding oesophageal varices | Bleeding oesophageal varices (disorder) | Esophageal varices with bleeding | Esophageal varices with hemorrhage | Oesophageal varices with bleeding | Oesophageal varices with haemorrhage | esophageal varices with bleeding | esophageal varix
BMGC_DS03704,BMG_DS005231,esophageal varix
BMGC_DS03705,BMG_DS005232,esophageal varix
BMGC_DS03706,BMG_DS005233,Pelvic varices | Varicose veins of pelvis | Varicose veins of pelvis (disorder) | pelvic varices
BMGC_DS03707,BMG_DS005236,Acute antritis | Acute maxillary sinusitis | Acute maxillary sinusitis (disorder) | Acute sinusitis | Maxillary sinus | acute maxillary sinusitis
BMGC_DS03708,BMG_DS005237,Acute frontal sinusitis | Acute frontal sinusitis (disorder) | Acute sinusitis | Frontal sinus | acute frontal sinusitis
BMGC_DS03709,BMG_DS005238,Acute ethmoidal sinusitis | Acute ethmoidal sinusitis (disorder) | Acute ethmoiditis | Acute sinusitis | Ethmoid sinus | acute ethmoiditis
BMGC_DS03710,BMG_DS005239,Acute sinusitis | Acute sphenoidal sinusitis | Acute sphenoidal sinusitis (disorder) | Sphenoid sinus | acute sphenoidal sinusitis
BMGC_DS03711,BMG_DS005242,Acute laryngitis and/or tracheitis | Acute laryngitis and/or tracheitis (disorder) | Acute laryngitis/tracheitis | laryngotracheitis
BMGC_DS03712,BMG_DS005244,Acute epiglottitis | Acute epiglottitis (disorder) | Acute epiglottitis and supraglottitis | acute epiglottitis | epiglottitis
BMGC_DS03713,BMG_DS005246,Acute laryngopharyngitis | Acute laryngopharyngitis (disorder) | acute laryngopharyngitis
BMGC_DS03714,BMG_DS005250,Chronic pharyngitis and nasopharyngitis | Chronic pharyngitis and nasopharyngitis (disorder) | pharyngitis
BMGC_DS03715,BMG_DS005252,Chronic nasopharyngitis | Chronic nasopharyngitis (disorder) | nasopharyngitis
BMGC_DS03716,BMG_DS005259,Chronic laryngitis | Chronic laryngitis (disorder) | Chronic laryngitis or laryngotracheitis | chronic laryngitis
BMGC_DS03717,BMG_DS005260,Chronic laryngitis or laryngotracheitis | Chronic laryngotracheitis | Chronic laryngotracheitis (disorder) | laryngotracheitis
BMGC_DS03718,BMG_DS005272,Pneumonia caused by Pseudomonas | Pneumonia caused by Pseudomonas (disorder) | Pseudomonal pneumonia
BMGC_DS03719,BMG_DS005273,Pneumonia caused by Streptococcus | Pneumonia caused by Streptococcus (disorder) | Streptococcal pneumonia | streptococcal pneumonia
BMGC_DS03720,BMG_DS005275,Inhalational anthrax | Inhalational anthrax (disorder) | Pulmonary anthrax | Respiratory anthrax | Woolsorters' disease | inhalational anthrax
BMGC_DS03721,BMG_DS005282,Allergic asthma | Allergic asthma (disorder) | Allergic atopic asthma | Asthma: [extrinsic - atopic] or [allergic] or [pollen] or [childhood] or [with hay fever] | Asthma: [extrinsic - atopic] or [allergic] or [pollen] or [childhood] or [with hay fever] (disorder) | Atopic asthma | Childhood asthma | Extrinsic (atopic) asthma | Extrinsic asthma | Extrinsic asthma (disorder) | Hay fever with asthma | Pollen asthma | allergic asthma
BMGC_DS03722,BMG_DS005284,(Intrinsic asthma) or (late onset asthma) | (Intrinsic asthma) or (late onset asthma) (disorder) | Asthma due to internal immunological process | Asthma: [intrinsic] or [late onset] | Asthma: [intrinsic] or [late onset] (disorder) | Intrinsic asthma | Intrinsic asthma (disorder) | LOA - late onset asthma | Late onset asthma | Late-onset asthma | Late-onset asthma (LOA) | Non-allergic asthma | Non-allergic asthma (disorder) | intrinsic asthma
BMGC_DS03723,BMG_DS005286,Alveolitis due to Aspergillus clavatus AND/OR fumigatus | Malt fever | Malt house workers' cough | Malt workers lung | Malt workers' hypersensitivity pneumonitis | Malt workers' lung | Malt-workers' alveolitis | Malt-workers' lung | Malt-workers' lung (disorder) | Malt-workers' lung disease | malt worker's lung
BMGC_DS03724,BMG_DS005287,Farmer's Lung | Mushroom Worker's Lung | mushroom workers' lung
BMGC_DS03725,BMG_DS005288,Alveolitis due to Cryptostroma corticale | Maple bark strippers lung | Maple bark strippers' hypersensitivity pneumonitis | Maple bark strippers' lung | Maple-bark disease | Maple-bark strippers' disease | Maple-bark strippers' lung | Maple-bark strippers' lung (disorder) | maple bark strippers' lung
BMGC_DS03726,BMG_DS005289,Air conditioner lung | Air-conditioner and humidifier lung | Humidifier AND/OR air conditioning pneumonitis | Humidifier hypersensitivity pneumonitis | Humidifier lung | Humidifier lung (disorder) | Sauna takers lung | Ventilation pneumonitis | ventilation pneumonitis
BMGC_DS03727,BMG_DS005296,Spontaneous tension pneumothorax | Spontaneous tension pneumothorax (disorder) | spontaneous tension pneumothorax
BMGC_DS03728,BMG_DS005297,Abscess of lung and mediastinum | Abscess of lung and mediastinum (disorder)
BMGC_DS03729,BMG_DS005300,Pulmonary Alveolar Microlithiasis | pulmonary alveolar microlithiasis
BMGC_DS03730,BMG_DS005301,Compensatory emphysema | Compensatory emphysema (disorder) | compensatory emphysema
BMGC_DS03731,BMG_DS005302,Acute edema of lung | Acute oedema of lung | Acute pulmonary edema | Acute pulmonary edema (disorder) | Acute pulmonary oedema | Pulmonary edema - acute | Pulmonary oedema - acute
BMGC_DS03732,BMG_DS005305,Tooth Ankylosis | tooth ankylosis
BMGC_DS03733,BMG_DS005307,Acute apical periodontitis | Acute apical periodontitis of pulpal origin | Acute apical periodontitis of pulpal origin (disorder) | acute apical periodontitis
BMGC_DS03734,BMG_DS005309,Acute gingival inflammation | Acute gingivitis | Acute gingivitis (disorder) | Other specified gingival diseases | gingivitis
BMGC_DS03735,BMG_DS005320,median rhomboid glossitis
BMGC_DS03736,BMG_DS005321,Atrophic glossitis | Atrophy of tongue papillae | Atrophy of tongue papillae (disorder) | Bald tongue | Glazed tongue | Glossodynia exfoliativa | Hunter's glossitis | Moeller's glossitis | Moeller's glossodynia exfoliativa | Smooth atrophic tongue | Tongue denuded of papillae | atrophic glossitis
BMGC_DS03737,BMG_DS005322,"Acute gastric ulcer with bleeding | Acute gastric ulcer with haemorrhage | Acute gastric ulcer with haemorrhage (disorder) | Acute gastric ulcer with hemorrhage | Acute gastric ulcer with hemorrhage (disorder) | Bleeding acute gastric ulcer | Gastric ulcer, unspecified"
BMGC_DS03738,BMG_DS005324,"Acute gastric ulcer with perforation | Acute gastric ulcer with perforation (disorder) | GU - acute + perforation | Gastric ulcer, unspecified | Perforated GU | Perforated GU (& [acute]) | Perforated GU (& [acute]) (disorder)"
BMGC_DS03739,BMG_DS005334,"Acute gastrojejunal ulcer with haemorrhage | Acute gastrojejunal ulcer with hemorrhage | Acute gastrojejunal ulcer with hemorrhage (disorder) | Acute stomal ulcer with haemorrhage | Acute stomal ulcer with hemorrhage | Anastomotic ulcer, unspecified | gastrojejunal ulcer"
BMGC_DS03740,BMG_DS005340,Alcoholic gastritis | Alcoholic gastritis (disorder) | alcoholic gastritis
BMGC_DS03741,BMG_DS005343,Chronic duodenal ileus | Chronic duodenal ileus (disorder) | chronic duodenal ileus
BMGC_DS03742,BMG_DS005356,"Crohn disease of small intestine | Crohn's disease of small intestine | Crohn's disease of small intestine (disorder) | Crohn's regional enteritis | Crohns disease, small intestine | Granulomatous enteritis | RE - regional enteritis | Regional enteritis | Regional enteritis of small intestine | Regional ileitis of small intestine | Segmental ileitis of small intestine | gastroduodenal Crohn's disease | jejunoileitis | small bowel Crohn disease"
BMGC_DS03743,BMG_DS005357,"Crohn disease of large bowel | Crohn's colitis | Crohn's disease | Crohn's disease of large bowel | Crohn's disease of large bowel (disorder) | Crohns disease, large intestine | Regional enteritis of the large bowel"
BMGC_DS03744,BMG_DS005362,"Functional diarrhea | Functional diarrhea (disorder) | Functional diarrhoea | Functional gastrointestinal disorders, unspecified | functional diarrhea"
BMGC_DS03745,BMG_DS005365,anorectal stricture
BMGC_DS03746,BMG_DS005366,Abscess of intestine | Abscess of intestine (disorder) | Digestive system abscess
BMGC_DS03747,BMG_DS005370,Chronic | Chronic passive congestion of liver | Chronic passive congestion of liver (disorder) | Nutmeg liver | Passive congestion of liver | nutmeg liver
BMGC_DS03748,BMG_DS005377,Obstruction of gall bladder | Obstruction of gallbladder | Obstruction of gallbladder (disorder) | occlusion of gallbladder
BMGC_DS03749,BMG_DS005378,Other diseases of biliary tract
BMGC_DS03750,BMG_DS005379,perforation of bile duct
BMGC_DS03751,BMG_DS005383,(Pyeloureteritis cystica) or (ureteritis cystica) or (infestation of renal pelvis with ureter) | (Pyeloureteritis cystica) or (ureteritis cystica) or (infestation of renal pelvis with ureter) (disorder) | Infestation of renal pelvis with ureter | Pyelitis cystica | Pyeloureteritis cystica | Pyeloureteritis cystica (disorder) | Ureteritis cystica | pyeloureteritis cystica
BMGC_DS03752,BMG_DS005384,Calculus kidney/ureter | Calculus of kidney and ureter | Calculus of kidney and ureter (disorder) | Calculus of kidney with calculus of ureter | Kidney calculus | Kidney stone | Kidney/ureter calculus | Renal stone | Stone - kidney/ureter | Urinary calculus | Urinary calculus (& [kidney &/or ureter) | Urinary calculus (& [kidney &/or ureter) (disorder) | Urinary calculus (& [kidney &/or ureter]) | Urinary calculus (& [kidney &/or ureter]) (disorder) | nephrolithiasis
BMGC_DS03753,BMG_DS005386,Hypertrophy of kidney | Hypertrophy of kidney (disorder) | kidney hypertrophy
BMGC_DS03754,BMG_DS005387,stricture or kinking of ureter
BMGC_DS03755,BMG_DS005388,Calculus of lower urinary tract | Calculus of lower urinary tract (disorder) | Lower urinary tract calculus | lower urinary tract calculus
BMGC_DS03756,BMG_DS005389,Calculus in diverticulum of bladder | Calculus in diverticulum of urinary bladder | Calculus in diverticulum of urinary bladder (disorder) | Calculus of bladder diverticulum | Diverticulum of bladder with calculus | Stone in bladder diverticulum | stone in bladder diverticulum
BMGC_DS03757,BMG_DS005391,Chronic | Infectious cystitis | Other chronic cystitis | Other chronic cystitis (disorder) | chronic cystitis
BMGC_DS03758,BMG_DS005392,Cystitis caused by radiation | Cystitis caused by radiation (disorder) | Irradiation cystitis | Radiation cystitis | radiation cystitis
BMGC_DS03759,BMG_DS005393,Other disorders of bladder | Other disorders of bladder (disorder)
BMGC_DS03760,BMG_DS005394,bladder diverticulum
BMGC_DS03761,BMG_DS005395,Periurethral &/or urethral abscess | Periurethral &/or urethral abscess (disorder) | Urethral abscess | Urethral abscess (disorder) | Urethral and periurethral abscess | urethral gland abscess
BMGC_DS03762,BMG_DS005396,Urethral syndrome | Urethral syndrome (disorder) | urethral syndrome
BMGC_DS03763,BMG_DS005397,infective urethral stricture
BMGC_DS03764,BMG_DS005398,urethral false passage
BMGC_DS03765,BMG_DS005401,Prostatocystitis | Prostatocystitis (disorder) | prostatocystitis
BMGC_DS03766,BMG_DS005404,Atrophic prostate | Atrophy of prostate | Atrophy of prostate (disorder) | Prostate atrophy | atrophy of prostate
BMGC_DS03767,BMG_DS005409,Atrophic testicle | Atrophy of testis | Atrophy of testis (disorder) | Testicular atrophy | atrophy of testis
BMGC_DS03768,BMG_DS005411,Chylocele | Chylocele (disorder) | Chylocele of tunica vaginalis | Chylocele of tunica vaginalis (disorder) | Chylocoele of tunica vaginalis | Scrotal chylocele | chylocele of tunica vaginalis
BMGC_DS03769,BMG_DS005412,male genital organ stricture
BMGC_DS03770,BMG_DS005413,Fibrocystic change of breast | Fibrosclerosis of breast | Fibrosclerosis of breast (disorder) | breast fibrosis | fibrosclerosis of breast
BMGC_DS03771,BMG_DS005416,Fat necrosis of breast | Fat necrosis of breast (disorder) | fat necrosis of breast
BMGC_DS03772,BMG_DS005418,Acute salpingitis and oophoritis | Acute salpingo-oophoritis | Acute salpingo-oophoritis (disorder) | acute salpingo-oophoritis
BMGC_DS03773,BMG_DS005419,Chronic salpingitis and oophoritis | Chronic salpingo-oophoritis | Chronic salpingo-oophoritis (disorder) | chronic salpingo-oophoritis
BMGC_DS03774,BMG_DS005424,Ulceration of vulva associated with another disorder | Ulceration of vulva associated with another disorder (disorder) | ulceration of vulva
BMGC_DS03775,BMG_DS005425,Chocolate cyst of ovary | Endometriosis of ovary | Endometriosis of ovary (& [chocolate cyst]) | Endometriosis of ovary (& [chocolate cyst]) (disorder) | Endometriosis of ovary (disorder) | Endometriosis of unspecified site | endometriosis of ovary | ovarian endometriosis
BMGC_DS03776,BMG_DS005426,Endometriosis of pelvic peritoneum | Endometriosis of pelvic peritoneum (disorder) | endometriosis of pelvic peritoneum
BMGC_DS03777,BMG_DS005427,Deep ovarian endometriosis | Endometriosis of rectovaginal septum and vagina | Endometriosis of rectovaginal septum and vagina (disorder) | endometriosis of rectovaginal septum and vagina
BMGC_DS03778,BMG_DS005428,Endometriosis of intestine | Endometriosis of intestine (disorder) | endometriosis of intestine
BMGC_DS03779,BMG_DS005429,Endometriosis in scar of skin | Endometriosis in scar of skin (disorder) | Scar endometriosis | endometriosis in cutaneous scar | endometriosis in scar of skin
BMGC_DS03780,BMG_DS005431,corpus luteum cyst
BMGC_DS03781,BMG_DS005434,polyp of corpus uteri | uterine polyp
BMGC_DS03782,BMG_DS005435,Chronic subinvolution of uterus | Chronic subinvolution of uterus (disorder) | chronic subinvolution of uterus
BMGC_DS03783,BMG_DS005440,leukoplakia of vagina
BMGC_DS03784,BMG_DS005442,"Atrophic vulva | Atrophic vulva (disorder) | Atrophic vulvitis | Atrophy of vulva | Atrophy of vulva (disorder) | Noninflammatory disorders of female genital tract, unspecified | atrophic vulva"
BMGC_DS03785,BMG_DS005447,Atrophic vaginitis | Atrophic vaginitis (disorder) | Postmenopausal atrophic vaginitis | Postmenopausal atrophic vaginitis (disorder) | Senile atrophic vaginitis | Senile vaginitis | postmenopausal atrophic vaginitis
BMGC_DS03786,BMG_DS005450,female infertility of uterine origin
BMGC_DS03787,BMG_DS005457,pregnancy disorder with abortive outcome
BMGC_DS03788,BMG_DS005460,low implantation of placenta
BMGC_DS03789,BMG_DS005461,mild pre-eclampsia
BMGC_DS03790,BMG_DS005462,severe pre-eclampsia
BMGC_DS03791,BMG_DS005469,supine hypotensive syndrome
BMGC_DS03792,BMG_DS005471,puerperal pulmonary embolism
BMGC_DS03793,BMG_DS005487,Acute abscess lymph node | Acute adenitis | Acute cervical adenitis | Acute lymphadenitis | Acute lymphadenitis (disorder) | Acute: [lymphadenitis] or [abscess lymph node] or [cervical adenitis] | Acute: [lymphadenitis] or [abscess lymph node] or [cervical adenitis] (disorder) | lymphadenitis
BMGC_DS03794,BMG_DS005491,Benign mucous membrane pemphigoid with ocular involvement | Benign mucous membrane pemphigoid with ocular involvement (disorder) | cicatricial pemphigoid
BMGC_DS03795,BMG_DS005494,Chronic skin ulcer | Chronic skin ulcer (disorder) | Chronic ulcer of skin | Chronic ulcer of skin (disorder) | chronic ulcer of skin
BMGC_DS03796,BMG_DS005496,Chronic Inducible Urticaria | Vibratory Urticaria | vibratory urticaria
BMGC_DS03797,BMG_DS005497,Arthropathy associated with infection | Arthropathy associated with infection (disorder) | Arthropathy related to infection | Arthropathy related to infection (disorder) | Infection-associated arthritis | Infectious arthropathy | arthropathy
BMGC_DS03798,BMG_DS005498,Arthropathy in Behcet syndrome | Arthropathy in Behcet's syndrome | Arthropathy in Behcet's syndrome (disorder) | Behcet syndrome arthropathy | Behcet's syndrome arthropathy | Seronegative arthritis secondary to Behcet's syndrome
BMGC_DS03799,BMG_DS005500,Infective arthritis of shoulder region | Infective arthritis of shoulder region (disorder) | septic arthritis
BMGC_DS03800,BMG_DS005501,septic arthritis
BMGC_DS03801,BMG_DS005502,septic arthritis
BMGC_DS03802,BMG_DS005503,septic arthritis
BMGC_DS03803,BMG_DS005504,septic arthritis
BMGC_DS03804,BMG_DS005505,septic arthritis
BMGC_DS03805,BMG_DS005506,septic arthritis
BMGC_DS03806,BMG_DS005507,Chondrocalcinosis caused by dicalcium phosphate crystals | Chondrocalcinosis caused by dicalcium phosphate crystals (disorder) | Chondrocalcinosis due to dicalcium phosphate crystals | chondrocalcinosis
BMGC_DS03807,BMG_DS005510,Acute juvenile rheumatoid arthritis | Acute polyarticular juvenile idiopathic arthritis | Acute polyarticular juvenile idiopathic arthritis (disorder) | Acute polyarticular juvenile rheumatoid arthritis | Acute polyarticular juvenile rheumatoid arthritis (disorder) | Polyarticular juvenile rheumatoid arthritis | juvenile rheumatoid arthritis
BMGC_DS03808,BMG_DS005511,JCA - Pauciarticular onset juvenile chronic arthritis | Juvenile idiopathic polyarthritis | Pauciarticular juvenile rheumatoid arthritis | Pauciarticular juvenile rheumatoid arthritis (disorder) | Pauciarticular onset juvenile arthritis | Pauciarticular onset juvenile chronic arthritis | juvenile rheumatoid arthritis
BMGC_DS03809,BMG_DS005512,Monarticular juvenile rheumatoid arthritis | Monarticular juvenile rheumatoid arthritis (disorder) | Monoarticular juvenile rheumatoid arthritis | Monoarticular juvenile rheumatoid arthritis (disorder) | juvenile rheumatoid arthritis
BMGC_DS03810,BMG_DS005515,osteoarthritis
BMGC_DS03811,BMG_DS005521,Transient arthropathy of shoulder region | Transient arthropathy of shoulder region (disorder) | Transient arthropathy of the shoulder region | transient arthropathy
BMGC_DS03812,BMG_DS005524,Articular cartilage disease | Articular cartilage disorder | Articular cartilage disorder (disorder) | Cartilage disorder | Cartilage disorder (& [articular]) | Cartilage disorder (& [articular]) (disorder) | Disorder of articular cartilage | articular cartilage disease | articular cartilage disorder
BMGC_DS03813,BMG_DS005529,hydrarthrosis
BMGC_DS03814,BMG_DS005532,Villonodular synovitis | Villonodular synovitis (disorder) | villonodular synovitis
BMGC_DS03815,BMG_DS005533,palindromic rheumatism
BMGC_DS03816,BMG_DS005546,Baastrup syndrome | Baastrup's syndrome | Kissing spine | Kissing spine (disorder) | Localised idiopathic skeletal hyperostosis | Localised idiopathic skeletal hyperostosis (& [kissing spine] or [Baastrup's syndrome]) | Localised idiopathic skeletal hyperostosis (& [kissing spine] or [Baastrup's syndrome]) (disorder) | Localized idiopathic skeletal hyperostosis | Localized idiopathic skeletal hyperostosis (& [kissing spine] or [Baastrup's syndrome]) | Osteoarthrosis interspinalis | Overriding of dorsal spinous processes
BMGC_DS03817,BMG_DS005547,Disorder of intervertebral disc | Intervertebral disc disorder | Intervertebral disc disorder (disorder) | lumbar disk degenerative disorder
BMGC_DS03818,BMG_DS005554,Intervertebral Disc Degeneration | intervertebral disk degenerative disorder
BMGC_DS03819,BMG_DS005568,Hypermobility of coccyx | Hypermobility of coccyx (finding) | Hypermobility of the coccyx | hypermobility of coccyx
BMGC_DS03820,BMG_DS005571,Adhesive Capsulitis | Bursitis
BMGC_DS03821,BMG_DS005572,Calcific tendinitis | Calcific tendinitis of shoulder | Calcific tendinitis of shoulder (disorder) | Calcific tendonitis of shoulder | Calcifying tendinitis of shoulder | Calcifying tendinitis of the shoulder | calcific tendinitis
BMGC_DS03822,BMG_DS005573,Bicipital tenosynovitis | Bicipital tenosynovitis (disorder) | bicipital tenosynovitis
BMGC_DS03823,BMG_DS005577,pes anserinus tendinitis or bursitis
BMGC_DS03824,BMG_DS005578,(Tibial collateral ligament bursitis) or (Pellegrini-Stieda syndrome) | (Tibial collateral ligament bursitis) or (Pellegrini-Stieda syndrome) (disorder) | Pellegrini - Stieda syndrome | Tibial collateral ligament bursitis | Tibial collateral ligament bursitis (disorder) | tibial collateral ligament bursitis
BMGC_DS03825,BMG_DS005579,Fibular collateral ligament bursitis | Inflammation of subtendinous bursa of biceps femoris inferior muscle | Inflammation of subtendinous bursa of biceps femoris inferior muscle (disorder) | fibular collateral ligament bursitis
BMGC_DS03826,BMG_DS005580,(Patellar tendinitis) or (Pellegrini-Stieda syndrome) | (Patellar tendinitis) or (Pellegrini-Stieda syndrome) (disorder) | Patellar tendinitis | Patellar tendonitis | Pellegrini - Stieda syndrome | Pellegrini-Stieda syndrome | Tendinitis of patellar tendon | Tendinitis of patellar tendon (disorder) | patellar tendinitis
BMGC_DS03827,BMG_DS005582,Tibialis tendinitis | Tibialis tendinitis (disorder) | Tibialis tendonitis | tibialis tendinitis
BMGC_DS03828,BMG_DS005583,Heel Spur | heel spur
BMGC_DS03829,BMG_DS005588,tenosynovitis of foot and ankle
BMGC_DS03830,BMG_DS005589,Specific bursitis often of occupational origin | Specific bursitis often of occupational origin (disorder) | specific bursitis often of occupational origin
BMGC_DS03831,BMG_DS005591,ganglion or cyst of synovium/tendon/bursa
BMGC_DS03832,BMG_DS005595,Infectious Myositis | Myositis | infectious myositis
BMGC_DS03833,BMG_DS005596,plantar fascial fibromatosis | plantar fibromatosis
BMGC_DS03834,BMG_DS005597,"Disorders of muscles, unspecified | Interstitial myositis | Interstitial myositis (disorder) | Myositis fibrosa | myositis fibrosa"
BMGC_DS03835,BMG_DS005599,(Bone: [abscess] or [acute infection]) or (acute osteomyelitis) | (Bone: [abscess] or [acute infection]) or (acute osteomyelitis) (disorder) | Acute bone infection | Acute osteomyelitis | Acute osteomyelitis (disorder) | Bone abscess
BMGC_DS03836,BMG_DS005605,Juvenile osteochondrosis of upper extremity | Juvenile osteochondrosis of upper extremity (disorder) | Juvenile osteochondrosis of upper limb | osteonecrosis
BMGC_DS03837,BMG_DS005607,"Juvenile osteochondrosis of foot | Juvenile osteochondrosis of foot (disorder) | Juvenile osteochondrosis of foot, NOS | Kohler's disease | osteochondritis of tarsal/metatarsal bone"
BMGC_DS03838,BMG_DS005608,Other juvenile osteochondrosis | osteochondrosis
BMGC_DS03839,BMG_DS005609,Idiopathic osteoporosis | Idiopathic osteoporosis (disorder) | idiopathic juvenile osteoporosis
BMGC_DS03840,BMG_DS005610,osteonecrosis
BMGC_DS03841,BMG_DS005611,Aseptic necrosis of medial femoral condyle | Avascular necrosis of medial femoral condyle | Avascular necrosis of medial femoral condyle (disorder) | Osteonecrosis of medial femoral condyle | osteonecrosis
BMGC_DS03842,BMG_DS005612,osteonecrosis
BMGC_DS03843,BMG_DS005622,congenital nervous system abnormality
BMGC_DS03844,BMG_DS005623,congenital cystic eye
BMGC_DS03845,BMG_DS005626,vascular malformation
BMGC_DS03846,BMG_DS005631,Congenital insufficiency of mitral valve | Congenital insufficiency of mitral valve (disorder) | Congenital mitral insufficiency | Congenital mitral regurgitation | congenital mitral valve insufficiency | mitral valve insufficiency
BMGC_DS03847,BMG_DS005632,congenital coronary artery anomaly | coronary artery anomaly
BMGC_DS03848,BMG_DS005634,cleft lip/palate
BMGC_DS03849,BMG_DS005635,cleft lip
BMGC_DS03850,BMG_DS005636,aplasia of lacrimal and salivary glands
BMGC_DS03851,BMG_DS005637,displacement of cardia through esophageal hiatus
BMGC_DS03852,BMG_DS005638,Congenital cystic disease of liver | Congenital cystic disease of liver (disorder) | Congenital cystic liver | Congenital hepatic cyst | Congenital polycystic disease of liver | Congenital polycystic liver disease | Cystic disease of liver | Fibrocystic disease of liver | Fibrocystic liver disease | PLD - Polycystic liver disease | Polycystic liver disease | autosomal dominant polycystic liver disease | polycystic liver disease
BMGC_DS03853,BMG_DS005639,congenital radioulnar synostosis | radioulnar synostosis
BMGC_DS03854,BMG_DS005641,cervical rib disease
BMGC_DS03855,BMG_DS005643,Fetal Malnutrition | Fetal Nutrition Disorders
BMGC_DS03856,BMG_DS005652,Congenital Cytomegalovirus Infection | Cytomegalovirus Infections
BMGC_DS03857,BMG_DS005653,Infection of navel cord | Omphalitis of newborn | Omphalitis of newborn (disorder) | Omphalitis of the newborn | Umbilical infection of newborn | Umbilical stump infection of newborn | Umbilical stump infection of the newborn | Umbilical stump infection of the newborn (& [omphalitis]) | Umbilical stump infection of the newborn (& [omphalitis]) (disorder)
BMGC_DS03858,BMG_DS005654,Neonatal infectious mastitis | Neonatal infective mastitis | Neonatal infective mastitis (disorder) | neonatal infective mastitis
BMGC_DS03859,BMG_DS005655,Anaemia due to Rh isoimmunisation | Anemia due to Rh isoimmunization | Erythroblastosis fetalis due to Rh isoimmunisation | Erythroblastosis fetalis due to Rh isoimmunization | Erythroblastosis foetalis due to Rh isoimmunisation | Haemolytic disease - Rh | Haemolytic disease due to Rh isoimmunisation | Haemolytic disease due to rhesus isoimmunisation | Haemolytic disease of fetus OR newborn due to Rh isoimmunisation | Haemolytic disease of fetus OR newborn due to RhD isoimmunisation | Haemolytic disease of foetus OR newborn due to Rh isoimmunisation | Haemolytic disease of foetus OR newborn due to RhD isoimmunisation | Hemolytic disease - Rh | Hemolytic disease due to Rh isoimmunization | Hemolytic disease due to rhesus isoimmunization | Hemolytic disease of fetus OR newborn due to Rh isoimmunization | Hemolytic disease of fetus OR newborn due to RhD isoimmunization | Hemolytic disease of fetus OR newborn due to RhD isoimmunization (disorder) | Jaundice due to Rh isoimmunisation of the newborn | Jaundice due to Rh isoimmunization of the newborn | Rh HDN - Rh haemolytic disease of the newborn | Rh HDN - Rh hemolytic disease of the newborn | Rh haemolytic disease of the newborn | Rh hemolytic disease of the newborn | Rh isoimmunisation of the newborn | Rh isoimmunization of the newborn | Rhesus isoimmunisation of the newborn | Rhesus isoimmunization of the newborn
BMGC_DS03860,BMG_DS005657,Perinatal jaundice due to hepatocellular damage | Perinatal jaundice due to hepatocellular damage (finding) | perinatal jaundice due to hepatocellular damage
BMGC_DS03861,BMG_DS005658,"Neonatal diabetes mellitus | Neonatal diabetes mellitus (disorder) | Neonatal diabetes mellitus, unspecified | neonatal diabetes | neonatal diabetes mellitus | transient neonatal diabetes mellitus"
BMGC_DS03862,BMG_DS005659,"Myasthenia Gravis, Neonatal | Neonatal Myasthenia Gravis | neonatal myasthenia gravis"
BMGC_DS03863,BMG_DS005660,Neonatal thyrotoxicosis | Neonatal thyrotoxicosis (disorder) | Transitory neonatal hyperthyroidism | neonatal thyrotoxicosis
BMGC_DS03864,BMG_DS005662,Neonatal hypoglycaemia | Neonatal hypoglycaemia (disorder) | Neonatal hypoglycemia | Neonatal hypoglycemia (disorder)
BMGC_DS03865,BMG_DS005664,transient neonatal thrombocytopenia
BMGC_DS03866,BMG_DS005665,DIC in newborn | Disseminated intravascular coagulation in newborn | Disseminated intravascular coagulation in newborn (disorder) | Newborn defibrination syndrome | Newborn disseminated intravascular coagulation | disseminated intravascular coagulation in newborn
BMGC_DS03867,BMG_DS005668,Anaemia of prematurity | Anemia of prematurity | Anemia of prematurity (disorder) | anemia of prematurity
BMGC_DS03868,BMG_DS005669,Transient neonatal neutropenia | Transient neonatal neutropenia (disorder) | transient neonatal neutropenia
BMGC_DS03869,BMG_DS005671,"Perinatal intestinal perforation | Perinatal intestinal perforation (disorder) | Perinatal intestinal perforation (finding) | Postnatal intestinal perforation, unspecified | perinatal intestinal perforation"
BMGC_DS03870,BMG_DS005675,Convulsions in the newborn | Neonatal seizure | Neonatal seizure (finding)
BMGC_DS03871,BMG_DS005688,Conjunctival deposit | Conjunctival deposit (disorder) | Conjunctival deposits | conjunctival deposit
BMGC_DS03872,BMG_DS005689,Corneal deposit | Corneal deposit (disorder) | corneal deposit
BMGC_DS03873,BMG_DS005690,"Diabetes Insipidus, Nephrogenic | Nephrogenic Diabetes Insipidus | nephrogenic diabetes insipidus"
BMGC_DS03874,BMG_DS005691,retinal ischemia
BMGC_DS03875,BMG_DS005692,External Ophthalmoplegia | Ophthalmoplegia
BMGC_DS03876,BMG_DS005693,(Joint: [disorder NOS] or [unstable]) or (polyarthralgia) | (Joint: [disorder NOS] or [unstable]) or (polyarthralgia) (disorder) | (Joint: [disorder NOS] or [unstable]) or (polyarthralgia) (finding) | Arthralgia | Arthralgia of multiple joints | Joint disorder NOS | Joint unstable | Multiple joint pain | Pain of multiple joints | Pain of multiple joints (finding) | Polyarthralgia | Unstable joint
BMGC_DS03877,BMG_DS005694,Calculus in urethra | Calculus in urethra (disorder) | Urethral calculus | Urethral stone | urethral calculus
BMGC_DS03878,BMG_DS005695,ALD - adrenoleukodystrophy | Adrenoleucodystrophy | Adrenoleukodystrophy | Adrenoleukodystrophy (disorder) | Bronze Schilder disease | Schilder-Addison complex | Siemerling-Creutzfeldt disease | X-linked adrenoleucodystrophy | X-linked adrenoleukodystrophy | adrenoleukodystrophy
BMGC_DS03879,BMG_DS005696,Alopecia | Androgenetic Alopecia | androgenetic alopecia
BMGC_DS03880,BMG_DS005697,(Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) (disorder) | (Anemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | Anaemia - iron defic. | Anemia - iron defic. | Asiderotic anaemia | Asiderotic anemia | Chlorotic anaemia | Chlorotic anemia | IDA - Iron deficiency anaemia | IDA - Iron deficiency anemia | Iron deficiency anaemia | Iron deficiency anaemia syndrome | Iron deficiency anaemias | Iron deficiency anemia | Iron deficiency anemia (disorder) | Iron deficiency anemia syndrome | Iron deficiency anemias | Kelly-Paterson synd. | Kelly-Paterson syndrome | Microcytic anaemia | Microcytic anemia | Plummer-Vinson syndr. | Plummer-Vinson syndrome | Sideropenic anaemia | Sideropenic anemia | iron deficiency anemia
BMGC_DS03881,BMG_DS005698,(Unspecified polyarthropathy or polyarthritis NOS) or (polyarthritis) | (Unspecified polyarthropathy or polyarthritis NOS) or (polyarthritis) (disorder) | Arthritis | Inflammatory polyarthritis | Inflammatory polyarthropathy | Inflammatory polyarthropathy (disorder) | Polyarthritis | Polyarthritis (disorder) | Undifferentiated inflammatory polyarthritis | Undifferentiated inflammatory polyarthritis (disorder) | Unspecified polyarthropathy or polyarthritis NOS | polyarticular arthritis
BMGC_DS03882,BMG_DS005699,CST - Christ-Siemens-Touraine syndrome | Christ-Siemens-Touraine syndrome | Hypohidrotic X-linked ectodermal dysplasia | Hypohidrotic X-linked ectodermal dysplasia (disorder) | Hypohidrotic ectodermal dysplasia syndrome | Hypohidrotic ectodermal dysplasia syndrome (disorder) | X-linked hypohidrotic ectodermal dysplasia | ectodermal dysplasia 1 | hypohidrotic ectodermal dysplasia
BMGC_DS03883,BMG_DS005700,Clouston syndrome | Ectodermal Dysplasia | Hidrotic Ectodermal Dysplasia
BMGC_DS03884,BMG_DS005701,"Granuloma, Giant Cell | Granuloma, Giant Cell Reparative | giant cell reparative granuloma"
BMGC_DS03885,BMG_DS005702,Miliaria | Miliaria Rubra | miliaria rubra
BMGC_DS03886,BMG_DS005703,Disorder of nutrition | Malnutrition | Nutritional disease | Nutritional disorder | Nutritional disorder (disorder)
BMGC_DS03887,BMG_DS005704,Parapsoriasis | Parapsoriasis en Plaques
BMGC_DS03888,BMG_DS005707,uterine inversion
BMGC_DS03889,BMG_DS005712,Caroli Disease | Caroli disease
BMGC_DS03890,BMG_DS005713,AIDS-Related Opportunistic Infections
BMGC_DS03891,BMG_DS005714,"Colitis, Ischemic | ischemic colitis"
BMGC_DS03892,BMG_DS005715,cutaneous porphyria
BMGC_DS03893,BMG_DS005716,"Coproporphyria, Hereditary | Hereditary Coproporphyria | hereditary coproporphyria"
BMGC_DS03894,BMG_DS005717,"Porphyria, Variegate | Variegate Porphyria | variegate porphyria"
BMGC_DS03895,BMG_DS005718,"Porphyrias, Hepatic | acute porphyria | hepatic porphyria"
BMGC_DS03896,BMG_DS005719,Prion Diseases | prion disease
BMGC_DS03897,BMG_DS005720,IgA deficiency | Immunoglobulin A deficiency | Immunoglobulin A deficiency (disorder) | immunoglobulin alpha deficiency | selective IgA deficiency disease
BMGC_DS03898,BMG_DS005721,Immunoglobulin G deficiency | Immunoglobulin G deficiency (disorder) | selective IgG deficiency disease | selective IgG subclass deficiency
BMGC_DS03899,BMG_DS005722,"Akathisia, Drug-Induced | Akathisia, Tardive"
BMGC_DS03900,BMG_DS005723,"Akathisia, Drug-Induced | drug-induced akathisia"
BMGC_DS03901,BMG_DS005724,"Liver Failure, Acute | acute liver failure"
BMGC_DS03902,BMG_DS005725,AIP - Acute intermittent porphyria | Acute intermittent porphyria | Acute intermittent porphyria (disorder) | Acute porphyria | Intermittent acute porphyria | Intermittent acute porphyria syndrome | Pyrroloporphyria | Swedish porphyria | acute intermittent porphyria
BMGC_DS03903,BMG_DS005726,Porphyria Cutanea Tarda | porphyria cutanea tarda
BMGC_DS03904,BMG_DS005727,"Erythropoietic Protoporphyria | Protoporphyria, Erythropoietic | erythropoietic protoporphyria"
BMGC_DS03905,BMG_DS005728,"Hepatoerythropoietic Porphyria | Porphyria, Hepatoerythropoietic | hepatoerythropoietic porphyria"
BMGC_DS03906,BMG_DS005729,Anisakiasis | Anisakiasis (disorder) | Anisakiosis | Herring worm disease | Herringworm disease | Infection by Anisakis larva | Infection by Anisakis larva (disorder) | Infection caused by Anisakis larva | Infection caused by Anisakis larva (disorder) | anisakiasis
BMGC_DS03907,BMG_DS005734,"Skin Diseases, Bacterial | skin disease caused by bacterial infection"
BMGC_DS03908,BMG_DS005735,"Skin Diseases, Viral"
BMGC_DS03909,BMG_DS005736,Oxyurida Infections
BMGC_DS03910,BMG_DS005738,Angelman Syndrome | Angelman syndrome
BMGC_DS03911,BMG_DS005741,Root Caries | root caries
BMGC_DS03912,BMG_DS005742,(Adult hypertrophic pyloric stenosis) or (gastric outlet obstruction) | (Adult hypertrophic pyloric stenosis) or (gastric outlet obstruction) (disorder) | Adult hypertrophic pyloric stenosis | Gastric outflow obstruction | Gastric outlet obstruction | gastric outlet obstruction
BMGC_DS03913,BMG_DS005743,Mitochondrial Encephalomyopathies | mitochondrial encephalomyopathy
BMGC_DS03914,BMG_DS005744,Megaconial Myopathies | Mitochondrial Myopathies
BMGC_DS03915,BMG_DS005745,Mitochondrial Myopathies | Pleoconial Myopathies
BMGC_DS03916,BMG_DS005746,Mitochondrial Myopathies | inborn mitochondrial myopathy | mitochondrial myopathy
BMGC_DS03917,BMG_DS005747,MELAS Syndrome | MELAS syndrome
BMGC_DS03918,BMG_DS005748,MERRF Syndrome | MERRF syndrome
BMGC_DS03919,BMG_DS005749,CPEO - chronic progressive external ophthalmoplegia | Chronic progressive external ophthalmoplegia | Chronic progressive external ophthalmoplegia (disorder) | Chronic progressive ophthalmoplegia | Graefe's disease | PEO - Progressive external ophthalmoplegia | Progressive external ophthalmoplegia | Progressive external ophthalmoplegia (disorder) | chronic progressive external ophthalmoplegia | progressive external ophthalmoplegia
BMGC_DS03920,BMG_DS005750,Caliciviridae Infections | Caliciviridae infectious disease
BMGC_DS03921,BMG_DS005751,neurofibromatosis
BMGC_DS03922,BMG_DS005752,Tick-Borne Diseases | Tick-Borne Infections
BMGC_DS03923,BMG_DS005753,Tick-Borne Diseases | tick-borne infectious disease
BMGC_DS03924,BMG_DS005754,HELLP Syndrome | HELLP syndrome
BMGC_DS03925,BMG_DS005755,"Hypertrophy, Right Ventricular | Right Ventricular Hypertrophy"
BMGC_DS03926,BMG_DS005756,Kallmann Syndrome | Kallmann syndrome
BMGC_DS03927,BMG_DS005759,"Skin Diseases, Vascular | skin vascular disease | vascular skin disease"
BMGC_DS03928,BMG_DS005760,"Dermatitis, Allergic Contact | allergic contact dermatitis"
BMGC_DS03929,BMG_DS005761,"Dermatitis, Irritant | irritant dermatitis"
BMGC_DS03930,BMG_DS005762,"Dermatitis, Photoallergic | photoallergic dermatitis"
BMGC_DS03931,BMG_DS005763,"Dermatitis, Phototoxic | phototoxic dermatitis"
BMGC_DS03932,BMG_DS005764,hyperpigmentation of the skin
BMGC_DS03933,BMG_DS005765,Hypopigmentation disorder | Hypopigmentation disorder (disorder) | hypopigmentation of the skin
BMGC_DS03934,BMG_DS005766,Hidradenitis Suppurativa | hidradenitis suppurativa
BMGC_DS03935,BMG_DS005767,"Porokeratosis | Porokeratosis, Palmoplantar | porokeratosis plantaris palmaris et disseminata"
BMGC_DS03936,BMG_DS005768,porokeratosis
BMGC_DS03937,BMG_DS005769,Lichenoid Eruptions
BMGC_DS03938,BMG_DS005770,Lichen Nitidus | lichen nitidus
BMGC_DS03939,BMG_DS005775,Mucinoses | cutaneous mucinosis | mucinoses
BMGC_DS03940,BMG_DS005776,"Aneurysm, Ruptured"
BMGC_DS03941,BMG_DS005777,abdominal aortic aneurysm
BMGC_DS03942,BMG_DS005778,thoracic aortic aneurysm
BMGC_DS03943,BMG_DS005780,ASA synthase deficiency | ASAS deficiency | ASS deficiency | Argininosuccinase deficiency | Argininosuccinate synthase deficiency | Arginosuccinate synthetase deficiency | Citrullinaemia | Citrullinemia | Citrullinemia (disorder) | Citrullinuria | citrullinemia
BMGC_DS03944,BMG_DS005781,Dubowitz syndrome | Dubowitz's syndrome | Dubowitz's syndrome (disorder)
BMGC_DS03945,BMG_DS005782,Johanson-Blizzard syndrome | Johanson-Blizzard syndrome (disorder)
BMGC_DS03946,BMG_DS005783,Russell's syndrome | Russell-Silver syndrome | Russell-Silver syndrome (disorder) | Silver syndrome | Silver-Russell syndrome
BMGC_DS03947,BMG_DS005784,Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz syndrome
BMGC_DS03948,BMG_DS005785,Cerebral giant | Cerebral gigantism | Cerebral gigantism syndrome | Sotos syndrome | Sotos' syndrome | Sotos' syndrome (disorder)
BMGC_DS03949,BMG_DS005787,Lip-pit-cleft lip syndrome | Van der Woude syndrome | Van der Woude syndrome (disorder) | van der Woude syndrome
BMGC_DS03950,BMG_DS005788,Acrocephalosyndactylia | Saethre-Chotzen Syndrome | Saethre-Chotzen syndrome
BMGC_DS03951,BMG_DS005789,Multiple synostosis syndrome | Multiple synostosis syndrome (disorder) | Symphalangism syndrome | calcaneonavicular coalition | multiple synostoses syndrome
BMGC_DS03952,BMG_DS005790,"Aarskog syndrome | Aarskog syndrome (disorder) | Aarskog-Scott syndrome, X-linked | X-linked Aarskog syndrome"
BMGC_DS03953,BMG_DS005791,Williams Syndrome | Williams syndrome | Williams-Beuren syndrome
BMGC_DS03954,BMG_DS005792,Thrombocytopenia-Absent Radius Syndrome | thrombocytopenia-absent radius syndrome
BMGC_DS03955,BMG_DS005793,LEOPARD Syndrome | Noonan syndrome with multiple lentigines
BMGC_DS03956,BMG_DS005794,Asplenia Syndrome | Heterotaxy Syndrome
BMGC_DS03957,BMG_DS005796,Centronuclear myopathy | Centronuclear myopathy (disorder) | Myotubular myopathy | Myotubular myopathy (disorder) | centronuclear myopathy
BMGC_DS03958,BMG_DS005797,AIC - Aicardi syndrome | Aicardi syndrome | Aicardi's syndrome | Aicardi's syndrome (disorder)
BMGC_DS03959,BMG_DS005798,"corpus callosum, agenesis of"
BMGC_DS03960,BMG_DS005800,(Congenital limb deformity NOS) or (pes cavus) or (claw toe) or (dysmorphic toes) or (Larsen's syndrome) | (Congenital limb deformity NOS) or (pes cavus) or (claw toe) or (dysmorphic toes) or (Larsen's syndrome) (disorder) | Cavus - pes | Claw toe | Congenital limb deformity NOS | Dysmorphic toes | Larsen syndrome | Larsen syndrome (disorder) | Larsen's syndrome | Pes cavus
BMGC_DS03961,BMG_DS005801,"autoimmune hemolytic anemia, cold type"
BMGC_DS03962,BMG_DS005803,Post-inflammatory pulmonary fibrosis | Post-inflammatory pulmonary fibrosis (disorder) | Postinflammatory pulmonary fibrosis | postinflammatory pulmonary fibrosis
BMGC_DS03963,BMG_DS005804,Infectious disease of intestine | Intestinal infection | Intestinal infectious disease | Intestinal infectious disease (disorder) | intestinal infectious disease
BMGC_DS03964,BMG_DS005809,Other disorders of central nervous system
BMGC_DS03965,BMG_DS005819,Hypoplastic anaemia | Hypoplastic anemia | Hypoplastic anemia (disorder)
BMGC_DS03966,BMG_DS005820,breast fibroadenoma
BMGC_DS03967,BMG_DS005821,BRA - Bilateral renal agenesis | Bilateral congenital absence of kidneys | Congenital absence of kidneys syndrome | Oligohydramnios sequence | Oligohydramnios sequence (disorder) | Potter sequence | Potter syndrome | Potter's anomaly of the kidney | Potter's syndrome | Renal agenesis syndrome | Renofacial syndrome
BMGC_DS03968,BMG_DS005823,"Cerebral Hypoxia-Ischemia | Hypoxia-Ischemia, Brain"
BMGC_DS03969,BMG_DS005825,Glomerulosclerosis | Glomerulosclerosis (disorder) | glomerulosclerosis
BMGC_DS03970,BMG_DS005829,reproductive organ cancer | reproductive system neoplasm
BMGC_DS03971,BMG_DS005830,Obstructive uropathy | Urinary tract obstruction | Urinary tract obstruction (disorder) | urinary tract obstruction
BMGC_DS03972,BMG_DS005832,cribriform carcinoma
BMGC_DS03973,BMG_DS005833,granular cell carcinoma
BMGC_DS03974,BMG_DS005834,tubular adenocarcinoma
BMGC_DS03975,BMG_DS005835,follicular adenoma
BMGC_DS03976,BMG_DS005836,microcystic adenoma
BMGC_DS03977,BMG_DS005837,papillary adenoma
BMGC_DS03978,BMG_DS005838,"Arenaviridae Infections | Arenaviridae infectious disease | Infections, Arenavirus"
BMGC_DS03979,BMG_DS005840,sarcomatoid carcinoma
BMGC_DS03980,BMG_DS005843,Alpers Syndrome | Alpers-Huttenlocher syndrome | Diffuse Cerebral Sclerosis of Schilder | mitochondrial DNA depletion syndrome 4a
BMGC_DS03981,BMG_DS005844,Pelizaeus-Merzbacher Disease | Pelizaeus-Merzbacher disease | Pelizeaus-Merzbacher spectrum disorder
BMGC_DS03982,BMG_DS005845,Roussy-Levy syndrome
BMGC_DS03983,BMG_DS005847,"Diabetes Mellitus, Type 1 | Diabetes, Autoimmune"
BMGC_DS03984,BMG_DS005849,dysplastic nevus syndrome
BMGC_DS03985,BMG_DS005850,Chronic Cystic Mastitis | Fibrocystic Breast Disease
BMGC_DS03986,BMG_DS005851,fibromyxoid tumor
BMGC_DS03987,BMG_DS005852,subependymal giant cell astrocytoma
BMGC_DS03988,BMG_DS005853,myxopapillary ependymoma
BMGC_DS03989,BMG_DS005854,choroid plexus papilloma
BMGC_DS03990,BMG_DS005855,epithelioid hemangioma | histiocytoid hemangioma
BMGC_DS03991,BMG_DS005856,intramuscular hemangioma
BMGC_DS03992,BMG_DS005857,enterocele
BMGC_DS03993,BMG_DS005858,epithelioid leiomyosarcoma
BMGC_DS03994,BMG_DS005859,myxoid leiomyosarcoma
BMGC_DS03995,BMG_DS005861,pleomorphic lipoma
BMGC_DS03996,BMG_DS005862,dedifferentiated liposarcoma
BMGC_DS03997,BMG_DS005863,pleomorphic liposarcoma
BMGC_DS03998,BMG_DS005865,medullomyoblastoma | medullomyoblastoma with myogenic differentiation
BMGC_DS03999,BMG_DS005866,germ cell cancer | germ cell tumor
BMGC_DS04000,BMG_DS005869,squamous cell papilloma | squamous papilloma
BMGC_DS04001,BMG_DS005870,papilloma | papillomatosis
BMGC_DS04002,BMG_DS005872,pineoblastoma
BMGC_DS04003,BMG_DS005874,"Algodystrophy | Algoneurodystrophy | Algoneurodystrophy (disorder) | CRPS - Complex regional pain syndrome type I | Complex regional pain syndrome type I | Disorders associated with bone growth, unspecified | RSD - Reflex sympathetic dystrophy | Reflex sympathetic dystrophy | Reflex sympathetic dystrophy (disorder) | algoneurodystrophy"
BMGC_DS04004,BMG_DS005875,epithelioid sarcoma
BMGC_DS04005,BMG_DS005876,spindle cell sarcoma
BMGC_DS04006,BMG_DS005877,thymic carcinoma
BMGC_DS04007,BMG_DS005878,AIDS Dementia Complex | HIV Encephalopathy
BMGC_DS04008,BMG_DS005879,"Fatal Familial Insomnia | Insomnia, Fatal Familial | fatal familial insomnia"
BMGC_DS04009,BMG_DS005880,"Caliciviridae Infections | Caliciviridae infectious disease | Infections, Calicivirus"
BMGC_DS04010,BMG_DS005881,"Allergic photosensitivity | Dermatitis, Photoallergic | Immunologic photosensitivity | Photoallergy | Photoallergy (disorder) | Photosensitivity | Photosensitivity (finding) | Photosensitivity of skin"
BMGC_DS04011,BMG_DS005882,"Lung Diseases, Interstitial | Pneumonia, Interstitial"
BMGC_DS04012,BMG_DS005883,"Lung Diseases, Interstitial | interstitial lung disease"
BMGC_DS04013,BMG_DS005884,Microvascular Angina | coronary microvascular disorder
BMGC_DS04014,BMG_DS005885,Focal Epithelial Hyperplasia | focal epithelial hyperplasia
BMGC_DS04015,BMG_DS005886,Hyperandrogenisation syndrome | Hyperandrogenism | Hyperandrogenization syndrome | Hyperandrogenization syndrome (disorder) | hyperandrogenism | obsolete hyperandrogenism
BMGC_DS04016,BMG_DS005887,"Myelinolysis, Central Pontine | central pontine myelinolysis"
BMGC_DS04017,BMG_DS005888,Kleine-Levin Syndrome | Kleine-Levin syndrome
BMGC_DS04018,BMG_DS005889,neuroectodermal tumor
BMGC_DS04019,BMG_DS005892,WAGR Syndrome | WAGR syndrome
BMGC_DS04020,BMG_DS005893,CREST Syndrome | CREST syndrome
BMGC_DS04021,BMG_DS005894,"Lichen Planus, Oral | lichen planus, oral"
BMGC_DS04022,BMG_DS005895,Hypereosinophilic Syndrome | Idiopathic Hypereosinophilic Syndrome | idiopathic hypereosinophilic syndrome
BMGC_DS04023,BMG_DS005896,Hypereosinophilic Syndrome | Loeffler endocarditis | Loeffler's Endocarditis
BMGC_DS04024,BMG_DS005897,Myocardial Stunning | Stunned Myocardium
BMGC_DS04025,BMG_DS005898,Myocardial Stunning | myocardial stunning
BMGC_DS04026,BMG_DS005900,"Myopathies, Nemaline | nemaline myopathy"
BMGC_DS04027,BMG_DS005901,Community-Acquired Infections
BMGC_DS04028,BMG_DS005903,Cytomegalovirus Retinitis | Cytomegalovirus retinitis | cytomegalovirus retinitis
BMGC_DS04029,BMG_DS005904,anaplastic large cell lymphoma
BMGC_DS04030,BMG_DS005905,lymphomatoid papulosis
BMGC_DS04031,BMG_DS005906,oral hairy leukoplakia
BMGC_DS04032,BMG_DS005909,"Amyloid Neuropathies, Familial | familial amyloid neuropathy"
BMGC_DS04033,BMG_DS005910,Amyloid Neuropathies
BMGC_DS04034,BMG_DS005912,Canavan Disease | Canavan disease
BMGC_DS04035,BMG_DS005913,Exfoliation Syndrome | exfoliation syndrome
BMGC_DS04036,BMG_DS005915,"Tuberculosis, Drug-Resistant | Tuberculosis, Multidrug-Resistant | drug-resistant tuberculosis"
BMGC_DS04037,BMG_DS005916,"Tuberculosis, Multidrug-Resistant | multidrug-resistant tuberculosis"
BMGC_DS04038,BMG_DS005918,Endolymphatic Hydrops | endolymphatic hydrops
BMGC_DS04039,BMG_DS005924,Flavivirus Infections
BMGC_DS04040,BMG_DS005930,Cardiovirus Infections | cardiovirus infectious disease
BMGC_DS04041,BMG_DS005932,cystic hygroma | cystic lymphangioma
BMGC_DS04042,BMG_DS005933,adenomyoma
BMGC_DS04043,BMG_DS005934,adenosquamous carcinoma
BMGC_DS04044,BMG_DS005935,hepatoblastoma
BMGC_DS04045,BMG_DS005936,malignant mixed neoplasm | mixed cell type cancer
BMGC_DS04046,BMG_DS005937,carcinosarcoma
BMGC_DS04047,BMG_DS005939,pulmonary blastoma
BMGC_DS04048,BMG_DS005940,endometrial stromal sarcoma | endometrioid stromal sarcoma
BMGC_DS04049,BMG_DS005941,lipoma | tumor of adipose tissue
BMGC_DS04050,BMG_DS005942,angiolipoma
BMGC_DS04051,BMG_DS005943,angiomyolipoma
BMGC_DS04052,BMG_DS005944,myxoid liposarcoma
BMGC_DS04053,BMG_DS005946,mesenchymal chondrosarcoma
BMGC_DS04054,BMG_DS005947,bone giant cell tumor
BMGC_DS04055,BMG_DS005948,osteosarcoma
BMGC_DS04056,BMG_DS005950,juxtacortical osteosarcoma | parosteal osteosarcoma
BMGC_DS04057,BMG_DS005951,fibroblastic neoplasm | fibrosarcoma
BMGC_DS04058,BMG_DS005952,benign fibrous histiocytoma | fibrous histiocytoma
BMGC_DS04059,BMG_DS005953,dermatofibrosarcoma protuberans
BMGC_DS04060,BMG_DS005955,breast fibroadenoma
BMGC_DS04061,BMG_DS005956,clear cell sarcoma
BMGC_DS04062,BMG_DS005957,small cell sarcoma
BMGC_DS04063,BMG_DS005958,angioleiomyoma | angiomyoma
BMGC_DS04064,BMG_DS005959,leiomyomatosis
BMGC_DS04065,BMG_DS005960,alveolar rhabdomyosarcoma
BMGC_DS04066,BMG_DS005961,embryonal rhabdomyosarcoma
BMGC_DS04067,BMG_DS005962,alveolar soft part sarcoma
BMGC_DS04068,BMG_DS005963,smooth muscle tumor
BMGC_DS04069,BMG_DS005964,embryonal carcinoma
BMGC_DS04070,BMG_DS005965,germinoma
BMGC_DS04071,BMG_DS005967,medulloblastoma | primitive neuroectodermal tumor
BMGC_DS04072,BMG_DS005968,teratocarcinoma
BMGC_DS04073,BMG_DS005969,placental site trophoblastic tumor
BMGC_DS04074,BMG_DS005970,adrenal cortex adenoma
BMGC_DS04075,BMG_DS005971,hepatocellular adenoma
BMGC_DS04076,BMG_DS005972,eccrine acrospiroma
BMGC_DS04077,BMG_DS005973,hidrocystoma
BMGC_DS04078,BMG_DS005974,syringoma
BMGC_DS04079,BMG_DS005975,villous adenoma
BMGC_DS04080,BMG_DS005976,adenomatoid tumor
BMGC_DS04081,BMG_DS005977,clear cell adenocarcinoma
BMGC_DS04082,BMG_DS005978,follicular thyroid carcinoma | thyroid gland follicular carcinoma
BMGC_DS04083,BMG_DS005980,sebaceous adenocarcinoma
BMGC_DS04084,BMG_DS005981,acinar cell carcinoma
BMGC_DS04085,BMG_DS005982,adrenal cortex carcinoma | adrenocortical carcinoma
BMGC_DS04086,BMG_DS005983,endometrial carcinoma
BMGC_DS04087,BMG_DS005984,breast lobular carcinoma | invasive lobular carcinoma
BMGC_DS04088,BMG_DS005985,mucoepidermoid carcinoma
BMGC_DS04089,BMG_DS005986,neuroendocrine carcinoma
BMGC_DS04090,BMG_DS005987,signet ring cell adenocarcinoma | signet ring cell carcinoma
BMGC_DS04091,BMG_DS005989,cholangiocarcinoma
BMGC_DS04092,BMG_DS005990,mucinous cystadenocarcinoma
BMGC_DS04093,BMG_DS005991,papillary cystadenocarcinoma
BMGC_DS04094,BMG_DS005992,serous cystadenocarcinoma
BMGC_DS04095,BMG_DS005993,Klatskin's tumor | hilar cholangiocarcinoma
BMGC_DS04096,BMG_DS005994,lung giant cell carcinoma
BMGC_DS04097,BMG_DS005995,large cell carcinoma
BMGC_DS04098,BMG_DS005996,verrucous carcinoma
BMGC_DS04099,BMG_DS005999,basal cell carcinoma | basal cell neoplasm
BMGC_DS04100,BMG_DS006000,pilomatrixoma
BMGC_DS04101,BMG_DS006001,intraductal papilloma
BMGC_DS04102,BMG_DS006003,ganglioglioma
BMGC_DS04103,BMG_DS006004,esthesioneuroblastoma | olfactory neuroblastoma
BMGC_DS04104,BMG_DS006005,ganglioneuroblastoma
BMGC_DS04105,BMG_DS006006,central neurocytoma
BMGC_DS04106,BMG_DS006007,squamous cell neoplasm
BMGC_DS04107,BMG_DS006008,inverted papilloma
BMGC_DS04108,BMG_DS006010,Sertoli-Leydig cell tumor
BMGC_DS04109,BMG_DS006011,sex cord-gonadal stromal tumor | sex cord-stromal tumor
BMGC_DS04110,BMG_DS006012,subependymal glioma | subependymoma
BMGC_DS04111,BMG_DS006013,gliosarcoma
BMGC_DS04112,BMG_DS006014,nerve sheath neoplasm | peripheral nervous system neoplasm
BMGC_DS04113,BMG_DS006015,plexiform neurofibroma
BMGC_DS04114,BMG_DS006016,neurofibrosarcoma
BMGC_DS04115,BMG_DS006018,capillary hemangioma
BMGC_DS04116,BMG_DS006019,hemangioblastoma
BMGC_DS04117,BMG_DS006020,amelanotic melanoma
BMGC_DS04118,BMG_DS006021,blue nevus
BMGC_DS04119,BMG_DS006024,spitz nevus
BMGC_DS04120,BMG_DS006025,rhabdoid cancer | rhabdoid tumor
BMGC_DS04121,BMG_DS006026,"T-Lymphocytopenia, Idiopathic CD4-Positive | idiopathic CD4-positive T-lymphocytopenia"
BMGC_DS04122,BMG_DS006028,Coronavinae infectious disease | Coronavirus Infections
BMGC_DS04123,BMG_DS006032,neuroendocrine neoplasm | neuroendocrine tumor
BMGC_DS04124,BMG_DS006033,congenital deformities of limbs
BMGC_DS04125,BMG_DS006036,Bartholin gland neoplasm | Bartholin's gland benign neoplasm
BMGC_DS04126,BMG_DS006038,brain cancer
BMGC_DS04127,BMG_DS006039,uveal melanoma
BMGC_DS04128,BMG_DS006040,salivary gland cancer
BMGC_DS04129,BMG_DS006041,lip and oral cavity carcinoma
BMGC_DS04130,BMG_DS006045,Acrocephalosyndactylia | Pfeiffer Syndrome | Pfeiffer syndrome
BMGC_DS04131,BMG_DS006046,Acrodysostosis | Acrodysostosis (disorder) | acrodysostosis
BMGC_DS04132,BMG_DS006047,"adactylia, unilateral"
BMGC_DS04133,BMG_DS006048,"ARTHROGRYPOSIS, DISTAL, TYPE 1 | arthrogryposis, distal, type 1A"
BMGC_DS04134,BMG_DS006049,"Blepharophimosis, Ptosis, and Epicanthus Inversus | blepharophimosis, ptosis, and epicanthus inversus syndrome"
BMGC_DS04135,BMG_DS006050,brachydactyly type D
BMGC_DS04136,BMG_DS006051,"ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA | Gordon syndrome"
BMGC_DS04137,BMG_DS006052,congenital contractural arachnodactyly
BMGC_DS04138,BMG_DS006053,benign familial neonatal epilepsy | benign neonatal seizures
BMGC_DS04139,BMG_DS006055,Goldenhar Syndrome | Goldenhar Syndrome with Ipsilateral Radial Defect | oculoauriculovertebral spectrum with radial defects
BMGC_DS04140,BMG_DS006056,achondrogenesis type II
BMGC_DS04141,BMG_DS006057,Aase Smith syndrome | Aase-Smith syndrome
BMGC_DS04142,BMG_DS006058,"KBG syndrome | Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) | Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome"
BMGC_DS04143,BMG_DS006059,"macrocephaly, benign familial"
BMGC_DS04144,BMG_DS006060,"Binder syndrome | Maxillonasal dysplasia, Binder type"
BMGC_DS04145,BMG_DS006061,Microcephaly autosomal dominant | autosomal dominant microcephaly | autosomal dominant primary microcephaly
BMGC_DS04146,BMG_DS006063,polydactyly | postaxial polydactyly
BMGC_DS04147,BMG_DS006064,RETINITIS PIGMENTOSA 1 | retinitis pigmentosa | retinitis pigmentosa 1
BMGC_DS04148,BMG_DS006065,schizophrenia 1
BMGC_DS04149,BMG_DS006066,22q11 microdeletion with velocardiofacial syndrome phenotype | Shprintzen syndrome | Shprintzen syndrome (disorder) | VCF-Velocardiofacial syndrome | Velo-cardio-facial syndrome | Velocardiofacial syndrome | velocardiofacial syndrome
BMGC_DS04150,BMG_DS006067,VACTERL association
BMGC_DS04151,BMG_DS006068,MCAD - Medium chain acyl-CoA dehydrogenase deficiency | MCAD deficiency | Medium chain acyl-CoA dehydrogenase deficiency | Medium-chain acyl-coenzyme A dehydrogenase deficiency | Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | Reye syndrome | Reye's encephalopathy | Reye's syndrome | Reye's syndrome (disorder) | medium chain acyl-CoA dehydrogenase deficiency
BMGC_DS04152,BMG_DS006069,LCAD - Long chain acyl-CoA dehydrogenase deficiency | Long chain acyl-CoA dehydrogenase deficiency | Long chain acyl-coenzyme A dehydrogenase deficiency | Long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | long chain acyl-CoA dehydrogenase deficiency
BMGC_DS04153,BMG_DS006070,"CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY | cataract 46 juvenile-onset"
BMGC_DS04154,BMG_DS006071,Cerebrooculofacioskeletal Syndrome 1 | cerebrooculofacioskeletal syndrome 1
BMGC_DS04155,BMG_DS006072,choanal atresia
BMGC_DS04156,BMG_DS006073,amniotic band syndrome
BMGC_DS04157,BMG_DS006074,DD - Diastrophic dysplasia | DTD - Diastrophic dysplasia | Diastrophic dwarf | Diastrophic dwarfism | Diastrophic dysplasia | Diastrophic dysplasia (disorder) | Diastrophic dysplasia syndrome | Diastrophic nanism syndrome | diastrophic dysplasia
BMGC_DS04158,BMG_DS006075,"Diaphragmatic hernia, abnormal face and distal limb anomalies | Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Fryns syndrome"
BMGC_DS04159,BMG_DS006077,"Bixler Christian Gorlin syndrome | HMC (hypertelorism, microtia, clefting) syndrome | Hypertelorism with microtia and facial clefting syndrome | Hypertelorism with microtia and facial clefting syndrome (disorder) | hypertelorism, microtia, facial clefting syndrome"
BMGC_DS04160,BMG_DS006078,"Childhood hypophosphatasia | Childhood hypophosphatasia (disorder) | Hypophosphatasia, childhood type | Juvenile hypophosphatasia | hypophosphatasia"
BMGC_DS04161,BMG_DS006079,multiple intestinal atresia
BMGC_DS04162,BMG_DS006080,Cartilage-hair hypoplasia | cartilage-hair hypoplasia
BMGC_DS04163,BMG_DS006082,Biotinidase Deficiency | biotinidase deficiency
BMGC_DS04164,BMG_DS006083,"Niemann-Pick Disease, Type C | Niemann-Pick disease type C"
BMGC_DS04165,BMG_DS006084,"Blount disease, infantile | Blount's disease"
BMGC_DS04166,BMG_DS006085,Weaver syndrome | Weaver-Like Syndrome
BMGC_DS04167,BMG_DS006086,Craniofrontonasal dysplasia | Craniofrontonasal dysplasia (disorder) | Craniofrontonasal syndrome | craniofrontonasal syndrome
BMGC_DS04168,BMG_DS006087,FG syndrome | FG syndrome (disorder)
BMGC_DS04169,BMG_DS006088,"Partington syndrome | RUSSELL-SILVER SYNDROME, X-LINKED | Russell-silver syndrome, X-linked"
BMGC_DS04170,BMG_DS006091,metabolic acidosis
BMGC_DS04171,BMG_DS006092,Ketoacidosis | Ketoacidosis (disorder) | Ketosis
BMGC_DS04172,BMG_DS006093,Hereditary orotic aciduria | Hereditary orotic aciduria (disorder) | orotic aciduria
BMGC_DS04173,BMG_DS006094,Xanthinuria | Xanthinuria (disorder) | xanthinuria
BMGC_DS04174,BMG_DS006095,Acquired partial lipodystrophy | Acquired partial lipodystrophy (disorder) | Barraquer syndrome | Barraquer-Simons disease | Barraquer-Simons syndrome | Hollander-Simons syndrome | Lipodystrophic diabetes with partial lipoatrophy | Macrodystrophia lipomatosa progressiva | Partial lipoatrophy | Progressive lipodystrophy | Progressive partial lipodystrophy | acquired partial lipodystrophy
BMGC_DS04175,BMG_DS006096,"Hyperbilirubinemia, Hereditary | Rotor Syndrome | Rotor syndrome"
BMGC_DS04176,BMG_DS006097,Histidase deficiency | Histidinaemia | Histidine ammonia-lyase deficiency | Histidine ammonia-lyase deficiency (disorder) | Histidinemia | Histidinemia (disorder) | histidinemia
BMGC_DS04177,BMG_DS006098,CTH - Cystathioninuria | Cystathionine gamma-lyase deficiency syndrome | Cystathioninuria | Cystathioninuria (disorder) | cystathioninuria
BMGC_DS04178,BMG_DS006099,Hyperammonaemia | Hyperammonemia | Hyperammonemia (disorder)
BMGC_DS04179,BMG_DS006101,Hypothalamic hypothyroidism | Hypothalamic hypothyroidism (disorder) | Hypothyroidism due to TRH deficiency | Tertiary hypothyroidism | isolated thyrotropin-releasing hormone deficiency
BMGC_DS04180,BMG_DS006102,"Hyperparathyroidism, Primary | primary hyperparathyroidism"
BMGC_DS04181,BMG_DS006103,Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome | Mauriac syndrome | Mauriac's syndrome | Mauriac's syndrome (disorder)
BMGC_DS04182,BMG_DS006106,Malignant Atrophic Papulosis | malignant atrophic papulosis
BMGC_DS04183,BMG_DS006108,systemic mastocytosis
BMGC_DS04184,BMG_DS006112,Double heterozygous for Hb S and beta thalassaemia | Double heterozygous for Hb S and beta thalassemia | Haemoglobin S/beta thalassaemia | Hemoglobin S/beta thalassemia | Sickle cell-beta-thalassaemia | Sickle cell-beta-thalassemia | Sickle cell-beta-thalassemia (disorder) | Thalassaemia with haemoglobin S disease | Thalassemia with hemoglobin S disease
BMGC_DS04185,BMG_DS006113,Haemoglobin C-F disease | Hemoglobin C-F disease | Thalassaemia-haemoglobin C disease | Thalassemia-hemoglobin C disease | Thalassemia-hemoglobin C disease (disorder) | hemoglobin C-beta-thalassemia syndrome
BMGC_DS04186,BMG_DS006116,Cyclic neutropenia | Cyclic neutropenia (disorder) | Periodic neutropenia | cyclic hematopoiesis
BMGC_DS04187,BMG_DS006117,Haemangioma-haemorrhage syndrome | Haemangiomatosis with thrombocytopenia | Hemangioma-hemorrhage syndrome | Hemangiomatosis with thrombocytopenia | Kasabach Merritt syndrome | Kasabach-Merritt syndrome | Kasabach-Merritt syndrome (disorder) | Thrombocytopenia-haemangioma syndrome | Thrombocytopenia-hemangioma syndrome
BMGC_DS04188,BMG_DS006118,BTK-deficiency | Bruton tyrosine kinase deficiency | Bruton's agammaglobulinaemia | Bruton's agammaglobulinemia | Bruton's hypogammaglobulinaemia | Bruton's hypogammaglobulinemia | Bruton's type agammaglobulinaemia | Bruton's type agammaglobulinemia | Bruton-type agammaglobulinemia | X linked agammaglobulinaemia | X linked agammaglobulinemia | X-linked agammaglobulinaemia | X-linked agammaglobulinemia | X-linked agammaglobulinemia (disorder) | XLA - X-linked agammaglobulinaemia | XLA - X-linked agammaglobulinemia
BMGC_DS04189,BMG_DS006122,Berardinelli lipodystrophy syndrome | Berardinelli-Seip syndrome | Congenital lipoatrophic diabetes | Congenital lipodystrophic diabetes | Congenital lipodystrophy | Familial generalised lipodystrophy | Familial generalized lipodystrophy | Familial generalized lipodystrophy (disorder) | Familial lipodystrophic diabetes | Generalised lipodystrophy | Generalized lipodystrophy | Lipodystrophy of Berardinelli | Lipodystrophy with muscular hypertrophy | Total lipodystrophy AND acromegaloid gigantism | congenital generalized lipodystrophy
BMGC_DS04190,BMG_DS006125,"AE - Acrodermatitis enteropathica | Acrodermatitis enteropathica | Brandt syndrome | Danbolt-Close syndrome | Danbolt-Closs syndrome | Disorders of zinc metabolism, unspecified | Hereditary acrodermatitis enterohepatica | Hereditary acrodermatitis enteropathica | Hereditary acrodermatitis enteropathica (disorder) | Primary zinc malabsorption | Primary zinc malabsorption syndrome | acrodermatitis enteropathica"
BMGC_DS04191,BMG_DS006130,Liddle Syndrome | Liddle syndrome
BMGC_DS04192,BMG_DS006131,High output heart failure | High output heart failure (disorder) | high output heart failure
BMGC_DS04193,BMG_DS006132,"Syncope | Syncope, Carotid Sinus"
BMGC_DS04194,BMG_DS006135,Beryllium granuloma | Chronic berylliosis | Chronic berylliosis (disorder) | Chronic beryllium disease | Chronic beryllium lung | Chronic beryllium lung disease | Chronic beryllium poisoning | chronic beryllium disease
BMGC_DS04195,BMG_DS006137,"Distal Myopathies | Welander Distal Myopathy | distal myopathy, Welander type"
BMGC_DS04196,BMG_DS006138,paramyotonia congenita of Von Eulenburg
BMGC_DS04197,BMG_DS006142,Devic syndrome | Devic's disease | Neuromyelitis optica | Neuromyelitis optica (disorder) | Optic neuromyelitis | SMON - subacute myelo-optico-neuropathy | Subacute myelo-optic neuropathy
BMGC_DS04198,BMG_DS006143,Mobius Syndrome | Mobius syndrome | Moebius syndrome
BMGC_DS04199,BMG_DS006144,Abortive cerebellar ataxia | Abortive cerebellar ataxia (disorder) | Behr syndrome | Behr syndrome (disorder) | Behr's syndrome I | Infantile hereditary optic atrophy with neurological abnormality | Infantile optic atrophy-ataxia
BMGC_DS04200,BMG_DS006145,Subacute Combined Degeneration
BMGC_DS04201,BMG_DS006146,Anterior Spinal Artery Syndrome | anterior spinal artery syndrome
BMGC_DS04202,BMG_DS006147,postpartum depression
BMGC_DS04203,BMG_DS006151,Episodic hypertension | Paroxysmal hypertension | Paroxysmal hypertension (disorder)
BMGC_DS04204,BMG_DS006153,multifocal atrial tachycardia
BMGC_DS04205,BMG_DS006154,Motor Disorders
BMGC_DS04206,BMG_DS006157,Body of Luys syndrome | Dyskinesias | Hemiballism | Hemiballism (abnormal involuntary movements) | Hemiballism (disorder) | Hemiballismus | Hemiballismus-hemichorea syndrome
BMGC_DS04207,BMG_DS006159,volvulus of midgut
BMGC_DS04208,BMG_DS006163,Centriacinar Emphysema | Pulmonary Emphysema
BMGC_DS04209,BMG_DS006168,"(Sore lip) or (angular stomatitis &/or cheilitis) | (Sore lip) or (angular stomatitis &/or cheilitis) (disorder) | Angular cheilitis | Angular cheilitis (disorder) | Angular cheilosis | Angular stomatitis | Angular stomatitis and cheilitis | Disorder of lips, unspecified | Intertrigo labialis | Migrating cheilosis | Perleche | Perlèche | Perlèche (disorder) | Sore lip | angular cheilitis"
BMGC_DS04210,BMG_DS006169,Mesangial proliferative glomerulonephritis | Mesangial proliferative glomerulonephritis (disorder) | Mesangioproliferative glomerulonephritis | mesangial proliferative glomerulonephritis
BMGC_DS04211,BMG_DS006170,Idiopathic crescentic glomerulonephritis | Idiopathic crescentic glomerulonephritis (disorder) | RPGN - Rapidly progressive glomerulonephritis | Rapidly progressive glomerulonephritis | Rapidly progressive glomerulonephritis (disorder) | rapidly progressive glomerulonephritis
BMGC_DS04212,BMG_DS006173,Dandruff | Pityriasis capitis | Pityriasis sicca | Pityriasis simplex | Pityriasis streptogenes | Scurf | Scurfiness of scalp | Scurfiness of scalp (disorder) | Seborrhea capitis | Seborrhea sicca | Seborrheic dermatitis of scalp | Seborrheic dermatitis of scalp (disorder) | Seborrheic eczema of scalp | Seborrhoea capitis | Seborrhoea sicca | Seborrhoeic dermatitis of scalp | Seborrhoeic dermatitis of scalp (disorder) | Seborrhoeic eczema of scalp | seborrheic infantile dermatitis
BMGC_DS04213,BMG_DS006176,(Hair/hair follicle disease NOS) or (ingrowing hair) or (trichiasis) or (Wuchereria infestation) | (Hair/hair follicle disease NOS) or (ingrowing hair) or (trichiasis) or (Wuchereria infestation) (disorder) | Entropion &/or trichiasis of eyelid | Entropion &/or trichiasis of eyelid (disorder) | Entropion and trichiasis of eyelid | Hair/hair follicle disease NOS | Ingrowing hair | Malposition of eyelashes | Trichiasis | Trichiasis (disorder) | Trichiasis - eyelid | Wuchereria infestation
BMGC_DS04214,BMG_DS006177,Dystrophia unguium | Dystrophia unguium (disorder) | Dystrophic nail | Nail dystrophy | Onychodystrophy
BMGC_DS04215,BMG_DS006178,Poliosis | Poliosis (disorder)
BMGC_DS04216,BMG_DS006182,Elastosis perforans | Elastosis perforans serpiginosa | Elastosis perforans serpiginosa (disorder) | Keratosis follicularis serpiginosa | Miescher's elastoma | Other specified perforating dermatoses | Perforating elastoma | Perforating elastosis | Perforating serpiginous elastosis | elastosis perforans serpiginosa
BMGC_DS04217,BMG_DS006184,Benign polycythaemia | Benign polycythaemia due to fall in plasma volume | Benign polycythemia | Benign polycythemia due to fall in plasma volume | Gaisbock's syndrome | Pseudo-polycythaemia | Relative erythrocytosis | Relative erythrocytosis (disorder) | Relative polycythaemia | Relative polycythemia | Relative polycythemia (disorder) | Spurious polycythaemia | Spurious polycythemia
BMGC_DS04218,BMG_DS006185,Paget disease of the penis | penis Paget's disease
BMGC_DS04219,BMG_DS006187,"Benign synovioma | Synovioma, benign | Synovioma, benign (morphologic abnormality) | benign synovial neoplasm | nodular tenosynovitis"
BMGC_DS04220,BMG_DS006188,chondromyxoid fibroma
BMGC_DS04221,BMG_DS006190,Hereditary lymphedema and yellow nails | Hereditary lymphedema and yellow nails (disorder) | Hereditary lymphoedema and yellow nails | Yellow nail syndrome | yellow nail syndrome
BMGC_DS04222,BMG_DS006191,megalencephaly
BMGC_DS04223,BMG_DS006192,brachydactyly
BMGC_DS04224,BMG_DS006193,bifid nose
BMGC_DS04225,BMG_DS006204,"Endocarditis, Non-Infective | Non-Bacterial Thrombotic Endocarditis | marantic endocarditis | nonbacterial thrombotic endocarditis"
BMGC_DS04226,BMG_DS006206,Atrophic Vaginitis
BMGC_DS04227,BMG_DS006209,Hypopituitarism | Pituitary cachexia | Pituitary cachexia (disorder) | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type IB | isolated growth hormone deficiency type III
BMGC_DS04228,BMG_DS006210,Cushing basophilism | Cushing disease | Cushing disease due to pituitary adenoma | Cushing's disease | Pituitary Cushing syndrome | Pituitary dependent Cushing disease | Pituitary dependent hypercortisolism | Pituitary hyperadrenal corticism | Pituitary-dependent Cushing's disease | Pituitary-dependent Cushing's disease (disorder) | Pituitarydependent Cushing disease | pituitary-dependent Cushing's disease
BMGC_DS04229,BMG_DS006213,VDDR - vitamin D-dependent rickets | Vitamin D-dependent rickets | Vitamin D-dependent rickets (disorder) | vitamin D-dependent rickets
BMGC_DS04230,BMG_DS006215,alpha 1-Antitrypsin Deficiency | alpha 1-antitrypsin deficiency
BMGC_DS04231,BMG_DS006216,Brachial Plexus Neuritis | brachial plexus neuritis
BMGC_DS04232,BMG_DS006221,nontoxic goiter
BMGC_DS04233,BMG_DS006222,vaginal discharge
BMGC_DS04234,BMG_DS006230,Adult premature ageing syndrome | Adult premature aging syndrome | Premature ageing syndrome | Premature aging syndrome | Premature aging syndrome (disorder) | Progeria | Progeria (disorder) | Progeria syndrome | premature aging syndrome
BMGC_DS04235,BMG_DS006270,Benign postural proteinuria | Orthostatic albuminuria | Orthostatic proteinuria | Orthostatic proteinuria (disorder) | Orthostatic proteinuria (finding) | Postural albuminuria | Postural proteinuria | orthostatic proteinuria
BMGC_DS04236,BMG_DS006298,Primary physiologic amenorrhea | Primary physiologic amenorrhea (finding) | Primary physiologic amenorrhoea
BMGC_DS04237,BMG_DS006299,Secondary physiologic amenorrhea | Secondary physiologic amenorrhea (finding) | Secondary physiologic amenorrhoea
BMGC_DS04238,BMG_DS006304,spermatogenic failure 4
BMGC_DS04239,BMG_DS006325,animal phobia
BMGC_DS04240,BMG_DS006327,anterograde amnesia
BMGC_DS04241,BMG_DS006342,hyperekplexia
BMGC_DS04242,BMG_DS006346,"Neuralgia | Neuralgia, Atypical"
BMGC_DS04243,BMG_DS006347,"Neuralgia | Neuralgia, Stump"
BMGC_DS04244,BMG_DS006355,"Taste Disorder, Primary | Taste Disorders"
BMGC_DS04245,BMG_DS006356,"Taste Disorder, Primary, Sweet | Taste Disorders"
BMGC_DS04246,BMG_DS006357,"Taste Disorder, Primary, Salt | Taste Disorders"
BMGC_DS04247,BMG_DS006358,"Taste Disorder, Primary, Bitter | Taste Disorders"
BMGC_DS04248,BMG_DS006360,"Taste Disorder, Anterior Tongue | Taste Disorders"
BMGC_DS04249,BMG_DS006361,"Taste Disorder, Secondary | Taste Disorders"
BMGC_DS04250,BMG_DS006362,"Taste Disorder, Secondary, Sweet | Taste Disorders"
BMGC_DS04251,BMG_DS006363,"Taste Disorder, Secondary, Salt | Taste Disorders"
BMGC_DS04252,BMG_DS006364,"Taste Disorder, Secondary, Bitter | Taste Disorders"
BMGC_DS04253,BMG_DS006367,"Taste Disorder, Posterior Tongue | Taste Disorders"
BMGC_DS04254,BMG_DS006370,"Motor Disorder, Vagus Nerve | Vagus Nerve Diseases"
BMGC_DS04255,BMG_DS006371,"Sensory Disorder, Vagus Nerve | Vagus Nerve Diseases"
BMGC_DS04256,BMG_DS006381,visual cortex disease | visual cortex disorder
BMGC_DS04257,BMG_DS006395,prosopagnosia
BMGC_DS04258,BMG_DS006396,ideomotor apraxia
BMGC_DS04259,BMG_DS006397,Generalized seizures
BMGC_DS04260,BMG_DS006399,Clonic Seizures | Seizures
BMGC_DS04261,BMG_DS006419,"Vertigo | Vertigo, Brain Stem"
BMGC_DS04262,BMG_DS006420,acneiform dermatitis
BMGC_DS04263,BMG_DS006421,Annular Erythema | annular erythema
BMGC_DS04264,BMG_DS006426,"Epilepsies, Partial | Simple Partial Seizures"
BMGC_DS04265,BMG_DS006427,Motor cortex epilepsy | Primary motor cortex frontal lobe epilepsy | Primary motor cortex frontal lobe epilepsy (disorder) | primary motor cortex epilepsy
BMGC_DS04266,BMG_DS006429,Motor neuritis | Motor peripheral neuropathy | Peripheral motor neuropathy | Peripheral motor neuropathy (disorder) | motor nerve neuritis | motor neuritis
BMGC_DS04267,BMG_DS006430,"Neuritis | Neuritis, Sensory"
BMGC_DS04268,BMG_DS006431,toxic encephalopathy
BMGC_DS04269,BMG_DS006435,Accommodative paresis | Ciliary muscle paresis | Cycloplegia | Cycloplegia (disorder) | Cycloplegic paralysis of accommodation | Loss of accommodation | Paralysis of accommodation | Paresis of accommodation | Visual accommodation paralysis | cycloplegia
BMGC_DS04270,BMG_DS006436,Keratopathy | keratopathy
BMGC_DS04271,BMG_DS006445,Granulomatous hepatitis | Granulomatous hepatitis (disorder) | granulomatous hepatitis
BMGC_DS04272,BMG_DS006447,Ketonaemia | Ketonemia | Ketonemia (disorder) | Ketosis
BMGC_DS04273,BMG_DS006451,AF - Paroxysmal atrial fibrillation | Intermittent atrial fibrillation | PAF - Paroxysmal atrial fibrillation | Paroxysmal atrial fibrillation | Paroxysmal atrial fibrillation (disorder) | paroxysmal atrial fibrillation
BMGC_DS04274,BMG_DS006453,peripheral ischemia
BMGC_DS04275,BMG_DS006458,"Heart Failure | Heart Failure, Right-Sided"
BMGC_DS04276,BMG_DS006463,Submandibular adenitis | Submandibular lymphadenitis | Submandibular lymphadenitis (disorder) | submandibular adenitis
BMGC_DS04277,BMG_DS006464,Cervical lymphadenopathy | Cervical lymphadenopathy (disorder)
BMGC_DS04278,BMG_DS006466,qualitative platelet defect
BMGC_DS04279,BMG_DS006467,Proliferative glomerulonephritis | Proliferative glomerulonephritis (disorder) | proliferative glomerulonephritis
BMGC_DS04280,BMG_DS006471,bladder transitional cell papilloma | urothelial papilloma
BMGC_DS04281,BMG_DS006473,malignant ovarian cyst
BMGC_DS04282,BMG_DS006474,gallbladder carcinoma
BMGC_DS04283,BMG_DS006476,neonatal leukemia
BMGC_DS04284,BMG_DS006477,Neonatal urinary tract infection | Neonatal urinary tract infection (disorder) | neonatal urinary tract infectious disease
BMGC_DS04285,BMG_DS006478,Neonatal encephalopathy | Neonatal encephalopathy (disorder)
BMGC_DS04286,BMG_DS006479,congenital diaphragmatic hernia
BMGC_DS04287,BMG_DS006481,(Neonatal diarrhea) or (neonatal chloridorrhea) | (Neonatal diarrhoea) or (neonatal chloridorrhoea) | (Neonatal diarrhoea) or (neonatal chloridorrhoea) (disorder) | Neonatal chloridorrhea | Neonatal chloridorrhoea | Neonatal diarrhea | Neonatal diarrhea (disorder) | Neonatal diarrhoea
BMGC_DS04288,BMG_DS006485,hypertrichosis lanuginosa congenita
BMGC_DS04289,BMG_DS006486,Mononeuritis | Mononeuritis (disorder) | Mononeuropathies | mononeuritis | mononeuritis simplex
BMGC_DS04290,BMG_DS006493,Cerebral atrophy | Cerebral atrophy (disorder) | Cerebral degeneration NOS | Cerebral degeneration: [NOS] or [cerebral atrophy] | Cerebral degeneration: [NOS] or [cerebral atrophy] (disorder)
BMGC_DS04291,BMG_DS006494,Zinc deficiency | Zinc deficiency (disorder)
BMGC_DS04292,BMG_DS006495,Clostridium difficile diarrhea | Clostridium difficile diarrhea (disorder) | Clostridium difficile diarrhoea
BMGC_DS04293,BMG_DS006498,exocrine pancreatic carcinoma | pancreatic carcinoma
BMGC_DS04294,BMG_DS006503,Fetal valproate spectrum disorder | Fetal valproate syndrome | Fetal valproate syndrome (disorder) | Foetal valproate spectrum disorder | fetal valproate syndrome
BMGC_DS04295,BMG_DS006505,Congenital hearing disorder | Congenital hearing disorder (disorder)
BMGC_DS04296,BMG_DS006506,"Polyposis, Gastric | stomach polyp"
BMGC_DS04297,BMG_DS006512,Gastrointestinal obstruction | Gastrointestinal obstruction (disorder)
BMGC_DS04298,BMG_DS006514,Pick Disease of the Brain | Pick disease | Pick's disease
BMGC_DS04299,BMG_DS006516,(Alcoholic psychosis: [Korsakov's] or [other]) or (withdrawal syndrome - alcohol) | (Alcoholic psychosis: [Korsakov's] or [other]) or (withdrawal syndrome - alcohol) (disorder) | Alcohol withdrawal | Alcohol withdrawal syndrome | Alcohol withdrawal syndrome (disorder) | Korsakov psychosis | Korsakov's psychosis | Other alcoholic psychoses | Withdrawal syndrome - alcohol | alcohol withdrawal
BMGC_DS04300,BMG_DS006517,Alcohol Related Disorders | Alcohol-Related Disorders | alcohol-related disorders
BMGC_DS04301,BMG_DS006519,Cannabis-Related Disorder | Marijuana Abuse
BMGC_DS04302,BMG_DS006520,bipolar I disorder
BMGC_DS04303,BMG_DS006521,bipolar disorder
BMGC_DS04304,BMG_DS006522,bipolar II disorder
BMGC_DS04305,BMG_DS006523,childhood disintegrative disease | childhood disintegrative disorder
BMGC_DS04306,BMG_DS006524,Asperger syndrome
BMGC_DS04307,BMG_DS006526,dissociative amnesia
BMGC_DS04308,BMG_DS006528,specific phobia
BMGC_DS04309,BMG_DS006531,Chronobiology Disorders
BMGC_DS04310,BMG_DS006533,expressive language disorder
BMGC_DS04311,BMG_DS006534,mixed receptive-expressive language disorder
BMGC_DS04312,BMG_DS006535,Neuroleptic-induced parkinsonism | Parkinsonism caused by neuroleptic drug | Parkinsonism caused by neuroleptic drug (disorder)
BMGC_DS04313,BMG_DS006542,substance-related disorder
BMGC_DS04314,BMG_DS006543,Alcohol-Induced Disorders | alcohol-induced disorders
BMGC_DS04315,BMG_DS006545,dermoid cyst of ovary
BMGC_DS04316,BMG_DS006547,Gastrointestinal ulcer | Gastrointestinal ulcer (disorder)
BMGC_DS04317,BMG_DS006551,Toxic amblyopia | Toxic amblyopia (disorder) | toxic amblyopia
BMGC_DS04318,BMG_DS006552,G-6-PD deficiency anaemia | G-6-PD deficiency anemia | G6PD deficiency anaemia | G6PD deficiency anemia | Glucose-6-phosphate dehydrogenase deficiency | Glucose-6-phosphate dehydrogenase deficiency anaemia | Glucose-6-phosphate dehydrogenase deficiency anemia | Glucose-6-phosphate dehydrogenase deficiency anemia (disorder)
BMGC_DS04319,BMG_DS006554,appendix adenocarcinoma
BMGC_DS04320,BMG_DS006556,Invasive aspergillosis | Invasive aspergillosis (disorder) | invasive aspergillosis
BMGC_DS04321,BMG_DS006558,Autonomic Dysreflexia | autonomic dysreflexia
BMGC_DS04322,BMG_DS006559,Bartholin gland adenocarcinoma | Bartholin's gland adenocarcinoma
BMGC_DS04323,BMG_DS006560,extrahepatic bile duct carcinoma
BMGC_DS04324,BMG_DS006561,"Botulism | Botulism, Infantile | infant botulism"
BMGC_DS04325,BMG_DS006562,brain ependymoma | ependymal tumor of brain
BMGC_DS04326,BMG_DS006563,breast malignant phyllodes tumor | breast phyllodes tumor
BMGC_DS04327,BMG_DS006565,breast duct papilloma | intraductal breast papilloma
BMGC_DS04328,BMG_DS006567,Concentric hypertrophic cardiomyopathy
BMGC_DS04329,BMG_DS006570,"Cerebral Angiitis | Vasculitis, Central Nervous System"
BMGC_DS04330,BMG_DS006571,"Xanthomatosis, Cerebrotendinous | cerebrotendinous xanthomatosis"
BMGC_DS04331,BMG_DS006572,"Chorea | Chorea, Senile"
BMGC_DS04332,BMG_DS006574,Chronic intestinal pseudo-obstruction | Chronic intestinal pseudo-obstruction (disorder) | chronic intestinal pseudoobstruction
BMGC_DS04333,BMG_DS006575,"Liver Cirrhosis, Biliary | Secondary Biliary Cholangitis"
BMGC_DS04334,BMG_DS006576,"Colitis, Collagenous | collagenous colitis"
BMGC_DS04335,BMG_DS006578,Cranial Epidural Abscess | Epidural Abscess
BMGC_DS04336,BMG_DS006582,Acute endometritis | Acute endometritis (disorder) | acute endometritis
BMGC_DS04337,BMG_DS006586,Cutis verticis gyrata | Cutis verticis gyrata (disorder) | Lennox-Gastaut syndrome | Lennox-Gastaut syndrome (disorder)
BMGC_DS04338,BMG_DS006590,(Eunuchism) or (Kallman's syndrome) | Eunuchism | Eunuchism (disorder) | Kallman's syndrome | Kallmann's syndrome | eunuchism
BMGC_DS04339,BMG_DS006592,fallopian tube carcinoma
BMGC_DS04340,BMG_DS006593,"Necrotising fasciitis | Necrotising fasciitis (disorder) | Necrotising fasciitis, unspecified | Necrotizing fasciitis | Necrotizing fasciitis (disorder) | necrotizing fasciitis"
BMGC_DS04341,BMG_DS006597,focal embolic glomerulonephritis
BMGC_DS04342,BMG_DS006599,heart sarcoma
BMGC_DS04343,BMG_DS006602,Haemoglobin E disease | Haemoglobin E-E disease | Hemoglobin E disease | Hemoglobin E disease (disorder) | Hemoglobin E-E disease | Homozygous for Hb E | hemoglobin E disease
BMGC_DS04344,BMG_DS006608,"Myositis, Inclusion Body | inclusion body myositis"
BMGC_DS04345,BMG_DS006609,small intestine carcinoma
BMGC_DS04346,BMG_DS006610,small intestine leiomyoma
BMGC_DS04347,BMG_DS006611,gastrointestinal stromal tumor
BMGC_DS04348,BMG_DS006612,kidney fibrosarcoma
BMGC_DS04349,BMG_DS006616,hemangioma of liver | liver hemangioma
BMGC_DS04350,BMG_DS006618,Adolescent lymphedema | Adolescent lymphedema (disorder) | Adolescent lymphoedema | Hereditary lymphedema type II | Hereditary lymphedema type II (disorder) | Hereditary lymphoedema type II | Infantile lymphedema (praecox) | Infantile lymphoedema (praecox) | Lymphedema praecox | Lymphedema praecox (disorder) | Lymphoedema praecox | Meige disease | Meige lymphedema | Meige lymphoedema | hereditary lymphedema II
BMGC_DS04351,BMG_DS006619,Marchiafava-Bignami Disease | Marchiafava-Bignami disease
BMGC_DS04352,BMG_DS006622,"Infarction, Middle Cerebral Artery | Middle Cerebral Artery Syndrome"
BMGC_DS04353,BMG_DS006624,Mucolipidoses | Mucolipidosis Type IV | mucolipidosis type IV
BMGC_DS04354,BMG_DS006625,"Muscular Dystrophy, Facioscapulohumeral | facioscapulohumeral muscular dystrophy"
BMGC_DS04355,BMG_DS006626,Hypothyroid coma | Myxedema coma | Myxedema coma (disorder) | Myxoedema coma | Myxoedema coma (disorder)
BMGC_DS04356,BMG_DS006627,nasopharynx carcinoma
BMGC_DS04357,BMG_DS006630,Ischaemic peripheral neuropathy | Ischemic peripheral neuropathy | Ischemic peripheral neuropathy (disorder) | ischemic neuropathy
BMGC_DS04358,BMG_DS006632,ovarian germ cell cancer | ovarian germ cell tumor
BMGC_DS04359,BMG_DS006633,scrotum Paget disease | scrotum Paget's disease
BMGC_DS04360,BMG_DS006635,pancreatic cystadenocarcinoma
BMGC_DS04361,BMG_DS006636,Hereditary pancreatitis | Hereditary pancreatitis (disorder) | hereditary chronic pancreatitis
BMGC_DS04362,BMG_DS006638,penis squamous cell carcinoma | squamous cell carcinoma of penis
BMGC_DS04363,BMG_DS006641,penile sarcoma | penis sarcoma
BMGC_DS04364,BMG_DS006643,Adynamia episodica hereditaria | Familial hyperkalaemic periodic paralysis | Familial hyperkalemic periodic paralysis | Familial hyperkalemic periodic paralysis (disorder) | Gamstorp disease | Hyperkalaemic periodic paralysis | Hyperkalemic periodic paralysis | Hyperkalemic periodic paralysis (disorder) | Myotonic periodic paralysis | Periodic paralysis II | hyperkalemic periodic paralysis
BMGC_DS04365,BMG_DS006644,Familial hypokalaemic periodic paralysis | Familial hypokalemic periodic paralysis | Familial hypokalemic periodic paralysis (disorder) | HOKPP - hypokalaemic periodic paralysis | HOKPP - hypokalemic periodic paralysis | Hypokalaemic periodic paralysis | Hypokalemic periodic paralysis | Hypokalemic periodic paralysis (disorder) | Periodic paralysis I | hypokalemic periodic paralysis
BMGC_DS04366,BMG_DS006650,Pneumoconiosis caused by talc | Pneumoconiosis caused by talc (disorder) | Pulmonary talcosis | Talc lung disease | Talc pneumoconiosis | Talc workers' pneumoconiosis | Talcosis | pneumoconiosis due to talc | pulmonary talcosis
BMGC_DS04367,BMG_DS006651,Desquamative interstitial pneumonia | Desquamative interstitial pneumonitis | Desquamative interstitial pneumonitis (disorder) | desquamative interstitial pneumonia
BMGC_DS04368,BMG_DS006652,prostate sarcoma
BMGC_DS04369,BMG_DS006653,Pycnodysostosis | Pycnodysostosis (disorder) | pycnodysostosis
BMGC_DS04370,BMG_DS006655,renal pelvis squamous cell carcinoma
BMGC_DS04371,BMG_DS006659,Selenium deficiency | Selenium deficiency (disorder)
BMGC_DS04372,BMG_DS006660,Haemoglobin SS disease with crisis | Hemoglobin SS disease with crisis | Hemoglobin SS disease with crisis (disorder) | Sickle cell anaemia with crisis | Sickle cell anemia with crisis | Sickle cell crisis
BMGC_DS04373,BMG_DS006661,spinal cord ependymoma
BMGC_DS04374,BMG_DS006662,"Epidural Abscess | Epidural Abscess, Spinal"
BMGC_DS04375,BMG_DS006667,embryonal testis carcinoma | testicular embryonal carcinoma
BMGC_DS04376,BMG_DS006668,choriocarcinoma of testis | choriocarcinoma of the testis
BMGC_DS04377,BMG_DS006670,Cavernous Sinus Thrombosis | cavernous sinus thrombosis
BMGC_DS04378,BMG_DS006672,thyroid gland undifferentiated (anaplastic) carcinoma
BMGC_DS04379,BMG_DS006673,medullary thyroid carcinoma | medullary thyroid gland carcinoma
BMGC_DS04380,BMG_DS006674,papillary thyroid carcinoma | thyroid gland papillary carcinoma
BMGC_DS04381,BMG_DS006677,TEC - Transient erythroblastopenia of childhood | Transient erythroblastopenia of childhood | Transient erythroblastopenia of childhood (disorder) | transient erythroblastopenia of childhood
BMGC_DS04382,BMG_DS006678,Prolapse of urethra | Prolapse of urethra (disorder) | Urethrocele | Urethrocoele | prolapse of urethra
BMGC_DS04383,BMG_DS006679,posterior urethral valve
BMGC_DS04384,BMG_DS006681,vagina sarcoma
BMGC_DS04385,BMG_DS006682,vulva sarcoma | vulvar sarcoma
BMGC_DS04386,BMG_DS006683,Infection by Yersinia enterocolitica | Infection caused by Yersinia enterocolitica | Infection caused by Yersinia enterocolitica (disorder)
BMGC_DS04387,BMG_DS006684,Acrogeria | Acrogeria (disorder) | Gottron's syndrome
BMGC_DS04388,BMG_DS006685,"(Urine amino acids) or (aminoaciduria) | (Urine amino acids) or (aminoaciduria) (procedure) | Amino-acids, urine | Aminoaciduria | Aminoaciduria (disorder) | Aminoaciduria (finding) | Urine amino acids"
BMGC_DS04389,BMG_DS006689,brain angioma | brain hemangioma
BMGC_DS04390,BMG_DS006695,Conjunctival telangiectasis | Conjunctival telangiectasis (disorder)
BMGC_DS04391,BMG_DS006697,Candida of esophagus | Candidiasis of esophagus | Candidiasis of oesophagus | Candidiasis of the esophagus | Candidiasis of the esophagus (disorder) | Candidiasis of the oesophagus | Candidosis of esophagus | Candidosis of oesophagus | Esophageal thrush | Oesophageal thrush | esophageal candidiasis
BMGC_DS04392,BMG_DS006705,"Color Blindness, Green | Color Vision Defects"
BMGC_DS04393,BMG_DS006708,"Harlequin Fetus | Ichthyosis, Lamellar"
BMGC_DS04394,BMG_DS006709,"Fibrosis, Liver | Liver Cirrhosis"
BMGC_DS04395,BMG_DS006710,Hypoalbuminaemia | Hypoalbuminemia | Hypoalbuminemia (disorder) | Serum albumin low
BMGC_DS04396,BMG_DS006711,coloboma of iris
BMGC_DS04397,BMG_DS006714,larynx squamous papilloma
BMGC_DS04398,BMG_DS006718,"Nystagmus, Pathologic | Rotary Nystagmus"
BMGC_DS04399,BMG_DS006723,cerebral lymphoma
BMGC_DS04400,BMG_DS006725,Rheumatoid Vasculitis | rheumatoid vasculitis
BMGC_DS04401,BMG_DS006726,congenital vertical talus
BMGC_DS04402,BMG_DS006727,sensory ataxia
BMGC_DS04403,BMG_DS006728,"creatine phosphokinase, elevated serum"
BMGC_DS04404,BMG_DS006730,Erosion of skin | Superficial ulcer of skin | Superficial ulcer of skin (disorder)
BMGC_DS04405,BMG_DS006737,adhesions of uterus
BMGC_DS04406,BMG_DS006744,Cerebrovascular Disorders | Cerebrovascular Insufficiency
BMGC_DS04407,BMG_DS006750,"Hematuria, Benign Familial | hematuria, benign familial"
BMGC_DS04408,BMG_DS006751,"Autoimmune Chronic Hepatitis | Hepatitis, Autoimmune | autoimmune hepatitis"
BMGC_DS04409,BMG_DS006755,X-linked hypogammaglobulinaemia | X-linked hypogammaglobulinemia | X-linked hypogammaglobulinemia (disorder)
BMGC_DS04410,BMG_DS006758,kidney angiomyolipoma
BMGC_DS04411,BMG_DS006762,vulvar melanoma
BMGC_DS04412,BMG_DS006765,Sciatic Neuritis | Sciatic Neuropathy
BMGC_DS04413,BMG_DS006766,"Pancreatitis | Pancreatitis, Acute Edematous"
BMGC_DS04414,BMG_DS006770,Pulmonary congestion | Pulmonary congestion (disorder)
BMGC_DS04415,BMG_DS006773,Thrombotic Stroke
BMGC_DS04416,BMG_DS006778,Pelvic Inflammatory Disease | pelvic inflammatory disease
BMGC_DS04417,BMG_DS006779,"Jaundice | Jaundice, Hemolytic"
BMGC_DS04418,BMG_DS006781,Calcium Pyrophosphate Dihydrate Deposition | Chondrocalcinosis
BMGC_DS04419,BMG_DS006782,Color blindness | Color blindness (disorder) | Color vision deficiency | Color vision deficiency (disorder) | Colour blindness | Colour blindness (disorder) | Colour vision deficiency | Impairment of colour vision | No color perception | No colour perception | color blindness
BMGC_DS04420,BMG_DS006783,Coronary Stenosis | coronary stenosis
BMGC_DS04421,BMG_DS006785,"Fibrous Dysplasia, Polyostotic | McCune-Albright Syndrome | McCune-Albright syndrome"
BMGC_DS04422,BMG_DS006786,heavy chain disease | mu-heavy chain disease
BMGC_DS04423,BMG_DS006789,Dyslipidemias
BMGC_DS04424,BMG_DS006790,Sexual Infantilism
BMGC_DS04425,BMG_DS006791,Hypopituitarism | Sheehan Syndrome | Sheehan syndrome
BMGC_DS04426,BMG_DS006792,Deficient secretion of all pituitary hormones | Hypopituit (& [panhypopituitarism]) | Hypopituit (& [panhypopituitarism]) (disorder) | Hypopituit/panhypopituitarism | Hypopituitarism | Hypopituitarism NOS | Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism] | Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism] (disorder) | Panhypopituitarism | Panhypopituitarism (disorder) | Primary hypopituitarism | Sheehan's syndrome | Simmond's disease | Simmonds' disease | combined pituitary hormone deficiency | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type IB | isolated growth hormone deficiency type III | panhypopituitarism
BMGC_DS04427,BMG_DS006793,Erectile dysfunction | Erectile dysfunction (disorder) | Failure of erection | Impotence | Impotence (disorder) | Male erectile disorder | Male erectile disorder (disorder) | Sexual impotence | erectile dysfunction
BMGC_DS04428,BMG_DS006794,"Congenital Disorders | Congenital, Hereditary, and Neonatal Diseases and Abnormalities"
BMGC_DS04429,BMG_DS006795,islet cell tumor
BMGC_DS04430,BMG_DS006796,lung cancer
BMGC_DS04431,BMG_DS006797,"Libman-Sacks Disease | Libman-Sacks endocarditis | Lupus Erythematosus, Systemic"
BMGC_DS04432,BMG_DS006798,Lyme Arthritis | Lyme Disease
BMGC_DS04433,BMG_DS006799,AAMD - Age related macular degeneration | AMD - Age-related macular degeneration | ARMD - Age-related macular degeneration | Age related macular degeneration | Age related macular degeneration (disorder) | Age-related macular degeneration | Age-related macular degeneration (disorder) | SMD - Senile macular degeneration | Senile macular degeneration | Senile macular retinal degeneration | age related macular degeneration | age-related macular degeneration
BMGC_DS04434,BMG_DS006800,Mandibulofacial Dysostosis | Treacher Collins syndrome | Treacher-Collins syndrome | mandibulofacial dysostosis
BMGC_DS04435,BMG_DS006803,optic papillitis | retinal edema
BMGC_DS04436,BMG_DS006804,Parkinsonian Disorders | parkinsonian disorder
BMGC_DS04437,BMG_DS006805,Parkinsonian Disorders | Ramsay Hunt Paralysis Syndrome
BMGC_DS04438,BMG_DS006806,Chylopericardium | Chylopericardium (disorder) | Pericardial Effusion
BMGC_DS04439,BMG_DS006807,Loeffler syndrome | Pulmonary Eosinophilia | Simple Pulmonary Eosinophilia
BMGC_DS04440,BMG_DS006808,"IgA Vasculitis | Purpura, Nonthrombocytopenic"
BMGC_DS04441,BMG_DS006809,Enthesopathy | Enthesopathy (disorder) | enthesopathy
BMGC_DS04442,BMG_DS006811,"Paroxysmal Reciprocal Tachycardia | Tachycardia, Paroxysmal"
BMGC_DS04443,BMG_DS006813,"Gonadal Dysgenesis, 45,X | Turner Syndrome | monosomy X"
BMGC_DS04444,BMG_DS006814,Azotaemia | Azotemia | Azotemia (disorder)
BMGC_DS04445,BMG_DS006817,Ocular Motility Disorders | Opsoclonia | Opsoclonia (finding) | Opsoclonus | Opsoclonus (finding)
BMGC_DS04446,BMG_DS006818,Bare Lymphocyte Syndrome | MHC class II deficiency | Severe Combined Immunodeficiency
BMGC_DS04447,BMG_DS006819,Autoimmune thrombocytopenia | Autoimmune thrombocytopenia (disorder) | Autoimmune thrombocytopenic purpura | Chronic idiopathic thrombocytopenic purpura | Chronic idiopathic thrombocytopenic purpura (disorder) | Chronic thrombocytopenic purpura | Primary ITP (immune thrombocytopenia) | Purpura haemorrhagica | Purpura hemorrhagica | Werlhof's disease | autoimmune thrombocytopenia
BMGC_DS04448,BMG_DS006820,Leukocyte-Adhesion Deficiency Syndrome | leukocyte adhesion deficiency
BMGC_DS04449,BMG_DS006823,Brown-Sequard Syndrome | Brown-Sequard syndrome
BMGC_DS04450,BMG_DS006824,Blue Toe Syndrome | blue toe syndrome
BMGC_DS04451,BMG_DS006825,MALT lymphoma
BMGC_DS04452,BMG_DS006826,Protein S Deficiency | protein S deficiency
BMGC_DS04453,BMG_DS006830,"Bone Demineralization, Pathologic"
BMGC_DS04454,BMG_DS006831,Space Motion Sickness | space motion sickness
BMGC_DS04455,BMG_DS006833,Bronchiolitis Obliterans Organizing Pneumonia | Cryptogenic Organizing Pneumonia | cryptogenic organizing pneumonia
BMGC_DS04456,BMG_DS006834,male breast cancer
BMGC_DS04457,BMG_DS006836,Fibrosis of retina | PVR - Proliferative vitreoretinopathy | Proliferative vitreoretinopathy | Proliferative vitreoretinopathy (disorder) | Retinitis proliferans | neovascular inflammatory vitreoretinopathy | proliferative vitreoretinopathy
BMGC_DS04458,BMG_DS006837,Congenital atresia of pulmonary valve | Congenital atresia of pulmonary valve (disorder) | Imperforate pulmonary valve
BMGC_DS04459,BMG_DS006841,Systemic Inflammatory Response Syndrome
BMGC_DS04460,BMG_DS006842,Multiple Chemical Sensitivity | multiple chemical sensitivity | obsolete multiple chemical sensitivity
BMGC_DS04461,BMG_DS006848,Abdominal Abscess
BMGC_DS04462,BMG_DS006849,tricuspid atresia
BMGC_DS04463,BMG_DS006850,"Encephalitis, Viral | Viral Encephalitis | viral encephalitis"
BMGC_DS04464,BMG_DS006851,Hantavirus Pulmonary Syndrome | hantavirus pulmonary syndrome
BMGC_DS04465,BMG_DS006852,(Septicaemia NOS) or (sepsis) | (Septicaemia NOS) or (sepsis) (disorder) | (Septicemia NOS) or (sepsis) | Sepsis | Sepsis (disorder) | Septicaemia NOS | Septicemia NOS | Systemic infection
BMGC_DS04466,BMG_DS006855,Autonomic neuropathy | Autonomic neuropathy (disorder) | autonomic neuropathy
BMGC_DS04467,BMG_DS006857,sebocystomatosis
BMGC_DS04468,BMG_DS006860,fibrous dysplasia
BMGC_DS04469,BMG_DS006861,telangiectatic osteogenic sarcoma
BMGC_DS04470,BMG_DS006862,mixed glioma
BMGC_DS04471,BMG_DS006864,rhabdoid meningioma
BMGC_DS04472,BMG_DS006866,(Punctate keratitis [& Thygeson's superficial] ) or (keratitic precipitates) | (Punctate keratitis [& Thygeson's superficial] ) or (keratitic precipitates) (disorder) | Keratitic precipitates | PK - Punctate keratitis | Punctate epithelial keratitis | Punctate keratitis | Punctate keratitis (disorder) | Superficial punctate keratitis | Thygeson's superficial punctate keratitis | punctate epithelial keratoconjunctivitis
BMGC_DS04473,BMG_DS006867,Purulent endophthalmitis | Purulent endophthalmitis (disorder) | purulent endophthalmitis
BMGC_DS04474,BMG_DS006870,hearing disorder
BMGC_DS04475,BMG_DS006874,ampulla of Vater carcinoma | carcinoma of the ampulla of vater
BMGC_DS04476,BMG_DS006879,"Cardiac valvular dysplasia, X-linked | cardiac valvular dysplasia, X-linked"
BMGC_DS04477,BMG_DS006887,Anterior Wall Myocardial Infarction | Anterolateral Myocardial Infarction | anterolateral myocardial infarction
BMGC_DS04478,BMG_DS006888,Anterior Wall Myocardial Infarction | Anteroseptal Myocardial Infarction | anteroseptal myocardial infarction
BMGC_DS04479,BMG_DS006891,lung oat cell carcinoma
BMGC_DS04480,BMG_DS006894,parathyroid adenoma | parathyroid gland adenoma
BMGC_DS04481,BMG_DS006899,"Recurrent UTI - urinary tract infection | Recurrent urinary tract infection | Recurrent urinary tract infection (disorder) | Urinary tract infection, site not specified | Urinary tract infection: [site not specified] or [recurrent] | Urinary tract infection: [site not specified] or [recurrent] (disorder)"
BMGC_DS04482,BMG_DS006903,extragonadal germ cell cancer | extragonadal germ cell tumor
BMGC_DS04483,BMG_DS006915,Spongiotic dermatitis | Spongiotic dermatitis (disorder) | spongiotic dermatitis
BMGC_DS04484,BMG_DS006916,Psoriasiform eczema | Psoriasiform eczema (disorder)
BMGC_DS04485,BMG_DS006919,"Cutaneous Vasculitis | Skin Diseases, Vascular | cutaneous vasculitis"
BMGC_DS04486,BMG_DS007190,Contact dermatitis caused by Toxicodendron diversilobum | Contact dermatitis caused by urushiol from Pacific poison oak | Contact dermatitis caused by urushiol from Rhus diversiloba | Contact dermatitis caused by urushiol from Toxicodendron diversilobum | Contact dermatitis caused by urushiol from Toxicodendron diversilobum (disorder)
BMGC_DS04487,BMG_DS007207,Pemphigus | Pemphigus Foliaceus | pemphigus foliaceus
BMGC_DS04488,BMG_DS007220,"Chronic Inducible Urticaria | Urticaria, Aquagenic | urticaria, aquagenic"
BMGC_DS04489,BMG_DS007224,Chronic Urticaria | chronic urticaria
BMGC_DS04490,BMG_DS007237,Hyde's disease | Nodular prurigo | Picker's nodules | Prurigo nodularis | Prurigo nodularis (disorder) | prurigo nodularis
BMGC_DS04491,BMG_DS007251,Acrodermatitis | Gianotti-Crosti Syndrome
BMGC_DS04492,BMG_DS007255,Distinctive exudative discoid AND lichenoid chronic dermatosis of Sulzberger and Garbe | Distinctive exudative discoid AND lichenoid chronic dermatosis of Sulzberger and Garbe (disorder) | Exudative discoid and lichenoid dermatosis | Sulzberger-Garbe syndrome
BMGC_DS04493,BMG_DS007260,Acquired perforating dermatosis | Kyrle disease
BMGC_DS04494,BMG_DS007261,KP - Keratosis pilaris | Keratosis pilaris | Keratosis pilaris (disorder) | keratosis pilaris
BMGC_DS04495,BMG_DS007262,"papillomatosis, confluent and reticulated"
BMGC_DS04496,BMG_DS007272,EED - Erythema elevatum diutinum | Erythema elevatum diutinum | Erythema elevatum diutinum (disorder) | Other specified localised cutaneous vasculitis | erythema elevatum diutinum
BMGC_DS04497,BMG_DS007275,Cutis marmorata | Cutis marmorata (disorder) | Cutis marmorata (finding)
BMGC_DS04498,BMG_DS007276,Paucicellular mastocytosis | TMEP - telangiectasia macularis eruptiva perstans | Telangiectasia macularis eruptiva perstans | Telangiectasia macularis eruptiva perstans (disorder) | telangiectasia macularis eruptiva perstans
BMGC_DS04499,BMG_DS007279,"Linear Scleroderma | Scleroderma, Localized | linear scleroderma"
BMGC_DS04500,BMG_DS007285,Flegels disease | Hyperkeratosis lenticularis perstans | Hyperkeratosis lenticularis perstans (disorder) | Hyperkeratosis lenticularis perstans of Flegel | hyperkeratosis lenticularis perstans
BMGC_DS04501,BMG_DS007290,Burnett Schwartz Berberian syndrome | keratosis pilaris atrophicans
BMGC_DS04502,BMG_DS007291,Acne vermoulante | Atrophoderma vermiculatum | Atrophoderma vermiculatum (disorder) | Folliculitis ulerythematosa reticulata | Honeycomb atrophy of face | atrophoderma vermiculata
BMGC_DS04503,BMG_DS007311,Chloracne | Chlorine acne | Chlorine acne (disorder)
BMGC_DS04504,BMG_DS007323,Miliaria profunda | Miliaria profunda (disorder) | Other specified forms of miliaria | miliaria profunda
BMGC_DS04505,BMG_DS007325,Granulosis Rubra Nasi | granulosis rubra nasi
BMGC_DS04506,BMG_DS007331,Diffuse alopecia areata | Diffuse alopecia areata (disorder) | diffuse alopecia areata
BMGC_DS04507,BMG_DS007338,Genetic defects of the hair shaft | Pili annulati | Pili annulati (disorder) | Ringed hair | ringed hair disease
BMGC_DS04508,BMG_DS007340,pili torti
BMGC_DS04509,BMG_DS007351,Alopecia universalis | Alopecia universalis (disorder) | Other specified forms of alopecia areata | Universal alopecia areata | alopecia universalis
BMGC_DS04510,BMG_DS007352,Dissecting cellulitis | Perifolliculitis capitis abscedens | Perifolliculitis capitis abscedens (disorder) | dissecting cellulitis of the scalp
BMGC_DS04511,BMG_DS007362,Telogen effluvium | Telogen effluvium (disorder) | Telogen effluvium unspecified | telogen effluvium
BMGC_DS04512,BMG_DS007406,Drug-induced lupus erythematosus | Drug-induced lupus erythematosus (disorder) | Lupus-like syndrome | drug-induced lupus erythematosus
BMGC_DS04513,BMG_DS007437,angioma serpiginosum
BMGC_DS04514,BMG_DS007438,Angiokeratoma circumscriptum | Angiokeratoma circumscriptum (disorder) | angiokeratoma circumscriptum
BMGC_DS04515,BMG_DS007439,angiokeratoma of Fordyce
BMGC_DS04516,BMG_DS007440,angiokeratoma of mibelli
BMGC_DS04517,BMG_DS007458,DECD | Disseminated eosinophilic collagen disease | Disseminated eosinophilic collagen disease (disorder) | Hypereosinophilic syndrome | disseminated eosinophilic collagen disease
BMGC_DS04518,BMG_DS007462,"Dermatomyositis | Dermatomyositis, Childhood Type | childhood type dermatomyositis | juvenile dermatomyositis"
BMGC_DS04519,BMG_DS007583,SAPHO syndrome
BMGC_DS04520,BMG_DS007611,(Peripheral enthesopathies) or (capsulitis) | (Peripheral enthesopathies) or (capsulitis) (disorder) | Bursitis | Capsulitis | Capsulitis (disorder) | Enthesopathies - peripheral | Peripheral enthesopathies
BMGC_DS04521,BMG_DS007635,(Tendinitis: [ankle/tarsus] or [achilles] or [ankle]) or (calcaneal spur) or (metatarsalgia) | (Tendinitis: [ankle/tarsus] or [achilles] or [ankle]) or (calcaneal spur) or (metatarsalgia) (disorder) | Achilles tendiditis | Achilles tendinitis | Achilles tendinitis (disorder) | Achilles tendonitis | Ankle tendonitis | Calcaneal spur | Metatarsalgia | Other specified tenosynovitis | Spur - calcaneal | Tendinitis of ankle/tarsus
BMGC_DS04522,BMG_DS007658,"Bursitis - elbow | Bursitis of elbow | Bursitis of elbow region | Bursitis, unspecified | Capped elbow | Elbow bursitis (& olecranon) | Elbow bursitis (& olecranon) (disorder) | Elbow hygroma | Elbow hygroma (disorder) | Inflammation of bursa of olecranon | Inflammation of bursa of olecranon (disorder) | Miner's elbow | Miners' elbow | Olecranon bursitis | Olecranon bursitis (disorder) | Shoe boil | Student's elbow | olecranon bursitis"
BMGC_DS04523,BMG_DS007668,Polymyositis | Polymyositis Ossificans | polymyositis
BMGC_DS04524,BMG_DS007680,Garrod's pads | Knuckle pads | Knuckle pads (disorder) | knuckle pads
BMGC_DS04525,BMG_DS007684,Eosinophilic Fasciitis | eosinophilic fasciitis
BMGC_DS04526,BMG_DS007687,Hepatic osteodystrophy | Hepatic osteodystrophy (disorder)
BMGC_DS04527,BMG_DS007748,"Osteoarthropathy of fingers familial | Thiemann disease, familial form"
BMGC_DS04528,BMG_DS007771,drug-induced osteoporosis
BMGC_DS04529,BMG_DS007775,"Atrophy, Disuse | Muscular Disorders, Atrophic"
BMGC_DS04530,BMG_DS007782,idiopathic camptocormia
BMGC_DS04531,BMG_DS007815,Chronic disease of respiratory system | Chronic disease of respiratory system (disorder) | Chronic respiratory disease | Chronic respiratory system disease
BMGC_DS04532,BMG_DS007878,congenital laryngomalacia
BMGC_DS04533,BMG_DS007892,Calcification of trachea | Calcification of trachea (disorder) | Tracheal calcification | tracheal calcification
BMGC_DS04534,BMG_DS007909,Bronchomalacia | Bronchomalacia (disorder)
BMGC_DS04535,BMG_DS007912,Bronchiectasis | Cylindrical Bronchiectasis
BMGC_DS04536,BMG_DS007914,Bronchiectasis | Saccular Bronchiectasis
BMGC_DS04537,BMG_DS007944,Panacinar Emphysema | Pulmonary Emphysema
BMGC_DS04538,BMG_DS007964,"Asthma, Occupational | occupational asthma"
BMGC_DS04539,BMG_DS007973,Kaolin pneumoconiosis | Kaolin workers pneumoconiosis | Kaolinosis | Kaolinosis (disorder) | kaolin pneumoconiosis
BMGC_DS04540,BMG_DS008010,"ARF - Acute respiratory failure | Acute respiratory failure | Acute respiratory failure (disorder) | Acute respiratory failure, unspecified | acute respiratory failure | respiratory failure"
BMGC_DS04541,BMG_DS008019,Compression Pulmonary Atelectasis | Pulmonary Atelectasis
BMGC_DS04542,BMG_DS008027,"Endogenous Lipid Pneumonia | Pneumonia, Lipid"
BMGC_DS04543,BMG_DS008028,Idiopathic lymphocytic interstitial pneumonia | Lymphocytic interstitial pneumonia | Lymphoid interstitial pneumonia | Lymphoid interstitial pneumonitis | Lymphoid interstitial pneumonitis (disorder) | lymphoid interstitial pneumonia
BMGC_DS04544,BMG_DS008031,"Pneumonia, Necrotizing"
BMGC_DS04545,BMG_DS008069,Pneumothorax | Tension Pneumothorax
BMGC_DS04546,BMG_DS008089,Dysphonia | Spastic Dysphonia
BMGC_DS04547,BMG_DS008099,"Voice Disorder, Neurologic | Voice Disorders"
BMGC_DS04548,BMG_DS008106,Apraxia of Phonation | Apraxias
BMGC_DS04549,BMG_DS008167,Chronic coronary insufficiency | Chronic ischaemic heart disease | Chronic ischemic heart disease | Chronic ischemic heart disease (disorder) | Chronic myocardial ischaemia | Chronic myocardial ischaemia (disorder) | Chronic myocardial ischemia | Chronic myocardial ischemia (disorder) | coronary artery disease
BMGC_DS04550,BMG_DS008181,Acute heart failure | Acute heart failure (disorder)
BMGC_DS04551,BMG_DS008183,Chronic heart failure | Chronic heart failure (disorder)
BMGC_DS04552,BMG_DS008207,Rheumatic fever without heart involvement | Rheumatic fever without heart involvement (disorder) | rheumatic fever
BMGC_DS04553,BMG_DS008209,Chorea Gravidarum | chorea gravidarum
BMGC_DS04554,BMG_DS008226,Rheumatic disease of mitral valve | Rheumatic disease of mitral valve (disorder) | Rheumatic mitral valve changes | Rheumatic mitral valve disease | mitral valve disease | rheumatic disease of mitral valve
BMGC_DS04555,BMG_DS008234,Mitral and aortic incompetence | Mitral and aortic incompetence (disorder) | Mitral and aortic insufficiency | Mitral and aortic regurgitation | aortic valve insufficiency | mitral valve insufficiency
BMGC_DS04556,BMG_DS008236,Rheumatic disease of tricuspid valve | Rheumatic disease of tricuspid valve (disorder) | Rheumatic tricuspid valve disease | tricuspid valve disease
BMGC_DS04557,BMG_DS008247,Familial cardiomyopathy | Familial cardiomyopathy (disorder) | Primary familial cardiomyopathy | familial cardiomyopathy
BMGC_DS04558,BMG_DS008285,Constrictive endocarditis | Eosinophilic endomyocardial disease | Loeffler endocarditis | Löffler's endocarditis | Löffler's parietal fibroplastic endocarditis | Primary eosinophilic endomyocardial restrictive cardiomyopathy | Primary eosinophilic endomyocardial restrictive cardiomyopathy (disorder)
BMGC_DS04559,BMG_DS008330,Myxoid transformation of mitral valve | Myxoid transformation of mitral valve (disorder) | Myxomatous degeneration of mitral valve
BMGC_DS04560,BMG_DS008331,Conduction disorder of the heart | Conduction disorder of the heart (disorder) | Disorder of heart conduction | cardiac conduction defect
BMGC_DS04561,BMG_DS008336,Brugada syndrome 1 | Brugada syndrome 9 | Nodal arrhythmia | Nodal rhythm disorder | Nodal rhythm disorder (disorder) | Other specified diseases of the circulatory system | Sinus arrhythmia
BMGC_DS04562,BMG_DS008342,"Incomplete atrioventricular block, second degree | Second degree atrioventricular block | Second degree atrioventricular block (disorder) | Second degree heart block | second-degree atrioventricular block"
BMGC_DS04563,BMG_DS008370,Systemic Vasculitis
BMGC_DS04564,BMG_DS008409,Ruptured thoracic aortic aneurysm | Ruptured thoracic aortic aneurysm (disorder) | Thoracic aortic aneurysm which has ruptured | Thoracic aortic aneurysm which has ruptured (disorder) | aortic aneurysm
BMGC_DS04565,BMG_DS008410,Abdominal aortic aneurysm which has ruptured | Ruptured abdominal aortic aneurysm | Ruptured abdominal aortic aneurysm (disorder) | Ruptured aneurysm of abdominal aorta | aortic aneurysm
BMGC_DS04566,BMG_DS008419,Hepatic portal vein obstruction | Portal vein obstruction | Portal vein obstruction (disorder)
BMGC_DS04567,BMG_DS008437,Thrombophlebitis of superficial veins of lower extremity | Thrombophlebitis of superficial veins of lower extremity (disorder) | thrombophlebitis
BMGC_DS04568,BMG_DS008445,Thrombophlebitis of the femoral vein | Thrombophlebitis of the femoral vein (disorder) | femoral vein thrombophlebitis
BMGC_DS04569,BMG_DS008462,Basilar Artery Stenosis | Vertebrobasilar Insufficiency
BMGC_DS04570,BMG_DS008463,basilar artery occlusion
BMGC_DS04571,BMG_DS008465,"Carotid artery obstruction | Carotid artery obstruction (disorder) | Carotid artery occlusion | Carotid artery occlusion (& [stenosis] or [thrombosis]) | Carotid artery occlusion (& [stenosis] or [thrombosis]) (disorder) | Carotid artery occlusion (disorder) | Carotid artery thrombosis | Occlusion of carotid artery | Occlusion of carotid artery (disorder) | Stenosis, carotid artery | Thrombosis, carotid artery | carotid artery occlusion"
BMGC_DS04572,BMG_DS008466,Vertebral Artery Stenosis | Vertebrobasilar Insufficiency
BMGC_DS04573,BMG_DS008470,"Cerebral Vasospasm | Vasospasm, Intracranial"
BMGC_DS04574,BMG_DS008475,Acute cerebrovascular insufficiency | Acute cerebrovascular insufficiency (disorder)
BMGC_DS04575,BMG_DS008543,"De Sanctis-Cacchione syndrome | De Sanctis-Cacchione syndrome (disorder) | Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa | Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | Xerodermic idiocy | de Sanctis-Cacchione syndrome"
BMGC_DS04576,BMG_DS008544,Bird-headed dwarf | Bird-headed dwarf of Seckel | Nanocephalic dwarf | Seckel syndrome | Seckel syndrome (disorder)
BMGC_DS04577,BMG_DS008546,Robinow Syndrome | Robinow syndrome
BMGC_DS04578,BMG_DS008551,CLOVES syndrome | Overgrowth syndromes | Weaver syndrome | Weaver syndrome (disorder)
BMGC_DS04579,BMG_DS008552,"Accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome | Marshall-Smith syndrome | Marshall-Smith syndrome (disorder)"
BMGC_DS04580,BMG_DS008554,Distal arthrogryposis | Distal arthrogryposis syndrome | Distal arthrogryposis syndrome (disorder) | distal arthrogryposis
BMGC_DS04581,BMG_DS008556,"Cystic or dysplastic kidney disease, unspecified | Dysencephalia splanchnocystica | Meckel syndrome | Meckel syndrome 1 | Meckel syndrome 2 | Meckel syndrome 3 | Meckel syndrome 4 | Meckel syndrome 5 | Meckel syndrome 6 | Meckel syndrome 8 | Meckel-Gruber syndrome | Meckel-Gruber syndrome (disorder)"
BMGC_DS04582,BMG_DS008557,Bickers-Adams syndrome | X-linked hydrocephalus | X-linked hydrocephalus syndrome | X-linked hydrocephalus syndrome (disorder) | X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
BMGC_DS04583,BMG_DS008559,Miller Dieker syndrome | Miller Dieker syndrome (disorder) | Miller-Dieker lissencephaly syndrome | Miller-Dieker syndrome
BMGC_DS04584,BMG_DS008560,Pallister-Hall syndrome | Pallister-Hall syndrome (disorder)
BMGC_DS04585,BMG_DS008561,"HARD (hydrocephalus, agyria, retinal dysplasia) syndrome | Hydrocephalus, agyria and retinal dysplasia | Walker Warburg syndrome | Walker-Warburg congenital muscular dystrophy | Walker-Warburg congenital muscular dystrophy (disorder) | muscular dystrophy-dystroglycanopathy, type A"
BMGC_DS04586,BMG_DS008562,Prader-Willi Syndrome | Royer Syndrome
BMGC_DS04587,BMG_DS008563,Cohen syndrome
BMGC_DS04588,BMG_DS008564,Distal arthrogryposis type 2A | Freeman-Sheldon syndrome | Freeman-Sheldon syndrome (disorder) | Whistling face syndrome | Whistling face syndrome (disorder)
BMGC_DS04589,BMG_DS008565,Distal arthrogryposis type 7 | Dutch Kentucky syndrome | Hecht Beals syndrome | Hecht syndrome | Hecht syndrome (disorder) | Trismus pseudocamptodactyly syndrome | trismus-pseudocamptodactyly syndrome
BMGC_DS04590,BMG_DS008566,Schinzel Giedion syndrome | Schinzel-Giedion syndrome | Schinzel-Giedion syndrome (disorder)
BMGC_DS04591,BMG_DS008570,"Cryptophthalmos syndrome | Cryptophthalmos syndrome (disorder) | Cryptophthalmos, defect of auricle AND genital anomaly | Fraser syndrome | Fraser syndrome (disorder) | Multiple developmental anomalies or syndromes, unspecified | Warburg micro syndrome 1 | Warburg micro syndrome 2 | Warburg micro syndrome 3 | Warburg micro syndrome 4"
BMGC_DS04592,BMG_DS008571,Branchio-Oto-Renal Syndrome | branchio-oto-renal syndrome | branchiootorenal syndrome
BMGC_DS04593,BMG_DS008572,Marshall syndrome | Marshall syndrome (disorder) | Marshall's syndrome
BMGC_DS04594,BMG_DS008574,Cervico-oculofacial syndrome | Cervicooculoacoustic syndrome | Wildervanck syndrome | Wildervanck syndrome (disorder) | Wildervanck's syndrome
BMGC_DS04595,BMG_DS008575,Goldenhar Syndrome | Goldenhar syndrome | craniofacial microsomia
BMGC_DS04596,BMG_DS008577,agnathia-otocephaly complex
BMGC_DS04597,BMG_DS008579,Nager acrofacial dysostosis | Nager acrofacial dysostosis syndrome | Nager syndrome | Nager syndrome (disorder) | Preaxial acrofacial dysostosis
BMGC_DS04598,BMG_DS008580,Townes Brocks syndrome | Townes syndrome | Townes syndrome (disorder) | Townes-Brocks syndrome
BMGC_DS04599,BMG_DS008581,Ruvalcaba Syndrome | Ruvalcaba syndrome
BMGC_DS04600,BMG_DS008582,Mental retardation Mietens Weber type | Mietens syndrome
BMGC_DS04601,BMG_DS008583,Oto-Palato-digital syndrome type 1 | otopalatodigital syndrome type 1
BMGC_DS04602,BMG_DS008584,CLS - Coffin-Lowry syndrome | Coffin-Lowry syndrome | Coffin-Lowry syndrome (disorder)
BMGC_DS04603,BMG_DS008585,Hereditary arthro-ophthalmopathy | Hereditary progressive arthro-ophthalmopathy | Stickler dysplasia | Stickler syndrome | Stickler syndrome (disorder) | Wagner-Stickler syndrome
BMGC_DS04604,BMG_DS008586,Trichorhinophalangeal syndrome | Trichorhinophalangeal syndrome (disorder) | trichorhinophalangeal syndrome
BMGC_DS04605,BMG_DS008587,Genee-Wiedemann syndrome | postaxial acrofacial dysostosis
BMGC_DS04606,BMG_DS008589,PPS - Popliteal pterygium syndrome | Popliteal pterygium syndrome | Popliteal pterygium syndrome (disorder) | popliteal pterygium syndrome
BMGC_DS04607,BMG_DS008590,"Chondrodysplasia, Grebe type | acromesomelic dysplasia 2A"
BMGC_DS04608,BMG_DS008591,autosomal recessive multiple pterygium syndrome
BMGC_DS04609,BMG_DS008593,Femoral facial syndrome | Femoral hypoplasia - unusual facies syndrome | Femoral hypoplasia - unusual facies syndrome (disorder) | femoral-facial syndrome
BMGC_DS04610,BMG_DS008594,"Atriodigital dysplasia type 1 | Heart-hand syndrome type 1 | Holt Oram syndrome | Holt-Oram syndrome | Holt-Oram syndrome (disorder) | Multiple developmental anomalies or syndromes, unspecified | microphthalmia with limb anomalies | split hand-foot malformation 1 with sensorineural hearing loss"
BMGC_DS04611,BMG_DS008595,Aase Smith II syndrome | Aase syndrome | Aase syndrome (disorder) | Blackfan-Diamond anaemia | Blackfan-Diamond anemia | Congenital hypoplastic anaemia Blackfan-Diamond type | Congenital hypoplastic anemia Blackfan-Diamond type | Congenital pure red cell aplasia | Diamond-Blackfan anemia 6
BMGC_DS04612,BMG_DS008596,CHILD syndrome | Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
BMGC_DS04613,BMG_DS008597,Adams-Oliver syndrome
BMGC_DS04614,BMG_DS008598,LADD syndrome | Lacrimoauriculodentodigital syndrome
BMGC_DS04615,BMG_DS008599,achondrogenesis type IA
BMGC_DS04616,BMG_DS008600,achondrogenesis type IB
BMGC_DS04617,BMG_DS008601,Asphyxiating thoracic dystrophy | Jeune syndrome | Jeune thoracic dysplasia | Jeune thoracic dystrophy | Jeune thoracic dystrophy (disorder)
BMGC_DS04618,BMG_DS008602,Kniest chondrodystrophy | Kniest dysplasia | Kniest dysplasia (disorder) | Kniest syndrome | Swiss cheese cartilage dysplasia
BMGC_DS04619,BMG_DS008603,"Spondylometaphyseal dysplasia, Kozlowski type | spondylometaphyseal dysplasia Kozlowski type | spondylometaphyseal dysplasia, Kozlowski type"
BMGC_DS04620,BMG_DS008604,metatropic dysplasia
BMGC_DS04621,BMG_DS008605,fibrochondrogenesis
BMGC_DS04622,BMG_DS008606,atelosteogenesis type I
BMGC_DS04623,BMG_DS008607,Dyggve-Melchior-Clausen disease | Dyggve-Melchior-Clausen dysplasia | Dyggve-Melchior-Clausen syndrome | Dyggve-Melchior-Clausen syndrome (disorder)
BMGC_DS04624,BMG_DS008608,Acromicric dysplasia | acromicric dysplasia
BMGC_DS04625,BMG_DS008609,Metaphyseal chondrodysplasia Schmid type | Schmid metaphyseal chondrodysplasia
BMGC_DS04626,BMG_DS008610,metaphyseal chondrodysplasia
BMGC_DS04627,BMG_DS008612,craniometaphyseal dysplasia
BMGC_DS04628,BMG_DS008613,frontometaphyseal dysplasia
BMGC_DS04629,BMG_DS008614,Pyle disease | Pyle metaphyseal dysplasia | Pyle metaphyseal dysplasia (disorder) | Pyle's disease
BMGC_DS04630,BMG_DS008615,"Jansen type metaphyseal chondrodysplasia | metaphyseal chondrodysplasia, Jansen type"
BMGC_DS04631,BMG_DS008619,Sclerosteosis | Sclerosteosis (disorder) | sclerosteosis
BMGC_DS04632,BMG_DS008621,Greig cephalopolysyndactyly syndrome
BMGC_DS04633,BMG_DS008622,Baller-Gerold syndrome | Baller-Gerold syndrome (disorder) | Craniosynostosis-radial aplasia syndrome
BMGC_DS04634,BMG_DS008623,Leri-Weill dyschondrosteosis | Leri-Weill dyschondrosteosis (disorder) | Leri-Weill syndrome
BMGC_DS04635,BMG_DS008626,Brachydactyly-spherophakia syndrome | Brachymorphy with spherophakia syndrome | Marchesani syndrome | Marchesani syndrome (disorder) | Marchesani's syndrome | Spherophakia-brachymorphia syndrome | WMS - Weill-Marchesani syndrome | Weill-Marchesani syndrome | Weill-Marchesani syndrome (disorder)
BMGC_DS04636,BMG_DS008628,Neurocutaneous Syndromes | neurocutaneous syndrome
BMGC_DS04637,BMG_DS008631,Peutz-Jeghers syndrome
BMGC_DS04638,BMG_DS008633,"Bannayan-Riley-Ruvalcaba Syndrome | Bannayan-Riley-Ruvalcaba syndrome | Hamartoma Syndrome, Multiple"
BMGC_DS04639,BMG_DS008635,"Nevus, Sebaceous of Jadassohn | Organoid Nevus Phakomatosis"
BMGC_DS04640,BMG_DS008636,Anhidrotic ectodermal dysplasia | Anhidrotic ectodermal dysplasia syndrome | Autosomal dominant hypohidrotic ectodermal dysplasia syndrome | Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) | Hypohidrotic ectodermal dysplasia syndrome | Rapp-Hodgkin ectodermal dysplasia syndrome | Rapp-Hodgkin type of ectodermal dysplasia | autosomal dominant hypohidrotic ectodermal dysplasia
BMGC_DS04641,BMG_DS008637,Amelogenesis imperfecta - osteosclerosis syndrome | TDO - Trichodento-osseous syndrome | TDO syndrome | Taurodontism - curly hair - osteosclerosis syndrome | Tricho-dento-osseous syndrome | Tricho-dento-osseous syndrome (disorder) | Trichodento-osseous syndrome | tricho-dento-osseous syndrome | trichodontoosseous syndrome
BMGC_DS04642,BMG_DS008638,Pachyonychia Congenita | pachyonychia congenita
BMGC_DS04643,BMG_DS008640,"Autosomal dominant KID (keratitis, ichthyosis, deafness) syndrome | Autosomal dominant keratitis, ichthyosis, deafness syndrome | Senter syndrome | Senter syndrome (disorder) | autosomal dominant keratitis-ichthyosis-hearing loss syndrome"
BMGC_DS04644,BMG_DS008641,Coffin-Siris syndrome | Coffin-Siris syndrome (disorder)
BMGC_DS04645,BMG_DS008642,Borjeson syndrome | Borjeson-Forssman-Lehmann syndrome | Borjeson-Forssman-Lehmann syndrome (disorder)
BMGC_DS04646,BMG_DS008643,Axenfeld-Rieger syndrome | Rieger anomaly | Rieger syndrome | Rieger syndrome (disorder) | Rieger's syndrome
BMGC_DS04647,BMG_DS008644,Cerebrocostomandibular Syndrome | cerebrocostomandibular syndrome
BMGC_DS04648,BMG_DS008645,Autosomal recessive spondylocostal dysostosis | Jarcho-Levin syndrome | Jarcho-Levin syndrome (disorder) | Spondylothoracic dysplasia | spondylocostal dysostosis
BMGC_DS04649,BMG_DS008646,Donohue Syndrome | Donohue syndrome
BMGC_DS04650,BMG_DS008647,Lymphedema distichiasis syndrome | lymphedema-distichiasis syndrome
BMGC_DS04651,BMG_DS008653,CHARGE Syndrome | CHARGE syndrome
BMGC_DS04652,BMG_DS008663,Warfarin syndrome | vitamin K-antagonist embryofetopathy
BMGC_DS04653,BMG_DS008724,Isochromosome 12p syndrome | Killian-Teschler-Nicola syndrome | Pallister mosaic syndrome | Pallister-Killian syndrome | Pallister-Killian syndrome (disorder) | Tetrasomy 12p | Tetrasomy 12p syndrome | Tetrasomy 12p syndrome (disorder) | tetrasomy 12p
BMGC_DS04654,BMG_DS008757,ring chromosome 20 | ring chromosome 20 syndrome
BMGC_DS04655,BMG_DS008768,CES - Cat eye syndrome | Cat eye syndrome | Cat eye syndrome (disorder) | Schachenmann's syndrome | cat-eye syndrome
BMGC_DS04656,BMG_DS008774,"49,XXXXY Syndrome | 49,XXXXY syndrome | Klinefelter Syndrome"
BMGC_DS04657,BMG_DS008778,Buschke-Ollendorf syndrome | Buschke-Ollendorff syndrome | Dermato-osteopoikilosis | Dermatofibrosis lenticularis disseminata | Dermatofibrosis lenticularis disseminata (disorder) | Disseminated dermatofibrosis
BMGC_DS04658,BMG_DS008779,trigonocephaly
BMGC_DS04659,BMG_DS008780,megalodactyly
BMGC_DS04660,BMG_DS008781,split hand-foot malformation | split hand-foot malformation 2 | split hand-foot malformation 3 | split hand-foot malformation 4 | split hand-foot malformation 5 | split hand-foot malformation 6
BMGC_DS04661,BMG_DS008782,acheiropody
BMGC_DS04662,BMG_DS008783,congenital elbow dislocation
BMGC_DS04663,BMG_DS008784,congenital shoulder dislocation
BMGC_DS04664,BMG_DS008790,radial hemimelia
BMGC_DS04665,BMG_DS008798,familial isolated clinodactyly of fingers
BMGC_DS04666,BMG_DS008803,tibial hemimelia
BMGC_DS04667,BMG_DS008812,Gastroschisis | Gastroschisis (disorder) | gastroschisis
BMGC_DS04668,BMG_DS008816,larynx atresia
BMGC_DS04669,BMG_DS008819,pulmonary agenesis
BMGC_DS04670,BMG_DS008820,pulmonary hypoplasia
BMGC_DS04671,BMG_DS008822,congenital lobar emphysema
BMGC_DS04672,BMG_DS008829,aortic valve atresia
BMGC_DS04673,BMG_DS008836,Uhl anomaly
BMGC_DS04674,BMG_DS008853,Congenital poikiloderma | Erythrokeratodermia variabilis | Erythrokeratodermia variabilis (disorder) | Mendes da Costa syndrome | erythrokeratodermia variabilis
BMGC_DS04675,BMG_DS008854,Axial osteosclerosis with bamboo hair | Comel-Netherton syndrome | Ichthyosis linearis circumflexa | Ichthyosis linearis circumflexa (disorder) | Netherton syndrome | Netherton syndrome (disorder) | Netherton's syndrome | ichthyosis linearis circumflexa
BMGC_DS04676,BMG_DS008855,Vohwinkel syndrome | keratoderma hereditarium mutilans
BMGC_DS04677,BMG_DS008856,Dyskeratosis Congenita | dyskeratosis congenita
BMGC_DS04678,BMG_DS008857,Hereditary benign intraepithelial dyskeratosis | Hereditary benign intraepithelial dyskeratosis (disorder) | Witkop's disease | Witkop's syndrome | Witkop-Brearley-Gentry syndrome | Witkop-Von Sallmann disease | Witkop-von Sallman syndrome | hereditary benign intraepithelial dyskeratosis
BMGC_DS04679,BMG_DS008858,"Porokeratosis | Porokeratosis, Disseminated Superficial Actinic | disseminated superficial actinic porokeratosis | porokeratosis"
BMGC_DS04680,BMG_DS008859,Acrokeratosis Verruciformis of Hopf | Darier Disease | acrokeratosis verruciformis
BMGC_DS04681,BMG_DS008862,mongolian spot
BMGC_DS04682,BMG_DS008863,nevus comedonicus syndrome
BMGC_DS04683,BMG_DS008867,nonsyndromic congenital nail disorder 4
BMGC_DS04684,BMG_DS008868,nonsyndromic congenital nail disorder 2
BMGC_DS04685,BMG_DS008869,"Bart-Pumphrey syndrome | Knuckle pads, leuconychia and sensorineural deafness"
BMGC_DS04686,BMG_DS008870,Bjornstad syndrome | Bjornstad's syndrome | Pili torti-deafness syndrome | Pili torti-deafness syndrome (disorder)
BMGC_DS04687,BMG_DS008872,familial supernumerary nipples
BMGC_DS04688,BMG_DS008875,Paramolar tubercle of bolk
BMGC_DS04689,BMG_DS008877,Abnormalities of size or form of teeth | Taurodontism | Taurodontism (disorder) | taurodontism
BMGC_DS04690,BMG_DS008889,pyloric atresia
BMGC_DS04691,BMG_DS008890,atresia of small intestine
BMGC_DS04692,BMG_DS008891,duodenal atresia
BMGC_DS04693,BMG_DS008897,isolated agenesis of gallbladder
BMGC_DS04694,BMG_DS008900,thyroid ectopia
BMGC_DS04695,BMG_DS008901,"renal agenesis, unilateral"
BMGC_DS04696,BMG_DS008902,renal hypoplasia
BMGC_DS04697,BMG_DS008903,Allanson Pantzar McLeod syndrome | Primitive renal tubule syndrome | Renal tubular dysgenesis | Renal tubular dysgenesis (disorder) | renal tubular dysgenesis
BMGC_DS04698,BMG_DS008909,"Hermaphroditism, True | Ovotesticular Disorders of Sex Development | true hermaphroditism"
BMGC_DS04699,BMG_DS008910,uterine anomalies
BMGC_DS04700,BMG_DS008917,"46,XY sex reversal 11 | Testicular regression - embryonic | Testicular regression syndrome | Testicular regression syndrome (disorder) | Vanishing testes syndrome | XY Gonadal agenesis syndrome"
BMGC_DS04701,BMG_DS008918,"Leydig cell hypoplasia, type 1"
BMGC_DS04702,BMG_DS008920,lissencephaly | lissencephaly spectrum disorders
BMGC_DS04703,BMG_DS008921,polymicrogyria
BMGC_DS04704,BMG_DS008922,pontocerebellar hypoplasia
BMGC_DS04705,BMG_DS008924,lissencephaly
BMGC_DS04706,BMG_DS008925,schizencephaly
BMGC_DS04707,BMG_DS008926,Etat Marbre | Movement Disorders
BMGC_DS04708,BMG_DS008928,Cortical heterotopia | Gray matter heterotopia | Grey matter heterotopia | Neuronal heterotopia | Neuronal heterotopia (disorder) | Neuronal heterotopia (morphologic abnormality)
BMGC_DS04709,BMG_DS008932,Marcus Gunn phenomenon | jaw-winking syndrome
BMGC_DS04710,BMG_DS008933,Norrie disease
BMGC_DS04711,BMG_DS008936,cataract 5 multiple types
BMGC_DS04712,BMG_DS008937,total early-onset cataract
BMGC_DS04713,BMG_DS008938,Axenfeld anomaly
BMGC_DS04714,BMG_DS008939,persistent hyperplastic primary vitreous
BMGC_DS04715,BMG_DS008940,congenital ptosis
BMGC_DS04716,BMG_DS008944,ear malformation
BMGC_DS04717,BMG_DS008947,holoprosencephaly 1
BMGC_DS04718,BMG_DS008957,Compression of umbilical cord | Compression of umbilical cord (disorder)
BMGC_DS04719,BMG_DS008976,"Visceral Myopathy, Familial | familial visceral myopathy"
BMGC_DS04720,BMG_DS008981,Dental caries extending into dentin | Dental caries extending into dentin (disorder) | Dental caries extending into dentine | Dentin caries | Dentine caries | dentin caries
BMGC_DS04721,BMG_DS008985,Cavitated lesion limited to enamel | Dental caries confined to enamel | Enamel caries | Enamel caries (disorder) | Simple dental caries | Simple dental cavity | enamel caries
BMGC_DS04722,BMG_DS009004,External resorption of root of tooth | External resorption of tooth | External resorption of tooth (disorder) | Pathological tooth resorption - external | external pathological resorption
BMGC_DS04723,BMG_DS009018,Periapical abscess with sinus | dental abscess
BMGC_DS04724,BMG_DS009022,Localised gingival recession | Localized gingival recession | Localized gingival recession (disorder) | gingival recession
BMGC_DS04725,BMG_DS009025,Epulides | Gingival Diseases | epulis
BMGC_DS04726,BMG_DS009033,"Chronic Periodontitis | chronic periodontitis | periodontitis, chronic, adult"
BMGC_DS04727,BMG_DS009077,"Benign lymphoepithelial lesion of salivary gland | Benign lymphoepithelial lesion of salivary gland (disorder) | Benign lymphoepithelial salivary gland lesion | Diseases of salivary glands, unspecified | benign lymphoepithelial lesion of salivary gland"
BMGC_DS04728,BMG_DS009080,Vesicular Stomatitis | vesicular stomatitis
BMGC_DS04729,BMG_DS009095,Actinic cheilitis | Actinic cheilitis (disorder) | Solar keratosis of lip | actinic cheilitis
BMGC_DS04730,BMG_DS009114,Erosive esophagitis | Erosive esophagitis (disorder) | Erosive oesophagitis
BMGC_DS04731,BMG_DS009126,Deglutition Disorders | Oropharyngeal Dysphagia
BMGC_DS04732,BMG_DS009127,Deglutition Disorders | Esophageal Dysphagia
BMGC_DS04733,BMG_DS009136,esophageal leukoplakia
BMGC_DS04734,BMG_DS009146,Acute erosion of stomach | Acute gastric mucosal erosion | Acute gastric mucosal erosion (disorder)
BMGC_DS04735,BMG_DS009184,Eosinophilic gastritis | Eosinophilic gastritis (disorder) | eosinophilic gastritis
BMGC_DS04736,BMG_DS009203,Gastroparesis due to diabetes mellitus | Gastroparesis due to diabetes mellitus (disorder) | Gastroparesis with diabetes mellitus
BMGC_DS04737,BMG_DS009207,Cascade stomach | Cascade stomach (disorder) | cascade stomach
BMGC_DS04738,BMG_DS009227,Gastric Antral Vascular Ectasia | gastric antral vascular ectasia
BMGC_DS04739,BMG_DS009295,Acute peptic ulcer with haemorrhage | Acute peptic ulcer with haemorrhage (disorder) | Acute peptic ulcer with hemorrhage | Acute peptic ulcer with hemorrhage (disorder)
BMGC_DS04740,BMG_DS009344,Angiectasia of intestine | Angiodysplasia of intestine | Angiodysplasia of intestine (disorder) | Intestinal vascular dysplasia | Vascular ectasia of intestine | angiodysplasia of intestine
BMGC_DS04741,BMG_DS009350,Chronic colitis | Chronic colitis (disorder)
BMGC_DS04742,BMG_DS009360,Fulminant ulcerative colitis | Severe chronic ulcerative colitis | Severe chronic ulcerative colitis (disorder)
BMGC_DS04743,BMG_DS009363,Chronic ulcerative proctosigmoiditis | Chronic ulcerative rectosigmoiditis | Chronic ulcerative rectosigmoiditis (disorder) | Ulcerative colitis confined to rectum and sigmoid colon | Ulcerative proctosigmoiditis | Ulcerative rectosigmoiditis | ulcerative proctosigmoiditis
BMGC_DS04744,BMG_DS009405,Non-infective diarrhea | Non-infective diarrhea (disorder) | Non-infective diarrhoea | Presumed non-infectious diarrhea | Presumed non-infectious diarrhoea | non-infectious diarrheal disease
BMGC_DS04745,BMG_DS009427,Enterostenosis | Stenosis of intestine | Stenosis of intestine (disorder)
BMGC_DS04746,BMG_DS009444,Colonic ulcer | Ulceration of colon | Ulceration of colon (disorder)
BMGC_DS04747,BMG_DS009450,Meckel diverticulitis | Meckel's diverticulitis | Meckel's diverticulitis (disorder)
BMGC_DS04748,BMG_DS009455,Diverticulitis of small intestine | Diverticulitis of small intestine (disorder) | small intestine diverticulitis
BMGC_DS04749,BMG_DS009461,Chronic idiopathic constipation | Chronic idiopathic constipation (disorder)
BMGC_DS04750,BMG_DS009504,Drug AND/OR toxin-induced diarrhea | Drug AND/OR toxin-induced diarrhea (disorder) | Drug AND/OR toxin-induced diarrhoea | Drug and toxin-induced diarrhea
BMGC_DS04751,BMG_DS009580,"Congenital chloride diarrhea | Congenital chloride diarrhoea | Congenital chloridorrhea | Congenital chloridorrhoea | Congenital secretory diarrhea, chloride type | Congenital secretory diarrhea, chloride type (disorder) | Congenital secretory diarrhoea, chloride type | Defective Cl^-^/HCO^-^>3< exchange in ileum AND/OR colon | congenital secretory chloride diarrhea 1"
BMGC_DS04752,BMG_DS009581,"Congenital secretory diarrhea, sodium type | Congenital secretory diarrhea, sodium type (disorder) | Congenital secretory diarrhoea, sodium type | Congenital sodium diarrhea | Congenital sodium diarrhoea | Defective Na^+^/H^+^ exchange in jejunum AND/OR ileum | Non-syndromic congenital sodium diarrhea | Non-syndromic congenital sodium diarrhoea | congenital sodium diarrhea"
BMGC_DS04753,BMG_DS009603,Gastroesophageal hernia | Gastrooesophageal hernia | Paraesophageal hernia | Paraesophageal hernia (disorder) | Paraesophageal hiatus hernia | Paraoesophageal hernia | Paraoesophageal hiatus hernia | Rolling hiatus hernia | Thoracic stomach | hiatus hernia
BMGC_DS04754,BMG_DS009647,Digestive System Diseases | Hepatobiliary Disorder | hepatobiliary disease | hepatobiliary disorder
BMGC_DS04755,BMG_DS009652,Acute hepatitis | Acute hepatitis (disorder)
BMGC_DS04756,BMG_DS009664,"Cirrhosis, Cryptogenic"
BMGC_DS04757,BMG_DS009682,Cyst of liver | Cyst of liver (disorder) | Hepatic cyst | Liver cyst | Liver cyst (disorder)
BMGC_DS04758,BMG_DS009687,Acalculous Cholecystitis | acalculous cholecystitis
BMGC_DS04759,BMG_DS009748,Acute cholangitis | Acute cholangitis (disorder) | acute cholangitis
BMGC_DS04760,BMG_DS009749,Chronic cholangitis | Chronic cholangitis (disorder) | chronic cholangitis
BMGC_DS04761,BMG_DS009750,Primary cholangitis | Primary cholangitis (disorder)
BMGC_DS04762,BMG_DS009754,Suppurative cholangitis | Suppurative cholangitis (disorder) | suppurative cholangitis
BMGC_DS04763,BMG_DS009765,"Pancreatitis, Acute Hemorrhagic | acute hemorrhagic pancreatitis"
BMGC_DS04764,BMG_DS009766,"Pancreatitis Necrotizing | Pancreatitis, Acute Necrotizing | acute necrotizing pancreatitis"
BMGC_DS04765,BMG_DS009777,Pancreatitis | Peripancreatic Fat Necrosis
BMGC_DS04766,BMG_DS009784,EPI - exocrine pancreatic insufficiency | Exocrine pancreatic insufficiency | Exocrine pancreatic insufficiency (disorder) | Pancreatic exocrine insufficiency | exocrine pancreatic insufficiency
BMGC_DS04767,BMG_DS009823,Disorder of acid-base balance | Disorder of acid-base balance (disorder) | Disturbance of acid-base balance | disorder of acid-base balance
BMGC_DS04768,BMG_DS009850,Idiopathic neonatal haemochromatosis | Idiopathic neonatal hemochromatosis | Neonatal haemochromatosis | Neonatal hemochromatosis | Neonatal hemochromatosis (disorder) | neonatal hemochromatosis
BMGC_DS04769,BMG_DS009851,Haemochromatosis type 2 | Hemochromatosis type 2 | Juvenile haemochromatosis | Juvenile hemochromatosis | Juvenile hemochromatosis (disorder) | hemochromatosis type 2
BMGC_DS04770,BMG_DS009861,Chronic copper deficiency | Copper deficiency | Hypocupraemia | Hypocupremia | Hypocupremia (disorder)
BMGC_DS04771,BMG_DS009869,"Hypercalcemia, Idiopathic, of Infancy"
BMGC_DS04772,BMG_DS009878,Congestive cardiomyopathy due to selenium deficiency | Keshan disease | Keshan disease (disorder)
BMGC_DS04773,BMG_DS009887,Chronic arthritis due to gout | Chronic articular gout | Chronic gouty arthritis | Chronic gouty arthritis (disorder)
BMGC_DS04774,BMG_DS009895,"Gout, HPRT-Related | hypoxanthine guanine phosphoribosyltransferase partial deficiency"
BMGC_DS04775,BMG_DS009896,"Xanthinuria, Type I | xanthinuria type I"
BMGC_DS04776,BMG_DS009897,"Combined molybdoflavoprotein enzyme deficiency | Combined molybdoflavoprotein enzyme deficiency (disorder) | Combined xanthine oxidase and aldehyde oxidase deficiency | Combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency | Combined xanthine oxidase and sulphite oxidase and aldehyde oxidase deficiency | Deficiency of molybdenum cofactor | Hereditary xanthinuria type 2 | Hereditary xanthinuria, type 2 | Molybdenum cofactor deficiency | Xanthine oxidase-sulfite oxidase deficiency | Xanthine oxidase-sulphite oxidase deficiency | sulfite oxidase deficiency due to molybdenum cofactor deficiency"
BMGC_DS04777,BMG_DS009898,Adenine phosphoribosyltransferase deficiency | Adenine phosphoribosyltransferase deficiency (disorder) | adenine phosphoribosyltransferase deficiency
BMGC_DS04778,BMG_DS009899,"APRT deficiency, Japanese type | Adenine phosphoribosyltransferase (APRT) deficiency, Japanese type | Adenine phosphoribosyltransferase deficiency, Japanese type | Adenine phosphoribosyltransferase deficiency, Japanese type (disorder)"
BMGC_DS04779,BMG_DS009902,(Adenosine deaminase deficiency) or (other specified disturbance of amino acid metabolism) | (Adenosine deaminase deficiency) or (other specified disturbance of amino acid metabolism) (disorder) | ADA - Adenosine aminohydrolase deficiency | ADA deficiency | Adenosine aminohydrolase deficiency | Adenosine deaminase deficiency | Adenosine deaminase deficiency (disorder) | Adenosine-deaminase deficiency | Deficiency of adenosine deaminase | Other specified disturbance of amino-acid metabolism | adenosine deaminase deficiency
BMGC_DS04780,BMG_DS009903,Deficiency of inosine phosphorylase | Deficiency of purine-nucleoside phosphorylase | NP - Nucleoside phosphorylase deficiency | NP deficiency | Nucleoside phosphorylase deficiency | PNP - Purine nucleoside phosphorylase deficiency | PNP deficiency | Purine nucleoside phosphorylase deficiency | Purine-nucleoside phosphorylase deficiency | Purine-nucleoside phosphorylase deficiency (disorder) | purine nucleoside phosphorylase deficiency
BMGC_DS04781,BMG_DS009904,ASase - Adenylosuccinate lyase deficiency | Adenylosuccinate deficiency | Adenylosuccinate lyase deficiency | Adenylosuccinate lyase deficiency (disorder) | Deficiency of adenylosuccinate lyase | Succinyladenosinuria | Succinylpurinaemic autism | Succinylpurinemic autism | adenylosuccinate lyase deficiency
BMGC_DS04782,BMG_DS009907,"Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency | Hereditary orotic aciduria type 1 | Hereditary orotic aciduria, type 1 | Hereditary orotic aciduria, type 1 (disorder) | OPRT AND OMP decarboxylase deficiency | Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency | UMP synthase deficiency | UMPS - Uridine monophosphate synthase deficiency | Uridine monophosphate synthase deficiency"
BMGC_DS04783,BMG_DS009910,"Xeroderma pigmentosum group A | Xeroderma pigmentosum, group A | Xeroderma pigmentosum, group A (disorder) | xeroderma pigmentosum group A"
BMGC_DS04784,BMG_DS009911,"Xeroderma pigmentosum group B | Xeroderma pigmentosum, group B | Xeroderma pigmentosum, group B (disorder) | xeroderma pigmentosum group B"
BMGC_DS04785,BMG_DS009912,"Xeroderma Pigmentosum, Complementation Group D | xeroderma pigmentosum group D"
BMGC_DS04786,BMG_DS009913,xeroderma pigmentosum group F
BMGC_DS04787,BMG_DS009914,"Xeroderma pigmentosum group G | Xeroderma pigmentosum, group G | Xeroderma pigmentosum, group G (disorder) | xeroderma pigmentosum group G"
BMGC_DS04788,BMG_DS009918,Glucose 6-phosphate transport defect | Glucose-6-phosphate transport defect | Glucose-6-phosphate transport defect (disorder) | Glycogen storage disease type Ib | glycogen storage disease Ib
BMGC_DS04789,BMG_DS009919,"Glycogen storage disease type 9 | Glycogen storage disease, type IX | Glycogen storage disease, type IX (disorder)"
BMGC_DS04790,BMG_DS009921,GSD X | GSD X - glycogen storage disease type X | Glycogen storage disease type X | Glycogen storage disease type X (disorder) | Glycogenosis due to inactive phosphorylase AND kinase | Muscle phosphoglycerate mutase deficiency | Muscle phosphoglycerate mutase deficiency (disorder) | Phosphoglucomutase deficiency | glycogen storage disease due to phosphoglycerate mutase deficiency
BMGC_DS04791,BMG_DS009922,Classical galactosaemia | Classical galactosemia | Classical galactosemia (disorder) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Deficiency of UTP-hexose-1-phosphate uridylyltransferase | Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) | Deficiency of galactose-1-phosphate uridyl transferase | Deficiency of galactose-1-phosphate uridylyltransferase | Deficiency of hexose-1-phosphate uridylyltransferase | Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase | Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) | Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase | Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) | Deficiency of uridyl transferase | GALT | GALT deficiency | Galactose-1-phosphate uridyl transferase deficiency | Galactose-1-phosphate uridyltransferase deficiency | Transferase deficiency galactosaemia | Transferase deficiency galactosemia | UTP-hexose-1-phosphate uridyltransferase deficiency | classic galactosemia
BMGC_DS04792,BMG_DS009923,"Classical galactosaemia, homozygous Duarte-type | Classical galactosemia, homozygous Duarte-type | Classical galactosemia, homozygous Duarte-type (disorder)"
BMGC_DS04793,BMG_DS009926,Deficiency of galactokinase | Deficiency of galactokinase (disorder) | GALK (galactokinase) deficiency | Galactokinase deficiency | Galactokinase deficiency galactosaemia | Galactokinase deficiency galactosemia | Galactosaemia - galactokinase deficiency | Galactosaemia II | Galactosemia - galactokinase deficiency | Galactosemia II | galactokinase deficiency
BMGC_DS04794,BMG_DS009928,Deficiency of fructokinase | Deficiency of fructokinase (disorder) | essential fructosuria
BMGC_DS04795,BMG_DS009930,Pentosuria | pentosuria
BMGC_DS04796,BMG_DS009932,"2-Oxoglutarate glyoxylate carboligase deficiency | Alanine-glycoxylate aminotransferase deficiency | Alanine-glyoxylate aminotransferase deficiency | Glycolic aciduria | Oxalosis type I | Primary hyperoxaluria type I | Primary hyperoxaluria, type I | Primary hyperoxaluria, type I (disorder) | primary hyperoxaluria type 1"
BMGC_DS04797,BMG_DS009933,Primary hyperoxaluria type 2 | primary hyperoxaluria type 2
BMGC_DS04798,BMG_DS009944,"Lactase Deficiency, Congenital | congenital lactase deficiency"
BMGC_DS04799,BMG_DS009946,"Lactose Intolerance, Adult Type | lactose intolerance adult type"
BMGC_DS04800,BMG_DS009950,Congenital glucose-galactose intolerance | Congenital glucose-galactose malabsorption | Congenital glucose-galactose malabsorption (disorder) | glucose-galactose malabsorption
BMGC_DS04801,BMG_DS009951,"Alpha, alpha-trehalase deficiency | Trehalase deficiency | Trehalase deficiency (disorder) | Trehalose intolerance | alpha, alpha-Trehalase deficiency | diarrhea-vomiting due to trehalase deficiency"
BMGC_DS04802,BMG_DS009957,NADH cytochrome B5 reductase deficiency | methemoglobinemia due to deficiency of methemoglobin reductase
BMGC_DS04803,BMG_DS009958,PEPCK - Phosphoenolpyruvate carboxykinase deficiency | Phosphoenolpyruvate carboxykinase (GTP) deficiency | Phosphoenolpyruvate carboxykinase deficiency | Phosphoenolpyruvate carboxykinase deficiency (disorder) | phosphoenolpyruvate carboxykinase deficiency
BMGC_DS04804,BMG_DS009962,Anapolipoproteinaemia | Anapolipoproteinemia | Familial apoC-II deficiency | Familial apolipoprotein C-II deficiency | Familial apolipoprotein C-II deficiency (disorder) | familial apolipoprotein C-II deficiency
BMGC_DS04805,BMG_DS009972,Fucosidosis | Fucosidosis Type I
BMGC_DS04806,BMG_DS009973,Fucosidosis | Fucosidosis Type II
BMGC_DS04807,BMG_DS009974,Aspartylglucosaminidase deficiency | Aspartylglucosaminuria | Aspartylglucosaminuria (disorder) | Aspartylglycosaminuria | Aspartylglycosylaminase deficiency | Disorders of sialic acid metabolism | aspartylglucosaminuria
BMGC_DS04808,BMG_DS009975,Mucolipidoses | Type I Mucolipidosis | sialidosis
BMGC_DS04809,BMG_DS009976,Neuraminidase 1 deficiency
BMGC_DS04810,BMG_DS009981,GALACTOSIALIDOSIS | galactosialidosis
BMGC_DS04811,BMG_DS009982,Cytochrome-c Oxidase Deficiency | cytochrome-c oxidase deficiency disease
BMGC_DS04812,BMG_DS009983,Chanarin-Dorfman disease | Chanarin-Miranda syndrome | Dorfman-Chanarin disease | Ichthyosiform erythroderma with leucocyte vacuolation | Ichthyosiform erythroderma with leukocyte vacuolation | Ichthyotic neutral lipid storage disease | Lipid storage myopathy AND congenital ichthyosis | Neutral lipid storage disease | Triglyceride storage disease with ichthyosis | Triglyceride storage disease with ichthyosis (disorder)
BMGC_DS04813,BMG_DS009986,"Niemann-Pick Disease, Type A | Niemann-Pick disease type A"
BMGC_DS04814,BMG_DS009987,"Niemann-Pick Disease, Type B | Niemann-Pick disease type B"
BMGC_DS04815,BMG_DS009991,"Niemann-Pick Disease, Type C | Niemann-Pick Disease, Type D"
BMGC_DS04816,BMG_DS009992,"Niemann-Pick Disease, Type B | Niemann-Pick Disease, Type E | Niemann-Pick disease type E"
BMGC_DS04817,BMG_DS009993,"Gaucher Disease | Gaucher Disease, Type 2 | Gaucher disease type II"
BMGC_DS04818,BMG_DS009994,"Gaucher Disease | Gaucher Disease, Type 3 | Gaucher disease type III"
BMGC_DS04819,BMG_DS009995,"Late-Onset Globoid Cell Leukodystrophy | Leukodystrophy, Globoid Cell | adult Krabbe disease"
BMGC_DS04820,BMG_DS009996,Farber Lipogranulomatosis | Farber lipogranulomatosis
BMGC_DS04821,BMG_DS009999,Metachromatic Leukodystrophy due to Saposin B Deficiency | metachromatic leukodystrophy due to saposin B deficiency
BMGC_DS04822,BMG_DS010000,Multiple Sulfatase Deficiency Disease | mucosulfatidosis
BMGC_DS04823,BMG_DS010001,"GM1 gangliosidosis type 1 | Gangliosidosis, GM1 | Gangliosidosis, Generalized GM1, Type 1"
BMGC_DS04824,BMG_DS010002,"GM1 gangliosidosis type 2 | Gangliosidosis, GM1 | Gangliosidosis, Generalized GM1, Type 2"
BMGC_DS04825,BMG_DS010003,"GM1 gangliosidosis type 3 | Gangliosidosis, GM1 | Gangliosidosis, Generalized GM1, Type 3"
BMGC_DS04826,BMG_DS010004,"GM2 gangliosidosis | Gangliosidoses, GM2"
BMGC_DS04827,BMG_DS010005,"GM2 gangliosidosis, AB variant | Tay-Sachs Disease, AB Variant | Tay-Sachs disease AB variant"
BMGC_DS04828,BMG_DS010006,"GM>2< gangliosidosis, type 3 | Juvenile GM2 gangliosidosis | Juvenile GM2 gangliosidosis (disorder)"
BMGC_DS04829,BMG_DS010013,"Adrenal hyperplasia, congenital, type 5 | congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"
BMGC_DS04830,BMG_DS010018,Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency | congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
BMGC_DS04831,BMG_DS010019,corticosterone methyloxidase type 1 deficiency
BMGC_DS04832,BMG_DS010020,"17-Hydroxysteroid Dehydrogenase Deficiency | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"
BMGC_DS04833,BMG_DS010021,"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | Pseudovaginal Perineoscrotal Hypospadias"
BMGC_DS04834,BMG_DS010022,Androgen-Insensitivity Syndrome | Reifenstein Syndrome | partial androgen insensitivity syndrome
BMGC_DS04835,BMG_DS010030,Familial intrahepatic cholestasis | Fatal intrahepatic cholestasis | PFIC - progressive familial intrahepatic cholestasis | Progressive familial intrahepatic cholestasis | Progressive intrahepatic cholestasis | Progressive intrahepatic cholestasis (disorder) | progressive familial intrahepatic cholestasis
BMGC_DS04836,BMG_DS010032,"Aagenaes syndrome | Cholestasis-edema syndrome, Norwegian type | Cholestasis-edema syndrome, Norwegian type (disorder) | Cholestasis-lymphedema syndrome | Cholestasis-lymphoedema syndrome | Cholestasis-oedema syndrome, Norwegian type | Cholestatic jaundice with hereditary lymphedema | Cholestatic jaundice with hereditary lymphoedema | Norwegian cholestasis"
BMGC_DS04837,BMG_DS010035,Cholestasis of pregnancy | Cholestasis of pregnancy (disorder) | Intrahepatic cholestasis of pregnancy | Intrahepatic cholestasis of pregnancy (disorder) | RICP - recurrent intrahepatic cholestasis of pregnancy | Recurrent intrahepatic cholestasis of pregnancy | Recurrent jaundice of pregnancy | intrahepatic cholestasis of pregnancy
BMGC_DS04838,BMG_DS010039,Familial porphyria cutanea tarda | Familial porphyria cutanea tarda (disorder) | Hereditary porphyria cutanea tarda | PCT (porphyria cutanea tarda) type II | familial porphyria cutanea tarda
BMGC_DS04839,BMG_DS010043,ALA dehydratase deficiency porphyria | ALAD deficiency | ALADH deficiency | Acute hepatic porphyria | Delta-aminolaevulinate dehydrase deficiency | Delta-aminolevulinate dehydrase deficiency | Hereditary delta-aminolevulinic aciduria | Porphobilinogen synthase deficiency | Porphobilinogen synthase deficiency (disorder) | Porphyria due to delta-aminolevulinate dehydratase deficiency | Porphyria of Doss | porphyria due to ALA dehydratase deficiency
BMGC_DS04840,BMG_DS010046,"Ehlers-Danlos syndrome classic type 1 | Ehlers-Danlos syndrome type 1 | Ehlers-Danlos syndrome, classic type, 1"
BMGC_DS04841,BMG_DS010047,"Ehlers-Danlos syndrome type 2 | Ehlers-Danlos syndrome, classic type, 2"
BMGC_DS04842,BMG_DS010048,"Benign hypermobility syndrome | Ehlers-Danlos syndrome hypermobility type | Ehlers-Danlos syndrome, benign hypermobile form | Ehlers-Danlos syndrome, hypermobility type | Ehlers-Danlos syndrome, type 3 | Ehlers-Danlos syndrome, type 3 (disorder) | Hypermobile Ehlers-Danlos syndrome | Hypermobile Ehlers-Danlos syndrome (disorder)"
BMGC_DS04843,BMG_DS010049,"Ehlers-Danlos Syndrome, Type IV | Ehlers-Danlos syndrome, vascular type"
BMGC_DS04844,BMG_DS010050,"autosomal dominant Ehlers-Danlos syndrome, vascular type"
BMGC_DS04845,BMG_DS010051,"autosomal recessive Ehlers-Danlos syndrome, vascular type | autosomal recessive type IV Ehlers-Danlos syndrome"
BMGC_DS04846,BMG_DS010052,Ehlers-Danlos syndrome type 5 | X-linked Ehlers-Danlos syndrome | X-linked cardiac valvular dysplasia
BMGC_DS04847,BMG_DS010053,"Ehlers-Danlos syndrome type 6 | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | brittle cornea syndrome | brittle cornea syndrome 1"
BMGC_DS04848,BMG_DS010055,Ehlers-Danlos syndrome 6B | brittle cornea syndrome 1
BMGC_DS04849,BMG_DS010057,"Ehlers-Danlos Syndrome, Type VIII | Ehlers-Danlos syndrome, periodontitis type"
BMGC_DS04850,BMG_DS010060,"Cutis Laxa, Autosomal Dominant | autosomal dominant cutis laxa"
BMGC_DS04851,BMG_DS010061,autosomal recessive cutis laxa type 1 | autosomal recessive cutis laxa type I
BMGC_DS04852,BMG_DS010063,occipital horn syndrome
BMGC_DS04853,BMG_DS010064,De Barsy syndrome | autosomal recessive cutis laxa type III | de Barsy syndrome
BMGC_DS04854,BMG_DS010065,"Cutis Laxa, Autosomal Recessive, Type IIA | autosomal recessive cutis laxa type 2A"
BMGC_DS04855,BMG_DS010068,"Neonatal lethal osteogenesis imperfecta congenita | Osteogenesis imperfecta type II, dominant form | Osteogenesis imperfecta, dominant perinatal lethal | Osteogenesis imperfecta, dominant perinatal lethal (disorder) | osteogenesis imperfecta type 2"
BMGC_DS04856,BMG_DS010071,Osteogenesis imperfecta type III | Osteogenesis imperfecta type III (disorder) | osteogenesis imperfecta type 3
BMGC_DS04857,BMG_DS010072,"Osteogenesis imperfecta type IV | Osteogenesis imperfecta type IV (disorder) | Osteogenesis imperfecta with normal sclerae, dominant form | Osteogenesis imperfecta, type IV | osteogenesis imperfecta type 4"
BMGC_DS04858,BMG_DS010075,epidermolysis bullosa dystrophica Neurotrophica
BMGC_DS04859,BMG_DS010076,epidermolysis bullosa with congenital localized absence of skin and deformity of nails
BMGC_DS04860,BMG_DS010078,"Adult junctional epidermolysis bullosa | Adult junctional epidermolysis bullosa (disorder) | Epidermolysis bullosa junctionalis, Disentis type | junctional epidermolysis bullosa, non-Herlitz type"
BMGC_DS04861,BMG_DS010081,Butyrylcholinesterase deficiency | Cholinesterase deficiency | Plasma cholinesterase deficiency | Pseudocholinesterase deficiency | Pseudocholinesterase deficiency (disorder) | Serum cholinesterase defect | Serum cholinesterase defect (disorder) | Serum cholinesterase deficiency | Suxamethonium paralysis
BMGC_DS04862,BMG_DS010083,AL amyloidosis | Amyloid light-chain amyloidosis | Amyloid light-chain amyloidosis (disorder) | Primary amyloidosis | Primary amyloidosis (disorder) | Primary amyloidosis of light chain type
BMGC_DS04863,BMG_DS010086,"ATTRV30M amyloidosis | Amyloid Neuropathies, Familial | Familial Amyloid Neuropathy, Portuguese Type"
BMGC_DS04864,BMG_DS010087,"Amyloid Neuropathies, Familial | Familial Amyloid Polyneuropathy, Jewish Type"
BMGC_DS04865,BMG_DS010088,"Amyloid Neuropathies, Familial | Amyloid Polyneuropathy, Swiss Type"
BMGC_DS04866,BMG_DS010089,"Amyloidosis, familial visceral | familial visceral amyloidosis"
BMGC_DS04867,BMG_DS010090,Cryopyrin-Associated Periodic Syndromes | Muckle-Wells Syndrome | Muckle-Wells syndrome
BMGC_DS04868,BMG_DS010092,"Cerebral Amyloid Angiopathy, Familial | Familial Cerebral Amyloid Angiopathy | ITM2B amyloidosis | cerebral amyloid angiopathy"
BMGC_DS04869,BMG_DS010094,Amyloidosis cutis | Amyloidosis of dermis | Cutaneous amyloidosis | Cutaneous amyloidosis (disorder) | Primary cutaneous amyloidosis | Primary localised cutaneous amyloidosis | Primary localized cutaneous amyloidosis | Primary localized cutaneous amyloidosis (disorder) | primary cutaneous amyloidosis
BMGC_DS04870,BMG_DS010096,"Amyloidosis, Cutaneous Bullous | amyloidosis, cutaneous bullous"
BMGC_DS04871,BMG_DS010102,AA amyloidosis | Beta-2 microglobulin amyloidosis | Dialysis-associated amyloidosis | Haemodialysis-associated amyloidosis | Hemodialysis-associated amyloidosis | Hemodialysis-associated amyloidosis (disorder) | beta-2-Microglobulin amyloidosis | serum amyloid A amyloidosis | wild type ABeta2M amyloidosis
BMGC_DS04872,BMG_DS010104,AS transthyretin amyloidosis | Amyloid heart muscle disease | Cardiac amyloidosis | Senile cardiac amyloidosis | Senile cardiac amyloidosis (disorder) | Stiff heart syndrome | Wild-type transthyretin cardiac amyloidosis
BMGC_DS04873,BMG_DS010107,Acid Phosphatase Deficiency | lysosomal acid phosphatase deficiency
BMGC_DS04874,BMG_DS010108,"Congenital hypophosphatasia | Fetal hypophosphatasia | Foetal hypophosphatasia | Hypophosphatasia, infantile type | Infantile hypophosphatasia | Infantile hypophosphatasia (disorder) | Phosphoethanolaminuria | Rathbun syndrome"
BMGC_DS04875,BMG_DS010109,"Adult hypophosphatasia | Adult hypophosphatasia (disorder) | Hypophosphatasia, adult type"
BMGC_DS04876,BMG_DS010110,Chronic congenital idiopathic hyperphosphatasaemia | Chronic congenital idiopathic hyperphosphatasemia | Familial idiopathic hyperphosphatasaemia | Familial idiopathic hyperphosphatasemia | Familial osteoectasia | Hyperostosis corticalis deformans juvenilis | Hyperphosphatasaemia with bone disease | Hyperphosphatasemia with bone disease | Hyperphosphatasemia with bone disease (disorder) | Juvenile Paget disease | Osteochalasia desmalis familiaris | Osteoectasia with hyperphosphatasia | juvenile Paget disease
BMGC_DS04877,BMG_DS010111,Enterokinase Deficiency | congenital enteropathy due to enteropeptidase deficiency | enterokinase deficiency
BMGC_DS04878,BMG_DS010112,Congenital trypsinogen deficiency | Pancreatic trypsinogen deficiency | Pancreatic trypsinogen deficiency (disorder) | trypsinogen deficiency
BMGC_DS04879,BMG_DS010113,Deficiency of glycerol kinase | Deficiency of glycerol kinase (disorder) | Familial hyperglycerolaemia | Familial hyperglycerolemia | GK1 deficiency | GKD - Glycerol kinase deficiency | Glycerol kinase deficiency | Hyperglycerolaemia | Hyperglycerolemia | inborn glycerol kinase deficiency
BMGC_DS04880,BMG_DS010114,Acatalasaemia | Acatalasemia | Acatalasemia (disorder) | Acatalasia | Acatalasia (disorder) | Catalase deficiency | Takahara disease | acatalasia
BMGC_DS04881,BMG_DS010117,Ethanolamine kinase deficiency | Ethanolaminosis | Ethanolaminosis (disorder) | Ethanolaminuria | ethanolaminosis
BMGC_DS04882,BMG_DS010119,Alstrom Syndrome | Alstrom syndrome
BMGC_DS04883,BMG_DS010127,"Acidosis, Renal Tubular | Renal Tubular Acidosis, Type II | proximal renal tubular acidosis"
BMGC_DS04884,BMG_DS010128,"Pseudohypoaldosteronism | Pseudohypoaldosteronism, Type I | autosomal recessive pseudohypoaldosteronism type 1 | pseudohypoaldosteronism type 1"
BMGC_DS04885,BMG_DS010132,"Acquired Nephrogenic Diabetes Insipidus | Diabetes Insipidus, Nephrogenic"
BMGC_DS04886,BMG_DS010133,"Hypokalemia, Familial | hypokalemic alkalosis, familial, with specific renal tubulopathy"
BMGC_DS04887,BMG_DS010135,Hashitoxic periodic paralysis | Thyrotoxic periodic paralysis | Thyrotoxic periodic paralysis (disorder) | thyrotoxic periodic paralysis
BMGC_DS04888,BMG_DS010137,Primary hypomagnesaemia | Primary hypomagnesemia | Primary hypomagnesemia (disorder) | renal hypomagnesemia 3
BMGC_DS04889,BMG_DS010139,Gitelman Syndrome | Gitelman syndrome
BMGC_DS04890,BMG_DS010148,"Atypical PKU | Atypical phenylketonuria | DHPR - Dihydropteridine reductase deficiency | DHPR deficiency | Dihydropteridine reductase deficiency | Dihydropteridine reductase deficiency (disorder) | Hyperphenylalaninaemia, type IV | Hyperphenylalaninemia, type IV | Phenylketonuria II | Phenylketonurias | dihydropteridine reductase deficiency"
BMGC_DS04891,BMG_DS010149,"GTP cyclohydrolase I deficiency | Hyperphenylalaninemia, BH4-Deficient, B"
BMGC_DS04892,BMG_DS010150,"Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | dopa-responsive dystonia due to sepiapterin reductase deficiency | sepiapterin reductase deficiency"
BMGC_DS04893,BMG_DS010153,Tryptophanuria With Dwarfism | Tryptophanuria with dwarfism
BMGC_DS04894,BMG_DS010154,Hydroxykynureninuria | Hydroxykynureninuria (disorder) | encephalopathy due to hydroxykynureninuria | hydroxykynureninuria
BMGC_DS04895,BMG_DS010156,Blue diaper syndrome | Tryptophan malabsorption syndrome | Tryptophan malabsorption syndrome (disorder) | blue diaper syndrome
BMGC_DS04896,BMG_DS010157,Hooft disease
BMGC_DS04897,BMG_DS010159,tyrosinemia
BMGC_DS04898,BMG_DS010160,Excessive accumulation of tyrosine in tissue | Tyrosinosis | Tyrosinosis (disorder)
BMGC_DS04899,BMG_DS010163,Tyrosine Transaminase Deficiency Disease | Tyrosinemias | tyrosinemia type II
BMGC_DS04900,BMG_DS010165,"Tyrosinemia, Type I | Tyrosinemias | tyrosinemia type I"
BMGC_DS04901,BMG_DS010168,Oculocutaneous albinism type 1 | Oculocutaneous albinism type 1 (disorder) | TYR-gene related oculocutaneous albinism type 1 | oculocutaneous albinism type 1
BMGC_DS04902,BMG_DS010169,Albinoidism | OCA2 - Tyrosinase-positive oculocutaneous albinism | Oculocutaneous albinism type 2 | Tyrosinase-positive oculocutaneous albinism | Tyrosinase-positive oculocutaneous albinism (disorder) | oculocutaneous albinism type 2 | oculocutaneous albinism type II
BMGC_DS04903,BMG_DS010174,"Aland island eye disease | Forsius-Eriksson syndrome | Forsius-Eriksson type ocular albinism | Ocular albinism, type II | Ocular albinism, type II (disorder)"
BMGC_DS04904,BMG_DS010179,Disorder of histidine metabolism | Disorder of histidine metabolism (disorder) | histidine metabolism disease | inborn disorder of histidine metabolism
BMGC_DS04905,BMG_DS010181,Urocanase deficiency | Urocanate hydratase deficiency | Urocanate hydratase deficiency (disorder) | Urocanic aciduria | urocanase deficiency | urocanic aciduria
BMGC_DS04906,BMG_DS010188,Deficiency of glutamate-cysteine ligase | Gamma-glutamyl cysteine synthase deficiency | Gamma-glutamylcysteine synthetase deficiency | Glutamate-cysteine ligase deficiency | Glutamate-cysteine ligase deficiency (disorder)
BMGC_DS04907,BMG_DS010189,Gamma-glutamyl transferase deficiency | Gamma-glutamyl transpeptidase deficiency | Gamma-glutamyl transpeptidase deficiency (disorder) | Glutathionuria | gamma-Glutamyltransferase deficiency | gamma-glutamyl transpeptidase deficiency
BMGC_DS04908,BMG_DS010190,5-oxoprolinase deficiency
BMGC_DS04909,BMG_DS010192,Hyperprolinaemia | Hyperprolinemia | Hyperprolinemia (disorder) | hyperprolinemia
BMGC_DS04910,BMG_DS010193,"Hyperprolinaemia type I | Hyperprolinaemia, type I | Hyperprolinemia type I | Hyperprolinemia, type I | Proline dehydrogenase deficiency | Proline dehydrogenase deficiency (disorder) | Proline oxidase deficiency | hyperprolinemia type 1"
BMGC_DS04911,BMG_DS010194,Hydroxyprolinaemia | Hydroxyprolinemia | Hyperhydroxyprolinaemia | Hyperhydroxyprolinemia | Hyperhydroxyprolinemia (disorder) | hydroxyprolinemia
BMGC_DS04912,BMG_DS010195,Deficiency of Xaa-Pro dipeptidase | Deficiency of Xaa-Pro dipeptidase (disorder) | Deficiency of imidodipeptidase | Deficiency of prolidase | Deficiency of proline dipeptidase | Deficiency of proline dipeptidase (disorder) | prolidase deficiency
BMGC_DS04913,BMG_DS010199,Glucoglycinuria | Glucoglycinuria (finding)
BMGC_DS04914,BMG_DS010200,HHH syndrome | ornithine translocase deficiency
BMGC_DS04915,BMG_DS010201,Deficiency of citrulline phosphorylase | Deficiency of ornithine carbamoyltransferase | Deficiency of ornithine transcarbamylase | OCT (ornithine carbamoyltransferase) deficiency | OTC (ornithine transcarbamylase) deficiency | OTC-gene related ornithine carbamoyltransferase deficiency | Ornithine carbamoyltransferase deficiency | Ornithine carbamoyltransferase deficiency (disorder) | Ornithine transcarbamoylase deficiency | Ornithine transcarbamylase deficiency | ornithine carbamoyltransferase deficiency
BMGC_DS04916,BMG_DS010202,"Amino acid acetyltransferase deficiency | Congenital AGA deficiency | Hyperammonaemia, type III | Hyperammonemia, type III | Hyperammonemia, type III (disorder) | N-Acetylglutamate synthase deficiency | N-acetylglutamate synthetase deficiency | N-acetylglutamate transferase deficiency | NAGS - N-Acetylglutamate synthase deficiency | NAGS deficiency | NAGS-gene related hyperammonaemia type III | NAGS-gene related hyperammonemia type III | hyperammonemia due to N-acetylglutamate synthase deficiency"
BMGC_DS04917,BMG_DS010205,Late-onset citrullinaemia type 1 | Late-onset citrullinaemia type I | Late-onset citrullinemia type 1 | Late-onset citrullinemia type I | Late-onset citrullinemia type I (disorder)
BMGC_DS04918,BMG_DS010206,Argininosuccinic Aciduria | argininosuccinic aciduria
BMGC_DS04919,BMG_DS010207,ARG1-gene related arginase deficiency | ARGI deficiency | Arginase 1-gene related arginase deficiency | Arginase deficiency | Arginase deficiency (disorder) | Argininaemia | Argininemia | Deficiency of arginase | Hyperargininaemia | Hyperargininemia | hyperargininemia
BMGC_DS04920,BMG_DS010209,Disorder of lysine AND/OR hydroxylysine metabolism | Disorder of lysine AND/OR hydroxylysine metabolism (disorder) | inborn disorder of lysine and hydroxylysine metabolism
BMGC_DS04921,BMG_DS010210,Hyperlysinemias | hyperlysinemia
BMGC_DS04922,BMG_DS010212,"Hyperlysinemia, Periodic | Hyperlysinemias | hyperlysinuria with hyperammonemia"
BMGC_DS04923,BMG_DS010213,Saccharopinuria | Saccharopinuria (disorder) | saccharopinuria
BMGC_DS04924,BMG_DS010217,"Hyperglycinemia, Nonketotic | Hyperglycinemia, Nonketotic, Type I"
BMGC_DS04925,BMG_DS010218,"Hyperglycinemia, Nonketotic | Hyperglycinemia, Nonketotic, Type II"
BMGC_DS04926,BMG_DS010219,Deficiency of the sarcosine dehydrogenase complex | Demethylation defect of N-methylglycine | Hypersarcosinaemia | Hypersarcosinemia | Sarcosinaemia | Sarcosine dehydrogenase deficiency | Sarcosine dehydrogenase deficiency (disorder) | Sarcosinemia | Sarcosinuria | sarcosinemia
BMGC_DS04927,BMG_DS010223,Classic Maple Syrup Urine Disease | Maple Syrup Urine Disease | classic maple syrup urine disease
BMGC_DS04928,BMG_DS010224,Intermittent Maple Syrup Urine Disease | Maple Syrup Urine Disease | intermittent maple syrup urine disease
BMGC_DS04929,BMG_DS010227,Hypervalinaemia | Hypervalinemia | Hypervalinemia (disorder) | Valinaemia | Valine transaminase deficiency | Valinemia
BMGC_DS04930,BMG_DS010228,Hyperleucine-Isoleucinemia | hyperleucine-Isoleucinemia
BMGC_DS04931,BMG_DS010229,IVD-gene related isovaleryl-coenzyme A dehydrogenase deficiency | Isovaleric acid CoA dehydrogenase deficiency | Isovaleric acid-CoA dehydrogenase deficiency | Isovaleric acidaemia | Isovaleric acidemia | Isovaleryl-CoA dehydrogenase deficiency | Isovaleryl-coenzyme A dehydrogenase deficiency | Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | isovaleric acidemia
BMGC_DS04932,BMG_DS010232,Hyperglycinaemia with ketosis and leucopenia | Hyperglycinemia with ketosis and leukopenia | Ketotic glycinaemia | Ketotic glycinemia | Ketotic hyperglycinaemia | Ketotic hyperglycinemia | PCC - Propionyl-CoA carboxylase deficiency | Propionic acidaemia | Propionic acidemia | Propionic acidemia (disorder) | Propionic aciduria | Propionyl-CoA carboxylase deficiency | propionic acidemia
BMGC_DS04933,BMG_DS010233,Holocarboxylase Synthetase Deficiency | holocarboxylase synthetase deficiency
BMGC_DS04934,BMG_DS010234,Disorder of amino acid metabolism: [methylmalonic acidaemia] or [other specified straight-chain] | Disorder of amino acid metabolism: [methylmalonic acidaemia] or [other specified straight-chain] (disorder) | Disorder of amino acid metabolism: [methylmalonic acidemia] or [other specified straight-chain] | MMA - Methylmalonic aciduria | Methylmalonic acidaemia | Methylmalonic acidemia | Methylmalonic acidemia (disorder) | Other specified disturbance of other straight-chain amino-acid metabolism | methylmalonic acidemia
BMGC_DS04935,BMG_DS010238,"GA I | Glutaric acidaemia, type 1 | Glutaric acidemia, type 1 | Glutaric aciduria type I | Glutaric aciduria, type 1 | Glutaric aciduria, type 1 (disorder) | glutaryl-CoA dehydrogenase deficiency"
BMGC_DS04936,BMG_DS010239,Multiple Acyl Coenzyme A Dehydrogenase Deficiency | multiple acyl-CoA dehydrogenase deficiency
BMGC_DS04937,BMG_DS010243,3-methylcrotonyl CoA carboxylase 1 deficiency | 3-methylcrotonyl-CoA carboxylase 1 deficiency
BMGC_DS04938,BMG_DS010244,3-hydroxy-3-methylglutaric aciduria | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
BMGC_DS04939,BMG_DS010245,Acetyl-CoA carboxylase deficiency | Acetyl-CoA: carboxylase deficiency | Deficiency of acetyl-CoA carboxylase | Deficiency of acetyl-coenzyme A carboxylase | Deficiency of acetyl-coenzyme A carboxylase (disorder) | acetyl-coa carboxylase deficiency
BMGC_DS04940,BMG_DS010248,Deficiency of glutamate formiminotransferase | Deficiency of glutamate formyltransferase | FIGLUria | Formiminoglutamic aciduria | Glutamate formiminotransferase deficiency | Glutamate formiminotransferase deficiency (disorder) | formiminoglutamic aciduria | glutamate formiminotransferase deficiency
BMGC_DS04941,BMG_DS010251,Disorder of sulfur-bearing amino acid including those due to folate and B12 disturbance | Disorder of sulfur-bearing amino acid metabolism | Disorder of sulfur-bearing amino acid metabolism (disorder) | Disorder of sulphur-bearing amino acid including those due to folate and B12 disturbance | Disorder of sulphur-bearing amino acid metabolism | Disorder of transsulfuration | Disorder of transsulphuration | Sulfuraminoacidemia | Sulphuraminoacidaemia
BMGC_DS04942,BMG_DS010253,Cystathionine gamma-lyase deficiency | Cystathionine gamma-lyase deficiency (disorder) | Deficiency of cystathionase | Deficiency of cysteine desulfhydrase | Deficiency of cysteine desulphydrase | Deficiency of cystine desulfhydrase | Deficiency of cystine desulphydrase | Deficiency of homoserine deaminase | Gamma-cystathionase deficiency | cystathioninuria
BMGC_DS04943,BMG_DS010254,Homocystinaemia | Homocystinemia | Homocystinemia (disorder)
BMGC_DS04944,BMG_DS010257,Hepatic methionine adenosyltransferase deficiency | Hepatic methionine adenosyltransferase deficiency (disorder) | MAT deficiency | Methionine adenosyltransferase deficiency | methionine adenosyltransferase deficiency
BMGC_DS04945,BMG_DS010258,Methionine Malabsorption Syndrome | methionine malabsorption syndrome
BMGC_DS04946,BMG_DS010259,"Tyrosinemia, Type III | Tyrosinemias | tyrosinemia type III"
BMGC_DS04947,BMG_DS010260,Sulfite oxidase deficiency | Sulfite oxidase deficiency (disorder) | Sulphite oxidase deficiency | Sulphite oxidase deficiency (disorder) | isolated sulfite oxidase deficiency
BMGC_DS04948,BMG_DS010261,"Adolescent cystinosis | Cystinosis, type II | Intermediate cystinosis | Juvenile cystinosis | Juvenile nephropathic cystinosis | Juvenile nephropathic cystinosis (disorder) | Late-onset cystinosis | juvenile nephropathic cystinosis"
BMGC_DS04949,BMG_DS010263,Hyper-beta-alaninaemia | Hyper-beta-alaninemia | Hyper-beta-alaninemia (disorder) | Hyperalaninaemia | Hyperalaninemia | hyper-beta-alaninemia
BMGC_DS04950,BMG_DS010264,succinic semialdehyde dehydrogenase deficiency
BMGC_DS04951,BMG_DS010265,Homocarnosinosis | Homocarnosinosis (disorder) | Serum carnosinase deficiency | homocarnosinosis
BMGC_DS04952,BMG_DS010266,Disorder of fat oxidation | Disorder of fatty acid metabolism | Disorder of fatty acid metabolism (disorder) | Disorders of fatty-acid metabolism | inherited fatty acid metabolism disorder
BMGC_DS04953,BMG_DS010272,Histidinuria renal tubular defect | histidinuria due to a renal tubular defect
BMGC_DS04954,BMG_DS010277,Lysinuric Protein Intolerance | lysinuric protein intolerance
BMGC_DS04955,BMG_DS010282,Iminoglycinuria | Iminoglycinuria (disorder) | iminoglycinuria
BMGC_DS04956,BMG_DS010294,Cardiovascular beriberi | Wet beriberi | Wet beriberi (disorder) | wet beriberi
BMGC_DS04957,BMG_DS010295,Beriberi neuropathy | Beriberi neuropathy (disorder) | Dry beriberi | Dry beriberi (disorder) | Neuropathic beriberi | Neuropathy due to vitamin B1 deficiency | Polyneuropathy in beriberi | Thiamine deficiency neuropathy | Vitamin B>1< deficiency neuropathy | dry beriberi
BMGC_DS04958,BMG_DS010302,Biotin deficiency | Biotin deficiency (disorder) | Deficiency of biotin | Unspecified undernutrition | biotin deficiency
BMGC_DS04959,BMG_DS010307,"1-alpha-hydroxylase deficiency | 25-Hydroxycholecalciferol-1-hydroxylase deficiency | Calcidiol 1-monooxygenase defect | PDDR - Pseudovitamin D deficiency rickets | Pseudo-vitamin-D-deficient rickets | Pseudodeficiency rickets | Pseudovitamin D deficiency rickets | Pseudovitamin D-resistant rickets | VDDR I - Vitamin D-dependent rickets type I | Vitamin D-dependent rickets type I | Vitamin D-dependent rickets, type 1 | Vitamin D-dependent rickets, type 1 (disorder) | vitamin D-dependent rickets, type 1"
BMGC_DS04960,BMG_DS010316,Uraemic neuropathy | Uremic neuropathy | Uremic neuropathy (disorder) | uremic neuropathy
BMGC_DS04961,BMG_DS010328,Calculous pyelonephritis | Calculous pyelonephritis (disorder) | Pyelonephritis due to kidney stone | Pyelonephritis due to kidney stone (disorder)
BMGC_DS04962,BMG_DS010333,Renal glomerular disease | Renal glomerular disease (disorder) | Renal glomerular disorder | Renal glomerular syndrome
BMGC_DS04963,BMG_DS010336,AKD - acute kidney disease | Acute nephropathy | Acute nephropathy (disorder)
BMGC_DS04964,BMG_DS010342,"Glomerulonephritis, Membranoproliferative | Membranoproliferative Glomerulonephritis, Type I"
BMGC_DS04965,BMG_DS010343,"Glomerulonephritis, Membranoproliferative | Membranoproliferative Glomerulonephritis, Type II | dense deposit disease"
BMGC_DS04966,BMG_DS010347,Diffuse mesangial sclerosis | Diffuse mesangial sclerosis (disorder)
BMGC_DS04967,BMG_DS010382,Renal vascular disease | Renal vascular disorder | Renal vascular disorder (disorder) | Vascular disorder of kidney | renal artery disease
BMGC_DS04968,BMG_DS010391,Acquired renal cyst | Acquired renal cystic disease | Acquired renal cystic disease (disorder) | non-congenital cyst of kidney
BMGC_DS04969,BMG_DS010402,Dipsogenic Diabetes Insipidus | dipsogenic diabetes insipidus
BMGC_DS04970,BMG_DS010408,Lower urinary tract infection | Lower urinary tract infectious disease | Lower urinary tract infectious disease (disorder) | UTI - Lower urinary tract infection
BMGC_DS04971,BMG_DS010421,Cystitis glandularis | Cystitis glandularis (disorder) | glandular cystitis
BMGC_DS04972,BMG_DS010424,"Overactive Detrusor | Urinary Bladder, Overactive"
BMGC_DS04973,BMG_DS010531,Fibrosis of corpus cavernosum | Fibrosis of corpus cavernosum (disorder)
BMGC_DS04974,BMG_DS010545,"Female acute pelvic peritonitis | Female pelvic peritonitis, unspecified | acute female pelvic peritonitis"
BMGC_DS04975,BMG_DS010551,Acute salpingitis | Acute salpingitis (disorder) | acute salpingitis
BMGC_DS04976,BMG_DS010553,Chronic salpingitis | Chronic salpingitis (disorder) | chronic salpingitis
BMGC_DS04977,BMG_DS010555,Adenosalpingitis | Adenosis of fallopian tube | Salpingitis isthmica nodosa | Salpingitis isthmica nodosa (disorder) | salpingitis isthmica nodosa
BMGC_DS04978,BMG_DS010557,Inflammatory disease of the uterus | Inflammatory disease of the uterus (disorder) | uterine inflammatory disease
BMGC_DS04979,BMG_DS010560,Endometritis | Endomyometritis | Endomyometritis (disorder) | endomyometritis
BMGC_DS04980,BMG_DS010569,Acute cervicitis | Acute cervicitis (disorder) | acute cervicitis
BMGC_DS04981,BMG_DS010570,Chronic cervicitis | Chronic cervicitis (disorder) | chronic cervicitis
BMGC_DS04982,BMG_DS010605,Endosalpingiosis | Endosalpingiosis (disorder) | endosalpingiosis
BMGC_DS04983,BMG_DS010606,Endometriosis of cervix | Endometriosis of cervix (disorder) | cervix endometriosis
BMGC_DS04984,BMG_DS010647,uterine cervix leukoplakia
BMGC_DS04985,BMG_DS010694,nipples inverted
BMGC_DS04986,BMG_DS010821,mild pre-eclampsia
BMGC_DS04987,BMG_DS010832,Pruritic urticarial papules plaques of pregnancy | pruritic urticarial papules and plaques of pregnancy
BMGC_DS04988,BMG_DS010900,Postpartum endometritis | Puerperal endometritis | Puerperal endometritis (disorder)
BMGC_DS04989,BMG_DS010954,pulmonary immaturity
BMGC_DS04990,BMG_DS010968,Kernicterus | Kernicterus (& [due to isoimmunisation]) | Kernicterus (& [due to isoimmunisation]) (disorder) | Kernicterus (& [due to isoimmunization]) | Kernicterus - due to isoimm. | Kernicterus due to isoimmunisation | Kernicterus due to isoimmunization | Kernicterus due to isoimmunization (disorder) | Neonatal kernicterus | kernicterus due to isoimmunization
BMGC_DS04991,BMG_DS010972,Lucey-Driscoll syndrome | Lucey-Driscoll syndrome (disorder) | Transient familial neonatal hyperbilirubinaemia | Transient familial neonatal hyperbilirubinemia | transient familial neonatal hyperbilirubinemia
BMGC_DS04992,BMG_DS010980,"Tetany | Tetany, Neonatal"
BMGC_DS04993,BMG_DS011013,nocturnal enuresis
BMGC_DS04994,BMG_DS011014,paranoid schizophrenia
BMGC_DS04995,BMG_DS011016,generalized anxiety disorder
BMGC_DS04996,BMG_DS011019,Leucoencephalopathy | Leukoencephalopathies | Leukoencephalopathy | Leukoencephalopathy (disorder)
BMGC_DS04997,BMG_DS011027,"Myelitis, Acute Transverse | Myelitis, Transverse | acute transverse myelitis"
BMGC_DS04998,BMG_DS011029,Epidural Abscess | epidural abscess
BMGC_DS04999,BMG_DS011034,Cavernous Sinus Thrombophlebitis | Cavernous Sinus Thrombosis
BMGC_DS05000,BMG_DS011035,Lateral Sinus Thrombosis | lateral sinus thrombosis
BMGC_DS05001,BMG_DS011087,Kluver-Bucy syndrome
BMGC_DS05002,BMG_DS011093,"Degenerative Diseases, Central Nervous System | Neurodegenerative Diseases"
BMGC_DS05003,BMG_DS011097,Hydrocephalus | Hydrocephalus Ex-Vacuo
BMGC_DS05004,BMG_DS011101,Infantile Neuroaxonal Dystrophy | Neuroaxonal Dystrophies | neurodegeneration with brain iron accumulation 2A
BMGC_DS05005,BMG_DS011103,Alexander Disease | Alexander disease
BMGC_DS05006,BMG_DS011105,Striatonigral Degeneration | striatonigral degeneration
BMGC_DS05007,BMG_DS011108,Essential Tremor | essential tremor
BMGC_DS05008,BMG_DS011119,Marie Cerebellar Ataxia | Spinocerebellar Degenerations | hereditary cerebellar ataxia
BMGC_DS05009,BMG_DS011124,Corticostriatal-Spinal Degeneration | Spinocerebellar Degenerations
BMGC_DS05010,BMG_DS011132,Familial Motor Neuron Disease | Motor Neuron Disease | hereditary motor neuron disease
BMGC_DS05011,BMG_DS011133,"Motor Neuron Disease | Motor Neuron Disease, Lower"
BMGC_DS05012,BMG_DS011134,"Muscular Atrophy, Spinal | Myelopathic Muscular Atrophy"
BMGC_DS05013,BMG_DS011148,"Binswanger Disease | Dementia, Vascular"
BMGC_DS05014,BMG_DS011165,Cerebral Palsy | Monoplegic Cerebral Palsy | cerebral palsy spastic monoplegic
BMGC_DS05015,BMG_DS011168,Peroneal Nerve Paralysis | Peroneal Neuropathies | peroneal nerve paralysis
BMGC_DS05016,BMG_DS011173,"Epilepsy, Reflex | Reflex Epilepsy, Cursive (Running)"
BMGC_DS05017,BMG_DS011174,"Epilepsies, Partial | Gelastic Epilepsy"
BMGC_DS05018,BMG_DS011177,visual epilepsy
BMGC_DS05019,BMG_DS011182,FIAS - focal impaired awareness seizure | Focal impaired awareness seizure | Focal onset impaired awareness epileptic seizure | Focal onset impaired awareness epileptic seizure (finding) | Focal onset impaired awareness seizure | Focal-onset impaired awareness epileptic seizure
BMGC_DS05020,BMG_DS011183,"Secondarily generalised seizures | Secondarily generalized seizures | Secondarily generalized seizures (finding) | Secondarily generalized seizures, NOS"
BMGC_DS05021,BMG_DS011184,Seizures | Tonic Seizures
BMGC_DS05022,BMG_DS011185,Atonic seizure | Atonic seizure (disorder) | Atonic seizure (finding) | Atonic seizure - finding | Atonic seizures | Finding of atonic seizure (finding)
BMGC_DS05023,BMG_DS011186,"Benign Focal Epilepsy, Childhood | Epilepsies, Partial"
BMGC_DS05024,BMG_DS011187,Extratemporal epilepsy | Extratemporal epilepsy (disorder) | extratemporal epilepsy
BMGC_DS05025,BMG_DS011188,IGE - idiopathic generalised epilepsy | IGE - idiopathic generalized epilepsy | Idiopathic generalised epilepsy | Idiopathic generalized epilepsy | Idiopathic generalized epilepsy (disorder) | idiopathic generalized epilepsy
BMGC_DS05026,BMG_DS011189,benign neonatal seizures
BMGC_DS05027,BMG_DS011190,"Juvenile Myoclonic Epilepsy | Myoclonic Epilepsy, Juvenile | juvenile myoclonic epilepsy"
BMGC_DS05028,BMG_DS011191,"Epilepsy, Generalized | Symptomatic Generalized Epilepsy"
BMGC_DS05029,BMG_DS011192,Early myoclonic encephalopathy | Early myoclonic encephalopathy (disorder) | Symptomatic early myoclonic encephalopathy | early myoclonic encephalopathy
BMGC_DS05030,BMG_DS011193,"Epilepsy, Reflex | reflex epilepsy"
BMGC_DS05031,BMG_DS011194,Abdominal Migraine | Migraine Disorders
BMGC_DS05032,BMG_DS011196,Basilar-Type Migraine | Migraine with Aura | migraine with brainstem aura
BMGC_DS05033,BMG_DS011198,Hemiplegic migraine | Hemiplegic migraine (disorder)
BMGC_DS05034,BMG_DS011204,Facial Myokymia | Facial Nerve Diseases | isolated facial myokymia
BMGC_DS05035,BMG_DS011208,Facial Nerve Diseases | Facial Nerve Motor Disorders
BMGC_DS05036,BMG_DS011209,Facial Nerve Diseases | Facial Nerve Sensory Disorders
BMGC_DS05037,BMG_DS011230,Common peroneal nerve lesion | Common peroneal nerve lesion (disorder) | Lateral popliteal nerve lesion | Lesion of common peroneal nerve | Lesion of lateral popliteal nerve | common peroneal nerve lesion
BMGC_DS05038,BMG_DS011232,Charcot-Marie-Tooth disease type 1A
BMGC_DS05039,BMG_DS011233,Charcot-Marie-Tooth disease type 1B
BMGC_DS05040,BMG_DS011234,"Charcot-Marie-Tooth disease type 1C | Charcot-Marie-Tooth disease, Type 1C"
BMGC_DS05041,BMG_DS011235,Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth disease type 2 | Hereditary Motor and Sensory-Neuropathy Type II | hereditary sensory and autonomic neuropathy type 2
BMGC_DS05042,BMG_DS011237,Axonal neuropathy | Axonal neuropathy (disorder) | axonal neuropathy
BMGC_DS05043,BMG_DS011238,Demyelinating polyneuropathy | Peripheral demyelinating neuropathy | Peripheral demyelinating neuropathy (disorder) | demyelinating polyneuropathy
BMGC_DS05044,BMG_DS011244,Paraneoplastic Polyneuropathy | paraneoplastic polyneuropathy
BMGC_DS05045,BMG_DS011259,"Muscular Dystrophy, Oculopharyngeal | oculopharyngeal muscular dystrophy"
BMGC_DS05046,BMG_DS011264,Myotonia Congenita | Myotonia Levior | Thomsen and Becker disease
BMGC_DS05047,BMG_DS011265,Congenital myopathy | Congenital myopathy (disorder) | congenital myopathy
BMGC_DS05048,BMG_DS011267,Minicore disease | Multi-core congenital myopathy | Multi-core congenital myopathy (disorder) | Multi-core disease | Multi-minicore disease | Multicore disease | Multiminicore disease | multiminicore myopathy
BMGC_DS05049,BMG_DS011272,Limb-girdle muscular dystrophy type 2H | autosomal recessive limb-girdle muscular dystrophy type 2H
BMGC_DS05050,BMG_DS011273,Zebra body myopathy | Zebra body myopathy (disorder) | zebra body myopathy
BMGC_DS05051,BMG_DS011274,Reducing-body myopathy | Reducing-body myopathy (disorder) | reducing body myopathy
BMGC_DS05052,BMG_DS011276,Cornelia De Lange Syndrome | Cornelia de Lange syndrome | De Lange Syndrome
BMGC_DS05053,BMG_DS011293,Ocular siderosis | Siderosis of eye | Siderosis of eye (disorder) | ocular siderosis | siderosis of eye
BMGC_DS05054,BMG_DS011315,Macular edema | Macular oedema | Macular retinal edema | Macular retinal edema (disorder) | Macular retinal oedema | macular retinal edema
BMGC_DS05055,BMG_DS011330,Eales disease
BMGC_DS05056,BMG_DS011335,Partial occlusion of retinal vein | Partial occlusion of retinal vein (disorder) | partial of retinal vein occlusion | partial retinal vein occlusion
BMGC_DS05057,BMG_DS011337,dry age related macular degeneration
BMGC_DS05058,BMG_DS011338,Disciform macular degeneration | Disciform senile macular retinal degeneration | EMD - Exudative macular degeneration | Exudative age-related macular degeneration | Exudative age-related macular degeneration (disorder) | Exudative senile macular retinal degeneration | Junius-Kuhnt degeneration | Kuhnt-Junius degeneration | Kuhnt-Junius degeneration (disorder) | Neovascular age-related macular degeneration | Subretinal neovascularisation of macula | Subretinal neovascularization of macula | Wet senile macular degeneration | Wet senile macular retinal degeneration
BMGC_DS05059,BMG_DS011340,Toxic maculopathy | Toxic maculopathy (disorder) | toxic maculopathy
BMGC_DS05060,BMG_DS011344,"Retinoschisis | Retinoschisis, Juvenile, X-Linked"
BMGC_DS05061,BMG_DS011345,Progressive cone dystrophy (without rod involvement) | Progressive cone dystrophy (without rod involvement) (disorder) | Progressive retinal dystrophy: [cone (without rod involvement)] or [rod] | Progressive retinal dystrophy: [cone (without rod involvement)] or [rod] (disorder) | Progressive rod dystrophy
BMGC_DS05062,BMG_DS011346,Familial juvenile macular degeneration syndrome | Stargardt disease | Stargardt's disease | Stargardt's disease (disorder)
BMGC_DS05063,BMG_DS011348,Usher Syndrome | Usher Syndromes | Usher syndrome | Usher syndrome type 2 | Usher syndrome type 3
BMGC_DS05064,BMG_DS011349,Disorder of ciliary body | Disorder of ciliary body (disorder) | ciliary body disease | ciliary body disorder
BMGC_DS05065,BMG_DS011368,"pupillary membrane, persistence of"
BMGC_DS05066,BMG_DS011369,Occluded Pupils | Pupil Disorders
BMGC_DS05067,BMG_DS011377,"Glaucoma, Open-Angle | Secondary Open Angle Glaucoma"
BMGC_DS05068,BMG_DS011378,Secondary angle-closure glaucoma | Secondary angle-closure glaucoma (disorder)
BMGC_DS05069,BMG_DS011381,Aqueous humor misdirect | Aqueous humor misdirect (disorder) | Aqueous humour misdirect | Ciliary block glaucoma | Glaucoma fulminans | Malignant glaucoma | Malignant glaucoma (disorder)
BMGC_DS05070,BMG_DS011383,Aphakic glaucoma | Secondary glaucoma due to aphakia | Secondary glaucoma due to aphakia (disorder)
BMGC_DS05071,BMG_DS011389,Incipient cataract | Incipient cataract (disorder) | Water clefts | immature cataract
BMGC_DS05072,BMG_DS011391,nuclear senile cataract
BMGC_DS05073,BMG_DS011397,Irvine-Gass Syndrome | Macular Edema
BMGC_DS05074,BMG_DS011399,High myopia | Severe myopia | Severe myopia (disorder)
BMGC_DS05075,BMG_DS011403,"Diplopia | Diplopia, Unilateral"
BMGC_DS05076,BMG_DS011412,"Blindness | Blindness, Legal"
BMGC_DS05077,BMG_DS011428,Cogan syndrome | Cogan's syndrome | Cogan's syndrome (disorder) | Oculomotor apraxia | Oculomotor apraxia - Cogan type | Oculovestibuloauditory syndrome
BMGC_DS05078,BMG_DS011433,Krukenberg spindle | Krukenberg spindle (finding) | Posterior corneal pigmentation | Posterior corneal pigmentation (& [Krukenberg spindle]) | Posterior corneal pigmentation (& [Krukenberg spindle]) (disorder)
BMGC_DS05079,BMG_DS011440,Schnyder corneal dystrophy | Schnyder crystalline corneal dystrophy | Schnyder crystalline corneal dystrophy (disorder) | Schnyder's crystalline corneal dystrophy
BMGC_DS05080,BMG_DS011459,orbit lymphoma
BMGC_DS05081,BMG_DS011462,Glaucomatous atrophy of optic disc | Glaucomatous atrophy of optic disc (disorder) | Glaucomatous optic atrophy | Optic disc glaucomatous atrophy | glaucomatous atrophy of optic disc | glaucomatous atrophy of optic disk
BMGC_DS05082,BMG_DS011471,Oculomotor nerve disease | Oculomotor nerve disorder | Third cranial nerve disease | Third cranial nerve disease (disorder) | Third cranial nerve disorder | third cranial nerve disease | third cranial nerve disorder
BMGC_DS05083,BMG_DS011472,Abducens Nerve Diseases | abducens nerve disorder | abducens nerve palsy
BMGC_DS05084,BMG_DS011484,Oculomotor Nerve Diseases | Partial Third-Nerve Palsy | partial third-nerve palsy
BMGC_DS05085,BMG_DS011485,Oculomotor Nerve Diseases | Total Third-Nerve Palsy | total third-nerve palsy
BMGC_DS05086,BMG_DS011486,Brain Stem Infarctions | Claude Syndrome
BMGC_DS05087,BMG_DS011488,4th nerve palsy | Fourth cranial nerve palsy | Fourth cranial nerve paralysis | Fourth cranial nerve paresis | Fourth cranial nerve paresis (disorder) | Fourth nerve palsy | Fourth nerve palsy (disorder) | IV nerve palsy | Superior oblique palsy | Trochlear nerve palsy | Trochlear nerve paralysis | Trochlear nerve weakness | fourth cranial nerve palsy | trochlear nerve disease
BMGC_DS05088,BMG_DS011491,Convergence Insufficiency | Ocular Motility Disorders
BMGC_DS05089,BMG_DS011492,Convergence Excess | Ocular Motility Disorders
BMGC_DS05090,BMG_DS011493,"Nystagmus, Pathologic | Periodic Alternating Nystagmus"
BMGC_DS05091,BMG_DS011494,"Nystagmus, Pathologic | Symptomatic Nystagmus"
BMGC_DS05092,BMG_DS011495,"Nystagmus, Pathologic | Spontaneous Ocular Nystagmus | spontaneous ocular nystagmus"
BMGC_DS05093,BMG_DS011496,"Horizontal Nystagmus | Nystagmus, Pathologic"
BMGC_DS05094,BMG_DS011497,"Nystagmus, Pathologic | Vertical Nystagmus"
BMGC_DS05095,BMG_DS011498,"Nystagmus, Pathologic | Rebound Nystagmus"
BMGC_DS05096,BMG_DS011499,"Nystagmus, Pathologic | Pendular Nystagmus"
BMGC_DS05097,BMG_DS011500,"Jerk Nystagmus | Nystagmus, Pathologic"
BMGC_DS05098,BMG_DS011505,Ocular Motility Disorders | Paroxysmal Ocular Dyskinesia
BMGC_DS05099,BMG_DS011521,Disorder of middle ear | Disorder of middle ear (disorder) | Tubotympanic disease | middle ear disease | middle ear disorder
BMGC_DS05100,BMG_DS011522,Acute otitis media | Acute otitis media (disorder)
BMGC_DS05101,BMG_DS011525,Acute MEE - Acute middle ear effusion | Acute middle ear effusion | Acute transudative otitis media | Acute transudative otitis media (disorder) | acute transudative otitis media
BMGC_DS05102,BMG_DS011538,Non-suppurative otitis media | Non-suppurative otitis media (disorder) | non-suppurative otitis media
BMGC_DS05103,BMG_DS011544,"CSOM - Chronic suppurative otitis media | Chronic otitis media with effusion, purulent | Chronic otitis media with perforation | Chronic purulent otitis media | Chronic purulent otitis media (disorder) | Chronic secretory otitis media, purulent | Chronic suppurative otitis media | Otitis media with effusion - purulent | chronic purulent otitis media"
BMGC_DS05104,BMG_DS011551,polyp of middle ear
BMGC_DS05105,BMG_DS011611,Necrosis of pituitary | Necrosis of pituitary (disorder) | necrosis of pituitary
BMGC_DS05106,BMG_DS011614,GHD | Growth hormone deficiency | STH deficiency | Somatotropin deficiency | Somatotropin deficiency (disorder)
BMGC_DS05107,BMG_DS011618,"Isolated Growth Hormone Deficiency, Type II | isolated growth hormone deficiency type II"
BMGC_DS05108,BMG_DS011619,Laron Syndrome | Laron syndrome
BMGC_DS05109,BMG_DS011624,"Empty Sella Syndrome | Empty Sella Syndrome, Primary"
BMGC_DS05110,BMG_DS011625,Pituitary Dwarfism with Large Sella Turcica | pituitary dwarfism with large sella turcica
BMGC_DS05111,BMG_DS011627,Isolated gonadotrophin deficiency | Isolated gonadotropin deficiency | Isolated gonadotropin deficiency (disorder)
BMGC_DS05112,BMG_DS011628,Female hypogonadism | Female hypogonadism syndrome | Female hypogonadism syndrome (disorder)
BMGC_DS05113,BMG_DS011631,Fertile eunuch | Fertile eunuch syndrome | Isolated lutropin deficiency | Isolated lutropin deficiency (disorder) | hypogonadotropic hypogonadism 23 with or without anosmia
BMGC_DS05114,BMG_DS011632,"ACTH Deficiency, Isolated"
BMGC_DS05115,BMG_DS011634,"prolactin deficiency, isolated"
BMGC_DS05116,BMG_DS011655,Precocious female puberty | Precocious female puberty (disorder) | precocious puberty in female
BMGC_DS05117,BMG_DS011659,Gonadotrophin deficiency | Hypogonadotropic hypogonadism | Hypogonadotropic hypogonadism (disorder) | Hypopituitarism | Secondary hypogonadism | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type IB | isolated growth hormone deficiency type III
BMGC_DS05118,BMG_DS011672,Diabetes mellitus type 2 in obese | Diabetes mellitus type 2 in obese (disorder) | Type 2 diabetes mellitus in obese
BMGC_DS05119,BMG_DS011680,Chemical diabetes | IGT - Impaired glucose tolerance | Impaired glucose tolerance | Impaired glucose tolerance (disorder) | Latent diabetes | Prediabetic nonclinical diabetes | glucose intolerance
BMGC_DS05120,BMG_DS011700,Diabetic Neuropathies | Symmetric Diabetic Proximal Motor Neuropathy
BMGC_DS05121,BMG_DS011701,Asymmetric Diabetic Proximal Motor Neuropathy | Diabetic Neuropathies
BMGC_DS05122,BMG_DS011703,"Polyradiculopathy | Polyradiculopathy, Abdominal"
BMGC_DS05123,BMG_DS011704,Diabetic Mononeuropathy | Diabetic Neuropathies
BMGC_DS05124,BMG_DS011706,Diabetic Neuropathies | Diabetic Polyneuropathies | diabetic polyneuropathy
BMGC_DS05125,BMG_DS011709,"Polyneuropathies | Polyneuropathy, Motor | motor peripheral neuropathy"
BMGC_DS05126,BMG_DS011711,Diabetic Amyotrophy | Diabetic Neuropathies
BMGC_DS05127,BMG_DS011712,Diabetic Autonomic Neuropathy | Diabetic Neuropathies | diabetic autonomic neuropathy
BMGC_DS05128,BMG_DS011719,Acquired generalised lipodystrophy | Acquired generalized lipodystrophy | Acquired generalized lipodystrophy (disorder) | Acquired lipodystrophic diabetes | Acquired total lipoatrophy | Lawrence syndrome | acquired generalized lipodystrophy
BMGC_DS05129,BMG_DS011720,Familial lipodystrophy of limbs AND/OR trunk | Familial partial lipodystrophy | Familial partial lipodystrophy (disorder) | familial partial lipodystrophy
BMGC_DS05130,BMG_DS011721,Donohue Syndrome | Donohue syndrome | Rabson-Mendenhall Syndrome | Rabson-Mendenhall syndrome
BMGC_DS05131,BMG_DS011731,Fasting Hypoglycemia | Hypoglycemia
BMGC_DS05132,BMG_DS011737,"Hypoglycemia, leucine-induced | hypoglycemia, leucine-induced"
BMGC_DS05133,BMG_DS011759,Achalasia-addisonian syndrome | Alacrimia-achalasia-addisonianism | Allgrove syndrome | Glucocorticoid deficiency with achalasia | Glucocorticoid deficiency with achalasia (disorder) | Triple A syndrome | triple-A syndrome
BMGC_DS05134,BMG_DS011773,Lingual Goiter | lingual goiter
BMGC_DS05135,BMG_DS011793,isolated thyroid-stimulating hormone deficiency
BMGC_DS05136,BMG_DS011804,Central hypothyroidism | Central hypothyroidism (disorder)
BMGC_DS05137,BMG_DS011827,GDTH IIB | Genetic defect in thyroid hormonogenesis II B | Goiter-deafness syndrome | Goitre-deafness syndrome | Hypothyroidism with sensorineural deafness | Pendred Syndrome | Pendred syndrome | Pendred's syndrome | Pendred's syndrome (disorder) | Permanent congenital hypothyroidism with diffuse goitre | Thyroid hormone organification defect II B
BMGC_DS05138,BMG_DS011831,X-linked reduction of thyroxine-binding globulin | X-linked reduction of thyroxine-binding globulin (disorder)
BMGC_DS05139,BMG_DS011841,Familial hyperparathyroidism | Familial hyperparathyroidism (disorder) | Familial primary hyperparathyroidism | Familial primary hyperparathyroidism (disorder) | familial primary hyperparathyroidism | primary hyperparathyroidism
BMGC_DS05140,BMG_DS011842,Hyperparathyroidism due to renal insufficiency | Hyperparathyroidism due to renal insufficiency (disorder) | Secondary hyperparathyroidism of renal origin | secondary hyperparathyroidism of renal origin
BMGC_DS05141,BMG_DS011847,Hypercalcaemia due to hyperthyroidism | Hypercalcemia due to hyperthyroidism | Hypercalcemia due to hyperthyroidism (disorder)
BMGC_DS05142,BMG_DS011873,Hypothalamic Diseases | Hypothalamic Pseudopuberty
BMGC_DS05143,BMG_DS011885,Microcytic normochromic anaemia | Microcytic normochromic anemia | Microcytic normochromic anemia (disorder)
BMGC_DS05144,BMG_DS011892,Anaemia: [aplastic due to drugs] or [hypoplastic due to drug or chemical substance] | Anaemia: [aplastic due to drugs] or [hypoplastic due to drug or chemical substance] (disorder) | Anemia: [aplastic due to drugs] or [hypoplastic due to drug or chemical substance] | Aplastic anaemia due to drugs | Aplastic anemia due to drugs | Aplastic anemia due to drugs (disorder) | Drug induced aplastic anaemia | Drug induced aplastic anemia | Hypoplastic anaemia due to drug or chemical substance | Hypoplastic anemia due to drug or chemical substance
BMGC_DS05145,BMG_DS011914,Anaemia of chronic renal failure | Anaemia of chronic renal insufficiency | Anemia of chronic renal failure | Anemia of chronic renal failure (disorder) | Anemia of chronic renal insufficiency
BMGC_DS05146,BMG_DS011915,"Congenital dyserythropoietic anaemia type I | Congenital dyserythropoietic anaemia, type I | Congenital dyserythropoietic anemia type I | Congenital dyserythropoietic anemia, type I | Congenital dyserythropoietic anemia, type I (disorder) | congenital dyserythropoietic anemia type 1 | congenital dyserythropoietic anemia type Ib"
BMGC_DS05147,BMG_DS011916,"Congenital dyserythropoietic anaemia type III | Congenital dyserythropoietic anaemia, type III | Congenital dyserythropoietic anemia type III | Congenital dyserythropoietic anemia, type III | Congenital dyserythropoietic anemia, type III (disorder) | congenital dyserythropoietic anemia type IIIa"
BMGC_DS05148,BMG_DS011950,Thiamine-responsive megaloblastic anaemia | Thiamine-responsive megaloblastic anemia | Thiamine-responsive megaloblastic anemia (disorder)
BMGC_DS05149,BMG_DS011955,Thalassemia Intermedia | beta-Thalassemia
BMGC_DS05150,BMG_DS011956,Beta 0 thalassaemia | Beta 0 thalassemia | Beta zero thalassaemia | Beta zero thalassemia | Beta zero thalassemia (disorder) | beta zero thalassaemia | beta zero thalassemia
BMGC_DS05151,BMG_DS011961,Delta-Beta Thalassemia | delta-beta-thalassemia
BMGC_DS05152,BMG_DS011966,delta-Thalassemia
BMGC_DS05153,BMG_DS011967,Delta 0 thalassaemia | Delta 0 thalassemia | Delta zero thalassaemia | Delta zero thalassemia | Delta zero thalassemia (disorder)
BMGC_DS05154,BMG_DS011970,HPFH (hereditary persistence of fetal haemoglobin) beta-thalassaemia syndrome | HPFH (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome | Hereditary persistence of fetal haemoglobin thalassaemia | Hereditary persistence of fetal hemoglobin thalassemia | Hereditary persistence of fetal hemoglobin thalassemia (disorder) | Hereditary persistence of foetal haemoglobin thalassaemia | hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
BMGC_DS05155,BMG_DS011981,Alpha thalassaemia major | Alpha thalassemia major | Haemoglobin Bart hydrops syndrome | Haemoglobin Bart's disease | Haemoglobin Bart's hydrops syndrome | Haemoglobin Barts hydrops | Hb Bart's hydrops fetalis | Hemoglobin Bart hydrops syndrome | Hemoglobin Bart's disease | Hemoglobin Bart's hydrops syndrome | Hemoglobin Bart's hydrops syndrome (disorder) | Hemoglobin Barts hydrops
BMGC_DS05156,BMG_DS012021,Dessicocytosis | Xerocytosis | Xerocytosis (disorder) | dehydrated hereditary stomatocytosis
BMGC_DS05157,BMG_DS012022,Rh Deficiency Syndrome | Rh deficiency syndrome
BMGC_DS05158,BMG_DS012023,Anaemia due to enzyme deficiency | Anemia due to enzyme deficiency | Anemia due to enzyme deficiency (disorder)
BMGC_DS05159,BMG_DS012025,G-6-PD class I variant anaemia | G-6-PD class I variant anemia | Glucose-6-phosphate dehydrogenase deficiency class I variant anaemia | Glucose-6-phosphate dehydrogenase deficiency class I variant anemia | Glucose-6-phosphate dehydrogenase deficiency class I variant anemia (disorder)
BMGC_DS05160,BMG_DS012033,HNSHA due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic haemolytic anaemia due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder)
BMGC_DS05161,BMG_DS012035,Glycogen Storage Disease XII | glycogen storage disease due to aldolase A deficiency
BMGC_DS05162,BMG_DS012038,HNSHA due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder)
BMGC_DS05163,BMG_DS012048,Haemoglobin D disease | Haemoglobin D-D disease | Hemoglobin D disease | Hemoglobin D disease (disorder) | Hemoglobin D-D disease | hemoglobin D disease
BMGC_DS05164,BMG_DS012052,sickle cell-hemoglobin d disease syndrome
BMGC_DS05165,BMG_DS012054,Congenital Methemoglobinemia | hereditary methemoglobinemia
BMGC_DS05166,BMG_DS012092,Evans syndrome | Evans syndrome (disorder) | Evans' syndrome
BMGC_DS05167,BMG_DS012103,Tn Syndrome | Tn polyagglutination syndrome
BMGC_DS05168,BMG_DS012110,Erythrocytosis due to tissue hypoxaemia | Erythrocytosis due to tissue hypoxemia | Erythrocytosis due to tissue hypoxemia (disorder)
BMGC_DS05169,BMG_DS012118,Neonatal polycythaemia | Neonatal polycythemia | Neonatal polycythemia (disorder) | Plethora of newborn | Polycythaemia neonatorum | Polycythemia neonatorum | plethora of newborn | polycythemia neonatorum
BMGC_DS05170,BMG_DS012129,"Congenital aleukia | De Vaal disease | Generalised haematopoietic hypoplasia | Generalized hematopoietic hypoplasia | Immunoerythromyeloid hypoplasia | Reticular dysgenesia | Reticular dysgenesis | Reticular dysgenesis (disorder) | SCID - Severe combined immunodeficiency, neutropaenia and thrombocytopaenia | SCID - Severe combined immunodeficiency, neutropenia and thrombocytopenia | Severe combined immunodeficiency, neutropaenia and thrombocytopaenia | Severe combined immunodeficiency, neutropenia and thrombocytopenia | reticular dysgenesis"
BMGC_DS05171,BMG_DS012132,"Congenital lipomatosis of pancreas | Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia | Metaphyseal chondrodysplasia, Shwachman type | Metaphyseal dysplasia with malabsorption and neutropenia | Schwachman's syndrome | Schwachman-Bodian syndrome | Schwachman-Diamond syndrome | Schwachmann-Diamond syndrome | Shwachman syndrome | Shwachman syndrome (disorder) | Shwachman's syndrome | Shwachman-Diamond syndrome"
BMGC_DS05172,BMG_DS012136,"Lazy Leukocyte Syndrome | periodic fever, immunodeficiency, and thrombocytopenia syndrome"
BMGC_DS05173,BMG_DS012138,Alloimmune neonatal neutropenia | Alloimmune neonatal neutropenia (disorder) | Isoimmune neonatal neutropenia | Neonatal isoimmune neutropenia | neonatal alloimmune neutropenia
BMGC_DS05174,BMG_DS012140,Drug induced neutropenia | Drug-associated agranulocytosis | Drug-induced neutropenia | Drug-induced neutropenia (disorder) | Idiosyncratic neutropenia
BMGC_DS05175,BMG_DS012147,Congenital leucocyte adherence deficiency | Congenital leukocyte adherence deficiency | Congenital leukocyte adherence deficiency (disorder) | Leucocyte adhesion deficiency | Leukocyte adhesion deficiency | leukocyte adhesion deficiency
BMGC_DS05176,BMG_DS012151,"Familial eosinophilia | Familial eosinophilia (disorder) | eosinophilia, familial"
BMGC_DS05177,BMG_DS012158,"Familial Hemophagocytic Lymphocytosis | Lymphohistiocytosis, Hemophagocytic | hereditary hemophagocytic lymphohistiocytosis"
BMGC_DS05178,BMG_DS012160,extracutaneous mastocytoma
BMGC_DS05179,BMG_DS012161,indolent systemic mastocytosis
BMGC_DS05180,BMG_DS012184,SCID (severe combined immunodeficiency) due to absent ADA (adenosine deaminase) | SCID (severe combined immunodeficiency) due to absent adenosine deaminase | Severe combined immunodeficiency due to absent adenosine deaminase | Severe combined immunodeficiency due to absent adenosine deaminase (disorder)
BMGC_DS05181,BMG_DS012189,Hyper IgM syndrome | Hyperimmunoglobulin M syndrome | Hyperimmunoglobulin M syndrome (disorder) | Immunodeficiency with IgM hypergammaglobulinaemia | Immunodeficiency with IgM hypergammaglobulinemia | hyper IgM syndrome | hyper-IgM syndrome
BMGC_DS05182,BMG_DS012190,Immunoglobulin maturational delay | THI - Transient hypogammaglobulinaemia of infancy | THI - Transient hypogammaglobulinemia of infancy | Transient hypogammaglobulinaemia of infancy | Transient hypogammaglobulinemia of infancy | Transient hypogammaglobulinemia of infancy (disorder) | transient hypogammaglobulinemia of infancy
BMGC_DS05183,BMG_DS012193,Complement Deficiencies | Hereditary Complement Deficiency Diseases | complement deficiency
BMGC_DS05184,BMG_DS012204,solitary osseous plasmacytoma
BMGC_DS05185,BMG_DS012231,Heparin induced thrombocytopaenia | Heparin induced thrombocytopenia | Heparin-induced thrombocytopenia | Heparin-induced thrombocytopenia (disorder) | heparin-induced thrombocytopenia
BMGC_DS05186,BMG_DS012232,ITP - immune thrombocytopenia | Immune thrombocytopenia | Immune thrombocytopenia (disorder) | Thrombocytopenia due to immune destruction | Thrombocytopenia due to platelet alloimmunization | thrombocytopenia due to immune destruction | thrombocytopenia due to platelet alloimmunization
BMGC_DS05187,BMG_DS012237,Autoimmune thrombocytopenic purpura | Chronic idiopathic thrombocytopenic purpura | Chronic idiopathic thrombocytopenic purpura (disorder) | Chronic thrombocytopenic purpura | Purpura haemorrhagica | Purpura hemorrhagica | Werlhof's disease
BMGC_DS05188,BMG_DS012245,Gray Platelet Syndrome | gray platelet syndrome | platelet-type bleeding disorder 17
BMGC_DS05189,BMG_DS012256,Blood clotting factor deficiency disorder | Coagulation factor deficiency syndrome | Coagulation factor deficiency syndrome (disorder) | Coagulation factor disorder
BMGC_DS05190,BMG_DS012258,Hereditary factor II deficiency disease | Hereditary factor II deficiency disease (disorder) | Hereditary hypoprothrombinaemia | Hereditary hypoprothrombinemia | congenital prothrombin deficiency | prothrombin deficiency
BMGC_DS05191,BMG_DS012261,Hereditary factor VII deficiency disease | Hereditary factor VII deficiency disease (disorder) | Hereditary factor VII deficiency syndrome | Hereditary hypoproconvertinaemia | Hereditary hypoproconvertinemia | congenital factor VII deficiency
BMGC_DS05192,BMG_DS012263,Severe haemophilia A | Severe hemophilia A | Severe hereditary factor VIII deficiency disease | Severe hereditary factor VIII deficiency disease (disorder) | severe hemophilia A
BMGC_DS05193,BMG_DS012264,Moderate haemophilia A | Moderate hemophilia A | Moderate hereditary factor VIII deficiency disease | Moderate hereditary factor VIII deficiency disease (disorder) | moderately severe hemophilia A
BMGC_DS05194,BMG_DS012265,Mild haemophilia A | Mild hemophilia A | Mild hereditary factor VIII deficiency disease | Mild hereditary factor VIII deficiency disease (disorder) | mild hemophilia A
BMGC_DS05195,BMG_DS012266,"Factor 8 deficiency, acquired | acquired hemophilia A"
BMGC_DS05196,BMG_DS012267,Hereditary Stuart factor deficiency disease | Hereditary Stuart-Prower deficiency disease | Hereditary factor X deficiency disease | Hereditary factor X deficiency disease (disorder) | congenital factor X deficiency
BMGC_DS05197,BMG_DS012276,Fletcher factor deficiency | Fletcher trait | Prekallikrein deficiency | Prekallikrein deficiency (disorder) | prekallikrein deficiency
BMGC_DS05198,BMG_DS012277,Fitzgerald factor deficiency | Fitzgerald-Flaujeac-Williams-Reid trait | High molecular weight kininogen deficiency | High molecular weight kininogen deficiency (disorder) | congenital high-molecular-weight kininogen deficiency | high molecular weight kininogen deficiency
BMGC_DS05199,BMG_DS012286,"Dysfibrinogenemia, Congenital | familial dysfibrinogenemia"
BMGC_DS05200,BMG_DS012294,Acquired von Willebrand disease | Acquired von Willebrand disease (disorder) | Acquired von Willebrand syndrome | Acquired von Willebrand syndrome (disorder) | Acquired von Willebrand's disease | acquired von Willebrand syndrome | acquired von willebrand syndrome
BMGC_DS05201,BMG_DS012303,Drug-induced coagulation inhibitor disorder | Drug-induced coagulation inhibitor disorder (disorder)
BMGC_DS05202,BMG_DS012305,Antithrombin III Deficiency | antithrombin III deficiency | hereditary antithrombin deficiency
BMGC_DS05203,BMG_DS012318,Disorder of lymph node | Disorder of lymph node (disorder) | lymph node disease | lymph node disorder
BMGC_DS05204,BMG_DS012329,Non-traumatic rupture of spleen | Nontraumatic splenic rupture | Nontraumatic splenic rupture (disorder) | Spontaneous rupture of spleen
BMGC_DS05205,BMG_DS012332,Abscess of spleen | Spleen abscess | Splenic abscess | Splenic abscess (disorder) | splenic abscess
BMGC_DS05206,BMG_DS012428,Acute infection | Acute infectious disease | Acute infectious disease (disorder)
BMGC_DS05207,BMG_DS012449,Acute bacterial peritonitis | Acute bacterial peritonitis (disorder)
BMGC_DS05208,BMG_DS012454,Acute bacterial epiglottitis | Acute bacterial epiglottitis (disorder)
BMGC_DS05209,BMG_DS012455,Acute bacterial sinusitis | Acute bacterial sinusitis (disorder)
BMGC_DS05210,BMG_DS012458,Pulmonary actinomycosis | Pulmonary actinomycosis (disorder) | Thoracic actinomycosis
BMGC_DS05211,BMG_DS012468,Nocardia Infections | Nocardia asteroides Infection
BMGC_DS05212,BMG_DS012471,Nocardia Infections | Pulmonary Nocardiosis
BMGC_DS05213,BMG_DS012522,Acute gonococcal urethritis | Acute inflammation of urethra caused by Neisseria gonorrhoeae | Acute inflammation of urethra caused by Neisseria gonorrhoeae (disorder)
BMGC_DS05214,BMG_DS012524,Acute gonococcal salpingitis | Acute gonococcal salpingitis (disorder) | acute gonococcal salpingitis
BMGC_DS05215,BMG_DS012532,Gonorrhea of rectum | Gonorrhoea of rectum | Infection of rectum caused by Neisseria gonorrhoeae | Infection of rectum caused by Neisseria gonorrhoeae (disorder) | Rectal gonorrhea | Rectal gonorrhoea
BMGC_DS05216,BMG_DS012598,Bordetella parapertussis infection | Bordetella parapertussis infectious disease | Bordetella parapertussis whooping cough | Infection caused by Bordetella parapertussis | Infection caused by Bordetella parapertussis (disorder) | Infection due to Bordetella parapertussis (disorder)
BMGC_DS05217,BMG_DS012611,Pneumococcal pharyngitis | Pneumococcal pharyngitis (disorder)
BMGC_DS05218,BMG_DS012627,Lyme carditis | Lyme carditis (disorder)
BMGC_DS05219,BMG_DS012637,Staphylococcal tonsillitis | Staphylococcal tonsillitis (disorder)
BMGC_DS05220,BMG_DS012638,Staphylococcal pharyngitis | Staphylococcal pharyngitis (disorder)
BMGC_DS05221,BMG_DS012647,Streptococcal tonsillitis | Streptococcal tonsillitis (disorder)
BMGC_DS05222,BMG_DS012682,"Early latent syphilis, positive serology, negative cerebrospinal fluid, less than 2 years after infection | Early latent syphilis, positive serology, negative cerebrospinal fluid, less than 2 years after infection (disorder) | latent early syphilis"
BMGC_DS05223,BMG_DS012784,Acute tuberculosis | Acute tuberculosis (disorder)
BMGC_DS05224,BMG_DS012800,Campylobacter fetus infectious disease | Infection by Campylobacter fetus | Infection by Vibrio fetus | Infection caused by Campylobacter fetus | Infection caused by Campylobacter fetus (disorder) | Infection caused by Vibrio fetus
BMGC_DS05225,BMG_DS012803,Campylobacter diarrhea | Campylobacter diarrhoea | Campylobacter intestinal infection | Enteric campylobacteriosis | Enteric campylobacteriosis (disorder)
BMGC_DS05226,BMG_DS012809,Chancre of yaws | Initial frambesia | Initial framboesia | Initial lesion of yaws | Initial lesion of yaws (disorder) | Initial yaws lesion | Mother yaw | Primary frambesia | Primary framboesia | Primary stage of yaws | Yaws chancre | early yaws
BMGC_DS05227,BMG_DS012813,Early yaws | Early yaws (disorder) | early yaws
BMGC_DS05228,BMG_DS012819,Yaws gummata and ulcers | Yaws gummata and ulcers (disorder) | late yaws
BMGC_DS05229,BMG_DS012836,Haemophilus influenzae pneumonia | Haemophilus influenzae pneumonia (disorder)
BMGC_DS05230,BMG_DS012837,Haemophilus influenzae otitis media | Haemophilus influenzae otitis media (disorder)
BMGC_DS05231,BMG_DS012867,Sepsis caused by Bacteroides | Sepsis caused by Bacteroides (disorder) | Septicaemia caused by Bacteroides | Septicemia caused by Bacteroides
BMGC_DS05232,BMG_DS012873,Infection caused by Pseudomonas aeruginosa | Infection caused by Pseudomonas aeruginosa (disorder) | Pseudomonas aeruginosa infectious disease
BMGC_DS05233,BMG_DS012875,Malignant otitis media | Malignant otitis media (disorder) | Otitis media due to Pseudomonas aeruginosa
BMGC_DS05234,BMG_DS012881,Ecthyma gangrenosum | Ecthyma gangrenosum (disorder)
BMGC_DS05235,BMG_DS012883,E. coli septicaemia | E. coli septicemia | Escherichia coli septicaemia | Escherichia coli septicemia | Septicaemia due to E. Coli | Septicaemia due to Escherichia coli | Septicaemic colibacillosis | Septicemia due to E. Coli | Septicemia due to Escherichia coli | Septicemia due to Escherichia coli (disorder) | Septicemic colibacillosis
BMGC_DS05236,BMG_DS012884,Escherichia coli pneumonia | Pneumonia caused by E. coli | Pneumonia caused by Escherichia coli | Pneumonia caused by Escherichia coli (disorder)
BMGC_DS05237,BMG_DS012923,Viral myocarditis | Viral myocarditis (disorder) | viral myocarditis
BMGC_DS05238,BMG_DS012960,Monkey pox | Monkeypox | Monkeypox (disorder) | Mpox | monkeypox | mpox
BMGC_DS05239,BMG_DS012997,Recurrent herpes simplex | Recurrent herpes simplex (disorder)
BMGC_DS05240,BMG_DS013000,Encephalitis caused by Herpesviridae | Encephalitis caused by Herpesvirus | Encephalitis caused by Herpesvirus (disorder) | HSE - Herpes simplex encephalitis | Herpes encephalitis | Herpes encephalitis (disorder) | Herpes simplex encephalitis | Herpetic encephalitis | Herpetic meningoencephalitis | herpes simplex encephalitis
BMGC_DS05241,BMG_DS013002,HSV keratoconjunctivitis | Herpes simplex keratoconjunctivitis | Herpes simplex keratoconjunctivitis (disorder)
BMGC_DS05242,BMG_DS013030,Flat wart | Plane wart | Plane wart (disorder) | Verruca plana | Verruca plana (disorder) | Verruca plana (morphologic abnormality)
BMGC_DS05243,BMG_DS013052,Zika Virus Infection | Zika fever | Zika virus infectious disease
BMGC_DS05244,BMG_DS013106,"Influenza caused by Influenza B virus | Influenza caused by Influenza B virus (disorder) | Influenza due to Influenza virus, type B"
BMGC_DS05245,BMG_DS013213,familial Alzheimer disease
BMGC_DS05246,BMG_DS013215,Human immunodeficiency virus 1 infection | Human immunodeficiency virus I infection | Human immunodeficiency virus I infection (disorder)
BMGC_DS05247,BMG_DS013266,Nutritional deficiency with AIDS (acquired immunodeficiency syndrome) | Nutritional deficiency with acquired immunodeficiency syndrome | Nutritional deficiency with acquired immunodeficiency syndrome (disorder)
BMGC_DS05248,BMG_DS013285,"Chronic hepatitis B, unspecified | Chronic viral hepatitis B without delta-agent | Chronic viral hepatitis B without delta-agent (disorder)"
BMGC_DS05249,BMG_DS013317,Fungal endocarditis | Mycotic endocarditis | Mycotic endocarditis (disorder) | mycotic endocarditis
BMGC_DS05250,BMG_DS013322,Invasive Pulmonary Aspergillosis
BMGC_DS05251,BMG_DS013333,Disseminated coccidioidomycosis | Disseminated coccidioidomycosis (disorder) | Extra-pulmonary coccidioidomycosis
BMGC_DS05252,BMG_DS013345,Neonatal candida infection | Neonatal candidiasis | Neonatal candidiasis (disorder) | Neonatal candidosis | Neonatal monilia | Neonatal monilia infection | Neonatal monilia infection (disorder) | Neonatal moniliasis | Neonatal thrush | neonatal candidiasis
BMGC_DS05253,BMG_DS013349,Pulmonary cryptococcosis | Pulmonary cryptococcosis (disorder)
BMGC_DS05254,BMG_DS013384,Disseminated sporotrichosis | Disseminated sporotrichosis (disorder) | disseminated sporotrichosis
BMGC_DS05255,BMG_DS013386,Lymphocutaneous sporotrichosis | Lymphocutaneous sporotrichosis (disorder)
BMGC_DS05256,BMG_DS013401,Kerion | Kerion celsi | Suppurative dermatophytosis | Suppurative ringworm | Tinea kerion | Tinea kerion (disorder)
BMGC_DS05257,BMG_DS013413,Onychomycosis caused by Trichophyton rubrum | Onychomycosis caused by Trichophyton rubrum (disorder)
BMGC_DS05258,BMG_DS013414,Onychomycosis caused by Trichophyton mentagrophytes | Onychomycosis caused by Trichophyton mentagrophytes (disorder)
BMGC_DS05259,BMG_DS013417,Fusariosis | fusariosis
BMGC_DS05260,BMG_DS013471,Meningoencephalitis caused by Naegleria | Meningoencephalitis caused by Naegleria (disorder)
BMGC_DS05261,BMG_DS013556,Bladder schistosomiasis | Schistosoma haematobium infection | Schistosoma haematobium infection (disorder) | Schistosoma hematobium infection | Schistosomiasis of bladder | Vesical schistosomiasis | urinary schistosomiasis
BMGC_DS05262,BMG_DS013562,Infection by Schistosoma intercalatum | Infection caused by Schistosoma intercalatum | Infection caused by Schistosoma intercalatum (disorder) | Schistosoma intercalatum infectious disease | intestinal schistosomiasis
BMGC_DS05263,BMG_DS013625,Opisthorchiasis | Opisthorchis felineus Infection
BMGC_DS05264,BMG_DS013626,Opisthorchiasis | Opisthorchis viverrini Infection
BMGC_DS05265,BMG_DS013736,Angiostrongylus cantonensis infection | Infection by Angiostrongylus cantonensis | Infection caused by Angiostrongylus cantonensis | Infection caused by Angiostrongylus cantonensis (disorder) | angiostrongyliasis
BMGC_DS05266,BMG_DS013753,Infection by Baylisascaris | Infection caused by Baylisascaris | Infection caused by Baylisascaris (disorder) | baylisascariasis
BMGC_DS05267,BMG_DS013922,Infection by Moniliformis | Infection caused by Moniliformis | Infection caused by Moniliformis (disorder) | Moniliformiosis
BMGC_DS05268,BMG_DS013942,Flea Infestation | Flea Infestations
BMGC_DS05269,BMG_DS014094,Infectious colitis | Infectious colitis (disorder) | Infective colitis | Septic colitis | infectious colitis
BMGC_DS05270,BMG_DS014095,Gastric flu | Infectious gastroenteritis | Infectious gastroenteritis (disorder) | Septic gastroenteritis
BMGC_DS05271,BMG_DS014098,Traveler's diarrhea | Traveler's diarrhea (disorder) | Traveler's diarrhoea | Turista
BMGC_DS05272,BMG_DS014143,"Hemiplegia | Hemiplegia, Crossed | alternating hemiplegia"
BMGC_DS05273,BMG_DS014153,facial spasm
BMGC_DS05274,BMG_DS014164,"Epilepsy, Reflex | Reflex Epilepsy, Reading | reading seizures"
BMGC_DS05275,BMG_DS014168,"Epilepsy, Reflex | Reflex Epilepsy, Musicogenic"
BMGC_DS05276,BMG_DS014176,childhood medulloblastoma
BMGC_DS05277,BMG_DS014177,localized osteosarcoma
BMGC_DS05278,BMG_DS014178,childhood cerebellar astrocytic neoplasm
BMGC_DS05279,BMG_DS014179,adult fibrosarcoma
BMGC_DS05280,BMG_DS014180,childhood infratentorial ependymoma | pediatric infratentorial ependymoma
BMGC_DS05281,BMG_DS014181,childhood brain stem glioma
BMGC_DS05282,BMG_DS014182,inflammatory breast carcinoma
BMGC_DS05283,BMG_DS014183,adult liposarcoma
BMGC_DS05284,BMG_DS014184,extramedullary plasmacytoma
BMGC_DS05285,BMG_DS014185,refractory plasma cell neoplasm
BMGC_DS05286,BMG_DS014186,adult malignant schwannoma
BMGC_DS05287,BMG_DS014187,childhood supratentorial ependymoma | pediatric supratentorial ependymoma
BMGC_DS05288,BMG_DS014188,childhood optic nerve glioma
BMGC_DS05289,BMG_DS014189,gastric adenocarcinoma
BMGC_DS05290,BMG_DS014191,intraocular retinoblastoma
BMGC_DS05291,BMG_DS014192,extraocular retinoblastoma
BMGC_DS05292,BMG_DS014193,malignant mesothelioma
BMGC_DS05293,BMG_DS014194,central nervous system childhood germ cell tumor | childhood central nervous system germ cell tumor
BMGC_DS05294,BMG_DS014195,gestational trophoblastic neoplasm
BMGC_DS05295,BMG_DS014196,small intestine adenocarcinoma
BMGC_DS05296,BMG_DS014197,duodenal adenocarcinoma | duodenum adenocarcinoma
BMGC_DS05297,BMG_DS014198,small intestine lymphoma
BMGC_DS05298,BMG_DS014199,gallbladder cancer
BMGC_DS05299,BMG_DS014200,invasive malignant thymoma
BMGC_DS05300,BMG_DS014201,noninvasive malignant thymoma
BMGC_DS05301,BMG_DS014204,growth hormone-producing pituitary gland adenoma | hormone producing pituitary cancer
BMGC_DS05302,BMG_DS014205,posterior uveal melanoma | small size posterior uveal melanoma
BMGC_DS05303,BMG_DS014206,medium/large size posterior uveal melanoma | posterior uveal melanoma
BMGC_DS05304,BMG_DS014208,adult brain stem glioma | adult brainstem glioma
BMGC_DS05305,BMG_DS014209,adult medulloblastoma
BMGC_DS05306,BMG_DS014210,adult glioblastoma | glioblastoma
BMGC_DS05307,BMG_DS014211,metastatic melanoma
BMGC_DS05308,BMG_DS014212,adult extraosseous osteosarcoma | adult extraskeletal osteosarcoma
BMGC_DS05309,BMG_DS014213,head and neck cancer
BMGC_DS05310,BMG_DS014214,carcinoma of liver and intrahepatic biliary tract | liver carcinoma
BMGC_DS05311,BMG_DS014215,childhood germ cell cancer | childhood germ cell tumor
BMGC_DS05312,BMG_DS014216,grade I lymphomatoid granulomatosis
BMGC_DS05313,BMG_DS014218,adult oligodendroglioma
BMGC_DS05314,BMG_DS014220,ovarian seromucinous carcinoma
BMGC_DS05315,BMG_DS014222,"chronic myelogenous leukemia, BCR-ABL1 positive"
BMGC_DS05316,BMG_DS014223,alveolar soft part sarcoma
BMGC_DS05317,BMG_DS014224,adult epithelioid sarcoma
BMGC_DS05318,BMG_DS014225,adult malignant hemangiopericytoma
BMGC_DS05319,BMG_DS014226,adult malignant mesenchymoma
BMGC_DS05320,BMG_DS014227,adenosquamous lung carcinoma
BMGC_DS05321,BMG_DS014229,invasive lobular breast carcinoma
BMGC_DS05322,BMG_DS014232,T-cell adult acute lymphocytic leukemia
BMGC_DS05323,BMG_DS014234,fibrosarcomatous osteosarcoma
BMGC_DS05324,BMG_DS014235,chondroblastic osteosarcoma
BMGC_DS05325,BMG_DS014236,pediatric hepatocellular carcinoma
BMGC_DS05326,BMG_DS014237,adult hepatocellular carcinoma
BMGC_DS05327,BMG_DS014238,epithelial predominant Wilms' tumor
BMGC_DS05328,BMG_DS014239,blastema predominant kidney Wilms tumor | blastema predominant kidney Wilms' tumor
BMGC_DS05329,BMG_DS014240,stromal predominant kidney Wilms tumor | stromal predominant kidney Wilms' tumor
BMGC_DS05330,BMG_DS014241,mixed cell type kidney Wilms' tumor
BMGC_DS05331,BMG_DS014242,alveolar rhabdomyosarcoma
BMGC_DS05332,BMG_DS014243,childhood pleomorphic rhabdomyosarcoma
BMGC_DS05333,BMG_DS014244,small cell osteogenic sarcoma
BMGC_DS05334,BMG_DS014245,esophageal squamous cell carcinoma | esophagus squamous cell carcinoma
BMGC_DS05335,BMG_DS014246,esophageal adenocarcinoma | esophagus adenocarcinoma
BMGC_DS05336,BMG_DS014248,diffuse gastric adenocarcinoma | gastric diffuse adenocarcinoma
BMGC_DS05337,BMG_DS014249,anal carcinoma
BMGC_DS05338,BMG_DS014250,colon mucinous adenocarcinoma
BMGC_DS05339,BMG_DS014252,gallbladder adenocarcinoma
BMGC_DS05340,BMG_DS014253,rectum mucinous adenocarcinoma
BMGC_DS05341,BMG_DS014255,rectal signet ring cell adenocarcinoma | rectum signet ring adenocarcinoma
BMGC_DS05342,BMG_DS014256,gallbladder squamous cell carcinoma
BMGC_DS05343,BMG_DS014257,extrahepatic bile duct adenocarcinoma
BMGC_DS05344,BMG_DS014258,pancreatic acinar cell adenocarcinoma | pancreatic acinar cell carcinoma
BMGC_DS05345,BMG_DS014259,ovarian serous cystadenocarcinoma
BMGC_DS05346,BMG_DS014260,ovarian mucinous cystadenocarcinoma
BMGC_DS05347,BMG_DS014261,ovarian clear cell cystadenocarcinoma
BMGC_DS05348,BMG_DS014263,cervical squamous cell carcinoma
BMGC_DS05349,BMG_DS014264,cervical adenocarcinoma
BMGC_DS05350,BMG_DS014265,cervical small cell carcinoma | cervix small cell carcinoma
BMGC_DS05351,BMG_DS014266,bladder transitional cell carcinoma | bladder urothelial carcinoma
BMGC_DS05352,BMG_DS014267,bladder squamous cell carcinoma
BMGC_DS05353,BMG_DS014268,bladder adenocarcinoma
BMGC_DS05354,BMG_DS014270,intermediate cell type uveal melanoma | intraocular mixed cell type melanoma
BMGC_DS05355,BMG_DS014271,necrotic uveal melanoma
BMGC_DS05356,BMG_DS014272,salivary gland squamous cell carcinoma
BMGC_DS05357,BMG_DS014274,parathyroid gland clear cell adenoma | parathyroid transitional clear cell adenoma
BMGC_DS05358,BMG_DS014275,mixed cell type adenoma of parathyroid
BMGC_DS05359,BMG_DS014276,clear cell renal carcinoma | clear cell renal cell carcinoma
BMGC_DS05360,BMG_DS014277,epithelial malignant thymoma | thymoma type B3
BMGC_DS05361,BMG_DS014278,lymphoepithelioma-like thymic carcinoma
BMGC_DS05362,BMG_DS014279,malignant type A thymoma
BMGC_DS05363,BMG_DS014280,testicular yolk sac tumor
BMGC_DS05364,BMG_DS014284,endometrial adenocarcinoma
BMGC_DS05365,BMG_DS014285,endometrial clear cell adenocarcinoma
BMGC_DS05366,BMG_DS014286,refractory hairy cell leukemia
BMGC_DS05367,BMG_DS014287,anterior urethra cancer
BMGC_DS05368,BMG_DS014288,posterior urethra cancer
BMGC_DS05369,BMG_DS014289,extraosseous Ewings sarcoma-primitive neuroepithelial tumor | extraskeletal Ewing sarcoma
BMGC_DS05370,BMG_DS014290,childhood fibrosarcoma | pediatric fibrosarcoma
BMGC_DS05371,BMG_DS014291,childhood malignant hemangiopericytoma
BMGC_DS05372,BMG_DS014292,childhood liposarcoma | pediatric liposarcoma
BMGC_DS05373,BMG_DS014293,alveolar soft part sarcoma
BMGC_DS05374,BMG_DS014294,childhood malignant schwannoma
BMGC_DS05375,BMG_DS014295,childhood angiosarcoma | pediatric angiosarcoma
BMGC_DS05376,BMG_DS014296,childhood epithelioid sarcoma
BMGC_DS05377,BMG_DS014297,childhood malignant mesenchymoma
BMGC_DS05378,BMG_DS014299,lung carcinoid tumor
BMGC_DS05379,BMG_DS014300,ovarian germ cell teratoma | ovarian teratoma
BMGC_DS05380,BMG_DS014301,ovarian germ cell monodermal and highly specialized teratoma | ovarian monodermal and highly specialized teratoma
BMGC_DS05381,BMG_DS014302,ovarian mixed germ cell neoplasm
BMGC_DS05382,BMG_DS014303,acute undifferentiated leukemia
BMGC_DS05383,BMG_DS014307,squamous cell carcinoma of lip
BMGC_DS05384,BMG_DS014311,oropharynx squamous cell carcinoma
BMGC_DS05385,BMG_DS014313,hypopharynx squamous cell carcinoma
BMGC_DS05386,BMG_DS014314,laryngeal squamous cell carcinoma
BMGC_DS05387,BMG_DS014315,glottis squamous cell carcinoma
BMGC_DS05388,BMG_DS014316,subglottis squamous cell carcinoma
BMGC_DS05389,BMG_DS014317,larynx verrucous carcinoma
BMGC_DS05390,BMG_DS014318,glottis verrucous carcinoma
BMGC_DS05391,BMG_DS014319,subglottis verrucous carcinoma
BMGC_DS05392,BMG_DS014320,supraglottis verrucous carcinoma
BMGC_DS05393,BMG_DS014321,nasal cavity and paranasal sinus squamous cell carcinoma
BMGC_DS05394,BMG_DS014322,nasal cavity squamous cell carcinoma
BMGC_DS05395,BMG_DS014323,paranasal sinus cancer | paranasal sinus squamous cell carcinoma
BMGC_DS05396,BMG_DS014324,nasal cavity inverting papilloma
BMGC_DS05397,BMG_DS014325,anus basaloid carcinoma
BMGC_DS05398,BMG_DS014326,childhood oligodendroglioma
BMGC_DS05399,BMG_DS014327,childhood choroid plexus cancer | childhood choroid plexus neoplasm
BMGC_DS05400,BMG_DS014328,uterine carcinosarcoma
BMGC_DS05401,BMG_DS014329,leiomyosarcoma of the corpus uteri | uterus leiomyosarcoma
BMGC_DS05402,BMG_DS014331,childhood meningioma | pediatric meningioma
BMGC_DS05403,BMG_DS014332,cholangiocarcinoma
BMGC_DS05404,BMG_DS014333,ovarian sarcoma | ovary sarcoma
BMGC_DS05405,BMG_DS014334,juvenile pilocytic astrocytoma
BMGC_DS05406,BMG_DS014336,adult anaplastic ependymoma | malignant adult ependymoma
BMGC_DS05407,BMG_DS014337,anaplastic ependymoma
BMGC_DS05408,BMG_DS014338,mixed astrocytoma-ependymoma
BMGC_DS05409,BMG_DS014339,mixed astrocytoma-ependymoma-oligodendroglioma
BMGC_DS05410,BMG_DS014340,mixed oligodendroglioma-astrocytoma
BMGC_DS05411,BMG_DS014341,adult pineal parenchymal tumor
BMGC_DS05412,BMG_DS014342,pineal gland astrocytoma
BMGC_DS05413,BMG_DS014343,adult central nervous system germ cell tumor | central nervous system adult germ cell tumor
BMGC_DS05414,BMG_DS014345,central nervous system lymphoma | primary central nervous system lymphoma
BMGC_DS05415,BMG_DS014346,vulva squamous cell carcinoma | vulvar squamous cell carcinoma
BMGC_DS05416,BMG_DS014349,bilateral breast cancer | bilateral breast carcinoma
BMGC_DS05417,BMG_DS014350,adult infiltrating astrocytic neoplasm
BMGC_DS05418,BMG_DS014351,"adult embryonal tumor with multilayered rosettes, C19MC-altered | adult embryonal tumor with multilayered rosettes, c19mc-altered"
BMGC_DS05419,BMG_DS014352,adult pineoblastoma
BMGC_DS05420,BMG_DS014353,adult papillary meningioma
BMGC_DS05421,BMG_DS014354,pancreatic adenocarcinoma
BMGC_DS05422,BMG_DS014356,desmoplastic small round cell tumor
BMGC_DS05423,BMG_DS014357,intraocular lymphoma
BMGC_DS05424,BMG_DS014377,"Chondrodysplasia calcificans congenita | Chondrodysplasia punctata, Conradi-Hunermann type | Chondrodysplasia punctata, Conradi-Hünermann type | Chondrodysplasia punctata, Conradi-Hünermann type (disorder) | Chondrodysplasia punctata, X-linked dominant type | Chondrodysplasia punctata, X-linked dominant type (disorder) | Chondrodystrophia calcificans congenita | Conradi Hünermann Happle syndrome | Conradi's syndrome | Conradi-Hunermann syndrome | Conradi-Hünermann syndrome | Happle syndrome | X-linked chondrodysplasia punctata 2 | X-linked chondrodysplasia punctata type 2"
BMGC_DS05425,BMG_DS014378,neurotic depression | neurotic disorder
BMGC_DS05426,BMG_DS014379,aplasia cutis congenita
BMGC_DS05427,BMG_DS014381,Iron Overload
BMGC_DS05428,BMG_DS014383,Cronkhite-Canada Syndrome | Cronkhite-Canada syndrome
BMGC_DS05429,BMG_DS014384,Amaurotic Familial Idiocy | Tay-Sachs Disease
BMGC_DS05430,BMG_DS014387,Bubonic Plague | Plague | bubonic plague
BMGC_DS05431,BMG_DS014388,"Cystitis, Interstitial | Interstitial Cystitis | interstitial cystitis"
BMGC_DS05432,BMG_DS014389,Sneddon Syndrome | Sneddon syndrome
BMGC_DS05433,BMG_DS014390,Environmental Illness
BMGC_DS05434,BMG_DS014391,Landau-Kleffner Syndrome | Landau-Kleffner syndrome
BMGC_DS05435,BMG_DS014392,primary progressive aphasia
BMGC_DS05436,BMG_DS014393,"Adrenoleukodystrophy, Neonatal | Peroxisomal Disorders"
BMGC_DS05437,BMG_DS014394,Hyperpipecolic Acidemia | Peroxisomal Disorders
BMGC_DS05438,BMG_DS014395,"Refsum Disease, Infantile | infantile Refsum disease | obsolete infantile Refsum disease | peroxisome biogenesis disorder 1B"
BMGC_DS05439,BMG_DS014396,Peroxisomal Disorders | peroxisomal disease
BMGC_DS05440,BMG_DS014397,"Chondrodysplasia Punctata, Rhizomelic | rhizomelic chondrodysplasia punctata"
BMGC_DS05441,BMG_DS014398,Leukostasis | Leukostasis (morphologic abnormality) | leukostasis
BMGC_DS05442,BMG_DS014399,Persian Gulf Syndrome | persian gulf syndrome
BMGC_DS05443,BMG_DS014400,Congenital Disorders of Glycosylation | congenital disorder of glycosylation
BMGC_DS05444,BMG_DS014401,muscle benign neoplasm | myomatous neoplasm
BMGC_DS05445,BMG_DS014402,vascular cancer | vascular neoplasm
BMGC_DS05446,BMG_DS014403,bone marrow neoplasm
BMGC_DS05447,BMG_DS014406,"Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz Syndrome, Type I"
BMGC_DS05448,BMG_DS014407,"Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz Syndrome, Type II"
BMGC_DS05449,BMG_DS014410,"Ebola hemorrhagic fever | Hemorrhagic Fever, Ebola"
BMGC_DS05450,BMG_DS014411,Mucormycosis | Phycomycosis | Zygomycosis | Zygomycosis (& [mucormycosis]) | Zygomycosis (& [mucormycosis]) (disorder) | Zygomycosis (disorder)
BMGC_DS05451,BMG_DS014413,Alymphocytosis | Lymphocytopenia | Lymphocytopenia (disorder) | Lymphopenia
BMGC_DS05452,BMG_DS014414,caudal regression sequence
BMGC_DS05453,BMG_DS014423,Merkel cell carcinoma | trabecular adenocarcinoma
BMGC_DS05454,BMG_DS014426,lytic metastatic bone lesion
BMGC_DS05455,BMG_DS014427,Xanthelasma | Xanthoma | Xanthoma of eyelid | Xanthoma of eyelid (disorder) | Xanthomatosis | Xanthomatosis (disorder) | Xanthomatous deposition | Xanthomatous deposition (morphologic abnormality) | xanthoma
BMGC_DS05456,BMG_DS014428,"Porokeratosis | Porokeratosis, Linear | linear porokeratosis"
BMGC_DS05457,BMG_DS014429,meningeal sarcoma | meninges sarcoma
BMGC_DS05458,BMG_DS014433,Brucella melitensis brucellosis
BMGC_DS05459,BMG_DS014434,Brucella abortus brucellosis
BMGC_DS05460,BMG_DS014436,Alcohol Withdrawal Delirium | Alcohol Withdrawal Hallucinosis
BMGC_DS05461,BMG_DS014441,cervical carcinoma | cervix carcinoma
BMGC_DS05462,BMG_DS014442,Fulminant Hepatitis | Massive Hepatic Necrosis
BMGC_DS05463,BMG_DS014444,"Euthyroid Goiter | goiter, multinodular 1, with or without Sertoli-Leydig cell tumors"
BMGC_DS05464,BMG_DS014446,porencephaly
BMGC_DS05465,BMG_DS014452,Folliculitis decalvans | Folliculitis decalvans (disorder) | Folliculitis depilans | Pustular folliculitis | Pustular folliculitis (disorder)
BMGC_DS05466,BMG_DS014455,"(Shoulder: [syndrome (& [painful arc][rotator cuff])][bicipital tendinit][bursitis][frozen][pericapsulit][adhes capsulit]) or (tendinitis: [subscapular][supraspinat][infraspinat][bicep long head]) | (Shoulder: [syndrome (& [painful arc][rotator cuff])][bicipital tendinit][bursitis][frozen][pericapsulit][adhes capsulit]) or (tendinitis: [subscapular][supraspinat][infraspinat][bicep long head]) (disorder) | Adhesions-capsulitis,shoulder | Adhesive capsulitis of shoulder | Adhesive capsulitis of shoulder (disorder) | Adhesive capsulitis of the shoulder | Adhesive capsulitis shoulder | Biceps tendinitis (long head) | Bicipital tendinitis-shoulder | Bursitis - shoulder | Bursitis of shoulder | Duplay periarthritis syndrome | Duplay's periarthritis syndrome | Frozen shoulder | Frozen shoulder (disorder) | Infraspinatus tendinitis | Painful arc syndr - shoulder | Painful arc syndrome: shoulder | Periarthritis of shoulder | Pericapsulitis of shoulder | Pericapsulitis, shoulder | Rotator cuff syndrome | Scapulohumeral fibrositis | Scapulohumeral myofibrosis | Shoulder syndrome | Shoulder: (frozen) or (adhesive capsulitis) or (bursitis) | Shoulder: (frozen) or (adhesive capsulitis) or (bursitis) (disorder) | Subscapularis tendinitis | Supraspinatus tendinitis | frozen shoulder"
BMGC_DS05467,BMG_DS014457,Congenital cyst of kidney | Congenital cystic disease of kidney | Congenital cystic kidney disease | Congenital cystic kidney disease (disorder) | Congenital cystic renal disease | Congenital polycystic kidney disease | Fibrocystic kidney | Kidney: [congenital cystic disease] or [fibrocystic] or [polycystic] or [sponge] | Kidney: [congenital cystic disease] or [fibrocystic] or [polycystic] or [sponge] (disorder) | Meckel syndrome | Multiple congenital cysts of kidney | PCK - Polycystic kidney disease | PKD - Polycystic kidney disease | Polycystic kidney | Polycystic kidney disease | Sponge kidney
BMGC_DS05468,BMG_DS014458,cryptophthalmia
BMGC_DS05469,BMG_DS014459,buphthalmos
BMGC_DS05470,BMG_DS014460,CMI - Chronic mesenteric ischaemia | CMI - Chronic mesenteric ischemia | Chronic intestinal ischaemia | Chronic intestinal ischaemic syndrome | Chronic intestinal ischemia | Chronic intestinal ischemic syndrome | Chronic intestinal vascular insufficiency | Chronic mesenteric ischaemia | Chronic mesenteric ischaemia (disorder) | Chronic mesenteric ischemia | Chronic vascular insufficiency of intestine | Chronic vascular insufficiency of intestine (disorder) | chronic intestinal vascular insufficiency
BMGC_DS05471,BMG_DS014463,Ascending cholangitis | Ascending cholangitis (disorder) | ascending cholangitis
BMGC_DS05472,BMG_DS014465,Lipoid dermatoarthritis | Lipoid dermatoarthritis (disorder) | Multicentric reticulohistiocytosis | Nicolau-Balus syndrome | multicentric reticulohistiocytosis
BMGC_DS05473,BMG_DS014475,Grand Mal Status Epilepticus | Status Epilepticus
BMGC_DS05474,BMG_DS014477,fundus albipunctatus
BMGC_DS05475,BMG_DS014487,Lupus anticoagulant | Lupus anticoagulant disorder | Lupus anticoagulant disorder (disorder) | Lupus anticoagulant inhibitor syndrome | SLE inhibitor syndrome
BMGC_DS05476,BMG_DS014491,"Coccidial enteritis | Cystoisosporiasis, unspecified | Intestinal coccidiosis | Intestinal coccidiosis (disorder) | Isosporiasis | Isosporiasis (disorder) | Isosporosis | cystoisosporiasis | isosporiasis"
BMGC_DS05477,BMG_DS014493,Nonspecific urethritis | Nonspecific urethritis (disorder) | urethritis
BMGC_DS05478,BMG_DS014494,hyperbilirubinemia
BMGC_DS05479,BMG_DS014500,congenital contractures
BMGC_DS05480,BMG_DS014521,mucositis
BMGC_DS05481,BMG_DS014538,amyloid tumor
BMGC_DS05482,BMG_DS014544,Focal Nodular Hyperplasia
BMGC_DS05483,BMG_DS014546,clear cell acanthoma
BMGC_DS05484,BMG_DS014553,inverted follicular keratosis
BMGC_DS05485,BMG_DS014557,nephrogenic adenoma
BMGC_DS05486,BMG_DS014558,Cutaneous ossification | Osteodermia | Osteoma cutis | Osteoma cutis (disorder) | Osteoma cutis (morphologic abnormality) | Osteosis cutis | progressive osseous heteroplasia
BMGC_DS05487,BMG_DS014562,"Fibrocystic change, proliferative type with atypia | Fibrocystic change, proliferative type with atypia (morphologic abnormality) | proliferative type fibrocystic change of breast"
BMGC_DS05488,BMG_DS014564,"Epidermal Nevus | epidermal nevus | nevus, epidermal"
BMGC_DS05489,BMG_DS014566,Lymphangiomatosis | Lymphangiomatosis (disorder) | Lymphangiomatosis (morphologic abnormality)
BMGC_DS05490,BMG_DS014569,inflammatory myofibroblastic tumor
BMGC_DS05491,BMG_DS014572,"Histiocytosis, Familial Lipochrome | familial lipochrome histiocytosis"
BMGC_DS05492,BMG_DS014578,malignant giant cell tumor
BMGC_DS05493,BMG_DS014581,pleomorphic carcinoma
BMGC_DS05494,BMG_DS014582,small cell carcinoma
BMGC_DS05495,BMG_DS014583,verrucous papilloma
BMGC_DS05496,BMG_DS014584,papillary squamous carcinoma
BMGC_DS05497,BMG_DS014587,keratinizing squamous cell carcinoma
BMGC_DS05498,BMG_DS014588,adenoid squamous cell carcinoma
BMGC_DS05499,BMG_DS014589,lymphoepithelioma-like carcinoma | nasopharyngeal type undifferentiated carcinoma
BMGC_DS05500,BMG_DS014590,superficial basal cell carcinoma | superficial multifocal basal cell carcinoma
BMGC_DS05501,BMG_DS014592,Borst-Jadassohn intraepidermal carcinoma
BMGC_DS05502,BMG_DS014594,transitional cell carcinoma | transitional cell neoplasm
BMGC_DS05503,BMG_DS014595,transitional cell papilloma | transitional papilloma
BMGC_DS05504,BMG_DS014596,inverted transitional papilloma
BMGC_DS05505,BMG_DS014597,Schneiderian carcinoma | non-keratinizing sinonasal squamous cell carcinoma
BMGC_DS05506,BMG_DS014598,sarcomatoid transitional cell carcinoma
BMGC_DS05507,BMG_DS014599,cloacogenic carcinoma
BMGC_DS05508,BMG_DS014600,papillary transitional carcinoma | papillary transitional cell carcinoma
BMGC_DS05509,BMG_DS014601,adenocarcinoma in situ
BMGC_DS05510,BMG_DS014603,diffuse type adenocarcinoma | gastric diffuse adenocarcinoma
BMGC_DS05511,BMG_DS014604,bile duct cystadenoma
BMGC_DS05512,BMG_DS014605,bile duct cystadenocarcinoma | bile duct mucinous cystic neoplasm with an associated invasive carcinoma
BMGC_DS05513,BMG_DS014606,fibrolamellar carcinoma | fibrolamellar hepatocellular carcinoma
BMGC_DS05514,BMG_DS014610,alveoli adenoma
BMGC_DS05515,BMG_DS014611,villous adenocarcinoma
BMGC_DS05516,BMG_DS014613,mixed eosinophil-basophil adenoma | pituitary gland mixed eosinophil-basophil adenoma
BMGC_DS05517,BMG_DS014614,basophilic adenocarcinoma
BMGC_DS05518,BMG_DS014615,clear cell adenoma
BMGC_DS05519,BMG_DS014616,clear cell adenofibroma | cystadenofibroma
BMGC_DS05520,BMG_DS014617,lipid-rich carcinoma
BMGC_DS05521,BMG_DS014618,glycogen-rich carcinoma
BMGC_DS05522,BMG_DS014619,chief cell adenoma
BMGC_DS05523,BMG_DS014620,water-clear cell adenoma
BMGC_DS05524,BMG_DS014621,clear cell adenocarcinoma
BMGC_DS05525,BMG_DS014622,mixed cell adenoma
BMGC_DS05526,BMG_DS014623,lipoadenoma
BMGC_DS05527,BMG_DS014624,trabecular follicular adenocarcinoma
BMGC_DS05528,BMG_DS014625,fetal adenoma | thyroid gland fetal adenoma
BMGC_DS05529,BMG_DS014626,colloid adenoma | thyroid gland macrofollicular adenoma
BMGC_DS05530,BMG_DS014627,diffuse sclerosing papillary thyroid carcinoma | thyroid gland diffuse sclerosing papillary carcinoma
BMGC_DS05531,BMG_DS014629,apocrine adenoma
BMGC_DS05532,BMG_DS014630,apocrine adenocarcinoma | apocrine carcinoma
BMGC_DS05533,BMG_DS014631,benign spiradenoma | spiradenoma
BMGC_DS05534,BMG_DS014632,papillary hidradenoma
BMGC_DS05535,BMG_DS014633,eccrine papillary adenoma
BMGC_DS05536,BMG_DS014634,ceruminoma
BMGC_DS05537,BMG_DS014635,ceruminous adenocarcinoma | ceruminous carcinoma
BMGC_DS05538,BMG_DS014637,serous surface papilloma
BMGC_DS05539,BMG_DS014638,mucin-producing carcinoma | mucinous adenocarcinoma
BMGC_DS05540,BMG_DS014640,breast secretory carcinoma
BMGC_DS05541,BMG_DS014641,intracystic papillary adenoma
BMGC_DS05542,BMG_DS014645,adenoma
BMGC_DS05543,BMG_DS014646,epithelial-myoepithelial carcinoma
BMGC_DS05544,BMG_DS014647,adenoid squamous cell carcinoma
BMGC_DS05545,BMG_DS014648,granulosa cell tumor
BMGC_DS05546,BMG_DS014649,juvenile type testicular granulosa cell tumor
BMGC_DS05547,BMG_DS014652,Leydig cell tumor | malignant Leydig cell tumor
BMGC_DS05548,BMG_DS014657,glomangioma
BMGC_DS05549,BMG_DS014658,glomangiomyoma
BMGC_DS05550,BMG_DS014659,nodular malignant melanoma
BMGC_DS05551,BMG_DS014660,balloon cell malignant melanoma
BMGC_DS05552,BMG_DS014662,epithelioid cell melanoma
BMGC_DS05553,BMG_DS014663,malignant spindle cell melanoma | spindle cell melanoma
BMGC_DS05554,BMG_DS014665,sarcomatosis
BMGC_DS05555,BMG_DS014666,congenital fibrosarcoma
BMGC_DS05556,BMG_DS014668,malignant fibrous histiocytoma | undifferentiated pleomorphic sarcoma
BMGC_DS05557,BMG_DS014670,sclerosing liposarcoma
BMGC_DS05558,BMG_DS014671,cellular myxoid liposarcoma | round cell liposarcoma
BMGC_DS05559,BMG_DS014672,mixed liposarcoma
BMGC_DS05560,BMG_DS014673,infiltrating lipoma
BMGC_DS05561,BMG_DS014674,spindle cell lipoma
BMGC_DS05562,BMG_DS014675,cellular leiomyoma
BMGC_DS05563,BMG_DS014676,bizarre leiomyoma
BMGC_DS05564,BMG_DS014677,pleomorphic rhabdomyosarcoma
BMGC_DS05565,BMG_DS014678,mixed type rhabdomyosarcoma
BMGC_DS05566,BMG_DS014680,clear cell sarcoma of kidney | kidney clear cell sarcoma
BMGC_DS05567,BMG_DS014681,pancreatoblastoma
BMGC_DS05568,BMG_DS014683,malignant mesenchymoma
BMGC_DS05569,BMG_DS014684,malignant ovarian Brenner tumor
BMGC_DS05570,BMG_DS014685,breast intracanalicular fibroadenoma
BMGC_DS05571,BMG_DS014686,breast pericanalicular fibroadenoma
BMGC_DS05572,BMG_DS014688,mucinous adenofibroma
BMGC_DS05573,BMG_DS014690,spindle cell synovial sarcoma
BMGC_DS05574,BMG_DS014691,epithelioid cell synovial sarcoma
BMGC_DS05575,BMG_DS014692,biphasic synovial sarcoma
BMGC_DS05576,BMG_DS014693,benign fibrous mesothelioma
BMGC_DS05577,BMG_DS014694,sarcomatoid mesothelioma
BMGC_DS05578,BMG_DS014695,malignant biphasic mesothelioma
BMGC_DS05579,BMG_DS014696,spermatocytic seminoma | spermatocytoma
BMGC_DS05580,BMG_DS014698,immature teratoma | malignant teratoma
BMGC_DS05581,BMG_DS014699,intermediate malignant teratoma
BMGC_DS05582,BMG_DS014701,mixed germ cell cancer | mixed germ cell tumor
BMGC_DS05583,BMG_DS014702,malignant struma ovarii
BMGC_DS05584,BMG_DS014703,partial hydatidiform mole
BMGC_DS05585,BMG_DS014707,arteriovenous hemangioma/malformation | arteriovenous malformation
BMGC_DS05586,BMG_DS014709,verrucous hemangioma | verrucous keratotic hemangioma
BMGC_DS05587,BMG_DS014710,"hemangiopericytoma, malignant"
BMGC_DS05588,BMG_DS014712,osteosarcoma arising in bone Paget disease | osteosarcoma arising in bone Paget's disease
BMGC_DS05589,BMG_DS014713,juxtacortical chondroma | periosteal chondroma
BMGC_DS05590,BMG_DS014714,juxtacortical chondrosarcoma | periosteal chondrosarcoma
BMGC_DS05591,BMG_DS014715,myxoid chondrosarcoma
BMGC_DS05592,BMG_DS014716,bone giant cell sarcoma | malignancy in giant cell tumor of bone
BMGC_DS05593,BMG_DS014718,malignant giant cell tumor of soft parts
BMGC_DS05594,BMG_DS014719,adamantinoma | long bone adamantinoma
BMGC_DS05595,BMG_DS014722,gliomatosis cerebri
BMGC_DS05596,BMG_DS014723,papillary ependymoma
BMGC_DS05597,BMG_DS014724,anaplastic astrocytoma
BMGC_DS05598,BMG_DS014725,protoplasmic astrocytoma
BMGC_DS05599,BMG_DS014726,gemistocytic astrocytoma
BMGC_DS05600,BMG_DS014727,fibrillary astrocytoma
BMGC_DS05601,BMG_DS014728,pilocytic astrocytoma
BMGC_DS05602,BMG_DS014729,pleomorphic xanthoastrocytoma
BMGC_DS05603,BMG_DS014730,astroblastoma
BMGC_DS05604,BMG_DS014731,giant cell glioblastoma
BMGC_DS05605,BMG_DS014732,anaplastic oligodendroglioma
BMGC_DS05606,BMG_DS014734,Pacinian tumor
BMGC_DS05607,BMG_DS014735,meningothelial meningioma
BMGC_DS05608,BMG_DS014736,fibrous meningioma
BMGC_DS05609,BMG_DS014737,psammomatous meningioma
BMGC_DS05610,BMG_DS014738,angiomatous meningioma
BMGC_DS05611,BMG_DS014739,transitional meningioma
BMGC_DS05612,BMG_DS014740,sarcomatosis of the meninges
BMGC_DS05613,BMG_DS014741,malignant triton tumor
BMGC_DS05614,BMG_DS014742,granular cell cancer | malignant granular cell myoblastoma
BMGC_DS05615,BMG_DS014743,lymphoplasmacytic lymphoma
BMGC_DS05616,BMG_DS014744,intravascular large B-cell lymphoma
BMGC_DS05617,BMG_DS014745,histiocytic sarcoma
BMGC_DS05618,BMG_DS014746,mast cell neoplasm
BMGC_DS05619,BMG_DS014749,renal adenoma
BMGC_DS05620,BMG_DS014750,endometrial stromal tumor
BMGC_DS05621,BMG_DS014751,malignant myoepithelioma | myoepithelial carcinoma
BMGC_DS05622,BMG_DS014752,childhood cerebral astrocytoma
BMGC_DS05623,BMG_DS014753,functionless pituitary adenoma | silent pituitary adenoma
BMGC_DS05624,BMG_DS014754,colon adenocarcinoma
BMGC_DS05625,BMG_DS014755,uterine corpus sarcoma
BMGC_DS05626,BMG_DS014767,"Escherichia coli meningitis | Meningitis, Escherichia coli"
BMGC_DS05627,BMG_DS014768,Proteus meningitis | Proteus meningitis (disorder)
BMGC_DS05628,BMG_DS014785,"Encephalitis, Acute Necrotizing | Leukoencephalitis, Acute Hemorrhagic | acute necrotizing encephalitis"
BMGC_DS05629,BMG_DS014794,Limbic Encephalitis | limbic encephalitis
BMGC_DS05630,BMG_DS014799,Cerebral cysticercosis | Cerebral cysticercosis (disorder) | Neurocysticercosis
BMGC_DS05631,BMG_DS014809,Frontotemporal dementia | Frontotemporal dementia (disorder) | Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | Other specified disorders of the nervous system | frontotemporal dementia
BMGC_DS05632,BMG_DS014818,semantic dementia
BMGC_DS05633,BMG_DS014822,"Tic Disorders | Tic Disorders, Vocal"
BMGC_DS05634,BMG_DS014825,Neuroaxonal Dystrophies | neuroaxonal dystrophy
BMGC_DS05635,BMG_DS014827,"Epilepsies, Myoclonic | Idiopathic Myoclonic Epilepsy"
BMGC_DS05636,BMG_DS014828,"Epilepsies, Myoclonic | Symptomatic Myoclonic Epilepsy"
BMGC_DS05637,BMG_DS014829,Common Migraine | Migraine without Aura | migraine without aura
BMGC_DS05638,BMG_DS014831,Migraine with Aura | Migraine with Prolonged Aura
BMGC_DS05639,BMG_DS014832,Familial Hemiplegic Migraine | Migraine with Aura | familial hemiplegic migraine
BMGC_DS05640,BMG_DS014833,Migraine Aura without Headache | Migraine with Aura
BMGC_DS05641,BMG_DS014835,Alternating hemiplegia of childhood | Alternating hemiplegia of childhood (disorder) | alternating hemiplegia of childhood
BMGC_DS05642,BMG_DS014836,Migraine Disorders | Status Migrainosus
BMGC_DS05643,BMG_DS014838,"Sleep Apnea Syndromes | Sleep Apnea, Mixed Central and Obstructive | complex sleep apnea | mixed sleep apnea"
BMGC_DS05644,BMG_DS014844,Optic Nerve Hypoplasia | bilateral optic nerve hypoplasia
BMGC_DS05645,BMG_DS014845,Septo-Optic Dysplasia | septooptic dysplasia
BMGC_DS05646,BMG_DS014849,"Optic Atrophy 1 | Optic Atrophy, Autosomal Dominant | autosomal dominant optic atrophy, classic form"
BMGC_DS05647,BMG_DS014873,Ulnar Neuritis | Ulnar Neuropathies
BMGC_DS05648,BMG_DS014888,Cerebral venous sinus thrombosis | Cerebral venous sinus thrombosis (disorder) | Thrombosis of intracranial venous sinus
BMGC_DS05649,BMG_DS014890,Sagittal Sinus Thrombosis | sagittal sinus thrombosis
BMGC_DS05650,BMG_DS014895,Cerebral Amyloid Angiopathy | Sporadic Cerebral Amyloid Angiopathy
BMGC_DS05651,BMG_DS014896,Carotid artery dissection | Carotid artery dissection (disorder) | Dissection of carotid artery | Dissection of carotid artery (disorder) | carotid artery dissection
BMGC_DS05652,BMG_DS014902,transient global amnesia
BMGC_DS05653,BMG_DS014905,Congenital spastic cerebral palsy | Congenital spastic paralysis | Infantile spastic cerebral palsy | Little's disease | Pyramidal cerebral palsy | Spastic cerebral palsy | Spastic cerebral palsy (disorder) | Spastic infantile paralysis | spastic cerebral palsy
BMGC_DS05654,BMG_DS014923,"Catatonia | Catatonia, Organic"
BMGC_DS05655,BMG_DS014943,mixed anxiety and depressive disorder
BMGC_DS05656,BMG_DS014977,Ascher syndrome | Blepharochalasis And Double Lip
BMGC_DS05657,BMG_DS014984,eyelid melanoma | malignant eyelid melanoma
BMGC_DS05658,BMG_DS014987,secondary lacrimal atrophy
BMGC_DS05659,BMG_DS014988,lacrimal gland cancer | lacrimal gland neoplasm
BMGC_DS05660,BMG_DS014991,Acute inflammation of lacrimal passages | Acute inflammation of lacrimal passages (disorder) | acute inflammation of lacrimal passage
BMGC_DS05661,BMG_DS014992,Acute canaliculitis | Acute lacrimal canaliculitis | Acute lacrimal canaliculitis (disorder) | acute canaliculitis
BMGC_DS05662,BMG_DS014999,Graves Ophthalmopathy | Graves ophthalmopathy
BMGC_DS05663,BMG_DS015012,Fungal conjunctivitis | Fungal conjunctivitis (disorder)
BMGC_DS05664,BMG_DS015031,Neuroparalytic keratitis | Neuropathic corneal ulcer | Neuropathic corneal ulcer (disorder) | Neurotrophic corneal ulcer
BMGC_DS05665,BMG_DS015051,"Corneal dystrophy, Lattice type 3 | gelatinous drop-like corneal dystrophy"
BMGC_DS05666,BMG_DS015052,"Corneal Dystrophy, Juvenile Epithelial of Meesmann | Meesmann corneal dystrophy"
BMGC_DS05667,BMG_DS015053,CDB type I corneal dystrophy | Reis-Bucklers corneal dystrophy | Reis-Bucklers' corneal dystrophy | Reis-Bucklers' corneal dystrophy (disorder)
BMGC_DS05668,BMG_DS015055,Polymorphous corneal dystrophy | Posterior polymorphous corneal dystrophy (disorder) | posterior polymorphous corneal dystrophy
BMGC_DS05669,BMG_DS015056,Acute hydrops keratoconus | Acute hydrops keratoconus (disorder) | Acute hydrops of the cornea | acute hydrops keratoconus
BMGC_DS05670,BMG_DS015058,Exposure keratitis | Exposure keratoconjunctivitis | Exposure keratoconjunctivitis (disorder) | Exposure keratopathy | Lagophthalmic keratitis | exposure keratitis
BMGC_DS05671,BMG_DS015059,Anaesthetic keratopathy | Anesthetic keratopathy | Neuroparalytic keratopathy | Neurotrophic keratitis | Neurotrophic keratitis (disorder) | Neurotrophic keratopathy | neurotrophic keratopathy
BMGC_DS05672,BMG_DS015063,cornea cancer | cornea neoplasm
BMGC_DS05673,BMG_DS015071,Non-infectious anterior uveitis | Non-infectious anterior uveitis (disorder) | non-infectious anterior uveitis
BMGC_DS05674,BMG_DS015072,Lens-induced iridocyclitis | Lens-induced iridocyclitis (disorder) | Other specified anterior uveitis | lens-induced iridocyclitis
BMGC_DS05675,BMG_DS015077,ciliary body cancer | ciliary body neoplasm
BMGC_DS05676,BMG_DS015092,Peripheral focal chorioretinitis | Peripheral focal choroiditis AND chorioretinitis | Peripheral focal choroiditis AND chorioretinitis (disorder) | peripheral focal chorioretinitis
BMGC_DS05677,BMG_DS015112,Circinate choroidal dystrophy | Partial central choroid dystrophy | Partial central choroid dystrophy (disorder) | Partial central dystrophy of choroid | partial central choroid dystrophy
BMGC_DS05678,BMG_DS015117,degeneration of macula and posterior pole
BMGC_DS05679,BMG_DS015118,Haemorrhage - retinal | Hemorrhage - retinal | Other retinal disorders | Other retinal disorders &/or retinal haemorrhage | Other retinal disorders &/or retinal haemorrhage (disorder) | Other retinal disorders &/or retinal hemorrhage | Other retinal disorders &/or retinopathies | Other retinal disorders &/or retinopathies (disorder) | Other retinal disorders (disorder) | Retinopathies
BMGC_DS05680,BMG_DS015147,central retinal vein occlusion with macular edema
BMGC_DS05681,BMG_DS015152,Vitelliform Macular Dystrophy | vitelliform macular dystrophy
BMGC_DS05682,BMG_DS015154,Leber Congenital Amaurosis | Leber congenital amaurosis
BMGC_DS05683,BMG_DS015157,Usher syndrome type 2 | Usher syndrome type 2 (disorder)
BMGC_DS05684,BMG_DS015158,congenital stationary night blindness
BMGC_DS05685,BMG_DS015159,blue cone monochromacy
BMGC_DS05686,BMG_DS015160,Familial Exudative Vitreoretinopathies | exudative vitreoretinopathy
BMGC_DS05687,BMG_DS015161,Enhanced S-cone syndrome | Goldmann-Favre syndrome | Goldmann-Favre syndrome (disorder) | Retinoschisis with early nyctalopia
BMGC_DS05688,BMG_DS015163,preretinal fibrosis
BMGC_DS05689,BMG_DS015164,Retinal Detachment | Retinal Pigment Epithelial Detachment
BMGC_DS05690,BMG_DS015168,retina lymphoma
BMGC_DS05691,BMG_DS015179,steroid-induced glaucoma - borderline
BMGC_DS05692,BMG_DS015180,"Glaucoma, Open-Angle | Glaucoma, Primary Open Angle | OPTN-related open angle glaucoma | primary open angle glaucoma"
BMGC_DS05693,BMG_DS015184,Corticosteroid-induced glaucoma | Corticosteroid-induced open angle glaucoma | Open angle glaucoma caused by corticosteroid | Open angle glaucoma caused by corticosteroid (disorder) | Steroid responder open angle glaucoma | steroid-induced glaucoma
BMGC_DS05694,BMG_DS015186,residual stage corticosteroid-induced glaucoma
BMGC_DS05695,BMG_DS015197,Glaucoma due to ocular trauma | Glaucoma due to ocular trauma (disorder) | Traumatic glaucoma | traumatic glaucoma
BMGC_DS05696,BMG_DS015206,Monofixation syndrome | Monofixation syndrome (disorder) | monofixation syndrome
BMGC_DS05697,BMG_DS015217,Esotropia | Primary Esotropia
BMGC_DS05698,BMG_DS015218,Esotropia | Secondary Esotropia
BMGC_DS05699,BMG_DS015262,Astigmatism | Corneal Astigmatism
BMGC_DS05700,BMG_DS015263,Astigmatism | Lenticular Astigmatism
BMGC_DS05701,BMG_DS015270,Amblyopia | Anisometropic Amblyopia
BMGC_DS05702,BMG_DS015274,"Blindness | Blindness, Acquired"
BMGC_DS05703,BMG_DS015283,"CSOM - Chronic suppurative otitis media | Chronic otitis media with effusion, purulent | Chronic otitis media with perforation | Chronic purulent otitis media | Chronic purulent otitis media (disorder) | Chronic secretory otitis media, purulent | Chronic suppurative otitis media | Otitis media with effusion - purulent"
BMGC_DS05704,BMG_DS015289,Congenital deafness | Congenital deafness (disorder)
BMGC_DS05705,BMG_DS015312,Disorder of nasal cavity | Disorder of nasal cavity (disorder) | nasal cavity disease | nasal cavity disorder
BMGC_DS05706,BMG_DS015331,"nasal bones, absence of"
BMGC_DS05707,BMG_DS015357,Lung disease with systemic sclerosis | Lung disease with systemic sclerosis (disorder) | Scleroderma lung disease | Scleroderma of lung | pulmonary systemic sclerosis
BMGC_DS05708,BMG_DS015375,Acute Moraxella catarrhalis bronchitis | Acute Moraxella catarrhalis bronchitis (disorder) | Acute Neisseria catarrhalis bronchitis
BMGC_DS05709,BMG_DS015376,Acute bacterial bronchitis | Acute bacterial bronchitis (disorder)
BMGC_DS05710,BMG_DS015383,Bronchopneumonic tularaemia | Bronchopneumonic tularemia | Other specified tularaemia | Pneumonia with tularaemia | Pneumonia with tularemia | Pneumonic tularaemia | Pneumonic tularemia | Pulmonary tularaemia | Pulmonary tularemia | Pulmonary tularemia (disorder) | Tularaemia pneumonia | Tularemia pneumonia | pneumonic tularemia
BMGC_DS05711,BMG_DS015390,Chlamydia pneumonia | Chlamydial pneumonia | Chlamydial pneumonia (disorder) | Pneumonia caused by Chlamydiaceae | Pneumonia caused by Chlamydiaceae (disorder) | Pneumonia due to Chlamydophila pneumoniae | pneumonia caused by chlamydia
BMGC_DS05712,BMG_DS015399,Neonatal pneumonia | Neonatal pneumonia (disorder)
BMGC_DS05713,BMG_DS015411,Idiopathic bronchiectasis | Idiopathic bronchiectasis (disorder) | idiopathic bronchiectasis
BMGC_DS05714,BMG_DS015432,congenital chylothorax
BMGC_DS05715,BMG_DS015448,"Immotile cilia syndrome, due to defective radial spokes | ciliary dyskinesia with defective radial spokes"
BMGC_DS05716,BMG_DS015450,Young Syndrome | Young syndrome
BMGC_DS05717,BMG_DS015451,Ciliary Discoordination Due To Random Ciliary Orientation | ciliary discoordination due to random ciliary orientation
BMGC_DS05718,BMG_DS015455,Acute exacerbation of COPD (chronic obstructive pulmonary disease) | Acute exacerbation of chronic obstructive airways disease | Acute exacerbation of chronic obstructive pulmonary disease | Acute exacerbation of chronic obstructive pulmonary disease (disorder)
BMGC_DS05719,BMG_DS015469,Airway hyperreactivity | Asthma | Asthma (disorder) | Asthmatic | BHR - Bronchial hyperreactivity | Bronchial asthma | Bronchial hyperreactivity | Bronchial hyperresponsiveness | Bronchial hypersensitivity | Hyperreactive airway disease
BMGC_DS05720,BMG_DS015491,Summer-Type Hypersensitivity Pneumonitis | Trichosporonosis | trichosporonosis
BMGC_DS05721,BMG_DS015498,High altitude pulmonary edema | High altitude pulmonary edema (disorder) | High altitude pulmonary oedema | Pulmonary edema of mountaineers | Pulmonary oedema of mountaineers | high altitude pulmonary edema
BMGC_DS05722,BMG_DS015517,Localised pulmonary fibrosis | Localized pulmonary fibrosis | Localized pulmonary fibrosis (disorder) | localized pulmonary fibrosis
BMGC_DS05723,BMG_DS015555,Baritosis | Baritosis (disorder) | Barium lung | Barium lung disease | Barium pneumoconiosis | Baryta miners' disease | Barytosis | baritosis
BMGC_DS05724,BMG_DS015562,Mixed dust fibrosis | Mixed mineral dust pneumoconiosis | Mixed mineral dust pneumoconiosis (disorder) | mixed mineral dust pneumoconiosis
BMGC_DS05725,BMG_DS015564,Schistosis | Schistosis (disorder) | Slate pneumoconiosis | Slate workers pneumoconiosis | Slate-workers' lung | slate pneumoconiosis
BMGC_DS05726,BMG_DS015571,Hypoxemic Respiratory Failure | Respiratory Insufficiency
BMGC_DS05727,BMG_DS015619,(Cardiomegaly) or (ventricular hypertrophy (& left)) | (Cardiomegaly) or (ventricular hypertrophy (& left)) (disorder) | Cardiomegaly | Left ventricular hypertrophy | Ventricular hypertrophy | Ventricular hypertrophy (& [left]) | Ventricular hypertrophy (& [left]) (disorder) | Ventricular hypertrophy (disorder)
BMGC_DS05728,BMG_DS015623,Stable angina | Stable angina (disorder)
BMGC_DS05729,BMG_DS015634,Inferior Wall Myocardial Infarction | inferior myocardial infarction
BMGC_DS05730,BMG_DS015641,lateral myocardial infarction
BMGC_DS05731,BMG_DS015648,posterior myocardial infarction
BMGC_DS05732,BMG_DS015649,(Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) (disorder) | Acute myocardial infarction | Attack - heart | Cardiac rupture after acute myocardial infarction | Cardiac rupture following myocardial infarction (MI) | Coronary thrombosis | Heart attack | MI - Acute myocardial infarction | MI - Silent myocardial infarction | MI - acute myocardial infarction | Silent myocardial infarction | Silent myocardial infarction (disorder) | Thrombosis - coronary | silent myocardial infarction
BMGC_DS05733,BMG_DS015662,Cardiac Q fever | Endocarditis - Q fever | Q fever endocarditis | Q fever endocarditis (disorder)
BMGC_DS05734,BMG_DS015670,familial mitral valve prolapse
BMGC_DS05735,BMG_DS015678,Subaortic stenosis | Subaortic stenosis (disorder) | Subvalvar stenosis | Subvalvular stenosis | subvalvular aortic stenosis
BMGC_DS05736,BMG_DS015707,Familial dilated cardiomyopathy | Primary familial dilated cardiomyopathy | Primary familial dilated cardiomyopathy (disorder) | familial dilated cardiomyopathy
BMGC_DS05737,BMG_DS015709,familial restrictive cardiomyopathy
BMGC_DS05738,BMG_DS015730,"Cardiac Complexes, Premature | Premature Cardiac Complex"
BMGC_DS05739,BMG_DS015744,"Familial Polymorphic Ventricular Tachycardia | Polymorphic Catecholaminergic Ventricular Tachycardia | ventricular tachycardia, familial"
BMGC_DS05740,BMG_DS015750,Familial sick sinus syndrome | Familial sick sinus syndrome (disorder) | familial sick sinus syndrome
BMGC_DS05741,BMG_DS015751,Paroxysmal familial ventricular fibrillation | Paroxysmal familial ventricular fibrillation (disorder) | paroxysmal familial ventricular fibrillation
BMGC_DS05742,BMG_DS015752,Other conduction disorders | Other conduction disorders (disorder)
BMGC_DS05743,BMG_DS015755,"Bundle Branch Block, Familial Isolated Complete Right | bundle branch block, familial isolated complete right"
BMGC_DS05744,BMG_DS015773,Familial primary pulmonary hypertension | Familial primary pulmonary hypertension (disorder) | heritable pulmonary arterial hypertension
BMGC_DS05745,BMG_DS015774,Drug-induced pulmonary hypertension | Pulmonary arterial hypertension caused by drug | Pulmonary arterial hypertension induced by drug | Pulmonary hypertension caused by drug | Pulmonary hypertension caused by drug (disorder) | drug- or toxin-induced pulmonary arterial hypertension
BMGC_DS05746,BMG_DS015777,Pulmonary capillary haemangiomatosis | Pulmonary capillary hemangiomatosis | Pulmonary capillary hemangiomatosis (disorder)
BMGC_DS05747,BMG_DS015781,"High altitude pulmonary hypertension | Pulmonary hypertension caused by low air pressure due to chronic exposure to high altitude | Pulmonary hypertension caused by low air pressure due to chronic exposure to high altitude (disorder) | pulmonary edema of mountaineers, susceptibility to"
BMGC_DS05748,BMG_DS015791,Carotid Stenosis | Internal Carotid Artery Stenosis | internal carotid artery stenosis
BMGC_DS05749,BMG_DS015806,Renal artery thrombosis | Thrombosis of renal artery | Thrombosis of renal artery (disorder)
BMGC_DS05750,BMG_DS015813,Anterior Spinal Artery Dissection | Anterior Spinal Artery Syndrome
BMGC_DS05751,BMG_DS015814,"Aortic aneurysm or dissection, unspecified | Dissection of aorta | Dissection of aorta (disorder)"
BMGC_DS05752,BMG_DS015898,capillary malformation
BMGC_DS05753,BMG_DS015899,Capillary fragility - hereditary | Hereditary vascular fragility | Hereditary vascular fragility (disorder)
BMGC_DS05754,BMG_DS015900,splenoportal vascular anomalies
BMGC_DS05755,BMG_DS015901,"Hennekam lymphangiectasia-lymphedema syndrome | Hennekam lymphangiectasia-lymphedema syndrome (disorder) | Hennekam lymphangiectasia-lymphoedema syndrome | Hennekam syndrome | Lymphedema, lymphangiectasia, intellectual disability syndrome | Lymphoedema, lymphangiectasia, intellectual disability syndrome"
BMGC_DS05756,BMG_DS015903,"PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE | pulmonary venoocclusive disease 2"
BMGC_DS05757,BMG_DS015907,"Syncope | Syncope, Situational"
BMGC_DS05758,BMG_DS015908,"Syncope | Syncope, Micturition"
BMGC_DS05759,BMG_DS015981,Deficiency of phosphoenol transphosphorylase | Deficiency of phosphoenolpyruvate kinase | Deficiency of pyruvate kinase | Deficiency of pyruvate kinase (disorder) | PK - Pyruvate kinase deficiency | Pyruvate kinase deficiency | pyruvate kinase deficiency of red cells
BMGC_DS05760,BMG_DS015997,Odontoclasia | Odontoclasia (disorder) | odontoclasia
BMGC_DS05761,BMG_DS016006,Streptococcal infection of mouth | Streptococcal infection of mouth (disorder) | Streptococcal stomatitis
BMGC_DS05762,BMG_DS016013,"FCMC - Familial chronic mucocutaneous candidiasis | FCMC - Familial chronic mucocutaneous candidosis | Familial chronic mucocutaneous candidiasis | Familial chronic mucocutaneous candidiasis (disorder) | Familial chronic mucocutaneous candidosis | candidiasis, familial, 4"
BMGC_DS05763,BMG_DS016038,Eosinophilic esophagitis | Eosinophilic esophagitis (disorder) | Eosinophilic oesophagitis | eosinophilic esophagitis
BMGC_DS05764,BMG_DS016040,Bacterial esophagitis | Bacterial esophagitis (disorder) | Bacterial oesophagitis | bacterial esophagitis
BMGC_DS05765,BMG_DS016041,Fungal esophagitis | Fungal esophagitis (disorder) | Fungal oesophagitis | fungal esophagitis
BMGC_DS05766,BMG_DS016042,Viral esophagitis | Viral esophagitis (disorder) | Viral oesophagitis | viral esophagitis
BMGC_DS05767,BMG_DS016065,"Esophageal Ring, Lower | esophageal ring, lower"
BMGC_DS05768,BMG_DS016182,Microvillus inclusion disease | microvillus inclusion disease
BMGC_DS05769,BMG_DS016197,Indeterminate colitis | Indeterminate colitis (disorder) | indeterminate colitis
BMGC_DS05770,BMG_DS016200,Cytomegalovirus Colitis | Cytomegalovirus Infections
BMGC_DS05771,BMG_DS016274,pancreatic cystadenoma
BMGC_DS05772,BMG_DS016284,Bacterial peritonitis | Bacterial peritonitis (disorder) | septic peritonitis
BMGC_DS05773,BMG_DS016299,Enteric colibacillosis | Escherichia coli gastrointestinal tract infection | Escherichia gastroenteritis | Intestinal infection caused by E. coli | Intestinal infection caused by Escherichia coli | Intestinal infection caused by Escherichia coli (disorder)
BMGC_DS05774,BMG_DS016339,impaired renal function disease
BMGC_DS05775,BMG_DS016347,Acute diffuse nephritis | Acute diffuse nephritis (disorder) | acute diffuse glomerulonephritis | acute diffuse nephritis
BMGC_DS05776,BMG_DS016350,Acute proliferative glomerulonephritis | Acute proliferative glomerulonephritis (disorder) | PGN - Acute proliferative glomerulonephritis | acute proliferative glomerulonephritis
BMGC_DS05777,BMG_DS016352,chronic rapidly progressive glomerulonephritis
BMGC_DS05778,BMG_DS016353,Atrophy of kidney | Atrophy of kidney (disorder) | Renal atrophy
BMGC_DS05779,BMG_DS016356,Adult Fanconi syndrome | Adult Fanconi syndrome (disorder) | Fanconi syndrome | adult Fanconi syndrome
BMGC_DS05780,BMG_DS016370,DSD - Detrusor and sphincter dyssynergia | Detrusor and sphincter dyssynergia | Detrusor and sphincter dyssynergia (disorder) | detrusor sphincter dyssynergia
BMGC_DS05781,BMG_DS016378,paraurethral gland neoplasm
BMGC_DS05782,BMG_DS016379,seminal vesicle tumor
BMGC_DS05783,BMG_DS016386,Chlamydial epididymitis | Chlamydial epididymitis (disorder)
BMGC_DS05784,BMG_DS016390,scrotum neoplasm
BMGC_DS05785,BMG_DS016406,ovarian epithelial tumor | ovary epithelial cancer
BMGC_DS05786,BMG_DS016421,Adenomyosis | Endometriosis of uterus | Endometriosis of uterus (disorder) | endometriosis of uterus
BMGC_DS05787,BMG_DS016427,"Infertility, Female | Subfertility, Female"
BMGC_DS05788,BMG_DS016464,severe pre-eclampsia
BMGC_DS05789,BMG_DS016537,Plummer disease | Plummer's disease | Toxic adenomatous goiter | Toxic adenomatous goitre | Toxic nodular goiter | Toxic nodular goiter (disorder) | Toxic nodular goitre | Toxic struma nodosa
BMGC_DS05790,BMG_DS016556,Congenital hypothyroidism without goiter | Congenital hypothyroidism without goiter (disorder) | Congenital hypothyroidism without goitre | Congenital hypothyroidism without goitre (disorder) | IGSF1 deficiency syndrome | Permanent congenital hypothyroidism without goitre | congenital nongoitrous hypothyroidism 1 | congenital nongoitrous hypothyroidism 2 | congenital nongoitrous hypothyroidism 3 | congenital nongoitrous hypothyroidism 4 | congenital nongoitrous hypothyroidism 5 | congenital nongoitrous hypothyroidism 6
BMGC_DS05791,BMG_DS016559,"Hypothyroidism, Autoimmune"
BMGC_DS05792,BMG_DS016577,"Hyperthyroxinemia, Familial Dysalbuminemic | hyperthyroxinemia, familial dysalbuminemic"
BMGC_DS05793,BMG_DS016580,C-cell hyperplasia | C-cell hyperplasia of thyroid | C-cell hyperplasia of thyroid (disorder) | Hypersecretion of calcitonin
BMGC_DS05794,BMG_DS016584,Thyroid Dyshormonogenesis 3 | thyroid dyshormonogenesis 3
BMGC_DS05795,BMG_DS016585,Thyroid Dyshormonogenesis 4 | thyroid dyshormonogenesis 4
BMGC_DS05796,BMG_DS016586,Thyroid Dyshormonogenesis 5 | thyroid dyshormonogenesis 5
BMGC_DS05797,BMG_DS016588,Iodine deficiency syndrome | Iodine deficiency syndrome (disorder)
BMGC_DS05798,BMG_DS016589,Congenital Hypothyroidism | Endemic Cretinism | congenital hypothyroidism
BMGC_DS05799,BMG_DS016610,Complications of Diabetes Mellitus | Diabetes Complications
BMGC_DS05800,BMG_DS016620,Transient neonatal diabetes mellitus | Transitory neonatal diabetes mellitus | Transitory neonatal diabetes mellitus (disorder) | transient neonatal diabetes mellitus
BMGC_DS05801,BMG_DS016622,Autosomal dominant diabetes mellitus | Diabetes mellitus autosomal dominant | MODY | MODY - Maturity onset diabetes in youth type 1 | MODY - Maturity onset diabetes in youth type I | Mason-type diabetes | Maturity onset diabetes in youth | Maturity onset diabetes in youth type 1 | Maturity onset diabetes mellitus in young | Maturity onset diabetes mellitus in young (disorder) | NIDDY | maturity-onset diabetes of the young
BMGC_DS05802,BMG_DS016623,"Diabetes mellitus autosomal dominant type II | Diabetes mellitus autosomal dominant type II (disorder) | GCK (glucokinase) monogenic diabetes mellitus | MODY2 (maturity onset diabetes of the young type 2) | Maturity onset diabetes in youth type 2 | Maturity onset diabetes in youth type II | Maturity onset diabetes of the young, type 2 | Maturity onset diabetes of the young, type 2 (disorder) | maturity-onset diabetes of the young type 2"
BMGC_DS05803,BMG_DS016624,Hereditary benign acanthosis nigricans with insulin resistance | Hereditary benign acanthosis nigricans with insulin resistance (disorder) | Insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans | Insulin-resistant acanthosis nigricans type A | insulin-resistance syndrome type A
BMGC_DS05804,BMG_DS016625,AREDYLD Syndrome | AREDYLD syndrome
BMGC_DS05805,BMG_DS016626,"Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus | muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome"
BMGC_DS05806,BMG_DS016627,Multiple synostoses syndrome 1 | multiple synostoses syndrome 1
BMGC_DS05807,BMG_DS016628,Hyperproinsulinaemia | Hyperproinsulinemia | Hyperproinsulinemia (disorder) | hyperproinsulinemia
BMGC_DS05808,BMG_DS016629,"Bangstad syndrome | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (disorder) | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre, and primary gonadal insufficiency"
BMGC_DS05809,BMG_DS016630,"Diabetes, hypogonadism, deafness, intellectual disability syndrome | Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder) | Woodhouse Sakati syndrome | Woodhouse-Sakati syndrome"
BMGC_DS05810,BMG_DS016631,thiamine-responsive megaloblastic anemia syndrome
BMGC_DS05811,BMG_DS016632,Congenital insulin-dependent diabetes mellitus with fatal secretory diarrhea | Congenital insulin-dependent diabetes mellitus with fatal secretory diarrhoea | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | Insulin-dependent diabetes mellitus secretory diarrhea syndrome (disorder) | Insulin-dependent diabetes mellitus secretory diarrhoea syndrome | immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
BMGC_DS05812,BMG_DS016633,Ballinger-Wallace syndrome | Diabetes-deafness syndrome maternally transmitted | MIDD - maternally inherited diabetes and deafness | Maternally inherited diabetes and deafness | Maternally inherited diabetes and deafness (disorder) | Maternally-inherited diabetes and hearing loss | Mitochondrial diabetes | maternally-inherited diabetes and deafness
BMGC_DS05813,BMG_DS016650,Hypoglycaemia due to diabetes mellitus | Hypoglycaemic state due to diabetes mellitus | Hypoglycaemic state in diabetes | Hypoglycemia due to diabetes mellitus | Hypoglycemia due to diabetes mellitus (disorder) | Hypoglycemic state due to diabetes mellitus | Hypoglycemic state in diabetes
BMGC_DS05814,BMG_DS016663,Insulin resistance - type A | Insulin resistance - type A (disorder) | Type A insulin resistance
BMGC_DS05815,BMG_DS016668,Hypoparathyroidism | Idiopathic Hypoparathyroidism
BMGC_DS05816,BMG_DS016669,Hypoparathyroidism - X-linked | X-linked hypoparathyroidism | X-linked hypoparathyroidism (disorder) | familial isolated hypoparathyroidism due to agenesis of parathyroid gland
BMGC_DS05817,BMG_DS016670,Hypoparathyroidism - autosomal dominant | Hypoparathyroidism - autosomal dominant (disorder) | autosomal dominant hypocalcemia 1
BMGC_DS05818,BMG_DS016680,"Panhypopituitarism - X-linked | X-linked panhypopituitarism | X-linked panhypopituitarism (disorder) | panhypopituitarism, X-linked"
BMGC_DS05819,BMG_DS016683,Hypopituitarism | IGHD - Idiopathic growth hormone deficiency | Idiopathic growth hormone deficiency | Idiopathic growth hormone deficiency (disorder) | Idiopathic growth hormone insufficiency | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type IB | isolated growth hormone deficiency type III
BMGC_DS05820,BMG_DS016685,Idiopathic gonadotrophin deficiency | Idiopathic hypogonadotropic hypogonadism | Idiopathic hypogonadotropic hypogonadism (disorder) | hypogonadotropic hypogonadism 7 with or without anosmia
BMGC_DS05821,BMG_DS016688,ACTH deficiency | Adrenocorticotropic hormone (ACTH) deficiency | Adrenocorticotropic hormone (ACTH) deficiency (disorder) | Adrenocorticotropic hormone deficiency | Adrenocorticotropic hormone deficiency (disorder) | Secondary hypoadrenalism | congenital isolated adrenocorticotropic hormone deficiency
BMGC_DS05822,BMG_DS016689,Familial AVP-D (arginine vasopressin deficiency) | Familial arginine vasopressin deficiency | Familial arginine vasopressin deficiency (disorder) | Familial central diabetes insipidus | Familial vasopressin deficiency | neurohypophyseal diabetes insipidus
BMGC_DS05823,BMG_DS016698,Pituitary infarct | Pituitary infarction | Pituitary infarction (disorder) | pituitary gland infarction | pituitary infarct
BMGC_DS05824,BMG_DS016707,congenital hypothalamic hamartoma syndrome
BMGC_DS05825,BMG_DS016734,"3 beta-HSD deficiency | 3 beta-Hydroxysteroid dehydrogenase deficiency | 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) | CAH - 3 beta-dehydrogenase deficiency | Congenital adrenal hyperplasia, type 4 | congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"
BMGC_DS05826,BMG_DS016735,"17 alpha-Hydroxyprogesterone aldolase deficiency | 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) | Defective synthesis of 17-20 desmolase | Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency | Steroid 17,20-lyase deficiency"
BMGC_DS05827,BMG_DS016736,Lipoid congenital adrenal hyperplasia | congenital lipoid adrenal hyperplasia due to STAR deficency
BMGC_DS05828,BMG_DS016740,"Hypoadrenocorticism, Familial | X-linked Adrenal Hypoplasia | X-linked adrenal hypoplasia congenita"
BMGC_DS05829,BMG_DS016743,"Mineralocorticoid Excess Syndrome, Apparent | apparent mineralocorticoid excess | apparent mineralocorticoid excess syndrome"
BMGC_DS05830,BMG_DS016747,Macronodular adrenal hyperplasia | Macronodular adrenal hyperplasia (disorder)
BMGC_DS05831,BMG_DS016766,Androgen deficiency | Defect of testicular androgen synthesis | Defective biosynthesis of testicular androgen | Deficiency of testosterone biosynthesis | Deficiency of testosterone biosynthesis (disorder)
BMGC_DS05832,BMG_DS016777,"Central Precocious Puberty | Puberty, Precocious | central precocious puberty"
BMGC_DS05833,BMG_DS016781,Familial Testotoxicosis | familial male-limited precocious puberty
BMGC_DS05834,BMG_DS016788,Carcinoid crisis | Carcinoid crisis (disorder) | carcinoid crisis
BMGC_DS05835,BMG_DS016790,isolated growth hormone deficiency type IA
BMGC_DS05836,BMG_DS016799,"Amyloid Neuropathies, Familial | Amyloid Polyneuropathy, British Type"
BMGC_DS05837,BMG_DS016801,Familial non-neuropathic amyloidosis | Familial non-neuropathic amyloidosis (disorder) | Nonneuropathic heredofamilial amyloidosis
BMGC_DS05838,BMG_DS016812,(Hypocalcaemia: [neonatal] or [cow's milk]) or (neonatal hypoparathroidism) | (Hypocalcaemia: [neonatal] or [cow's milk]) or (neonatal hypoparathroidism) (disorder) | (Hypocalcemia: [neonatal] or [cow's milk]) or (neonatal hypoparathroidism) | Cow's milk hypocalcaemia | Cow's milk hypocalcemia | Neonatal hypocalcaemia | Neonatal hypocalcaemia (disorder) | Neonatal hypocalcemia | Neonatal hypocalcemia (disorder) | Neonatal hypoparathroidism
BMGC_DS05839,BMG_DS016815,"Hypocalciuric hypercalcemia, familial, type 1 | familial hypocalciuric hypercalcemia 1"
BMGC_DS05840,BMG_DS016817,"hypercalciuria, absorptive, 2"
BMGC_DS05841,BMG_DS016819,Autosomal dominant hypophosphataemic rickets | Autosomal dominant hypophosphatemic rickets | Autosomal dominant hypophosphatemic rickets (disorder) | autosomal dominant hypophosphatemic rickets
BMGC_DS05842,BMG_DS016820,Autosomal recessive hypophosphataemic rickets | Autosomal recessive hypophosphataemic vitamin D refractory rickets | Autosomal recessive hypophosphatemic rickets | Autosomal recessive hypophosphatemic vitamin D refractory rickets | Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder) | autosomal recessive hypophosphatemic rickets
BMGC_DS05843,BMG_DS016821,"Vitamin D-Dependent Rickets, Type 2A | vitamin D-dependent rickets, type 2A"
BMGC_DS05844,BMG_DS016823,"Radiographic finding of vascular calcification | Radiographic finding of vascular calcification (finding) | Vascular calcification | Vascular calcification (disorder) | Vascular calcification, radiographic finding"
BMGC_DS05845,BMG_DS016838,"ALBINISM, OCULOCUTANEOUS, TYPE III | oculocutaneous albinism type 3 | oculocutaneous albinism type III"
BMGC_DS05846,BMG_DS016839,"Nettleship-Falls type ocular albinism | OA1 - X-linked ocular albinism | Ocular albinism, type I | Ocular albinism, type I (disorder) | X linked ocular albinism | X-linked ocular albinism | X-linked ocular albinism, Nettleship type | X-linked recessive ocular albinism"
BMGC_DS05847,BMG_DS016842,dopamine beta hydroxylase deficiency | dopamine beta-hydroxylase deficiency
BMGC_DS05848,BMG_DS016849,Transcobalamin I Deficiency | transcobalamin I deficiency
BMGC_DS05849,BMG_DS016850,Hereditary vitamin B12 deficiency anaemia | TCN2 - Transcobalamin II deficiency | Transcobalamin II deficiency | Transcobalamin II deficiency (disorder) | transcobalamin II deficiency
BMGC_DS05850,BMG_DS016854,"Folate Malabsorption, Hereditary | hereditary folate malabsorption"
BMGC_DS05851,BMG_DS016856,GABA aminotransaminase deficiency | Gamma aminobutyric acid transaminase deficiency
BMGC_DS05852,BMG_DS016864,Complete deficiency of methylmalonyl-CoA mutase | Complete deficiency of methylmalonyl-coenzyme A mutase | Complete deficiency of methylmalonyl-coenzyme A mutase (disorder) | MMUT-gene related complete deficiency of methylmalonyl-coenzyme A mutase | Mutase0 methylmalonic acidaemia | Mutase0 methylmalonic acidemia | Vitamin B12-unresponsive methylmalonic acidaemia type mut0 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | Vitamin B12-unresponsive methylmalonic aciduria type mut0 | vitamin B12-unresponsive methylmalonic acidemia type mut0
BMGC_DS05853,BMG_DS016865,MMUT-gene related partial deficiency of methylmalonyl-coenzyme A mutase | Mutase- methylmalonic acidaemia | Mutase- methylmalonic acidemia | Partial deficiency of methylmalonyl-CoA mutase | Partial deficiency of methylmalonyl-coenzyme A mutase | Partial deficiency of methylmalonyl-coenzyme A mutase (disorder) | Vitamin B12-unresponsive methylmalonic acidaemia type mut- | Vitamin B12-unresponsive methylmalonic acidemia type mut- | vitamin B12-unresponsive methylmalonic acidemia type mut-
BMGC_DS05854,BMG_DS016870,"3-@METHYLGLUTACONIC ACIDURIA, TYPE I | 3-methylglutaconic aciduria type 1"
BMGC_DS05855,BMG_DS016872,Deficiency of mevalonate kinase | Deficiency of mevalonate kinase (disorder) | Mevalonate kinase deficiency | mevalonate kinase deficiency | mevalonic aciduria
BMGC_DS05856,BMG_DS016874,Cytosolic acetoacetyl-CoA thiolase deficiency | Cytosolic acetoacetyl-coenzyme A thiolase deficiency | Cytosolic acetoacetyl-coenzyme A thiolase deficiency (disorder) | acetyl-CoA acetyltransferase-2 deficiency
BMGC_DS05857,BMG_DS016875,3-Hydroxyisobutyric aciduria | 3-Hydroxyisobutyric aciduria (disorder) | 3-hydroxyisobutyric aciduria
BMGC_DS05858,BMG_DS016876,3-hydroxyisobutyryl-CoA hydrolase deficiency | Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
BMGC_DS05859,BMG_DS016877,Fish odor syndrome | Fish odour syndrome | Trimethylaminuria | Trimethylaminuria (disorder) | trimethylaminuria
BMGC_DS05860,BMG_DS016884,GLYCOGEN STORAGE DISEASE Ic | glycogen storage disease Ic
BMGC_DS05861,BMG_DS016886,"Generalized glycogen storage disease of infants | Glycogen storage disease, type II | Glycogen storage disease, type II (disorder)"
BMGC_DS05862,BMG_DS016888,"Alpha-1,4-glucosidase acid deficiency, late onset | Glycogen storage disease due to acid maltase deficiency, late-onset | Glycogen storage disease due to acid maltase deficiency, late-onset (disorder) | Glycogen storage disease type II late onset | Glycogenosis type II, late onset | Pompe disease, late onset | glycogen storage disease due to acid maltase deficiency, late-onset"
BMGC_DS05863,BMG_DS016898,D-Glyceric aciduria | D-Glyceric aciduria (disorder) | D-glyceric aciduria
BMGC_DS05864,BMG_DS016901,Fumarase deficiency | Fumarate hydratase deficiency | Fumarate hydratase deficiency (disorder) | fumarase deficiency | fumaric aciduria
BMGC_DS05865,BMG_DS016907,Depletion of mitochondrial DNA | Depletion of mitochondrial deoxyribonucleic acid | Depletion of mitochondrial deoxyribonucleic acid (disorder) | mitochondrial DNA depletion syndrome
BMGC_DS05866,BMG_DS016908,Butyryl-CoA dehydrogenase deficiency | Deficiency of butyryl dehydrogenase | Deficiency of butyryl-CoA dehydrogenase | Deficiency of butyryl-CoA dehydrogenase (disorder) | Deficiency of unsaturated acyl-CoA reductase | short chain acyl-CoA dehydrogenase deficiency
BMGC_DS05867,BMG_DS016909,Pearson syndrome | Pearson's marrow-pancreas syndrome
BMGC_DS05868,BMG_DS016912,Carnitine transporter deficiency | Carnitine uptake defect | Primary carnitine deficiency | Renal carnitine transport defect | Renal carnitine transport defect (disorder) | Systemic carnitine deficiency | systemic primary carnitine deficiency disease
BMGC_DS05869,BMG_DS016913,Carnitine palmitoyl transferase 2 deficiency | carnitine palmitoyltransferase II deficiency
BMGC_DS05870,BMG_DS016914,Carnitine-Acylcarnitine Translocase Deficiency | carnitine-acylcarnitine translocase deficiency
BMGC_DS05871,BMG_DS016915,Succinyl-CoA:3-oxoacid CoA transferase deficiency | succinyl-CoA:3-ketoacid CoA transferase deficiency
BMGC_DS05872,BMG_DS016916,MLYCD-gene related malonic aciduria | Malonic aciduria | Malonic aciduria (disorder) | malonic aciduria
BMGC_DS05873,BMG_DS016919,Inosine Triphosphatase Deficiency | inosine triphosphatase deficiency
BMGC_DS05874,BMG_DS016920,Thiopurine S methyltranferase deficiency | poor metabolism of thiopurines | thiopurine S-methyltransferase deficiency
BMGC_DS05875,BMG_DS016922,Dihydropyrimidinase deficiency | Dihydropyrimidinase deficiency (disorder) | Dihydrouracil amidohydrolase deficiency | dihydropyrimidinase deficiency | dihydropyrimidinuria
BMGC_DS05876,BMG_DS016943,"Hunter syndrome, severe form | Hunter's syndrome, severe form | Hunter's syndrome, severe form (disorder) | Mucopolysaccharidosis type II severe form | mucopolysaccharidosis type 2, severe form"
BMGC_DS05877,BMG_DS016944,"Hunter syndrome, mild form | Hunter's syndrome, mild form | Hunter's syndrome, mild form (disorder) | Mucopolysaccharidosis type II mild form"
BMGC_DS05878,BMG_DS016947,"Infantile mannosidosis | Mannosidosis infantile onset | Mannosidosis, severe form | Mannosidosis, type I | Mannosidosis, type I (disorder) | alpha-mannosidosis, infantile form"
BMGC_DS05879,BMG_DS016950,Sialic Acid Storage Disease | Sialuria | Sialuria (disorder) | sialuria
BMGC_DS05880,BMG_DS016952,Coproporphyria | Coproporphyria (disorder)
BMGC_DS05881,BMG_DS016955,Harderoporphyria | Homozygous hereditary coproporphyria | Homozygous hereditary coproporphyria (disorder) | harderoporphyria
BMGC_DS05882,BMG_DS016960,d-bifunctional protein deficiency
BMGC_DS05883,BMG_DS016962,Glutaric Aciduria III | glutaric acidemia type 3
BMGC_DS05884,BMG_DS016968,Homozygous Familial Hypercholesterolemia | homozygous familial hypercholesterolemia
BMGC_DS05885,BMG_DS016969,Familial hypercholesterolaemia - heterozygous | Familial hypercholesterolemia - heterozygous | Familial hypercholesterolemia - heterozygous (disorder)
BMGC_DS05886,BMG_DS016970,Cholesteryl Ester Transfer Protein Deficiency | hyperalphalipoproteinemia | hyperalphalipoproteinemia 1
BMGC_DS05887,BMG_DS016975,Fish-Eye Disease | Lecithin Cholesterol Acyltransferase Deficiency | fish eye disease
BMGC_DS05888,BMG_DS016976,Apolipoprotein A-I deficiency | Apolipoprotein A-I deficiency (disorder)
BMGC_DS05889,BMG_DS016978,sitosterolemia | sitosterolemia 1
BMGC_DS05890,BMG_DS016988,Deficiency of pantothenic acid | Pantothenic acid deficiency | Pantothenic acid deficiency (disorder) | Unspecified undernutrition
BMGC_DS05891,BMG_DS017012,Superficial bacterial infection of skin | Superficial bacterial infection of skin (disorder)
BMGC_DS05892,BMG_DS017036,Complement component 5 deficiency | complement component 5 deficiency
BMGC_DS05893,BMG_DS017039,Guttate Psoriasis | guttate psoriasis
BMGC_DS05894,BMG_DS017041,Acute generalised pustular psoriasis | Acute generalized pustular psoriasis | Generalised pustular psoriasis | Generalised pustular psoriasis of von Zumbusch | Generalized pustular psoriasis | Generalized pustular psoriasis (disorder) | Generalized pustular psoriasis of von Zumbusch | generalized pustular psoriasis | pustular psoriasis 14
BMGC_DS05895,BMG_DS017042,keratosis follicularis spinulosa decalvans
BMGC_DS05896,BMG_DS017045,(Dermatographic urticaria) or (factitial urticaria) | (Dermatographic urticaria) or (factitial urticaria) (disorder) | Autographism | Dermagraphy | Dermatographia | Dermatographic urticaria | Dermatographic urticaria (disorder) | Dermatographism | Dermatography | Dermographia | Dermographic urticaria | Dermographism | Ebbecke's reaction | Factitial urticaria | Skin writing | Urticaria factitia | dermatographia
BMGC_DS05897,BMG_DS017046,FCAS - familial cold autoinflammatory syndrome | FCU - familial cold urticaria | Familial cold autoinflammatory syndrome | Familial cold urticaria | Familial cold urticaria (disorder) | familial cold autoinflammatory syndrome
BMGC_DS05898,BMG_DS017049,isolated familial wooly hair disorder
BMGC_DS05899,BMG_DS017055,"milia, multiple eruptive"
BMGC_DS05900,BMG_DS017057,Idiopathic atrophic blanche | Livedoid vasculitis | Livedoid vasculitis (disorder) | Livedoid vasculopathy | White atrophy | livedoid vasculitis | livedoid vasculopathy
BMGC_DS05901,BMG_DS017058,cherry hemangioma | senile angioma
BMGC_DS05902,BMG_DS017060,Capillary Leak Syndrome | capillary leak syndrome
BMGC_DS05903,BMG_DS017062,"hereditary sclerosing poikiloderma, Weary type"
BMGC_DS05904,BMG_DS017063,Facial Dermatoses | Nodular Elastoidosis
BMGC_DS05905,BMG_DS017067,Flynn Aird syndrome | Flynn-Aird syndrome
BMGC_DS05906,BMG_DS017068,Naegeli syndrome | Naegeli-Franceschetti-Jadassohn syndrome
BMGC_DS05907,BMG_DS017070,wooly hair nevus
BMGC_DS05908,BMG_DS017071,cutaneous mastocytoma | solitary mastocytoma of the skin
BMGC_DS05909,BMG_DS017092,Cutaneous livedo with nodules | Cutaneous polyarteritis nodosa | Cutaneous polyarteritis nodosa (disorder) | Nodular livedo | cutaneous polyarteritis nodosa
BMGC_DS05910,BMG_DS017103,Rheumatoid arthritis with systemic vasculitis | Rheumatoid arthritis with systemic vasculitis (disorder) | Rheumatoid arthritis with vasculitis | Rheumatoid arthritis with vasculitis (disorder) | Rheumatoid vasculitis | Systemic rheumatoid vasculitis | Systemic rheumatoid vasculitis (disorder)
BMGC_DS05911,BMG_DS017106,Hypocomplementaemic urticarial vasculitis | Hypocomplementaemic vasculitis | Hypocomplementemic urticarial vasculitis | Hypocomplementemic urticarial vasculitis (disorder) | Hypocomplementemic vasculitis | hypocomplementemic urticarial vasculitis
BMGC_DS05912,BMG_DS017150,chondrodysplasia
BMGC_DS05913,BMG_DS017158,Tetanus neonatorum | Tetanus neonatorum (disorder) | tetanus neonatorum
BMGC_DS05914,BMG_DS017175,Diarrhea due to Pseudomonas pyocyanea | Diarrhoea due to Pseudomonas pyocyanea | Pseudomonas gastrointestinal tract infection | Pseudomonas gastrointestinal tract infection (disorder) | Pseudomonas: [GIT infection] or [pyocyanea diarrhea] | Pseudomonas: [GIT infection] or [pyocyanea diarrhoea] | Pseudomonas: [GIT infection] or [pyocyanea diarrhoea] (disorder)
BMGC_DS05915,BMG_DS017201,Helicobacter-associated gastritis | Helicobacter-associated gastritis (disorder)
BMGC_DS05916,BMG_DS017208,Clostridioides difficile infection | Clostridium difficile infection | Clostridium difficile infection (disorder) | Infection caused by Clostridioides difficile | Infection caused by Clostridioides difficile (disorder)
BMGC_DS05917,BMG_DS017218,Cyclosporiasis | Cyclosporiasis (disorder) | cyclosporiasis
BMGC_DS05918,BMG_DS017221,Infection due to Methicillin resistant Staphylococcus aureus | MRSA (Methicillin resistant Staphylococcus aureus) infection | Methicillin resistant Staphylococcus aureus infection | Methicillin resistant Staphylococcus aureus infection (disorder) | methicillin-resistant staphylococcus aureus infectious disease
BMGC_DS05919,BMG_DS017222,Bacterial infection caused by Klebsiella pneumoniae | Friedlander bacillus infection | Friedlander's bacillus infection | Friedlander's bacillus infection (disorder)
BMGC_DS05920,BMG_DS017270,ENL - Erythema nodosum leprosum | Erythema nodosum leprosum | Erythema nodosum leprosum (disorder)
BMGC_DS05921,BMG_DS017285,Streptococcal sore throat with scarlatina | Streptococcal sore throat with scarlatina (disorder) | scarlet fever
BMGC_DS05922,BMG_DS017296,Clostridium (& [perfringens] or [welchii]: [infection] or [gas gangrene] | Clostridium (& [perfringens] or [welchii]: [infection] or [gas gangrene] (disorder) | Clostridium perfringens infection | Gas gangrene caused by clostridium perfringens | Gas gangrene caused by clostridium perfringens (disorder) | Gas gangrene caused by clostridium welchii
BMGC_DS05923,BMG_DS017322,Legionnaires' Disease | Pontiac Fever | Pontiac fever
BMGC_DS05924,BMG_DS017325,Streptococcal toxic shock syndrome | Streptococcal toxic shock syndrome (disorder) | streptococcal toxic-shock syndrome
BMGC_DS05925,BMG_DS017417,HPV (Human papillomavirus) disease | HPV (Human papillomavirus) infection | Human papilloma virus infection | Human papilloma virus infection (disorder) | Human papillomavirus infection | Human papillomavirus infection (disorder) | Papovavirus infection subgroup A | Papovavirus infection subgroup A (disorder) | human papilloma virus infection
BMGC_DS05926,BMG_DS017469,Gonococcal synovitis | Gonococcal synovitis &/or tenosynovitis | Gonococcal synovitis &/or tenosynovitis (disorder) | Gonococcal synovitis or tenosynovitis | Gonococcal synovitis or tenosynovitis (disorder) | Gonococcal teno-synovitis | Gonococcal tenosynovitis | gonococcal synovitis
BMGC_DS05927,BMG_DS017482,Anal warts | Perianal warts | Perianal warts (disorder) | Warts: [perianal] or [anal] | Warts: [perianal] or [anal] (disorder)
BMGC_DS05928,BMG_DS017498,Acute HIV infection | Acute human immunodeficiency virus infection | Acute human immunodeficiency virus infection (disorder) | Acute human immunodeficiency virus seroconversion illness
BMGC_DS05929,BMG_DS017500,HIV Wasting Syndrome | HIV wasting syndrome
BMGC_DS05930,BMG_DS017503,American tick typhus | American tick typhus (disorder) | Brazilian spotted fever | RMSF - Rocky Mountain spotted fever | Rocky Mountain spotted fever | Rocky Mountain spotted fever (disorder) | Rocky Mountain tick fever | Sao Paulo fever
BMGC_DS05931,BMG_DS017559,Tertiary lesion of yaws | Tertiary lesion of yaws (disorder) | Tertiary stage of yaws | Tertiary yaws | tertiary lesion of yaws
BMGC_DS05932,BMG_DS017560,Bone and joint yaws lesions | Bone and/or joint yaws lesions | Bone and/or joint yaws lesions (disorder) | early yaws
BMGC_DS05933,BMG_DS017580,Candidiasis of mouth and esophagus | Candidiasis of mouth and oesophagus | Candidiasis: [oral and esophagus] or [pharyngeal] | Candidiasis: [oral and oesophagus] or [pharyngeal] | Candidiasis: [oral and oesophagus] or [pharyngeal] (disorder) | Candidosis of pharynx | Monilia of mouth and esophagus | Monilia of mouth and oesophagus | Oral candidiasis | Oral moniliasis | Pharyngeal candidiasis | Pharyngeal candidiasis (disorder) | Pharyngeal thrush | Thrush of mouth and esophagus | Thrush of mouth and oesophagus
BMGC_DS05934,BMG_DS017602,Candidiasis of intestine | Gastrointestinal candidiasis | Gastrointestinal candidiasis (disorder)
BMGC_DS05935,BMG_DS017646,Trichosporonosis | Trichosporonosis (disorder) | trichosporonosis
BMGC_DS05936,BMG_DS017647,Disseminated Trichosporonosis | Trichosporonosis | trichosporonosis
BMGC_DS05937,BMG_DS017666,Entomophthoramycosis | Entomophthoramycosis (disorder) | Infection by Entomophthora | Zygomycosis
BMGC_DS05938,BMG_DS017792,"Nystagmus, Pathologic | See-Saw Nystagmus"
BMGC_DS05939,BMG_DS017802,"Bullous retinoschisis | Bullous retinoschisis (disorder) | Peripheral retinoschisis, retinal cysts | bullous retinoschisis"
BMGC_DS05940,BMG_DS017803,Vitreoretinal degeneration | Vitreoretinal degeneration (disorder) | vitreoretinal degeneration
BMGC_DS05941,BMG_DS017805,Choroidal degeneration | Choroidal degeneration (disorder) | Choroidal sclerosis | Choroidal sclerosis (finding) | choroidal sclerosis
BMGC_DS05942,BMG_DS017808,flying phobia
BMGC_DS05943,BMG_DS017824,"Ventricular tachycardia, polymorphic | Ventricular tachycardia, polymorphic (disorder) | polymorphic ventricular tachycardia"
BMGC_DS05944,BMG_DS017826,adrenal medulla cancer
BMGC_DS05945,BMG_DS017827,carcinoma ex pleomorphic adenoma | pleomorphic adenoma carcinoma
BMGC_DS05946,BMG_DS017829,Spinal intradural arachnoid cysts | spinal intradural arachnoid cysts
BMGC_DS05947,BMG_DS017833,coloboma of eye lens
BMGC_DS05948,BMG_DS017834,cerulean cataract
BMGC_DS05949,BMG_DS017836,cornea plana
BMGC_DS05950,BMG_DS017837,megalocornea
BMGC_DS05951,BMG_DS017838,aniridia 1
BMGC_DS05952,BMG_DS017839,aniridia 2
BMGC_DS05953,BMG_DS017841,Peters anomaly
BMGC_DS05954,BMG_DS017851,patent ductus venosus
BMGC_DS05955,BMG_DS017853,cor triatriatum dexter
BMGC_DS05956,BMG_DS017859,"atrial septal defect, ostium secundum type"
BMGC_DS05957,BMG_DS017860,"atrial septal defect, sinus venosus type"
BMGC_DS05958,BMG_DS017863,mitral atresia disorder
BMGC_DS05959,BMG_DS017879,Dilatation of left cardiac ventricle | Dilatation of left cardiac ventricle (disorder) | Left cardiac ventricular dilatation
BMGC_DS05960,BMG_DS017883,(Right hypoplastic heart syndrome) or (pseudotruncus arteriosus) | (Right hypoplastic heart syndrome) or (pseudotruncus arteriosus) (disorder) | Pseudotruncus arteriosus | Right hypoplastic heart syndrome | Right hypoplastic heart syndrome (disorder) | hypoplastic right heart syndrome
BMGC_DS05961,BMG_DS017884,pulmonary atresia-intact ventricular septum syndrome
BMGC_DS05962,BMG_DS017885,pulmonary atresia with ventricular septal defect
BMGC_DS05963,BMG_DS017889,aorta atresia
BMGC_DS05964,BMG_DS017891,PPS - Peripheral pulmonary stenosis | Peripheral pulmonary artery stenosis | Peripheral pulmonary artery stenosis (disorder)
BMGC_DS05965,BMG_DS017894,"aortic aneurysm, familial thoracic 1"
BMGC_DS05966,BMG_DS017905,laryngomalacia
BMGC_DS05967,BMG_DS017916,"aganglionosis, total intestinal"
BMGC_DS05968,BMG_DS017923,phimosis
BMGC_DS05969,BMG_DS017925,atresia of urethra
BMGC_DS05970,BMG_DS017929,femoral agenesis/hypoplasia
BMGC_DS05971,BMG_DS017931,"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 | autosomal recessive osteopetrosis 3"
BMGC_DS05972,BMG_DS017932,isolated congenital digital clubbing
BMGC_DS05973,BMG_DS017933,cutis marmorata telangiectatica congenita
BMGC_DS05974,BMG_DS017934,"comedones, familial Dyskeratotic"
BMGC_DS05975,BMG_DS017949,middle ear cancer | neoplasm of middle ear
BMGC_DS05976,BMG_DS017952,ethmoidal sinus benign neoplasm | ethmoidal sinus neoplasm
BMGC_DS05977,BMG_DS017954,frontal sinus benign neoplasm | frontal sinus neoplasm
BMGC_DS05978,BMG_DS017956,sphenoidal sinus benign neoplasm | sphenoidal sinus neoplasm
BMGC_DS05979,BMG_DS017958,glottis neoplasm
BMGC_DS05980,BMG_DS017959,supraglottis neoplasm
BMGC_DS05981,BMG_DS017960,subglottis benign neoplasm | subglottis neoplasm
BMGC_DS05982,BMG_DS017963,gastric fundus carcinoma
BMGC_DS05983,BMG_DS017965,gastric body carcinoma
BMGC_DS05984,BMG_DS017967,small intestine benign neoplasm | small intestine neoplasm
BMGC_DS05985,BMG_DS017970,rectosigmoid junction neoplasm
BMGC_DS05986,BMG_DS017972,juvenile polyposis syndrome
BMGC_DS05987,BMG_DS017974,liver cancer
BMGC_DS05988,BMG_DS017975,intrahepatic cholangiocarcinoma
BMGC_DS05989,BMG_DS017976,liver sarcoma
BMGC_DS05990,BMG_DS017977,liver angiosarcoma
BMGC_DS05991,BMG_DS017981,biliary tract benign neoplasm | extrahepatic bile duct neoplasm
BMGC_DS05992,BMG_DS017983,ampulla of Vater benign neoplasm | ampulla of vater neoplasm
BMGC_DS05993,BMG_DS017986,trachea adenoid cystic carcinoma | tracheal adenoid cystic carcinoma
BMGC_DS05994,BMG_DS017987,trachea squamous cell carcinoma
BMGC_DS05995,BMG_DS017988,lung large cell carcinoma
BMGC_DS05996,BMG_DS017989,lung clear cell carcinoma
BMGC_DS05997,BMG_DS017990,lung giant cell carcinoma
BMGC_DS05998,BMG_DS017992,lung adenoma
BMGC_DS05999,BMG_DS017993,malignant mesothelioma
BMGC_DS06000,BMG_DS017996,clear cell squamous cell skin carcinoma
BMGC_DS06001,BMG_DS017997,acantholytic squamous cell skin carcinoma
BMGC_DS06002,BMG_DS017999,Ferguson-Smith tumor
BMGC_DS06003,BMG_DS018000,squamous cell papilloma of skin | squamous cell skin papilloma
BMGC_DS06004,BMG_DS018002,epidermal appendage tumor
BMGC_DS06005,BMG_DS018006,pilar sheath acanthoma
BMGC_DS06006,BMG_DS018007,follicular infundibulum tumor
BMGC_DS06007,BMG_DS018008,Birt-Hogg-Dube Syndrome | Birt-Hogg-Dube syndrome | Birt-Hogg-Dube syndrome 1
BMGC_DS06008,BMG_DS018009,fibroepithelial basal cell carcinoma | skin fibroepithelial basal cell carcinoma
BMGC_DS06009,BMG_DS018010,cutaneous adenocystic carcinoma
BMGC_DS06010,BMG_DS018011,cutaneous mucoepidermoid carcinoma
BMGC_DS06011,BMG_DS018013,eccrine mixed tumor of skin
BMGC_DS06012,BMG_DS018016,dermis tumor
BMGC_DS06013,BMG_DS018017,cutaneous fibrous histiocytoma
BMGC_DS06014,BMG_DS018018,verruciform xanthoma of skin
BMGC_DS06015,BMG_DS018020,cutaneous granular cell tumor | skin granular cell tumor
BMGC_DS06016,BMG_DS018021,cutaneous ganglioneuroma
BMGC_DS06017,BMG_DS018022,leiomyoma cutis
BMGC_DS06018,BMG_DS018024,cutaneous leiomyosarcoma
BMGC_DS06019,BMG_DS018026,blue rubber bleb nevus
BMGC_DS06020,BMG_DS018027,tufted angioma
BMGC_DS06021,BMG_DS018028,angiokeratoma
BMGC_DS06022,BMG_DS018030,skin angiosarcoma
BMGC_DS06023,BMG_DS018032,skin glomus tumor
BMGC_DS06024,BMG_DS018036,Bazex-Dupre-Christol syndrome
BMGC_DS06025,BMG_DS018037,malignant peritoneal mesothelioma | peritoneal mesothelioma
BMGC_DS06026,BMG_DS018038,pericardial mesothelioma
BMGC_DS06027,BMG_DS018041,benign lipomatous neoplasm | lipoma
BMGC_DS06028,BMG_DS018042,breast scirrhous carcinoma | scirrhous breast carcinoma
BMGC_DS06029,BMG_DS018043,hereditary breast carcinoma
BMGC_DS06030,BMG_DS018044,breast malignant phyllodes tumor | malignant breast phyllodes tumor
BMGC_DS06031,BMG_DS018046,breast giant fibroadenoma
BMGC_DS06032,BMG_DS018047,breast fibroadenoma
BMGC_DS06033,BMG_DS018048,malignant epithelial tumor of ovary
BMGC_DS06034,BMG_DS018049,endometrioid ovary carcinoma | ovarian endometrioid adenocarcinoma
BMGC_DS06035,BMG_DS018052,undifferentiated ovarian carcinoma
BMGC_DS06036,BMG_DS018053,ovarian cystadenoma
BMGC_DS06037,BMG_DS018054,mucinous ovarian cystadenoma
BMGC_DS06038,BMG_DS018057,malignant germ cell tumor of ovary | malignant ovarian germ cell neoplasm
BMGC_DS06039,BMG_DS018058,choriocarcinoma of ovary
BMGC_DS06040,BMG_DS018059,immature ovarian teratoma | immature teratoma of ovary
BMGC_DS06041,BMG_DS018060,ovarian embryonal carcinoma
BMGC_DS06042,BMG_DS018061,dysgerminoma of ovary
BMGC_DS06043,BMG_DS018062,ovarian endodermal sinus tumor | ovarian yolk sac tumor
BMGC_DS06044,BMG_DS018064,endometrium carcinoma in situ
BMGC_DS06045,BMG_DS018065,intravenous leiomyomatosis
BMGC_DS06046,BMG_DS018066,cervical adenosquamous carcinoma
BMGC_DS06047,BMG_DS018069,epididymal neoplasm
BMGC_DS06048,BMG_DS018070,multilocular clear cell renal cell carcinoma
BMGC_DS06049,BMG_DS018071,kidney sarcoma
BMGC_DS06050,BMG_DS018072,kidney oncocytoma | renal oncocytoma
BMGC_DS06051,BMG_DS018073,kidney hemangiopericytoma
BMGC_DS06052,BMG_DS018074,renal pelvis benign neoplasm | renal pelvis neoplasm
BMGC_DS06053,BMG_DS018077,choroid plexus cancer | choroid plexus carcinoma
BMGC_DS06054,BMG_DS018079,spinal cord oligodendroglioma
BMGC_DS06055,BMG_DS018080,pituitary adenocarcinoma | pituitary carcinoma
BMGC_DS06056,BMG_DS018081,growth hormone secreting pituitary adenoma
BMGC_DS06057,BMG_DS018082,TSH producing pituitary tumor | TSH-secreting pituitary adenoma
BMGC_DS06058,BMG_DS018086,optic nerve glioma
BMGC_DS06059,BMG_DS018087,optic nerve sheath meningioma
BMGC_DS06060,BMG_DS018089,malignant neoplasm of acoustic nerve
BMGC_DS06061,BMG_DS018090,lacrimal gland adenoid cystic carcinoma
BMGC_DS06062,BMG_DS018091,lacrimal gland adenocarcinoma
BMGC_DS06063,BMG_DS018092,lacrimal gland carcinoma ex pleomorphic adenoma | mixed lacrimal gland cancer
BMGC_DS06064,BMG_DS018093,orbit rhabdomyosarcoma
BMGC_DS06065,BMG_DS018094,cavernous hemangioma of orbit
BMGC_DS06066,BMG_DS018095,conjunctival squamous cell carcinoma
BMGC_DS06067,BMG_DS018096,malignant conjunctival melanoma
BMGC_DS06068,BMG_DS018098,cornea squamous cell carcinoma
BMGC_DS06069,BMG_DS018099,malignant cornea melanoma
BMGC_DS06070,BMG_DS018100,iris cancer
BMGC_DS06071,BMG_DS018101,iris melanoma | malignant iris melanoma
BMGC_DS06072,BMG_DS018103,malignant ciliary body melanoma
BMGC_DS06073,BMG_DS018105,malignant choroid melanoma
BMGC_DS06074,BMG_DS018107,adrenal cortex cancer | malignant tumor of adrenal cortex
BMGC_DS06075,BMG_DS018110,chronic eosinophilic leukemia
BMGC_DS06076,BMG_DS018111,spleen angiosarcoma
BMGC_DS06077,BMG_DS018113,lung hilum cancer
BMGC_DS06078,BMG_DS018114,pericardium cancer
BMGC_DS06079,BMG_DS018115,epicardium cancer
BMGC_DS06080,BMG_DS018116,myocardium cancer
BMGC_DS06081,BMG_DS018117,endocardium cancer
BMGC_DS06082,BMG_DS018118,gastroesophageal cancer
BMGC_DS06083,BMG_DS018119,intestinal cancer
BMGC_DS06084,BMG_DS018120,colorectal cancer | large intestine cancer
BMGC_DS06085,BMG_DS018121,malignant exocrine pancreas neoplasm
BMGC_DS06086,BMG_DS018122,malignant breast melanoma
BMGC_DS06087,BMG_DS018123,malignant dermis tumor
BMGC_DS06088,BMG_DS018124,vascular cancer
BMGC_DS06089,BMG_DS018125,broad ligament malignant neoplasm
BMGC_DS06090,BMG_DS018126,round ligament malignant neoplasm
BMGC_DS06091,BMG_DS018127,thalamic cancer | thalamic neoplasm
BMGC_DS06092,BMG_DS018129,cerebral ventricle cancer
BMGC_DS06093,BMG_DS018130,Kaposi's sarcoma
BMGC_DS06094,BMG_DS018131,Kaposi's sarcoma
BMGC_DS06095,BMG_DS018132,chest wall lymphoma | malignant neoplasm of chest wall
BMGC_DS06096,BMG_DS018133,metastatic malignant neoplasm in the colon
BMGC_DS06097,BMG_DS018138,nasal cavity carcinoma in situ
BMGC_DS06098,BMG_DS018146,skin carcinoma in situ
BMGC_DS06099,BMG_DS018153,benign neoplasm of nasal cavity | nasal cavity benign neoplasm
BMGC_DS06100,BMG_DS018160,benign neoplasm of large intestine
BMGC_DS06101,BMG_DS018166,skin papilloma
BMGC_DS06102,BMG_DS018167,skin lipoma
BMGC_DS06103,BMG_DS018172,spinal cord lipoma
BMGC_DS06104,BMG_DS018177,spinal meningioma
BMGC_DS06105,BMG_DS018194,"Epilepsy, Akinetic | Epilepsy, Generalized"
BMGC_DS06106,BMG_DS018223,Congenital malformation syndromes associated with short stature | Congenital malformation syndromes associated with short stature (disorder)
BMGC_DS06107,BMG_DS018225,Non-Syphilitic Argyll-Robertson Pupil | Pupil Disorders
BMGC_DS06108,BMG_DS018229,Acute exacerbation of asthma | Acute exacerbation of asthma (disorder) | Asthma NOS | Asthma attack | Asthma attack (& NOS) | Asthma attack (& NOS) (disorder) | Asthma attack (disorder) | Asthma attack NOS | Asthma: [NOS] or [attack] | Asthma: [NOS] or [attack] (disorder)
BMGC_DS06109,BMG_DS018352,bronchus cancer
BMGC_DS06110,BMG_DS018353,urinary system cancer
BMGC_DS06111,BMG_DS018354,central nervous system cancer
BMGC_DS06112,BMG_DS018363,"Hypoparathyroidism, unspecified | Other hypoparathyroidism | autosomal dominant hypocalcemia"
BMGC_DS06113,BMG_DS018365,"Disorders of the pituitary hormone system, unspecified | Other disorders of pituitary gland | hypogonadotropic hypogonadism 24 without anosmia"
BMGC_DS06114,BMG_DS018368,"Bartter disease type 1 | Bartter disease type 2 | Bartter disease type 3 | Bartter disease type 4a | Bartter disease type 4b | Bartter disease type 5 | Hyperaldosteronism, unspecified | Other hyperaldosteronism"
BMGC_DS06115,BMG_DS018379,"Disorders of branchedchain amino acid metabolism, unspecified | Other disorders of branched-chain amino-acid metabolism | branched-chain keto acid dehydrogenase kinase deficiency | methylmalonic acidemia cblA type | methylmalonic acidemia cblB type | methylmalonic acidemia due to transcobalamin receptor defect"
BMGC_DS06116,BMG_DS018384,"Gaucher's disease perinatal lethal | Gaucher's disease type I | Gaucher's disease type II | Gaucher's disease type III | Metabolic disorders, unspecified | Niemann-Pick disease type A | Niemann-Pick disease type B | Niemann-Pick disease type C1 | Niemann-Pick disease type C2 | Other sphingolipidosis | PCWH syndrome | atypical Gaucher's disease due to saposin c deficiency | hypomyelinating leukodystrophy 2 | hypomyelinating leukodystrophy 3 | hypomyelinating leukodystrophy 4 | hypomyelinating leukodystrophy 6 | hypomyelinating leukodystrophy 9 | leukoencephalopathy with vanishing white matter"
BMGC_DS06117,BMG_DS018443,Other cardiomyopathies | Other specified cardiomyopathy | arrhythmogenic right ventricular dysplasia 10 | arrhythmogenic right ventricular dysplasia 11 | arrhythmogenic right ventricular dysplasia 12 | arrhythmogenic right ventricular dysplasia 13 | arrhythmogenic right ventricular dysplasia 3 | arrhythmogenic right ventricular dysplasia 4 | arrhythmogenic right ventricular dysplasia 5 | arrhythmogenic right ventricular dysplasia 6 | arrhythmogenic right ventricular dysplasia 8 | arrhythmogenic right ventricular dysplasia 9
BMGC_DS06118,BMG_DS018446,Brugada syndrome 1 | Brugada syndrome 9 | Other specified cardiac arrhythmias | Other specified diseases of the circulatory system
BMGC_DS06119,BMG_DS018518,"Diseases of liver, unspecified | Other specified diseases of liver | congenital bile acid synthesis defect"
BMGC_DS06120,BMG_DS018582,Listerial endocarditis | Listerial endocarditis (disorder)
BMGC_DS06121,BMG_DS018590,"Aplastic anemia, idiopathic | idiopathic aplastic anemia"
BMGC_DS06122,BMG_DS018595,Irritable bowel syndrome with diarrhea | Irritable bowel syndrome with diarrhea (disorder) | Irritable bowel syndrome with diarrhoea
BMGC_DS06123,BMG_DS018617,"Diabetes mellitus, other specified type | Other specified diabetes mellitus with unspecified complications | Other specified diabetes mellitus with unspecified complications (disorder) | Wolfram syndrome 1"
BMGC_DS06124,BMG_DS018663,"Cerebral Cryptococcosis | Cryptococcal meningitis | Meningitis, Cryptococcal"
BMGC_DS06125,BMG_DS018683,phobic disorder
BMGC_DS06126,BMG_DS018684,Nonorganic Insomnia | Sleep Initiation and Maintenance Disorders
BMGC_DS06127,BMG_DS018713,Wernicke-Korsakoff syndrome
BMGC_DS06128,BMG_DS018726,Fetal Hypoxia
BMGC_DS06129,BMG_DS018736,dermoid cyst of skin
BMGC_DS06130,BMG_DS018737,skin sensitivity to sun
BMGC_DS06131,BMG_DS018740,amelanotic skin melanoma | skin amelanotic melanoma
BMGC_DS06132,BMG_DS018750,microinvasive gastric cancer
BMGC_DS06133,BMG_DS018751,gastric lymphoma
BMGC_DS06134,BMG_DS018752,anal margin carcinoma
BMGC_DS06135,BMG_DS018753,intestinal neuroendocrine tumor G1
BMGC_DS06136,BMG_DS018755,anal melanoma | malignant anus melanoma
BMGC_DS06137,BMG_DS018756,rectum malignant melanoma
BMGC_DS06138,BMG_DS018757,spinal cord astrocytoma
BMGC_DS06139,BMG_DS018758,brain glioblastoma | brain glioblastoma multiforme
BMGC_DS06140,BMG_DS018759,scrotum squamous cell carcinoma
BMGC_DS06141,BMG_DS018761,gestational choriocarcinoma
BMGC_DS06142,BMG_DS018762,Bartholin's gland carcinoma | bartholin gland carcinoma
BMGC_DS06143,BMG_DS018765,tongue squamous cell carcinoma
BMGC_DS06144,BMG_DS018766,neoplasm of pericardium | pericardium cancer
BMGC_DS06145,BMG_DS018768,external ear cancer
BMGC_DS06146,BMG_DS018769,Complex Endometrial Hyperplasia | Endometrial Hyperplasia | complex endometrial hyperplasia | endometrial hyperplasia | obsolete endometrial hyperplasia
BMGC_DS06147,BMG_DS018770,Atypical Endometrial Hyperplasia | Endometrial Hyperplasia | atypical endometrial hyperplasia | endometrial hyperplasia | obsolete endometrial hyperplasia
BMGC_DS06148,BMG_DS018771,neurilemmoma of the fifth cranial nerve | trigeminal schwannoma
BMGC_DS06149,BMG_DS018775,intracranial meningioma
BMGC_DS06150,BMG_DS018776,Central Nervous System Cysts | central nervous system cyst
BMGC_DS06151,BMG_DS018781,cerebellar pilocytic astrocytoma | pilocytic astrocytoma of cerebellum
BMGC_DS06152,BMG_DS018782,malignant pineal area germ cell neoplasm
BMGC_DS06153,BMG_DS018783,meninges hemangiopericytoma
BMGC_DS06154,BMG_DS018784,central nervous system melanocytic neoplasm
BMGC_DS06155,BMG_DS018787,Richter syndrome | Richter's syndrome
BMGC_DS06156,BMG_DS018789,HCL-V | hairy cell leukemia variant
BMGC_DS06157,BMG_DS018790,precursor B-cell acute lymphoblastic leukemia
BMGC_DS06158,BMG_DS018791,juvenile myelomonocytic leukemia
BMGC_DS06159,BMG_DS018794,testicular lymphoma
BMGC_DS06160,BMG_DS018795,lung lymphangioleiomyomatosis | lymphangioleiomyomatosis
BMGC_DS06161,BMG_DS018796,Non-tuberculous mycobacterial pneumonia | Non-tuberculous mycobacterial pneumonia (disorder)
BMGC_DS06162,BMG_DS018797,Congenital disorder of glycosylation type 1A | PMM2-congenital disorder of glycosylation
BMGC_DS06163,BMG_DS018798,"Congenital Disorder Of Glycosylation, Type I-IIX | congenital disorder of glycosylation, type i/IIx"
BMGC_DS06164,BMG_DS018799,sarcomatoid squamous cell skin carcinoma
BMGC_DS06165,BMG_DS018800,plantar verrucous skin carcinoma
BMGC_DS06166,BMG_DS018805,bladder sarcoma
BMGC_DS06167,BMG_DS018806,breast sarcoma
BMGC_DS06168,BMG_DS018807,breast lymphoma
BMGC_DS06169,BMG_DS018820,Hypoglossal Nerve Diseases | Hypoglossal Neuralgia
BMGC_DS06170,BMG_DS018821,Cutaneous herpes simplex infection | Herpes simplex infection of skin | Herpes simplex infection of skin (disorder) | Scrum pox
BMGC_DS06171,BMG_DS018825,Female pelvic cellulitis | Female pelvic cellulitis (disorder)
BMGC_DS06172,BMG_DS018839,Diverticulitis of gastrointestinal tract | Diverticulitis of gastrointestinal tract (disorder)
BMGC_DS06173,BMG_DS018843,Arrhythmogenic Right Ventricular Dysplasia | arrhythmogenic right ventricular cardiomyopathy
BMGC_DS06174,BMG_DS018844,acute asthma
BMGC_DS06175,BMG_DS018850,prediabetes syndrome
BMGC_DS06176,BMG_DS018854,vulva cancer
BMGC_DS06177,BMG_DS018856,anaerobic meningitis
BMGC_DS06178,BMG_DS018857,Benign shuddering attacks | Shuddering attacks | Shuddering attacks (disorder) | benign shuddering attacks
BMGC_DS06179,BMG_DS018863,Acute endocarditis | Acute endocarditis (disorder) | endocarditis
BMGC_DS06180,BMG_DS018864,carotid artery occlusion
BMGC_DS06181,BMG_DS018867,Pneumonia due to other specified bacteria | Pneumonia due to other streptococci
BMGC_DS06182,BMG_DS018868,anaerobic pneumonia
BMGC_DS06183,BMG_DS018872,Chronic left-sided ulcerative colitis | Chronic left-sided ulcerative colitis (disorder) | ulcerative colitis
BMGC_DS06184,BMG_DS018879,Urethral intrinsic sphincter deficiency | Urethral intrinsic sphincter deficiency (finding) | urethral intrinsic sphincter deficiency
BMGC_DS06185,BMG_DS018881,pigmentation disease
BMGC_DS06186,BMG_DS018883,inflamed seborrheic keratosis
BMGC_DS06187,BMG_DS018884,"Leukoencephalitis, Acute Hemorrhagic | Necrotizing Hemorrhagic Encephalomyelitis"
BMGC_DS06188,BMG_DS018885,Bell Palsy | Bell's palsy
BMGC_DS06189,BMG_DS018886,"Hypoaldosteronism | Hypoaldosteronism, Hyporeninemic | hyperkalemic renal tubular acidosis"
BMGC_DS06190,BMG_DS018888,(Other vitamin deficiency) or (avitaminosis) | (Other vitamin deficiency) or (avitaminosis) (disorder) | Avitaminosis | Hypovitaminosis | Other vitamin deficiency | Vitamin deficiency | Vitamin deficiency (disorder)
BMGC_DS06191,BMG_DS018889,Amaurosis | Amaurosis (disorder) | Blindness
BMGC_DS06192,BMG_DS018890,Dengue Shock Syndrome | Severe Dengue | dengue shock syndrome
BMGC_DS06193,BMG_DS018892,congenital epulis
BMGC_DS06194,BMG_DS018893,Congestive Ophthalmopathy | Graves Ophthalmopathy | Graves ophthalmopathy
BMGC_DS06195,BMG_DS018894,Creutzfeldt-Jakob Syndrome | New Variant Creutzfeldt-Jakob Disease | variant Creutzfeldt-Jakob disease
BMGC_DS06196,BMG_DS018895,Premenstrual Syndrome | Premenstrual Tension | premenstrual tension
BMGC_DS06197,BMG_DS018896,prostate cancer
BMGC_DS06198,BMG_DS018897,Gronblad-Strandberg Syndrome | Pseudoxanthoma Elasticum
BMGC_DS06199,BMG_DS018898,IgA Vasculitis | Purpura Hemorrhagica
BMGC_DS06200,BMG_DS018899,Barre-Lieou syndrome | Posterior Cervical Sympathetic Syndrome
BMGC_DS06201,BMG_DS018902,"Hibernation, Myocardial | Myocardial Stunning"
BMGC_DS06202,BMG_DS018903,gingival overgrowth
BMGC_DS06203,BMG_DS018904,Branchio-Oculo-Facial Syndrome | Branchio-Oto-Renal Syndrome | branchiooculofacial syndrome
BMGC_DS06204,BMG_DS018905,skull base cancer | skull base neoplasm
BMGC_DS06205,BMG_DS018906,"Epilepsy, Rolandic | benign epilepsy with centrotemporal spikes | childhood epilepsy with centrotemporal spikes"
BMGC_DS06206,BMG_DS018908,hematologic cancer | hematopoietic and lymphoid cell neoplasm
BMGC_DS06207,BMG_DS018912,Endotoxaemia | Endotoxemia | Endotoxemia (disorder) | Endotoxic shock | Endotoxic shock (disorder) | Gram-negative septic shock | Gram-negative shock
BMGC_DS06208,BMG_DS018914,"Pancreatitis, Alcoholic | alcoholic pancreatitis"
BMGC_DS06209,BMG_DS018915,Shoulder Impingement Syndrome | shoulder impingement syndrome
BMGC_DS06210,BMG_DS018918,Capillary Leak Syndrome | Clinical Capillary Leak Syndrome
BMGC_DS06211,BMG_DS018919,"Esophageal Hernia | Hernia, Hiatal | hiatus hernia"
BMGC_DS06212,BMG_DS018921,Tietz syndrome
BMGC_DS06213,BMG_DS018926,Cowden syndrome | Lhermitte-Duclos disease
BMGC_DS06214,BMG_DS018929,erythropoietin polycythemia
BMGC_DS06215,BMG_DS018933,Cervical Sympathetic Dystrophy | Reflex Sympathetic Dystrophy
BMGC_DS06216,BMG_DS018944,Infarction of testis | Infarction of testis (disorder) | Testicular infarct | Testicular infarction | testicular infarct
BMGC_DS06217,BMG_DS018947,Suppurative lymphadenitis | Suppurative lymphadenopathy | Suppurative lymphadenopathy (disorder) | suppurative lymphadenitis
BMGC_DS06218,BMG_DS018953,Cardiac sarcoidosis | Cardiac sarcoidosis (disorder) | cardiac sarcoidosis
BMGC_DS06219,BMG_DS018958,tracheomalacia
BMGC_DS06220,BMG_DS018964,Corneal erosion | Corneal erosion (disorder) | Superficial ulcer of cornea
BMGC_DS06221,BMG_DS018965,Cystic Fibrosis | Pulmonary Cystic Fibrosis
BMGC_DS06222,BMG_DS018970,Mucositis following radiation therapy | Mucositis following radiation therapy (disorder) | Radiation-induced mucositis | Ulcerative mucositis due to radiation
BMGC_DS06223,BMG_DS018974,malignant mesothelioma
BMGC_DS06224,BMG_DS018975,Benign pemphigus | Benign pemphigus (disorder) | Pemphigoid | Pemphigoid (disorder)
BMGC_DS06225,BMG_DS018976,"Acrodermatitis continua of Hallopeau | Acrodermatitis continua of Hallopeau (disorder) | Acrodermatitis perstans | Acropustulosis | Chronic palmoplantar pustular psoriasis | Dermatitis repens | PPP - Palmoplantar pustulosis | Palmoplantar pustular psoriasis | Palmoplantar pustulosis | Pustular acrodermatitis | Pustular psoriasis of palms and soles | Pustular psoriasis of palms and soles (disorder) | Pustulosis palmaris et plantaris | Recalcitrant pustular eruption of palms and soles | psoriasis 14, pustular"
BMGC_DS06226,BMG_DS018979,Necrobiosis Lipoidica | Necrobiosis Lipoidica Diabeticorum
BMGC_DS06227,BMG_DS018987,"Anomalous atrioventricular excitation | Anomalous atrioventricular excitation (disorder) | Conduction disorders, unspecified | Wolff-Parkinson-White syndrome"
BMGC_DS06228,BMG_DS018988,Hypomelia hypotrichosis facial haemangioma syndrome | Hypomelia hypotrichosis facial hemangioma syndrome | Hypomelia-hypotrichosis-facial haemangioma syndrome | Hypomelia-hypotrichosis-facial hemangioma syndrome | Pseudothalidomide syndrome | Robert's syndrome | Roberts syndrome | Roberts-SC phocomelia syndrome | Roberts-SC phocomelia syndrome (disorder)
BMGC_DS06229,BMG_DS018989,Asymptomatic periapical periodontitis | Asymptomatic periapical periodontitis (disorder) | CAP - chronic apical periodontitis | Chronic apical periodontitis | Chronic periapical periodontitis | Chronic periradicular periodontitis | chronic apical periodontitis
BMGC_DS06230,BMG_DS018990,Hypertrophy of tongue papillae | Hypertrophy of tongue papillae (disorder) | hypertrophy of tongue papillae
BMGC_DS06231,BMG_DS018996,Bronzed cirrhosis | Bronzed diabetes | Familial haemochromatosis | Familial hemochromatosis | Haemochromatosis | Hemochromatosis | Hemochromatosis (disorder) | Hereditary haemochromatosis | Hereditary haemochromatosis (disorder) | Hereditary hemochromatosis | Hereditary hemochromatosis (disorder) | Idiopathic haemochromatosis | Idiopathic hemochromatosis | Iron storage disease | Pigmentary cirrhosis of liver | Primary haemochromatosis | Primary hemochromatosis | hereditary hemochromatosis | von Recklinghausen-Appelbaum disease | von Recklinghausen-Applebaum disease
BMGC_DS06232,BMG_DS018998,Calculus of kidney | Kidney calculus | Kidney calculus (& [staghorn]) | Kidney calculus (& [staghorn]) (disorder) | Kidney stone | Kidney stone (disorder) | Nephrolith | Nephrolithiasis | Nephrolithiasis (disorder) | Renal calculus | Renal stone | Staghorn calculus | nephrolithiasis
BMGC_DS06233,BMG_DS019001,Cauda Equina Syndrome | Cauda equina syndrome | cauda equina syndrome
BMGC_DS06234,BMG_DS019003,"Hemiplegia | Hemiplegia, Infantile | hemiplegia"
BMGC_DS06235,BMG_DS019004,CMT - Charcot-Marie-Tooth disease | Charcot-Marie-Tooth disease | Charcot-Marie-Tooth disease type 2 | HMSN | HMSN - Hereditary motor and sensory neuropathy | HSMN | HSMN - Hereditary sensory and motor neuropathy | Hereditary motor and sensory neuropathy | Hereditary motor and sensory neuropathy (disorder) | Hereditary peripheral neuropathy | Hereditary peripheral neuropathy (disorder) | Hereditary sensorimotor neuropathy | Hereditary sensory and motor neuropathy | Hereditary sensory-motor neuropathy | Peroneal muscular atrophy
BMGC_DS06236,BMG_DS019009,Severe combined immunodeficiency due to adenosine deaminase deficiency
BMGC_DS06237,BMG_DS019023,Herpes simplex | Herpes simplex (disorder) | Herpes simplex complex | Herpes simplex infection | Herpes simplex viral infection | Herpes simplex without mention of complication
BMGC_DS06238,BMG_DS019024,Measles | Measles (disorder) | Measles without mention of complication | Morbilli | Rubeola
BMGC_DS06239,BMG_DS019028,Angiostrongyliasis | angiostrongyliasis
BMGC_DS06240,BMG_DS019036,extranodal nasal NK/T cell lymphoma
BMGC_DS06241,BMG_DS019037,ovarian carcinosarcoma
BMGC_DS06242,BMG_DS019064,Non-infective meningitis | Non-infective meningitis (disorder)
BMGC_DS06243,BMG_DS019099,Encephalitis | Rasmussen Syndrome
BMGC_DS06244,BMG_DS019118,"Cerebellar Ataxia, Early Onset | Spinocerebellar Degenerations"
BMGC_DS06245,BMG_DS019123,"Cerebellar Ataxia, Late Onset | Spinocerebellar Degenerations"
BMGC_DS06246,BMG_DS019124,Progressive cerebellar ataxia | Progressive cerebellar ataxia (disorder)
BMGC_DS06247,BMG_DS019135,"Muscular Atrophy, Spinal, Type II | Spinal Muscular Atrophies of Childhood | intermediate spinal muscular atrophy | spinal muscular atrophy, type II"
BMGC_DS06248,BMG_DS019136,"Bulbar Palsy, Progressive | Childhood Progressive Bulbar Palsy"
BMGC_DS06249,BMG_DS019137,"Distal Spinal Muscular Atrophy | Muscular Atrophy, Spinal | distal hereditary motor neuropathy"
BMGC_DS06250,BMG_DS019141,"Muscular Atrophy, Spinal | Oculopharyngeal Spinal Muscular Atrophy"
BMGC_DS06251,BMG_DS019142,"Bulbospinal Neuronopathy | Muscular Atrophy, Spinal | bulbospinal muscular atrophy"
BMGC_DS06252,BMG_DS019145,Madras motor neuron disease | Madras-type motor neurone disease | Madras-type motor neurone disease (disorder)
BMGC_DS06253,BMG_DS019148,Amyotrophic Lateral Sclerosis | Amyotrophic Lateral Sclerosis With Dementia
BMGC_DS06254,BMG_DS019150,Complicated hereditary spastic paraplegia | Complicated hereditary spastic paraplegia (disorder) | complex hereditary spastic paraplegia
BMGC_DS06255,BMG_DS019152,Troyer syndrome | Troyer syndrome (disorder)
BMGC_DS06256,BMG_DS019153,"Dementia, Vascular | Vascular Dementia, Acute Onset"
BMGC_DS06257,BMG_DS019154,"Dementia, Vascular | Subcortical Vascular Dementia"
BMGC_DS06258,BMG_DS019160,multiple system atrophy
BMGC_DS06259,BMG_DS019162,"Huntington Disease | Huntington Disease, Late Onset"
BMGC_DS06260,BMG_DS019164,Choreoacanthocytosis | Choreoacanthocytosis (disorder) | Neuroacanthocytosis | chorea-acanthocytosis | choreaacanthocytosis | neuroacanthocytosis
BMGC_DS06261,BMG_DS019170,Benign Hereditary Chorea | Chorea | hereditary progressive chorea without dementia
BMGC_DS06262,BMG_DS019174,paroxysmal dystonia
BMGC_DS06263,BMG_DS019176,Cerebral symmetric calcification | Cerebrovascular ferrocalcinosis | Fahr disease | Fahr syndrome | Fahr's syndrome | Fahr's syndrome (disorder) | Idiopathic nonarteriosclerotic cerebrovascular calcification | basal ganglia calcification
BMGC_DS06264,BMG_DS019177,Aicardi-Goutieres syndrome
BMGC_DS06265,BMG_DS019179,Dystonia Disorders | Dystonic Disorders | dystonia
BMGC_DS06266,BMG_DS019182,"Genetic torsion dystonia | Idiopathic familial dystonia | Idiopathic familial dystonia (disorder) | Primary dystonia, unspecified | X-linked dystonia-parkinsonism | dopa-responsive dystonia | dystonia 21 | dystonia 25 | dystonia 27 | familial idiopathic torsion dystonia | generalized dystonia | myoclonic dystonia 11 | torsion dystonia 1 | torsion dystonia 13 | torsion dystonia 17 | torsion dystonia 2 | torsion dystonia 4 | torsion dystonia 6"
BMGC_DS06267,BMG_DS019185,Idiopathic non-familial dystonia | Idiopathic non-familial dystonia (disorder) | acquired idiopathic torsion dystonia | generalized dystonia
BMGC_DS06268,BMG_DS019196,Essential Tremor | Familial Tremor
BMGC_DS06269,BMG_DS019204,Opsoclonus-Myoclonus Syndrome | opsoclonus-myoclonus syndrome
BMGC_DS06270,BMG_DS019213,Hashimoto's encephalitis | steroid-responsive encephalopathy associated with autoimmune thyroiditis
BMGC_DS06271,BMG_DS019232,"Multiple Sclerosis, Acute Relapsing | Multiple Sclerosis, Relapsing-Remitting"
BMGC_DS06272,BMG_DS019233,"Multiple Sclerosis, Chronic Progressive | chronic progressive multiple sclerosis"
BMGC_DS06273,BMG_DS019234,"Multiple Sclerosis, Chronic Progressive | Multiple Sclerosis, Progressive Relapsing | progressive relapsing multiple sclerosis"
BMGC_DS06274,BMG_DS019235,"Extrapontine Myelinolysis | Myelinolysis, Central Pontine"
BMGC_DS06275,BMG_DS019239,"Epilepsy, Frontal Lobe | Frontal Epilepsy, Benign, Childhood"
BMGC_DS06276,BMG_DS019240,"Epilepsy, Benign Psychomotor, Childhood | Epilepsy, Temporal Lobe"
BMGC_DS06277,BMG_DS019243,"Childhood Benign Occipital Epilepsy | Epilepsies, Partial"
BMGC_DS06278,BMG_DS019244,"Epilepsies, Partial | Panayiotopoulos Syndrome | self-limited epilepsy with autonomic seizures"
BMGC_DS06279,BMG_DS019247,"Amygdalo-Hippocampal Epilepsy | Epilepsies, Partial"
BMGC_DS06280,BMG_DS019249,"Epilepsies, Partial | Rhinencephalic Epilepsy"
BMGC_DS06281,BMG_DS019250,"Epilepsy, Lateral Temporal | Epilepsy, Temporal Lobe"
BMGC_DS06282,BMG_DS019251,"Epilepsy, Frontal Lobe | Epilepsy, Supplementary Motor"
BMGC_DS06283,BMG_DS019252,"Epilepsy, Cingulate | Epilepsy, Frontal Lobe"
BMGC_DS06284,BMG_DS019254,"Epilepsy, Frontal Lobe | Epilepsy, Opercular"
BMGC_DS06285,BMG_DS019257,"Epilepsies, Partial | Occipital Lobe Epilepsy"
BMGC_DS06286,BMG_DS019259,"Benign Neonatal Epilepsy, Nonfamilial | Epilepsy, Benign Neonatal | benign idiopathic neonatal seizures"
BMGC_DS06287,BMG_DS019260,"Early Childhood Epilepsy, Myoclonic | Epilepsies, Myoclonic"
BMGC_DS06288,BMG_DS019262,"Cryptogenic Infantile Spasms | Spasms, Infantile | West syndrome"
BMGC_DS06289,BMG_DS019263,"Spasms, Infantile | Symptomatic Infantile Spasms | West syndrome"
BMGC_DS06290,BMG_DS019266,"Epilepsies, Myoclonic | Myoclonic Astatic Epilepsy | myoclonic-astatic epilepsy"
BMGC_DS06291,BMG_DS019267,"Epilepsies, Myoclonic | Myoclonic Absence Epilepsy | epilepsy with myoclonic absences"
BMGC_DS06292,BMG_DS019268,Early infantile epileptic encephalopathy with suppression bursts | Early infantile epileptic encephalopathy with suppression bursts (disorder) | Ohtahara syndrome | developmental and epileptic encephalopathy
BMGC_DS06293,BMG_DS019275,"Epilepsy, Reflex | Reflex Epilepsy, Photosensitive | photosensitive epilepsy"
BMGC_DS06294,BMG_DS019279,tactile epilepsy
BMGC_DS06295,BMG_DS019283,"Epilepsy, Reflex | Immersion Related Epilepsy"
BMGC_DS06296,BMG_DS019286,Complex Partial Status Epilepticus | Status Epilepticus
BMGC_DS06297,BMG_DS019287,Headache Disorders | headache disorder
BMGC_DS06298,BMG_DS019291,Cluster Headache | Episodic Cluster Headache
BMGC_DS06299,BMG_DS019295,Atypical Cluster Headache | Cluster Headache
BMGC_DS06300,BMG_DS019306,"Delayed Sleep Phase Syndrome | Sleep Disorders, Circadian Rhythm | circadian rhythm sleep disorder, delayed sleep phase type"
BMGC_DS06301,BMG_DS019309,Sleep Bruxism | Sleep-Related Bruxism | bruxism
BMGC_DS06302,BMG_DS019312,isolated congenital anosmia
BMGC_DS06303,BMG_DS019316,"Trigeminal Neuralgia | Trigeminal Neuralgia, Idiopathic"
BMGC_DS06304,BMG_DS019317,Secondary Trigeminal Neuralgia | Trigeminal Neuralgia
BMGC_DS06305,BMG_DS019322,Acute inflammatory demyelinating polyneuropathy | Miller Fisher Syndrome | Miller Fisher syndrome
BMGC_DS06306,BMG_DS019327,"HMSN VI | Hereditary motor and sensory neuropathy type VI | Hereditary motor and sensory neuropathy with optic atrophy | Hereditary motor and sensory neuropathy with optic atrophy (disorder) | Hereditary motor-sensory neuropathy with optic atrophy | Hereditary motor-sensory neuropathy, type VI | Hereditary sensory and motor neuropathy, type VI | hereditary motor and sensory neuropathy type 6"
BMGC_DS06307,BMG_DS019328,"Charcot-Marie-Tooth disease X-linked dominant 1 | Charcot-Marie-Tooth disease, X-linked, 1"
BMGC_DS06308,BMG_DS019330,Hereditary liability to pressure palsies | Hereditary liability to pressure palsies (disorder) | Tomaculous neuropathy | hereditary neuropathy with liability to pressure palsies
BMGC_DS06309,BMG_DS019334,"Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | chronic inflammatory demyelinating polyneuritis | chronic inflammatory demyelinating polyradiculoneuropathy"
BMGC_DS06310,BMG_DS019350,Diabetic Asymmetric Polyneuropathy | Diabetic Neuropathies
BMGC_DS06311,BMG_DS019362,"Polyneuropathies | Polyneuropathy, Critical Illness | critical illness polyneuropathy"
BMGC_DS06312,BMG_DS019399,Autonomic Nervous System Diseases | Segmental Autonomic Dysfunction
BMGC_DS06313,BMG_DS019411,FIM - Familial infantile myasthenia | Familial infantile myasthenia | Familial infantile myasthenia (disorder) | congenital myasthenic syndrome 6
BMGC_DS06314,BMG_DS019420,Neuromuscular Junction Diseases | Neuromuscular Junction Toxic Disorders
BMGC_DS06315,BMG_DS019430,Anterior Cerebral Circulation Infarction | Brain Infarction
BMGC_DS06316,BMG_DS019457,Encephalomalacia | Multicystic Encephalomalacia
BMGC_DS06317,BMG_DS019465,"Cerebral Palsy | Cerebral Palsy, Dystonic-Rigid"
BMGC_DS06318,BMG_DS019468,"CAMRQ syndrome | Cerebellar ataxia, intellectual disability, dysequilibrium syndrome | DES - dysequilibrium syndrome | Disequilibrium syndrome | Dysequilibrium syndrome | Dysequilibrium syndrome (disorder) | Non-progressive cerebellar ataxia, intellectual disability syndrome | Uner Tan syndrome | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome | cerebellar ataxia, intellectual disability, and dysequilibrium"
BMGC_DS06319,BMG_DS019469,"Cerebral Palsy | Cerebral Palsy, Atonic | hypotonic cerebral palsy"
BMGC_DS06320,BMG_DS019474,"Coma, Post-Head Injury"
BMGC_DS06321,BMG_DS019477,psychogenic polydipsia
BMGC_DS06322,BMG_DS019493,Malignant otitis externa caused by Pseudomonas aeruginosa | Malignant otitis externa caused by Pseudomonas aeruginosa (disorder) | malignant otitis externa caused by Pseudomonas aeruginosa
BMGC_DS06323,BMG_DS019512,(Stenosis of external auditory canal) or (congenital stricture: [external auditory canal] or [osseous meatus]) | (Stenosis of external auditory canal) or (congenital stricture: [external auditory canal] or [osseous meatus]) (disorder) | Congenital stricture of external auditory canal | Congenital stricture of osseous meatus | Stenosis of ear canal | Stenosis of external auditory canal | Stenosis of external auditory canal (disorder)
BMGC_DS06324,BMG_DS019515,Chronic myringitis | Chronic tympanitis | Chronic tympanitis (disorder) | chronic tympanitis
BMGC_DS06325,BMG_DS019520,Acute mucoid otitis media | Acute mucoid otitis media (disorder) | Acute non-suppurative otitis media - mucoid | Blue drum syndrome | blue drum syndrome
BMGC_DS06326,BMG_DS019521,Acute non-suppurative otitis media - bloody | Acute non-suppurative otitis media - sanguinous | Acute non-suppurative otitis media with haemotympanum | Acute non-suppurative otitis media with hemotympanum | Acute sanguineous otitis media | Acute sanguineous otitis media (disorder) | Acute sanguinous otitis media | acute sanguinous otitis media
BMGC_DS06327,BMG_DS019552,Recurrent Vestibular Neuritis | Vestibular Neuronitis
BMGC_DS06328,BMG_DS019558,"Tinnitus | Tinnitus, Noise Induced"
BMGC_DS06329,BMG_DS019607,(Chronic tonsillitis) or (chronic adenoiditis) | (Chronic tonsillitis) or (chronic adenoiditis) (disorder) | Chronic adenoiditis | Chronic adenoiditis (disorder) | Chronic tonsillitis | adenoiditis
BMGC_DS06330,BMG_DS019628,Congenital laryngeal abductor palsy | Congenital laryngeal abductor palsy (disorder) | Congenital laryngeal abductor paralysis | Gerhardt syndrome | laryngeal abductor paralysis
BMGC_DS06331,BMG_DS019629,Congenital laryngeal adductor palsy | Congenital laryngeal adductor palsy (disorder) | Congenital laryngeal adductor paralysis | laryngeal adductor paralysis
BMGC_DS06332,BMG_DS019636,laryngeal papillomatosis
BMGC_DS06333,BMG_DS019642,Migratory thrombophlebitis | Thrombophlebitis migrans | Thrombophlebitis migrans (disorder) | Trousseau's syndrome
BMGC_DS06334,BMG_DS019647,lymphatic malformation
BMGC_DS06335,BMG_DS019649,Lipedema | Lipedema (disorder) | Lipoedema
BMGC_DS06336,BMG_DS019669,Deficiency of phosphotriose isomerase | Deficiency of triosephosphate mutase | TPI - Thiose phosphate isomerase deficiency | Triose phosphate isomerase deficiency | Triose phosphate isomerase deficiency (disorder)
BMGC_DS06337,BMG_DS019672,Blood group deletion syndrome | Blood group deletion syndrome (disorder) | McLeod neuroacanthocytosis syndrome | McLeod syndrome
BMGC_DS06338,BMG_DS019689,SGD - Specific granule deficiency | Specific granule deficiency | Specific granule deficiency (disorder) | specific granule deficiency
BMGC_DS06339,BMG_DS019690,Myeloperoxidase Deficiency | myeloperoxidase deficiency
BMGC_DS06340,BMG_DS019708,Hypoplasminogenaemia | Hypoplasminogenemia | Hypoplasminogenemia (disorder) | Plasminogen deficiency | plasminogen deficiency type I
BMGC_DS06341,BMG_DS019710,Thrombophilia | Thrombophilia (disorder) | thrombophilia
BMGC_DS06342,BMG_DS019711,Protein C Deficiency | protein C deficiency
BMGC_DS06343,BMG_DS019712,Heparin cofactor II deficiency | Heparin cofactor II deficiency (disorder) | heparin cofactor 2 deficiency | heparin cofactor II deficiency
BMGC_DS06344,BMG_DS019719,Thromboxane synthetase deficiency | Thromboxane synthetase deficiency (disorder) | platelet-type bleeding disorder 14
BMGC_DS06345,BMG_DS019732,ITP - immune thrombocytopenic purpura | Idiopathic thrombocytopenic purpura | Immune thrombocytopenic purpura | Immune thrombocytopenic purpura (disorder) | autoimmune thrombocytopenic purpura
BMGC_DS06346,BMG_DS019737,Chronic congestive splenomegaly | Chronic congestive splenomegaly (disorder) | chronic congestive splenomegaly
BMGC_DS06347,BMG_DS019749,Cerebral sarcoidosis | Cerebral sarcoidosis (disorder) | cerebral sarcoidosis | neurosarcoidosis
BMGC_DS06348,BMG_DS019757,Primary immune deficiency disorder | Primary immune deficiency disorder (disorder) | Primary immunodeficiency | inborn error of immunity
BMGC_DS06349,BMG_DS019760,"Hyper-IgM Immunodeficiency Syndrome, Type 1 | X-linked hyper IgM syndrome | hyper-IgM syndrome type 1"
BMGC_DS06350,BMG_DS019761,Hyperimmunoglobulinemia D | Mevalonate Kinase Deficiency | hyperimmunoglobulinemia D with periodic fever | mevalonic aciduria
BMGC_DS06351,BMG_DS019763,Selective IgE deficiency | Selective immunoglobulin E deficiency | Selective immunoglobulin E deficiency (disorder) | selective IgE deficiency disease
BMGC_DS06352,BMG_DS019764,Selective IgD deficiency | Selective immunoglobulin D deficiency | Selective immunoglobulin D deficiency (disorder) | selective IgD deficiency disease
BMGC_DS06353,BMG_DS019778,Secretory Component Deficiency | secretory component deficiency
BMGC_DS06354,BMG_DS019799,Leukocyte adhesion deficiency type 1 | leukocyte adhesion deficiency 1
BMGC_DS06355,BMG_DS019800,"Congenital disorder of glycosylation, type 2C | congenital disorder of glycosylation type IIc | leukocyte adhesion deficiency type II"
BMGC_DS06356,BMG_DS019801,Tuftsin Deficiency | Tuftsin deficiency
BMGC_DS06357,BMG_DS019805,Glutathione synthetase deficiency | Glutathione synthetase deficiency (disorder) | Gluthathione synthetase deficiency | Pyroglutamicaciduria | glutathione synthetase deficiency with 5-oxoprolinuria
BMGC_DS06358,BMG_DS019806,Gluthathione peroxidase deficiency | Gluthathione peroxidase deficiency (disorder) | gluthathione peroxidase deficiency
BMGC_DS06359,BMG_DS019808,Classical complement pathway abnormality | Classical complement pathway abnormality (disorder) | immunodeficiency due to a classical component pathway complement deficiency
BMGC_DS06360,BMG_DS019820,Properdin deficiency | Properdin deficiency disease | Properdin deficiency disease (disorder) | X-linked properdin deficiency
BMGC_DS06361,BMG_DS019822,Complement Factor D Deficiency | recurrent Neisseria infections due to factor D deficiency
BMGC_DS06362,BMG_DS019823,Terminal component deficiency | Terminal component deficiency (disorder) | immunodeficiency due to a late component of complement deficiency
BMGC_DS06363,BMG_DS019833,C1 esterase inhibitor deficiency - type 1 | Hereditary C1 esterase inhibitor deficiency - deficient factor | Hereditary C1 esterase inhibitor deficiency - deficient factor (disorder) | Hereditary angio-oedema - type 1 | Hereditary angioedema - type 1 | Hereditary angioneurotic edema - type 1 | Hereditary angioneurotic oedema - type 1
BMGC_DS06364,BMG_DS019834,C1 esterase inhibitor deficiency - type 2 | Hereditary C1 esterase inactivity | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor (disorder) | Hereditary angio-oedema - type 2 | Hereditary angioedema - type 2 | Hereditary angioneurotic edema - type 2 | Hereditary angioneurotic oedema - type 2 | hereditary angioedema type 2
BMGC_DS06365,BMG_DS019835,Complement Factor H Deficiency | complement factor H deficiency
BMGC_DS06366,BMG_DS019840,Carboxypeptidase N Deficiency | carboxypeptidase N deficiency
BMGC_DS06367,BMG_DS019846,"Immunodeficiency syndrome, variable | immunodeficiency-centromeric instability-facial anomalies syndrome"
BMGC_DS06368,BMG_DS019849,Nijmegen Breakage Syndrome | Nijmegen breakage syndrome
BMGC_DS06369,BMG_DS019852,Chediak-Higashi-like syndrome | Griscelli syndrome | Griscelli syndrome with immunodeficiency | Hypopigmentation-immunodeficiency disease | Hypopigmentation-immunodeficiency disease (disorder) | Partial albinism with immunodeficiency
BMGC_DS06370,BMG_DS019858,Other diseases of hard tissues of teeth
BMGC_DS06371,BMG_DS019859,anodontia | tooth agenesis
BMGC_DS06372,BMG_DS019864,amelogenesis imperfecta type 1
BMGC_DS06373,BMG_DS019865,"Amelogenesis Imperfecta, Type IB | amelogenesis imperfecta type 1B"
BMGC_DS06374,BMG_DS019866,amelogenesis imperfecta type 2
BMGC_DS06375,BMG_DS019867,"Amelogenesis imperfecta - hypomaturation - autosomal dominant - hypoplastic with taurodontism | Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism | Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism (disorder)"
BMGC_DS06376,BMG_DS019868,"Amelogenesis Imperfecta, Type III | amelogenesis imperfecta type 3 | hypocalcified amelogenesis imperfecta"
BMGC_DS06377,BMG_DS019870,dentinogenesis imperfecta type 3
BMGC_DS06378,BMG_DS019871,"Dentin dysplasia, type 1 | dentin dysplasia type I"
BMGC_DS06379,BMG_DS019879,Tooth substance loss | Tooth surface loss | Tooth surface loss (disorder) | enamel erosion
BMGC_DS06380,BMG_DS019898,Hereditary fibrous enlargement of gingiva | Hereditary gingival fibromatosis | Hereditary gingival fibromatosis (disorder) | gingival fibromatosis | hereditary gingival fibromatosis
BMGC_DS06381,BMG_DS019931,autosomal dominant prognathism
BMGC_DS06382,BMG_DS019957,commissural lip pits
BMGC_DS06383,BMG_DS019965,"Colitis, Microscopic | microscopic colitis"
BMGC_DS06384,BMG_DS019966,"Colitis, Lymphocytic | lymphocytic colitis"
BMGC_DS06385,BMG_DS019967,Neutropenic colitis | Neutropenic colitis (disorder)
BMGC_DS06386,BMG_DS019972,Ulcer of anus | Ulcer of anus and rectum | ulcer of anus and rectum
BMGC_DS06387,BMG_DS019991,Postoperative ileus | Postoperative ileus (disorder)
BMGC_DS06388,BMG_DS020017,Acute hepatitis C | Acute hepatitis C (disorder)
BMGC_DS06389,BMG_DS020020,Chronic viral hepatitis B with delta-agent | Chronic viral hepatitis B with hepatitis D | Chronic viral hepatitis B with hepatitis D (disorder)
BMGC_DS06390,BMG_DS020022,Vascular disorder of liver | Vascular disorder of liver (disorder) | hepatic vascular disease | hepatic vascular disorder
BMGC_DS06391,BMG_DS020054,"Hyperbilirubinemia, Conjugated, Type III | hyperbilirubinemia, conjugated, type 3"
BMGC_DS06392,BMG_DS020056,Non-alcoholic Fatty Liver Disease | metabolic dysfunction-associated steatotic liver disease
BMGC_DS06393,BMG_DS020112,(Chronic diarrhea) or (other non-infective gastroenteritis and colitis NOS) | (Chronic diarrhoea) or (other non-infective gastroenteritis and colitis NOS) | (Chronic diarrhoea) or (other non-infective gastroenteritis and colitis NOS) (disorder) | Chronic diarrhea | Chronic diarrhea (disorder) | Chronic diarrhoea | Other non-infective gastroenteritis and colitis NOS | chronic diarrheal disease
BMGC_DS06394,BMG_DS020150,Nephrotic Syndrome | Steroid-Sensitive Nephrotic Syndrome | nephrotic syndrome of childhood - steroid sensitive
BMGC_DS06395,BMG_DS020151,SRNS - Steroid-resistant nephrotic syndrome | Steroid-resistant nephrotic syndrome | Steroid-resistant nephrotic syndrome (disorder) | Steroid-unresponsive nephrotic syndrome | steroid-resistant nephrotic syndrome
BMGC_DS06396,BMG_DS020152,Nephrotic Syndrome | Steroid-Dependent Nephrotic Syndrome
BMGC_DS06397,BMG_DS020153,"CNF - Finnish congenital nephrotic syndrome | Congenital Finnish nephrosis | Finnish congenital nephrotic syndrome | Finnish congenital nephrotic syndrome (disorder) | congenital nephrotic syndrome, Finnish type | nephrotic syndrome type 1"
BMGC_DS06398,BMG_DS020165,Acute glomerulonephritis due to and following streptococcal infection | Acute glomerulonephritis due to and following streptococcal infection (disorder) | Acute post-streptococcal glomerulonephritis | PSGN - post-streptococcal glomerulonephritis | Post-streptococcal glomerulonephritis | acute poststreptococcal glomerulonephritis
BMGC_DS06399,BMG_DS020167,CGN - Crescentic glomerulonephritis | Crescentic glomerulonephritis | Crescentic glomerulonephritis (disorder) | Idiopathic crescentic glomerulonephritis | Idiopathic crescentic glomerulonephritis (disorder) | Proliferative crescentic glomerulonephritis | crescentic glomerulonephritis
BMGC_DS06400,BMG_DS020189,"Renal Failure, Progressive, with Hypertension | autosomal dominant progressive nephropathy with hypertension"
BMGC_DS06401,BMG_DS020192,"Chronic Kidney Insufficiency | Renal Insufficiency, Chronic"
BMGC_DS06402,BMG_DS020202,End stage renal failure on dialysis | End stage renal failure on dialysis (disorder)
BMGC_DS06403,BMG_DS020205,acute papillary necrosis
BMGC_DS06404,BMG_DS020247,Acute scleroderma renal crisis | Acute scleroderma renal crisis (disorder)
BMGC_DS06405,BMG_DS020249,Anti-Glomerular Basement Membrane Disease | Goodpasture syndrome | anti-glomerular basement membrane disease
BMGC_DS06406,BMG_DS020267,Salcedo syndrome | nail-patella-like renal disease
BMGC_DS06407,BMG_DS020269,"Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness | prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness"
BMGC_DS06408,BMG_DS020271,Loken Senior syndrome | Renal dysplasia and retinal aplasia | Renal dysplasia and retinal aplasia (disorder) | Senior-Loken syndrome
BMGC_DS06409,BMG_DS020272,"Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness | renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss"
BMGC_DS06410,BMG_DS020273,Ochoa syndrome | Ochoa syndrome (disorder) | urofacial syndrome
BMGC_DS06411,BMG_DS020275,Glomerulopathy with Giant Fibrillar Deposits | glomerulopathy with fibronectin deposits 1
BMGC_DS06412,BMG_DS020277,DDS - dialysis disequilibrium syndrome | Dialysis disequilibrium | Dialysis disequilibrium syndrome | Dialysis disequilibrium syndrome (disorder) | Dialysis dysequilibrium syndrome | dialysis disequilibrium syndrome
BMGC_DS06413,BMG_DS020282,Adynamic bone disease | Adynamic bone disease (disorder) | Aplastic bone disease
BMGC_DS06414,BMG_DS020307,Disorder of ureter | Disorder of ureter (disorder) | ureteral disease | ureteral disorder
BMGC_DS06415,BMG_DS020323,disorder of neck of urinary bladder
BMGC_DS06416,BMG_DS020324,BOO - bladder outflow obstruction | Bladder outflow obstruction | Obstruction of urinary bladder outflow | Obstruction of urinary bladder outflow (disorder)
BMGC_DS06417,BMG_DS020346,Uric acid urolithiasis | Uric acid urolithiasis (disorder) | uric acid nephrolithiasis
BMGC_DS06418,BMG_DS020347,"X-linked recessive nephrolithiasis with renal failure | X-linked recessive nephrolithiasis with renal failure (disorder) | nephrolithiasis, X-linked recessive, with renal failure"
BMGC_DS06419,BMG_DS020353,IUCD (intrauterine contraceptive device) perforation of uterus | IUD (intrauterine contraceptive device) perforation of uterus | Perforation of uterus caused by intrauterine contraceptive device | Perforation of uterus caused by intrauterine contraceptive device (disorder) | Uterine perforation by intrauterine contraceptive device
BMGC_DS06420,BMG_DS020385,Oligosynaptic Infertility | spermatogenic failure 1
BMGC_DS06421,BMG_DS020386,Congenital impairment of sperm motility | Congenital impairment of spermatozoa motility | Congenital impairment of spermatozoa motility (disorder)
BMGC_DS06422,BMG_DS020387,"Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa | spermatogenic failure 5"
BMGC_DS06423,BMG_DS020388,congenital bilateral aplasia of vas deferens from CFTR mutation
BMGC_DS06424,BMG_DS020395,Asthenozoospermia
BMGC_DS06425,BMG_DS020396,Teratozoospermia | Teratozoospermia (disorder) | spermatogenic failure 6
BMGC_DS06426,BMG_DS020397,spermatogenic failure 6
BMGC_DS06427,BMG_DS020698,Adolescent macromastia | Diffuse hypertrophy of breast | Juvenile mammary hypertrophy | Pubertal breast hypertrophy | Pubertal breast hypertrophy (disorder) | familial juvenile hypertrophy of the breast
BMGC_DS06428,BMG_DS020710,Adrenal cortical hypofunction | Adrenal cortical hypofunction (disorder) | Adrenal insufficiency | Adrenocortical hypofunction | Corticoadrenal insufficiency | Hypoadrenocorticism | Primary hypoadrenalism | adrenal cortical hypofunction | adrenocortical insufficiency
BMGC_DS06429,BMG_DS020803,Cutaneous involvement by listeriosis | Cutaneous involvement in listeriosis | Cutaneous involvement in listeriosis (disorder) | Cutaneous listeriosis | Cutaneous listeriosis (disorder)
BMGC_DS06430,BMG_DS020819,Actinic prurigo | Actinic prurigo (disorder) | Bazin's hydroa vacciniforme | Familial actinic prurigo | Familial polymorphous light eruption of American Indians | Hereditary polymorphous light eruption of American Indians | Hutchinson's summer prurigo | Hydroa aestivale | Hydroa estivale | Hydroa estivale (disorder) | Hydroa vacciniforme | Summer prurigo of Hutchinson | actinic prurigo
BMGC_DS06431,BMG_DS020869,Chronic small plaque psoriasis | Chronic small plaque psoriasis (disorder)
BMGC_DS06432,BMG_DS020878,Psoriasis of scalp | Psoriasis of scalp (disorder) | Scalp psoriasis
BMGC_DS06433,BMG_DS020924,Erosive oral lichen planus | Erosive oral lichen planus (disorder)
BMGC_DS06434,BMG_DS020967,nonsyndromic congenital nail disorder 1
BMGC_DS06435,BMG_DS020985,Loose Anagen Hair Syndrome | loose anagen hair syndrome | loose anagen syndrome
BMGC_DS06436,BMG_DS021001,Ocular Rosacea | Rosacea
BMGC_DS06437,BMG_DS021013,Hereditary benign telangiectasia | Hereditary benign telangiectasia (disorder) | generalized essential telangiectasia
BMGC_DS06438,BMG_DS021034,Neuropathic diabetic ulcer - foot | Neuropathic ulcer of foot due to diabetes mellitus | Neuropathic ulcer of foot due to diabetes mellitus (disorder)
BMGC_DS06439,BMG_DS021044,Drug Eruptions | Morbilliform Drug Reaction
BMGC_DS06440,BMG_DS021059,Congenital bullous poikiloderma | Kindler epidermolysis bullosa | Kindler epidermolysis bullosa (disorder) | Kindler syndrome | Kindler's syndrome | Poikiloderma of Kindler
BMGC_DS06441,BMG_DS021061,Pseudoatrophoderma Colli | Pseudoatrophoderma colli
BMGC_DS06442,BMG_DS021074,Infantile restrictive dermopathy | Lethal tight skin contracture syndrome | Lethal tight skin contracture syndrome (disorder) | restrictive dermopathy
BMGC_DS06443,BMG_DS021075,Neonatal pseudo-hydrocephalic progeroid syndrome | Neonatal pseudo-hydrocephalic progeroid syndrome (disorder) | Wiedemann-Rautenstrauch syndrome
BMGC_DS06444,BMG_DS021076,WSS - Wrinkly skin syndrome | Wrinkly skin syndrome | Wrinkly skin syndrome (disorder) | wrinkly skin syndrome
BMGC_DS06445,BMG_DS021091,pelvic lipomatosis
BMGC_DS06446,BMG_DS021093,encephalocraniocutaneous lipomatosis
BMGC_DS06447,BMG_DS021114,Erythema multiforme-like lupus erythematosus | Erythema multiforme-like lupus erythematosus (disorder) | Rowell syndrome
BMGC_DS06448,BMG_DS021145,Bullous pyoderma | Bullous pyoderma gangrenosum | Bullous pyoderma gangrenosum (disorder) | bullous pyoderma gangrenosum
BMGC_DS06449,BMG_DS021156,autosomal recessive hypohidrotic ectodermal dysplasia
BMGC_DS06450,BMG_DS021157,"EEC syndrome | Rudiger syndrome 1 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"
BMGC_DS06451,BMG_DS021158,BASAN syndrome | Basan syndrome | Basan syndrome (disorder) | absence of fingerprints-congenital milia syndrome
BMGC_DS06452,BMG_DS021159,"AEC - Ankyloblepharon, ectodermal defects, cleft lip and palate | AEC syndrome | Ankyloblepharon, ectodermal defects, cleft lip and palate | Ankyloblepharon-ectodermal dysplasia-clefting syndrome | Hay Wells syndrome of ectodermal dysplasia | Hay-Wells syndrome | Hay-Wells syndrome of ectodermal dysplasia | Hay-Wells syndrome of ectodermal dysplasia (disorder) | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"
BMGC_DS06453,BMG_DS021161,Fried tooth and nail syndrome | Fried's tooth and nail syndrome | Fried's tooth and nail syndrome (disorder) | ectodermal dysplasia 8
BMGC_DS06454,BMG_DS021162,wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
BMGC_DS06455,BMG_DS021164,"GAPO syndrome | Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy"
BMGC_DS06456,BMG_DS021165,Trichodental syndrome | Trichodental syndrome (disorder) | trichodental syndrome
BMGC_DS06457,BMG_DS021166,Orofaciodigital syndrome 3 | orofaciodigital syndrome III
BMGC_DS06458,BMG_DS021167,Orofaciodigital syndrome 4 | orofaciodigital syndrome IV
BMGC_DS06459,BMG_DS021170,CHAND syndrome | Curly hair-ankyloblepharon-nail dysplasia syndrome
BMGC_DS06460,BMG_DS021172,Hypoplastic enamel-onycholysis-hypohidrosis syndrome | Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) | Witkop-Brearley-Gentry syndrome | tooth and nail syndrome
BMGC_DS06461,BMG_DS021176,Kohlschutter Tonz syndrome | Kohlschutter-Tonz syndrome | amelocerebrohypohidrotic syndrome
BMGC_DS06462,BMG_DS021183,Erythrokeratolysis hiemalis | Keratolytic winter erythema | Keratolytic winter erythema (disorder) | Oudtshoorn disease | Winter erythrokeratolysis | keratolytic winter erythema
BMGC_DS06463,BMG_DS021184,hereditary palmoplantar keratoderma
BMGC_DS06464,BMG_DS021185,Congenital palmoplantar and perioral keratoderma of Olmsted | Congenital palmoplantar and perioral keratoderma of Olmsted (disorder) | Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques | Olmsted syndrome
BMGC_DS06465,BMG_DS021189,palmoplantar keratoderma-sclerodactyly syndrome
BMGC_DS06466,BMG_DS021193,dyschromatosis symmetrica hereditaria
BMGC_DS06467,BMG_DS021195,dermatopathia pigmentosa reticularis
BMGC_DS06468,BMG_DS021210,syringocystadenoma papilliferum
BMGC_DS06469,BMG_DS021213,Carney Complex | Carney complex
BMGC_DS06470,BMG_DS021214,Dowling-Degos disease | Kitamura's reticulate acropigmentation | Reticulate acropigmentation of Kitamura | Reticulate acropigmentation of Kitamura (disorder) | reticulate acropigmentation of Kitamura
BMGC_DS06471,BMG_DS021215,familial cutaneous collagenoma
BMGC_DS06472,BMG_DS021216,congenital smooth muscle hamartoma
BMGC_DS06473,BMG_DS021275,Protrusio acetabuli
BMGC_DS06474,BMG_DS021401,juvenile chronic polyarthritis | juvenile rheumatoid arthritis
BMGC_DS06475,BMG_DS021407,"AS - Juvenile ankylosing spondylitis | Inflammation of spine, unspecified | Juvenile ankylosing spondylitis | Juvenile ankylosing spondylitis (disorder) | juvenile ankylosing spondylitis"
BMGC_DS06476,BMG_DS021499,"CINCA syndrome | Chronic Infantile Neurological, Cutaneous, and Articular Syndrome | Cryopyrin-Associated Periodic Syndromes"
BMGC_DS06477,BMG_DS021602,"Osteoarthritis, Knee | osteoarthritis, knee"
BMGC_DS06478,BMG_DS021614,lupus erythematosus
BMGC_DS06479,BMG_DS021639,"(Muscle/ligament disord NOS) or (lig contraction) or (musc contracture) or (nodular fasciitis) or (granuloma: [FB][talc]) or (hypotonia unsp) or (non-traum musc: [tear][rupt]) or (rhabdomyolysis) | (Muscle/ligament disord NOS) or (lig contraction) or (musc contracture) or (nodular fasciitis) or (granuloma: [FB][talc]) or (hypotonia unsp) or (non-traum musc: [tear][rupt]) or (rhabdomyolysis) (disorder) | Contraction - ligament | Fasciitis - nodular | Fasciitis and fibromatosis | Foreign body granuloma | Granuloma -foreign body | Hypotonia, unspecified | Infiltrative fasciitis | Muscle contracture | Muscle/ligament disorder NOS | Nodular fasciitis | Nodular fasciitis (disorder) | Nodular fasciitis (morphologic abnormality) | Non-traumatic muscle rupture | Non-traumatic muscle tear | Nontraumatic muscle rupture | Proliferative fasciitis | Pseudosarcomatous fasciitis | Pseudosarcomatous fibromatosis | Rhabdomyolysis | Talc granuloma | nodular fasciitis | pseudosarcomatous fibromatosis"
BMGC_DS06480,BMG_DS021661,trigger thumb
BMGC_DS06481,BMG_DS021665,"Dupuytren disease of finger, with contracture | Dupuytren's disease of finger(s), with contracture | Dupuytren's disease of finger, with contracture | Dupuytren's disease of finger, with contracture (disorder)"
BMGC_DS06482,BMG_DS021732,Severe autosomal recessive muscular dystrophy of childhood - North African type | Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) | autosomal recessive limb-girdle muscular dystrophy type 2C
BMGC_DS06483,BMG_DS021733,"Fukuyama Type Congenital Muscular Dystrophy | Walker-Warburg Syndrome | Walker-Warburg syndrome | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"
BMGC_DS06484,BMG_DS021738,Ullrich congenital muscular dystrophy 1 | Ullrich congenital muscular dystrophy 1A
BMGC_DS06485,BMG_DS021739,Eichsfeld type congenital muscular dystrophy | Eichsfeld type congenital muscular dystrophy (disorder) | Rigid spine syndrome | rigid spine muscular dystrophy 1
BMGC_DS06486,BMG_DS021746,"Emery-Dreifuss muscular dystrophy | Muscular Dystrophy, Emery-Dreifuss"
BMGC_DS06487,BMG_DS021747,"Emery-Dreifuss muscular dystrophy 2, autosomal dominant"
BMGC_DS06488,BMG_DS021749,"Muscular Dystrophy, Scapulohumeral | muscular dystrophy, scapulohumeral"
BMGC_DS06489,BMG_DS021759,X-linked myotubular myopathy | centronuclear myopathy X-linked
BMGC_DS06490,BMG_DS021760,"Myopathy, Centronuclear, Autosomal Recessive | centronuclear myopathy 2 | myopathy, centronuclear, 2"
BMGC_DS06491,BMG_DS021763,"Myopathies, Structural, Congenital | Tubular Aggregate Myopathy | tubular aggregate myopathy"
BMGC_DS06492,BMG_DS021768,Myopathy with Abnormal Lipid Metabolism
BMGC_DS06493,BMG_DS021777,Congenital Myotonic Dystrophy | Myotonic Dystrophy | congenital myotonic dystrophy
BMGC_DS06494,BMG_DS021879,"CRMO - Chronic multifocal osteomyelitis | Chronic multifocal osteomyelitis | Chronic multifocal osteomyelitis (disorder) | Osteomyelitis or osteitis, unspecified | chronic recurrent multifocal osteomyelitis"
BMGC_DS06495,BMG_DS021943,Congenital skeletal dysplasia | Congenital skeletal dysplasia (disorder) | Osteochondrodysplasia | Osteodysplasia | Skeletal dysplasia | skeletal dysplasia
BMGC_DS06496,BMG_DS021944,Hypochondrodysplasia | Hypochondroplasia | Hypochondroplasia (disorder) | hypochondroplasia
BMGC_DS06497,BMG_DS021945,Metachondromatosis | Metachondromatosis (disorder) | metachondromatosis
BMGC_DS06498,BMG_DS021949,pseudoachondroplasia
BMGC_DS06499,BMG_DS021950,CDD - Craniodiaphyseal dysplasia | Craniodiaphyseal dysplasia | Craniodiaphyseal dysplasia (disorder) | craniodiaphyseal dysplasia
BMGC_DS06500,BMG_DS021974,Synovial Hypertrophy | Synovitis
BMGC_DS06501,BMG_DS021994,cervical disk degenerative disorder | degenerative disc disease
BMGC_DS06502,BMG_DS022238,"Seizures | Seizures, Somatosensory"
BMGC_DS06503,BMG_DS022244,Amblyopia | Lazy Eye
BMGC_DS06504,BMG_DS022254,Superior Oblique Myokymia | Trochlear Nerve Diseases | trochlear nerve disease
BMGC_DS06505,BMG_DS022255,telecanthus
BMGC_DS06506,BMG_DS022261,enophthalmos
BMGC_DS06507,BMG_DS022264,heterochromia iridis
BMGC_DS06508,BMG_DS022271,retinal arterial tortuosity
BMGC_DS06509,BMG_DS022274,"Low Back Pain | Low Back Pain, Mechanical"
BMGC_DS06510,BMG_DS022280,"Neuralgia | Neuralgia, Perineal"
BMGC_DS06511,BMG_DS022281,"Neuralgia | Neuralgia, Iliohypogastric Nerve"
BMGC_DS06512,BMG_DS022284,Dandruff | Pityriasis capitis | Pityriasis sicca | Pityriasis simplex | Pityriasis streptogenes | Scurf | Scurfiness of scalp | Scurfiness of scalp (disorder) | Scurfiness of scalp (finding) | Seborrhea capitis | Seborrhea sicca | Seborrheic dermatitis of scalp | Seborrheic eczema of scalp | Seborrhoea capitis | Seborrhoea sicca | Seborrhoeic dermatitis of scalp | Seborrhoeic eczema of scalp | pityriasis simplex
BMGC_DS06513,BMG_DS022307,Quadriplegia | Spastic Quadriplegia | spastic quadriplegic cerebral palsy
BMGC_DS06514,BMG_DS022309,Facial Paralysis | Facial Paresis
BMGC_DS06515,BMG_DS022321,Aortic valve calcification | Aortic valve calcification (disorder) | Calcified aortic valve | aortic valve calcification
BMGC_DS06516,BMG_DS022328,Dilatation of pulmonary artery | Dilatation of pulmonary artery (disorder)
BMGC_DS06517,BMG_DS022329,sinoatrial node disorder
BMGC_DS06518,BMG_DS022331,Supraventricular arrhythmia | Supraventricular arrhythmia (disorder)
BMGC_DS06519,BMG_DS022348,anaplastic oligoastrocytoma
BMGC_DS06520,BMG_DS022349,choroid plexus carcinoma
BMGC_DS06521,BMG_DS022352,choroid plexus meningioma
BMGC_DS06522,BMG_DS022353,lymphoplasmacyte-rich meningioma
BMGC_DS06523,BMG_DS022354,clear cell meningioma
BMGC_DS06524,BMG_DS022355,cellular schwannoma
BMGC_DS06525,BMG_DS022356,papillary craniopharyngioma
BMGC_DS06526,BMG_DS022357,adamantinous craniopharyngioma
BMGC_DS06527,BMG_DS022367,aprosencephaly
BMGC_DS06528,BMG_DS022371,lobar holoprosencephaly
BMGC_DS06529,BMG_DS022372,alobar holoprosencephaly
BMGC_DS06530,BMG_DS022375,Classical Lissencephalies and Subcortical Band Heterotopias | Classical Lissencephaly | chromosome 17p13.1 deletion syndrome | classic lissencephaly
BMGC_DS06531,BMG_DS022377,cerebral cortical dysplasia
BMGC_DS06532,BMG_DS022379,colpocephaly
BMGC_DS06533,BMG_DS022380,Hemimegalencephaly | Hemimegalencephaly (disorder) | hemimegalencephaly
BMGC_DS06534,BMG_DS022381,Familial aplasia of the vermis | Familial aplasia of the vermis (disorder) | Joubert syndrome
BMGC_DS06535,BMG_DS022383,"Aniridia, cerebellar ataxia, intellectual disability syndrome | Gillespie syndrome | Gillespie syndrome (disorder) | aniridia-cerebellar ataxia-intellectual disability syndrome"
BMGC_DS06536,BMG_DS022384,Asymmetric crying face association | Asymmetric crying face association (disorder) | Asymmetric crying facies | Asymmetrical crying face syndrome | Cardiofacial syndrome | Congenital unilateral hypoplasia of depressor anguli oris | congenital unilateral hypoplasia of depressor anguli oris
BMGC_DS06537,BMG_DS022386,Vein of Galen aneurysm | vein of Galen aneurysm
BMGC_DS06538,BMG_DS022395,Congenital absence of uterus and vagina | Mayer-Rokitansky-Kuster syndrome | Mayer-Rokitansky-Kuster-Hauser syndrome | Rokitansky sequence | Rokitansky sequence (disorder)
BMGC_DS06539,BMG_DS022397,"renal hypoplasia, bilateral"
BMGC_DS06540,BMG_DS022398,"HNF1B (HNF1 homeobox B) monogenic diabetes mellitus | HNF1B monogenic diabetes mellitus | HNF1B-MODY - HNF1 homeobox B maturity-onset diabetes of the young type 5 | MODY5 - maturity-onset diabetes of the young type 5 | Maturity-onset diabetes of the young, type 5 | Maturity-onset diabetes of the young, type 5 (disorder) | Renal cysts and diabetes syndrome | Renal cysts and diabetes syndrome (disorder) | renal cysts and diabetes syndrome"
BMGC_DS06541,BMG_DS022400,"renal dysplasia, unilateral"
BMGC_DS06542,BMG_DS022401,"renal dysplasia, bilateral"
BMGC_DS06543,BMG_DS022407,Multiple renal cysts | Multiple renal cysts (disorder)
BMGC_DS06544,BMG_DS022418,"thumbs, congenital Clasped"
BMGC_DS06545,BMG_DS022420,postaxial polydactyly of fingers
BMGC_DS06546,BMG_DS022424,split foot
BMGC_DS06547,BMG_DS022429,cleft hard palate
BMGC_DS06548,BMG_DS022430,cleft soft palate
BMGC_DS06549,BMG_DS022434,trigonocephaly 1
BMGC_DS06550,BMG_DS022435,Kleeblattschaedel syndrome | isolated cloverleaf skull syndrome
BMGC_DS06551,BMG_DS022436,"cervical vertebrae, agenesis of"
BMGC_DS06552,BMG_DS022443,Schneckenbecken dysplasia | Schneckenbecken dysplasia (disorder) | schneckenbecken dysplasia
BMGC_DS06553,BMG_DS022444,short rib dysplasia
BMGC_DS06554,BMG_DS022445,"Short rib-polydactyly syndrome, Verma-Naumoff type"
BMGC_DS06555,BMG_DS022446,"Beemer-Langer syndrome | Short rib-polydactyly syndrome, Beemer type"
BMGC_DS06556,BMG_DS022447,Boomerang dysplasia | Boomerang dysplasia (disorder)
BMGC_DS06557,BMG_DS022448,Pseudodiastrophic dysplasia | Pseudodiastrophic dysplasia (disorder) | pseudodiastrophic dysplasia
BMGC_DS06558,BMG_DS022450,"Dyssegmental dysplasia, Rolland-Desbuquois type | dyssegmental dysplasia, Rolland-Desbuquois type"
BMGC_DS06559,BMG_DS022451,Spondyloepimetaphyseal disorder | Spondyloepimetaphyseal disorder (disorder) | Spondyloepimetaphyseal dysplasia | spondyloepimetaphyseal dysplasia
BMGC_DS06560,BMG_DS022452,"Spondyloepimetaphyseal Dysplasia, Irapa Type | spondyloepimetaphyseal dysplasia, Irapa type"
BMGC_DS06561,BMG_DS022453,Namaqualand hip dysplasia | Namaqualand hip dysplasia (disorder) | mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
BMGC_DS06562,BMG_DS022454,Progressive pseudorheumatoid dysplasia | Progressive pseudorheumatoid dysplasia (disorder) | progressive pseudorheumatoid arthropathy of childhood
BMGC_DS06563,BMG_DS022455,"Epiphyseal dysplasia, multiple, with early onset diabetes mellitus | Wolcott-Rallison dysplasia | Wolcott-Rallison dysplasia (disorder) | Wolcott-Rallison syndrome"
BMGC_DS06564,BMG_DS022457,Opsismodysplasia | Opsismodysplasia (disorder) | opsismodysplasia
BMGC_DS06565,BMG_DS022458,"Spondylometaphyseal dysplasia, 'corner fracture' type | spondylometaphyseal dysplasia corner fracture type | spondylometaphyseal dysplasia, 'corner fracture' type"
BMGC_DS06566,BMG_DS022459,Spondyloenchondrodysplasia | Spondyloenchondrodysplasia (disorder)
BMGC_DS06567,BMG_DS022460,"chondrodysplasia punctata, tibial-metacarpal type"
BMGC_DS06568,BMG_DS022461,"Metaphyseal chondrodysplasia Spahr type | metaphyseal chondrodysplasia, Spahr type"
BMGC_DS06569,BMG_DS022462,Metaphyseal anadysplasia | Metaphyseal anadysplasia (disorder) | metaphyseal anadysplasia
BMGC_DS06570,BMG_DS022463,autosomal dominant brachyolmia
BMGC_DS06571,BMG_DS022464,Brachyolmia | Brachyolmia (disorder) | brachyolmia
BMGC_DS06572,BMG_DS022466,Langer mesomelic dysplasia
BMGC_DS06573,BMG_DS022467,"Mesomelic dysplasia - Nievergelt type | Nievergelt syndrome | Nievergelt's syndrome | Nievergelt's syndrome (disorder) | Nievergelt-Erb syndrome | mesomelic dwarfism, Nievergelt type"
BMGC_DS06574,BMG_DS022468,TRPS I - Trichorhinophalangeal syndrome I | Trichorhinophalangeal dysplasia type I | Trichorhinophalangeal dysplasia type I (disorder) | Trichorhinophalangeal syndrome I | trichorhinophalangeal syndrome type I
BMGC_DS06575,BMG_DS022469,CRANIOECTODERMAL DYSPLASIA 1 | cranioectodermal dysplasia 1
BMGC_DS06576,BMG_DS022470,bent bone dysplasia
BMGC_DS06577,BMG_DS022471,Kyphomelic dysplasia | Kyphomelic dysplasia (disorder) | kyphomelic dysplasia
BMGC_DS06578,BMG_DS022472,Desbuquois dysplasia | Desbuquois syndrome | Desbuquois syndrome (disorder)
BMGC_DS06579,BMG_DS022473,Spondyloepimetaphyseal Dysplasia With Joint Laxity | spondyloepimetaphyseal dysplasia with joint laxity
BMGC_DS06580,BMG_DS022475,"Microcephalic Osteodysplastic Primordial Dwarfism, Type II | microcephalic osteodysplastic primordial dwarfism type II"
BMGC_DS06581,BMG_DS022476,Osteoporosis with pseudoglioma | Osteoporosis with pseudoglioma (disorder) | osteoporosis-pseudoglioma syndrome
BMGC_DS06582,BMG_DS022477,Bruck syndrome | Bruck syndrome (disorder)
BMGC_DS06583,BMG_DS022478,Singleton Merten syndrome | Singleton-Merten dysplasia
BMGC_DS06584,BMG_DS022479,GO - Geroderma osteodysplastica | Geroderma osteodysplastica | Geroderma osteodysplastica (disorder) | Osteodysplastic geroderma | geroderma osteodysplastica | geroderma osteodysplasticum
BMGC_DS06585,BMG_DS022483,Osteopetrosis - intermediate type | Osteopetrosis - intermediate type (disorder)
BMGC_DS06586,BMG_DS022484,Dysosteosclerosis | Dysosteosclerosis (disorder) | dysosteosclerosis
BMGC_DS06587,BMG_DS022486,Axial osteosclerosis | Axial osteosclerosis (disorder) | Osteomesopycnosis | osteomesopyknosis
BMGC_DS06588,BMG_DS022487,IBIDS Syndrome | Trichothiodystrophy Syndromes | nonphotosensitive trichothiodystrophy 5 | photosensitive trichothiodystrophy
BMGC_DS06589,BMG_DS022488,Osteopathia striata cranial sclerosis | osteopathia striata with cranial sclerosis
BMGC_DS06590,BMG_DS022489,Lenz-Majewski hyperostotic dwarfism
BMGC_DS06591,BMG_DS022491,Hyperostosis corticalis generalisata | Hyperphosphatasaemia tarda | Hyperphosphatasemia tarda | Hyperphosphatasemia tarda (disorder) | Hyperphosphatasia tarda | Leontiasis ossea generalisata | Van Buchem disease | hyperostosis corticalis generalisata | van Buchem's syndrome
BMGC_DS06592,BMG_DS022492,"Autosomal dominant osteosclerosis | Worth disease | Worth disease (disorder) | Worth syndrome | autosomal dominant osteosclerosis, Worth type"
BMGC_DS06593,BMG_DS022495,Dysplasia epiphysealis hemimelica | Dysplasia epiphysealis hemimelica (disorder) | Trevor disease | Trevor's disease | dysplasia epiphysealis hemimelica
BMGC_DS06594,BMG_DS022496,osteoglophonic dwarfism | osteoglophonic dysplasia
BMGC_DS06595,BMG_DS022497,infantile myofibromatosis
BMGC_DS06596,BMG_DS022499,Dermochondrocorneal dystrophy of François | dermochondrocorneal dystrophy
BMGC_DS06597,BMG_DS022500,Winchester syndrome | Winchester syndrome (disorder)
BMGC_DS06598,BMG_DS022501,Craniomandibular dermatodysostosis | Familial mandibuloacral dysplasia | Mandibuloacral dysostosis | Mandibuloacral dysostosis (disorder) | Mandibuloacral dysplasia | mandibuloacral dysplasia
BMGC_DS06599,BMG_DS022502,familial expansile osteolysis
BMGC_DS06600,BMG_DS022504,autosomal dominant ichthyosis vulgaris
BMGC_DS06601,BMG_DS022506,"Lamellar ichthyosis, autosomal dominant form | ichthyosis, lamellar, autosomal dominant"
BMGC_DS06602,BMG_DS022507,bullous congenital ichthyosiform erythroderma | superficial epidermolytic ichthyosis
BMGC_DS06603,BMG_DS022509,"ichthyosis histrix, Lambert type"
BMGC_DS06604,BMG_DS022512,"epidermolysis bullosa simplex 2F, with mottled pigmentation | epidermolysis bullosa simplex with mottled pigmentation"
BMGC_DS06605,BMG_DS022513,"Autosomal dominant epidermolysis bullosa simplex | Autosomal dominant epidermolysis bullosa simplex (disorder) | EBS 1 | Epidermolysis bullosa simplex of Ogna | Epidermolysis bullosa simplex, Ogna type | Epidermolysis bullosa simplex, Ogna type (disorder) | pidermolysis bullosa simplex 5A, Ogna type"
BMGC_DS06606,BMG_DS022515,pretibial dystrophic epidermolysis bullosa
BMGC_DS06607,BMG_DS022516,generalized dominant dystrophic epidermolysis bullosa
BMGC_DS06608,BMG_DS022518,Generalised atrophic benign epidermolysis bullosa - GABEB | Generalised junctional epidermolysis bullosa non-Herlitz type | Generalized atrophic benign epidermolysis bullosa - GABEB | Generalized junctional epidermolysis bullosa non-Herlitz type | Junctional epidermolysis bullosa Disentis type | Junctional epidermolysis bullosa generalised intermediate | Junctional epidermolysis bullosa generalized intermediate | Junctional epidermolysis bullosa mitis | Junctional epidermolysis bullosa mitis (disorder) | generalized junctional epidermolysis bullosa non-Herlitz type
BMGC_DS06609,BMG_DS022522,Cutis Laxa-Marfanoid Syndrome | cutis laxa - Marfanoid syndrome
BMGC_DS06610,BMG_DS022523,autosomal recessive cutis laxa type I
BMGC_DS06611,BMG_DS022528,Pili trianguli et canaliculi | Spun glass hair | Uncombable hair syndrome | Uncombable hair syndrome (disorder) | uncombable hair syndrome
BMGC_DS06612,BMG_DS022530,isolated congenital breast hypoplasia/aplasia
BMGC_DS06613,BMG_DS022531,Isotretinoin embryopathy like syndrome | isotretinoin-like syndrome
BMGC_DS06614,BMG_DS022551,"Down Syndrome | Down Syndrome, Partial Trisomy 21"
BMGC_DS06615,BMG_DS022552,"Down Syndrome | Trisomy 21, Meiotic Nondisjunction"
BMGC_DS06616,BMG_DS022568,Chromosome 18p deletion syndrome | chromosome 18p deletion syndrome
BMGC_DS06617,BMG_DS022569,18p- syndrome | 18q- syndrome | Deletion of arm of chromosome 18: [long] or [p] | Deletion of arm of chromosome 18: [long] or [p] (disorder) | Deletion of long arm of chromosome 18 | Deletion of long arm of chromosome 18 (disorder) | chromosome 18q deletion syndrome
BMGC_DS06618,BMG_DS022593,post-transplant lymphoproliferative disease
BMGC_DS06619,BMG_DS022594,lower lip cancer
BMGC_DS06620,BMG_DS022596,Infiltrative fasciitis | Nodular fasciitis | Nodular fasciitis (disorder) | Proliferative fasciitis | Proliferative fasciitis (disorder) | Proliferative fasciitis (morphologic abnormality) | Pseudosarcomatous fasciitis | Pseudosarcomatous fibromatosis | proliferative fasciitis
BMGC_DS06621,BMG_DS022597,Intravascular fasciitis | Intravascular fasciitis (disorder) | intravascular fasciitis
BMGC_DS06622,BMG_DS022598,upper lip cancer
BMGC_DS06623,BMG_DS022599,lower gum cancer
BMGC_DS06624,BMG_DS022629,Granulomatous orchitis | Non-specific granulomatous orchitis | Non-specific granulomatous orchitis (disorder) | granulomatous orchitis | non-specific granulomatous orchitis
BMGC_DS06625,BMG_DS022631,"Epilepsies, Myoclonic | Myoclonic Encephalopathy"
BMGC_DS06626,BMG_DS022646,substance dependence
BMGC_DS06627,BMG_DS022651,Disorder of the peripheral nervous system | Disorder of the peripheral nervous system (disorder) | Neuropathy | Neuropathy (disorder) | Neuropathy (nerve damage) | PN - Peripheral neuropathy | Peripheral neuropathy | neuropathy
BMGC_DS06628,BMG_DS022658,Urinary calculus | Urinary stone | Urolith in urinary system | Urolithiasis | Urolithiasis (disorder) | urolithiasis
BMGC_DS06629,BMG_DS022664,Ataxia due to mitochondrial mutations | Neuropathy in association with hereditary ataxia | Neuropathy in association with hereditary ataxia (disorder) | spinocerebellar ataxia with axonal neuropathy 1
BMGC_DS06630,BMG_DS022674,"Infarction, Posterior Cerebral Artery | Posterior Cerebral Artery Syndrome"
BMGC_DS06631,BMG_DS022686,Immune dysregulation syndromes presenting primarily with lymphoproliferation | Immunodeficiency following hereditary defective response to Epstein-Barr virus | Immunodeficiency following hereditary defective response to Epstein-Barr virus (disorder) | X-linked lymphoproliferative syndrome 1 | X-linked lymphoproliferative syndrome 2
BMGC_DS06632,BMG_DS022704,"Nephrotic syndrome, focal and segmental glomerular lesions | Nephrotic syndrome, focal and segmental glomerular lesions (disorder)"
BMGC_DS06633,BMG_DS022818,"Acquired conductive hearing loss | Conductive hearing loss, bilateral | Conductive hearing loss, bilateral (disorder)"
BMGC_DS06634,BMG_DS022820,Sensorineural hearing loss of bilateral ears | Sensorineural hearing loss of bilateral ears (disorder) | Sensorineural hearing loss of both ears
BMGC_DS06635,BMG_DS022856,stuttering
BMGC_DS06636,BMG_DS022882,Dyskinesias | Oral Dyskinesia
BMGC_DS06637,BMG_DS022901,Developmental expressive language delay | Expressive developmental language delay | Expressive language delay | Expressive language delay (disorder)
BMGC_DS06638,BMG_DS022905,Benedict Syndrome | Brain Stem Infarctions
BMGC_DS06639,BMG_DS022906,Brain Stem Infarctions | Foville Syndrome
BMGC_DS06640,BMG_DS022907,Brain Stem Infarctions | Weber Syndrome | Weber syndrome
BMGC_DS06641,BMG_DS022908,Brain Stem Infarctions | Top of the Basilar Syndrome
BMGC_DS06642,BMG_DS022918,"Hydrops Fetalis | Hydrops Fetalis, Non-Immune | non-immune hydrops fetalis"
BMGC_DS06643,BMG_DS022919,Hydrops Fetalis | Immune Hydrops Fetalis | immune hydrops fetalis
BMGC_DS06644,BMG_DS022974,Sepsis of the newborn | Sepsis of the newborn (disorder) | neonatal sepsis
BMGC_DS06645,BMG_DS022977,Neonatal meningitis | Neonatal meningitis (disorder)
BMGC_DS06646,BMG_DS022991,Osteopenia of prematurity | Osteopenia of prematurity (disorder) | Osteopenic rickets
BMGC_DS06647,BMG_DS022996,Endometrial Hyperplasia | Simple Endometrial Hyperplasia | endometrial hyperplasia | obsolete endometrial hyperplasia | simple endometrial hyperplasia
BMGC_DS06648,BMG_DS022997,Peutz-Jeghers polyp | Peutz-Jeghers syndrome
BMGC_DS06649,BMG_DS023001,"Median Neuropathy | Median Neuropathy, Proximal"
BMGC_DS06650,BMG_DS023015,non-secretory myeloma
BMGC_DS06651,BMG_DS023017,enteropathy-associated T-cell lymphoma
BMGC_DS06652,BMG_DS023018,familial primary pulmonary hypoplasia
BMGC_DS06653,BMG_DS023019,Abnormal vision | Blindness | Blindness (finding) | Can't see properly | Cannot see | Cannot see properly | Decreased vision | Difficulty seeing | Impaired vision | LV - Low vision | Loss of vision | Low vision | Partial sight | Poor vision | Problem seeing | Problem sight | Reduced ability to see | Sight impaired | UTS - Unable to see | Unable to see | Vision problem | Vision problem (disorder) | Visual disorder | Visual impairment | Visual loss | blindness (disorder)
BMGC_DS06654,BMG_DS023027,"Acrofacial dysostosis Weyers type | Curry-Hall syndrome | Curry-Hall syndrome (disorder) | Weyers acrodental dysostosis | Weyers acrofacial dysostosis | acrofacial dysostosis, Weyers type"
BMGC_DS06655,BMG_DS023030,Muscle eye brain disease | Muscle eye brain disease (disorder) | muscle-eye-brain disease
BMGC_DS06656,BMG_DS023060,Complex Regional Pain Syndromes | complex regional pain syndrome
BMGC_DS06657,BMG_DS023108,Generalised myasthenia | Generalized myasthenia | Generalized myasthenia (disorder)
BMGC_DS06658,BMG_DS023109,Haemorrhagic cerebral infarction | Hemorrhagic cerebral infarction | Hemorrhagic cerebral infarction (disorder)
BMGC_DS06659,BMG_DS023112,"Ischemic Attack, Transient | Posterior Circulation Transient Ischemic Attack"
BMGC_DS06660,BMG_DS023127,cavernous hemangiomas of face-supraumbilical midline raphe syndrome
BMGC_DS06661,BMG_DS023138,Anaemia of renal disease | Anemia of renal disease | Anemia of renal disease (disorder) | Nephrogenic anaemia | Nephrogenic anemia
BMGC_DS06662,BMG_DS023171,Alpha thalassaemia trait | Alpha thalassemia trait | Alpha trait thalassaemia | Alpha trait thalassemia | Alpha trait thalassemia (disorder)
BMGC_DS06663,BMG_DS023175,Beta thalassaemia intermedia | Beta thalassemia intermedia | Beta thalassemia intermedia (disorder) | beta-thalassemia intermedia
BMGC_DS06664,BMG_DS023181,Double heterozygous for Hb E and beta thalassaemia | Double heterozygous for Hb E and beta thalassemia | Haemoglobin E/beta thalassaemia disease | Hemoglobin E/beta thalassemia disease | Hemoglobin E/beta thalassemia disease (disorder) | hemoglobin E-beta-thalassemia syndrome
BMGC_DS06665,BMG_DS023193,Haemolytic anaemia due to hexokinase deficiency | Hemolytic anemia due to hexokinase deficiency | Hemolytic anemia due to hexokinase deficiency (disorder)
BMGC_DS06666,BMG_DS023202,Hypodysfibrinogenaemia | Hypodysfibrinogenemia | Hypodysfibrinogenemia (disorder)
BMGC_DS06667,BMG_DS023209,Fleisher syndrome | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinaemia | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | X-linked agammaglobulinaemia with growth hormone deficiency | X-linked agammaglobulinemia with growth hormone deficiency | X-linked agammaglobulinemia with growth hormone deficiency (disorder) | isolated growth hormone deficiency type III
BMGC_DS06668,BMG_DS023212,WHIM syndrome | WHIM syndrome 1
BMGC_DS06669,BMG_DS023236,"Renal hypouricemia | hypouricemia, renal 1"
BMGC_DS06670,BMG_DS023298,Hypoalphalipoproteinemias
BMGC_DS06671,BMG_DS023307,Vibratory angio-oedema | Vibratory angioedema | Vibratory angioedema (disorder) | autosomal dominant vibratory urticaria | vibratory angioedema
BMGC_DS06672,BMG_DS023322,Achenbach syndrome
BMGC_DS06673,BMG_DS023328,porokeratotic eccrine ostial and dermal duct nevus
BMGC_DS06674,BMG_DS023330,Michelin tire baby syndrome | multiple benign circumferential skin creases on limbs
BMGC_DS06675,BMG_DS023406,Nerve fiber bundle defect | Nerve fiber bundle defect (disorder) | Nerve fibre bundle defect | nerve fibre bundle defect
BMGC_DS06676,BMG_DS023411,Optic Disc Neovascularization | Retinal Neovascularization
BMGC_DS06677,BMG_DS023418,Contact lens corneal edema | Contact lens corneal oedema | Contact lens-induced central corneal edema | Contact lens-induced central corneal oedema | Corneal edema caused by contact lens | Corneal edema caused by wearing of contact lenses | Corneal edema caused by wearing of contact lenses (disorder) | Corneal oedema caused by contact lens | Corneal oedema caused by wearing of contact lenses | contact lens corneal edema
BMGC_DS06678,BMG_DS023421,endometrioid tumor | female reproductive endometrioid cancer
BMGC_DS06679,BMG_DS023427,malignant melanocytic neoplasm of the peripheral nerve sheath
BMGC_DS06680,BMG_DS023429,upper lip cancer
BMGC_DS06681,BMG_DS023430,tongue cancer
BMGC_DS06682,BMG_DS023433,dermal unilateral segmental cavernous angioma
BMGC_DS06683,BMG_DS023495,Disorder of keratinisation | Disorder of keratinization | Disorder of keratinization (disorder) | keratinization disease
BMGC_DS06684,BMG_DS023496,Alpha thalassaemia-mental retardation syndrome | Alpha thalassemia-mental retardation syndrome | Alpha thalassemia-mental retardation syndrome (disorder)
BMGC_DS06685,BMG_DS023498,endometrial carcinoma
BMGC_DS06686,BMG_DS023499,ovarian papillary neoplasm | ovarian papillary tumor
BMGC_DS06687,BMG_DS023501,hemangiopericytic tumor
BMGC_DS06688,BMG_DS023503,synovium neoplasm
BMGC_DS06689,BMG_DS023504,dyslexia
BMGC_DS06690,BMG_DS023505,breath-holding Spells
BMGC_DS06691,BMG_DS023521,"Coagulation defects, unspecified | Other specified coagulation defects | alpha-2-plasmin inhibitor deficiency"
BMGC_DS06692,BMG_DS023522,"MYH-9 related disease | Other primary thrombocytopenia | Thrombocytopenia, unspecified | autosomal dominant isolated macrothrombocytopenia 1 | platelet-type bleeding disorder 16 | platelet-type bleeding disorder 19 | primary thrombocytopenia"
BMGC_DS06693,BMG_DS023523,"Immune system disorders involving white cell lineages, unspecified | Other specified disorders of white blood cells | autoimmune lymphoproliferative syndrome type 4"
BMGC_DS06694,BMG_DS023528,"Combined immunodeficiencies, unspecified | Omenn syndrome | Other combined immunodeficiencies"
BMGC_DS06695,BMG_DS023545,extrapyramidal and movement disease
BMGC_DS06696,BMG_DS023549,Other dystonia | Other specified dystonic disorders | dystonia 23 | dystonia 24 | episodic kinesigenic dyskinesia 1 | paroxysmal nonkinesigenic dyskinesia 1
BMGC_DS06697,BMG_DS023550,"Movement disorders, unspecified | Other specified extrapyramidal and movement disorders | hyperekplexia 2 | hyperekplexia 3"
BMGC_DS06698,BMG_DS023552,"Aicardi-Goutieres syndrome | Disorders with neurocognitive impairment as a major feature, unspecified | Other specified degenerative diseases of nervous system"
BMGC_DS06699,BMG_DS023558,Other forms of migraine | Other forms of migraine (disorder) | familial hemiplegic migraine
BMGC_DS06700,BMG_DS023566,"Disorders of nerve root, plexus or peripheral nerves, unspecified | Other hereditary and idiopathic neuropathies | hereditary sensory and autonomic neuropathy type 6 | hereditary sensory and autonomic neuropathy type 7 | hereditary sensory neuropathy type 1E"
BMGC_DS06701,BMG_DS023591,Hydrocephalus | Post-Traumatic Hydrocephalus
BMGC_DS06702,BMG_DS023656,Chondrocalcinosis | Other chondrocalcinosis | hyperphosphatemic familial tumoral calcinosis
BMGC_DS06703,BMG_DS023744,"Chronic tubulointerstitial nephritis, unspecified | Other chronic tubulo-interstitial nephritis | karyomegalic interstitial nephritis"
BMGC_DS06704,BMG_DS023761,Other specified urinary incontinence
BMGC_DS06705,BMG_DS023815,Other congenital ichthyosis | Other specified genetic disorders of keratinisation | autosomal dominant keratitis-ichthyosis-deafness syndrome | autosomal recessive congenital ichthyosis 11
BMGC_DS06706,BMG_DS023817,"Other congenital malformation syndromes with other skeletal changes | Renpenning syndrome | Structural developmental anomalies of the skeleton, unspecified | short-rib thoracic dysplasia 9 with or without polydactyly"
BMGC_DS06707,BMG_DS023831,rheumatic myocarditis
BMGC_DS06708,BMG_DS023834,Hypertonic bladder | Low compliance bladder | Low compliance urinary bladder | Low compliance urinary bladder (disorder) | low compliance bladder
BMGC_DS06709,BMG_DS023844,Brucella canis brucellosis | Brucella canis infection | Canine abortion syndrome | Canine brucellosis | Canine brucellosis (disorder) | Infection caused by Brucella canis | Infection caused by Brucella canis (disorder) | Infection due to Brucella canis
BMGC_DS06710,BMG_DS023889,kidney cancer
BMGC_DS06711,BMG_DS023892,Other nutritional anemias
BMGC_DS06712,BMG_DS023899,Other hereditary hemolytic anemias
BMGC_DS06713,BMG_DS023910,"Diseases of the immune system, unspecified | Other specified immunodeficiencies | immunodeficiency-centromeric instability-facial anomalies syndrome | immunodeficiency-centromeric instability-facial anomalies syndrome 1 | immunodeficiency-centromeric instability-facial anomalies syndrome 2 | immunodeficiency-centromeric instability-facial anomalies syndrome 3 | immunodeficiency-centromeric instability-facial anomalies syndrome 4"
BMGC_DS06714,BMG_DS023913,Other hypothyroidism
BMGC_DS06715,BMG_DS023919,Hyperparathyroidism and other disorders of parathyroid gland
BMGC_DS06716,BMG_DS023921,Hypofunction and other disorders of the pituitary gland
BMGC_DS06717,BMG_DS023923,Other disorders of adrenal gland
BMGC_DS06718,BMG_DS023929,Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
BMGC_DS06719,BMG_DS023930,Other disorders of amino-acid metabolism
BMGC_DS06720,BMG_DS023931,Other disorders of carbohydrate metabolism
BMGC_DS06721,BMG_DS023932,Disorders of sphingolipid metabolism and other lipid storage disorders
BMGC_DS06722,BMG_DS023934,Disorders of porphyrin and bilirubin metabolism
BMGC_DS06723,BMG_DS023939,"Lipodystrophy, not elsewhere classified | Metabolic disorders, unspecified | congenital generalized lipodystrophy type 1 | congenital generalized lipodystrophy type 2 | congenital generalized lipodystrophy type 3 | congenital generalized lipodystrophy type 4"
BMGC_DS06724,BMG_DS023950,Spinal muscular atrophy and related syndromes
BMGC_DS06725,BMG_DS023954,"Alzheimer Disease | Alzheimer Disease, Late Onset"
BMGC_DS06726,BMG_DS023955,"Other degenerative diseases of nervous system, not elsewhere classified"
BMGC_DS06727,BMG_DS023965,Mononeuropathies | mononeuropathy
BMGC_DS06728,BMG_DS023971,Other disorders of brain
BMGC_DS06729,BMG_DS023987,inner ear disease | inner ear disorder
BMGC_DS06730,BMG_DS023988,"Other disorders of ear, not elsewhere classified"
BMGC_DS06731,BMG_DS023995,Other pulmonary heart diseases
BMGC_DS06732,BMG_DS024047,"Diseases of the digestive system, unspecified | Noninfective gastroenteritis and colitis, unspecified | ileocolitis"
BMGC_DS06733,BMG_DS024076,Other nonscarring hair loss
BMGC_DS06734,BMG_DS024078,Other follicular disorders
BMGC_DS06735,BMG_DS024085,Other rheumatoid arthritis
BMGC_DS06736,BMG_DS024086,Other arthritis
BMGC_DS06737,BMG_DS024090,"Other joint disorder, not elsewhere classified"
BMGC_DS06738,BMG_DS024108,Other disorders of bone density and structure
BMGC_DS06739,BMG_DS024109,Other disorders of bone
BMGC_DS06740,BMG_DS024140,hernia of ovary and fallopian tube
BMGC_DS06741,BMG_DS024172,Noninfectious neonatal diarrhoea | Noninfective neonatal diarrhea | congenital diarrhea 5 with tufting enteropathy | congenital diarrhea 6 | congenital diarrhea 7 with exudative enteropathy | congenital malabsorptive diarrhea 4 | congenital secretory sodium diarrhea 3 | congenital secretory sodium diarrhea 8
BMGC_DS06742,BMG_DS024179,neurofibromatosis
BMGC_DS06743,BMG_DS024180,Other specified congenital malformation syndromes affecting multiple systems
BMGC_DS06744,BMG_DS024181,CLOVES syndrome | Congenital malformation syndromes involving early overgrowth | Overgrowth syndromes
BMGC_DS06745,BMG_DS024184,tongue cancer
BMGC_DS06746,BMG_DS024185,oral cavity cancer
BMGC_DS06747,BMG_DS024187,epiglottis cancer
BMGC_DS06748,BMG_DS024188,postcricoid region cancer
BMGC_DS06749,BMG_DS024189,hypopharynx cancer
BMGC_DS06750,BMG_DS024191,esophageal cancer | malignant neoplasm of abdominal esophagus
BMGC_DS06751,BMG_DS024192,appendix cancer
BMGC_DS06752,BMG_DS024193,islet cell tumor
BMGC_DS06753,BMG_DS024195,labium majus cancer
BMGC_DS06754,BMG_DS024196,labia minora cancer
BMGC_DS06755,BMG_DS024197,bladder trigone cancer
BMGC_DS06756,BMG_DS024198,bladder dome cancer
BMGC_DS06757,BMG_DS024199,bladder lateral wall cancer
BMGC_DS06758,BMG_DS024200,ciliary body cancer
BMGC_DS06759,BMG_DS024202,malignant olfactory nerve neoplasm
BMGC_DS06760,BMG_DS024203,pituitary cancer
BMGC_DS06761,BMG_DS024204,liver carcinoma in situ
BMGC_DS06762,BMG_DS024216,Enlargement of lymph nodes | Lymphadenopathy | Lymphadenopathy (disorder) | Lymphadenopathy (finding) | Swelling of lymph nodes
BMGC_DS06763,BMG_DS024218,cardiovascular cancer | cardiovascular neoplasm
BMGC_DS06764,BMG_DS024220,dementia
BMGC_DS06765,BMG_DS024224,congenital nervous system disorder
BMGC_DS06766,BMG_DS024229,Klebsiella pneumonia | Pneumonia caused by Klebsiella pneumoniae | Pneumonia caused by Klebsiella pneumoniae (disorder) | Pneumonia due to Klebsiella pneumoniae
BMGC_DS06767,BMG_DS024231,colon lymphoma
BMGC_DS06768,BMG_DS024234,lung lymphoma
BMGC_DS06769,BMG_DS024238,"Enterocolitis, Necrotizing | Necrotizing Enterocolitis | necrotizing enterocolitis | perinatal necrotizing enterocolitis"
BMGC_DS06770,BMG_DS024241,somatization disorder | somatoform disorder
BMGC_DS06771,BMG_DS024261,Biliary duct fibrosis | Biliary sclerosis | Fibrosis of bile duct | Fibrosis of bile duct (disorder) | fibrosis of bile duct
BMGC_DS06772,BMG_DS024264,(Acute pyelonephritis) or (acute pyonephrosis) | (Acute pyelonephritis) or (acute pyonephrosis) (disorder) | APN - Acute pyelonephritis | Acute PN - pyelonephritis | Acute bacterial TIN (tubulointerstitial nephritis) | Acute bacterial tubulointerstitial nephritis | Acute bacterial tubulointerstitial nephritis (disorder) | Acute kidney infection | Acute pyelonephritis | Acute pyelonephritis (disorder) | Acute pyonephrosis | Pyonephrosis - acute | acute pyelonephritis
BMGC_DS06773,BMG_DS024266,Urethral atrophy | Urethral atrophy (disorder)
BMGC_DS06774,BMG_DS024274,"Sleep Apnea, Obstructive | obstructive sleep apnea | obstructive sleep apnea syndrome"
BMGC_DS06775,BMG_DS024275,"Sleep Apnea, Central | central sleep apnea"
BMGC_DS06776,BMG_DS024283,Opticocochleodentate Degeneration | Opticocochleodentate degeneration
BMGC_DS06777,BMG_DS024286,Pallidopontonigral degeneration | Pallidopontonigral degeneration (disorder) | frontotemporal dementia
BMGC_DS06778,BMG_DS024288,"Muscular Disorders, Atrophic | Spinopontine Atrophy"
BMGC_DS06779,BMG_DS024293,"Nystagmus, Pathologic | Retraction Nystagmus"
BMGC_DS06780,BMG_DS024298,"HPP - hereditary pyropoikilocytosis | Hereditary elliptocytosis | Hereditary elliptocytosis (disorder) | Hereditary pyropoikilocytosis | Hereditary pyropoikilocytosis (disorder) | pyropoikilocytosis, hereditary"
BMGC_DS06781,BMG_DS024307,Staphylococcal endocarditis | Staphylococcal endocarditis (disorder)
BMGC_DS06782,BMG_DS024313,Klebsiella cystitis | Klebsiella cystitis (disorder)
BMGC_DS06783,BMG_DS024314,Chlamydial pelvic inflammatory disease | Chlamydial pelvic inflammatory disease (disorder) | Pelvic inflammation with female sterility due to Chlamydia trachomatis | Pelvic inflammation with female sterility due to Chlamydia trachomatis (disorder)
BMGC_DS06784,BMG_DS024361,Brain Stem Infarctions | brain stem infarction
BMGC_DS06785,BMG_DS024365,coloboma of eyelid
BMGC_DS06786,BMG_DS024377,Peritoneal Fibrosis
BMGC_DS06787,BMG_DS024379,Emphysematous Cholecystitis | emphysematous cholecystitis
BMGC_DS06788,BMG_DS024393,Neonatal respiratory failure | Neonatal respiratory failure (disorder) | neonatal respiratory failure
BMGC_DS06789,BMG_DS024397,"Motor Neuron Disease | Motor Neuron Disease, Upper"
BMGC_DS06790,BMG_DS024398,Acute Confusional Migraine | Migraine Disorders
BMGC_DS06791,BMG_DS024401,"Headache Disorders, Primary | Primary Thunderclap Headache"
BMGC_DS06792,BMG_DS024422,Atrophic retina | Atrophic retina (disorder) | Retinal atrophy
BMGC_DS06793,BMG_DS024429,Bilateral cataracts | Bilateral cataracts (disorder) | Cataracts
BMGC_DS06794,BMG_DS024440,"Corneal dystrophy, epithelial basement membrane | epithelial basement membrane dystrophy"
BMGC_DS06795,BMG_DS024448,Ectropion of lower lid | Lower eyelid ectropion | Lower eyelid ectropion (disorder) | Lower eyelid turned out
BMGC_DS06796,BMG_DS024460,"Nystagmus, Pathologic | Temporary Nystagmus"
BMGC_DS06797,BMG_DS024461,"Nystagmus, Pathologic | Permanent Nystagmus"
BMGC_DS06798,BMG_DS024462,"Nystagmus, Pathologic | Unidirectional Nystagmus"
BMGC_DS06799,BMG_DS024463,"Multidirectional Nystagmus | Nystagmus, Pathologic"
BMGC_DS06800,BMG_DS024464,"Conjugate Nystagmus | Nystagmus, Pathologic"
BMGC_DS06801,BMG_DS024465,"Convergence Nystagmus | Nystagmus, Pathologic"
BMGC_DS06802,BMG_DS024466,"Fatigable Positional Nystagmus | Nystagmus, Pathologic"
BMGC_DS06803,BMG_DS024467,"Non-Fatigable Positional Nystagmus | Nystagmus, Pathologic"
BMGC_DS06804,BMG_DS024482,Congenital atransferrinaemia | Congenital atransferrinemia | Congenital atransferrinemia (disorder) | atransferrinemia
BMGC_DS06805,BMG_DS024514,"Headache Disorders, Primary | Primary Exertional Headache"
BMGC_DS06806,BMG_DS024522,subcutaneous panniculitis-like T-cell lymphoma
BMGC_DS06807,BMG_DS024523,acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)
BMGC_DS06808,BMG_DS024524,acute myeloid leukemia with minimal differentiation
BMGC_DS06809,BMG_DS024526,Cataract | Pseudoaphakia | cataract 20 multiple types
BMGC_DS06810,BMG_DS024527,pervasive developmental disorder
BMGC_DS06811,BMG_DS024529,Mulibrey Nanism | mulibrey nanism
BMGC_DS06812,BMG_DS024530,"Chronic Alcoholic Hepatitis | Hepatitis, Alcoholic"
BMGC_DS06813,BMG_DS024531,"Cryptogenic Chronic Hepatitis | Hepatitis, Chronic"
BMGC_DS06814,BMG_DS024532,Metabolic Syndrome | Metabolic Syndrome X | abdominal obesity-metabolic syndrome 1
BMGC_DS06815,BMG_DS024533,Lymphatic Diseases | Lymphatism
BMGC_DS06816,BMG_DS024534,Lymphatic Diseases | Status Lymphaticus
BMGC_DS06817,BMG_DS024535,opiate dependence
BMGC_DS06818,BMG_DS024536,Neuropapillitis | Optic Neuritis
BMGC_DS06819,BMG_DS024537,"Periapical Periodontitis | Periodontitis, Acute Nonsuppurative"
BMGC_DS06820,BMG_DS024538,Meningeal Plague | Plague
BMGC_DS06821,BMG_DS024539,Plague | Pneumonic Plague | pneumonic plague
BMGC_DS06822,BMG_DS024540,Pulmonary Embolism | Pulmonary Thromboembolisms
BMGC_DS06823,BMG_DS024545,"Lung, Hyperlucent | hyperlucent lung"
BMGC_DS06824,BMG_DS024546,retina neoplasm | retinal cancer
BMGC_DS06825,BMG_DS024547,optic nerve neoplasm
BMGC_DS06826,BMG_DS024548,Intracranial Hypotension | intracranial hypotension
BMGC_DS06827,BMG_DS024549,Neurodegenerative Diseases | Neurodegenerative Disorders | neurodegenerative disease
BMGC_DS06828,BMG_DS024550,"Hepatitis B, Chronic | chronic hepatitis B virus infection"
BMGC_DS06829,BMG_DS024551,"Hepatitis C, Chronic | chronic hepatitis C virus infection"
BMGC_DS06830,BMG_DS024553,"Chemical and Drug Induced Liver Injury, Chronic | Hepatitis, Chronic, Drug-Induced | drug-induced hepatitis"
BMGC_DS06831,BMG_DS024554,Schnitzler Syndrome | Schnitzler syndrome
BMGC_DS06832,BMG_DS024555,mood disorder
BMGC_DS06833,BMG_DS024558,Emotional polycythaemia | Emotional polycythemia | Spurious polycythaemia | Spurious polycythemia | Stress polycythaemia | Stress polycythemia | Stress polycythemia (disorder) | stress polycythemia
BMGC_DS06834,BMG_DS024559,atrial standstill
BMGC_DS06835,BMG_DS024560,muscular atrophy
BMGC_DS06836,BMG_DS024561,carcinoma of duodenum | duodenum cancer
BMGC_DS06837,BMG_DS024565,Non-Q wave myocardial infarction | Non-Q wave myocardial infarction (disorder)
BMGC_DS06838,BMG_DS024573,hypochondrogenesis
BMGC_DS06839,BMG_DS024575,renal agenesis
BMGC_DS06840,BMG_DS024576,cerebral meningioma
BMGC_DS06841,BMG_DS024577,Glycogen Storage Disease IXB | glycogen storage disease IXb
BMGC_DS06842,BMG_DS024579,Glycinuria with or without Oxalate Urolithiasis | hyperglycinuria
BMGC_DS06843,BMG_DS024591,"Anemia, Hemolytic, Autoimmune | Idiopathic Autoimmune Hemolytic Anemia"
BMGC_DS06844,BMG_DS024596,"Neutrophilia, Hereditary | hereditary neutrophilia"
BMGC_DS06845,BMG_DS024600,"Klinefelter Syndrome | Klinefelter Syndrome, Variants"
BMGC_DS06846,BMG_DS024602,Idiopathic hypercalciuria
BMGC_DS06847,BMG_DS024607,Atherosclerotic ischaemic disease | Atherosclerotic ischemic disease | Atherosclerotic occlusive disease | Atherosclerotic occlusive disease (disorder)
BMGC_DS06848,BMG_DS024609,"Motor Neuron Disease | Motor Neuron Disease, Secondary"
BMGC_DS06849,BMG_DS024610,"Amyotrophic Lateral Sclerosis | Amyotrophic Lateral Sclerosis, Guam Form | amyotrophic lateral sclerosis-parkinsonism-dementia complex | amyotrophic lateral sclerosis-parkinsonism/dementia complex 1"
BMGC_DS06850,BMG_DS024611,"Apraxia, oculomotor, Cogan type | ocular motor apraxia, Cogan type"
BMGC_DS06851,BMG_DS024613,EE - epileptic encephalopathy | Epileptic encephalopathy | Epileptic encephalopathy (disorder)
BMGC_DS06852,BMG_DS024614,schizophrenia 10
BMGC_DS06853,BMG_DS024615,Chandler syndrome | Chandler syndrome (disorder) | Chandler's syndrome | Chandler's syndrome (disorder)
BMGC_DS06854,BMG_DS024618,Elephantiasis | Elephantiasis Nostras Verrucosa | podoconiosis
BMGC_DS06855,BMG_DS024621,"Myositis | Myositis, Proliferative"
BMGC_DS06856,BMG_DS024629,nonsyndromic congenital nail disorder 3
BMGC_DS06857,BMG_DS024630,neurocutaneous melanocytosis
BMGC_DS06858,BMG_DS024633,Acrokeratoelastoidosis of Costa | punctate palmoplantar keratoderma type III
BMGC_DS06859,BMG_DS024634,mixed-type liposarcoma | myxoid/round cell liposarcoma
BMGC_DS06860,BMG_DS024635,composite lymphoma
BMGC_DS06861,BMG_DS024638,"Myopathies, Nemaline | Nemaline Myopathy, Childhood Onset | childhood-onset nemaline myopathy"
BMGC_DS06862,BMG_DS024640,"Congenital Fiber Type Disproportion | Myopathies, Structural, Congenital | congenital fiber-type disproportion myopathy"
BMGC_DS06863,BMG_DS024643,Exudative glomerulonephritis | Exudative glomerulonephritis (disorder) | exudative glomerulonephritis
BMGC_DS06864,BMG_DS024651,multiple self-healing squamous epithelioma
BMGC_DS06865,BMG_DS024653,(Dermatophytosis of the body) or (herpes circinatus) or (tinea corporis) | (Dermatophytosis of the body) or (herpes circinatus) or (tinea corporis) (disorder) | Dermatophytosis of the body | Dermatophytosis of the body (disorder) | Herpes circinatus | Tinea corporis | tinea corporis
BMGC_DS06866,BMG_DS024654,intrahepatic bile duct cancer | intrahepatic gall duct cancer
BMGC_DS06867,BMG_DS024655,esophageal cancer
BMGC_DS06868,BMG_DS024656,Nodding spasm | Salaam spasm | Salaam spasm (finding) | Spasmus nutans
BMGC_DS06869,BMG_DS024664,monilethrix
BMGC_DS06870,BMG_DS024665,"preauricular fistulae, congenital"
BMGC_DS06871,BMG_DS024673,Cercarial dermatitis | Clam digger's itch | Clam-digger's itch | Cutaneous schistosomiasis | Cutaneous schistosomiasis (disorder) | Infection by cercariae of schistosoma | Infection by cercariae of schistosoma (disorder) | Schistosomal cercarial dermatitis | Schistosome dermatitis | Swamp itch | Swimmer's itch | Swimmers' itch | cercarial dermatitis
BMGC_DS06872,BMG_DS024674,"Larva Migrans | Larva Migrans, Cutaneous | cutaneous larva migrans"
BMGC_DS06873,BMG_DS024676,oligoastrocytoma
BMGC_DS06874,BMG_DS024687,Pseudofolliculitis barbae | Pseudofolliculitis barbae (disorder)
BMGC_DS06875,BMG_DS024689,North Asian Tick Typhus | Siberian tick typhus | Spotted Fever Group Rickettsiosis
BMGC_DS06876,BMG_DS024698,Meibomianitis | Meibomianitis (disorder) | Meibomitis
BMGC_DS06877,BMG_DS024700,Hydrocephalus | Obstructive Hydrocephalus | obstructive hydrocephalus
BMGC_DS06878,BMG_DS024701,X-linked lymphoproliferative syndrome
BMGC_DS06879,BMG_DS024703,Borderline glaucoma | Borderline glaucoma (disorder) | Preglaucoma | Preglaucoma (disorder) | borderline glaucoma
BMGC_DS06880,BMG_DS024704,Pancoast tumor | malignant superior sulcus neoplasm
BMGC_DS06881,BMG_DS024706,thyroid gland carcinoma
BMGC_DS06882,BMG_DS024707,Pigmentation Disorders | obsolete incontinentia pigmenti achromians
BMGC_DS06883,BMG_DS024709,sexual dysfunction
BMGC_DS06884,BMG_DS024712,Necrotizing Arteritis | Polyarteritis Nodosa
BMGC_DS06885,BMG_DS024713,"Jackknife Seizures | Spasms, Infantile | West syndrome"
BMGC_DS06886,BMG_DS024719,Ewing sarcoma
BMGC_DS06887,BMG_DS024720,Cafe-au-lait macules with pulmonary stenosis | Café-au-lait macules with pulmonary stenosis | Café-au-lait macules with pulmonary stenosis (disorder) | Watson syndrome
BMGC_DS06888,BMG_DS024722,Myotonic Disorders | myotonic disease | myotonic dystrophy type 2 | myotonic syndrome
BMGC_DS06889,BMG_DS024726,Acute peritonsillitis | Angina tonsillaris | Peritonsillar abscess | Peritonsillar abscess (disorder) | Peritonsillar cellulitis | Peritonsillar cellulitis (disorder) | Quinsy
BMGC_DS06890,BMG_DS024729,Hypofibrinogenaemia | Hypofibrinogenemia | Hypofibrinogenemia (disorder)
BMGC_DS06891,BMG_DS024732,carcinoma
BMGC_DS06892,BMG_DS024734,skin squamous cell carcinoma
BMGC_DS06893,BMG_DS024735,CPDD - Calcium pyrophosphate deposition disease | CPPD - Calcium pyrophosphate deposition disease | Calcium pyrophosphate deposition disease | Calcium pyrophosphate deposition disease (disorder) | Chondrocalcinosis articularis | Chondrocalcinosis due to pyrophosphate crystals | Idiopathic articular chondrocalcinosis | Pseudogout | Pseudogout (disorder) | chondrocalcinosis
BMGC_DS06894,BMG_DS024743,Olfaction Disorders
BMGC_DS06895,BMG_DS024750,Cerebral Palsy | Congenital Cerebral Palsy
BMGC_DS06896,BMG_DS024772,endomyocardial fibrosis
BMGC_DS06897,BMG_DS024821,"Polymyositis | Polymyositis, Idiopathic | polymyositis"
BMGC_DS06898,BMG_DS024827,Synovial plica | Synovial plica (disorder) | synovial plica syndrome
BMGC_DS06899,BMG_DS024834,Group A Streptococcal Infections | Streptococcal Infections
BMGC_DS06900,BMG_DS024837,Anogenital human papilloma virus infection | Anogenital human papillomavirus infection | Anogenital human papillomavirus infection (disorder) | Genital wart virus infection | HPV - Anogenital human papilloma virus infection | WVI - Genital wart virus infection | anogenital human papillomavirus infection | anogenital venereal wart
BMGC_DS06901,BMG_DS024846,morpheaform basal cell carcinoma
BMGC_DS06902,BMG_DS024848,high grade glioma | malignant glioma
BMGC_DS06903,BMG_DS024850,Chiari malformation type II
BMGC_DS06904,BMG_DS024851,cystic disease of lung
BMGC_DS06905,BMG_DS024859,Infection mouth | Oral infection | Oral infection (disorder)
BMGC_DS06906,BMG_DS024884,(Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhea]) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) (disorder) | Bacterial gastroenteritis | Bacterial gastroenteritis (disorder) | Diarrhea-bact.GIT inf. | Diarrhoea-bact.GIT inf. | Dysentery | Gastroenteritis - bact. | Specific GIT infectious dis. | Specific gastrointestinal infectious disease
BMGC_DS06907,BMG_DS024901,O/E: uric acid renal calculus | Uric acid nephrolithiasis | Uric acid renal calculus | Uric acid renal calculus &/or O/E | Uric acid renal calculus &/or O/E (finding) | Uric acid renal calculus (disorder)
BMGC_DS06908,BMG_DS024961,Functional Gastrointestinal Disorders | Gastrointestinal Diseases
BMGC_DS06909,BMG_DS024971,adult spinal cord glioblastoma | adult spinal cord glioblastoma multiforme
BMGC_DS06910,BMG_DS024992,cerebral neuroblastoma
BMGC_DS06911,BMG_DS024994,adrenal gland neuroblastoma | adrenal neuroblastoma
BMGC_DS06912,BMG_DS024995,Allergy to edible egg | Allergy to edible egg (finding) | Allergy to eggs | egg allergy
BMGC_DS06913,BMG_DS024996,Allergy to peanut | Allergy to peanut (finding) | Allergy to peanuts | peanut allergy
BMGC_DS06914,BMG_DS024997,Pentalogy of Cantrell | Pentalogy of Cantrell (disorder) | pentalogy of Cantrell
BMGC_DS06915,BMG_DS025021,Spinal cord syndrome | Spinal cord syndrome (disorder) | tethered spinal cord syndrome
BMGC_DS06916,BMG_DS025045,anal canal carcinoma
BMGC_DS06917,BMG_DS025046,Viral gastritis | Viral gastritis (disorder) | viral gastritis
BMGC_DS06918,BMG_DS025047,Acute infective exacerbation of chronic obstructive airways disease | Acute infective exacerbation of chronic obstructive pulmonary disease | Acute infective exacerbation of chronic obstructive pulmonary disease (disorder)
BMGC_DS06919,BMG_DS025151,Maternal hypertension | Maternal hypertension (disorder)
BMGC_DS06920,BMG_DS025163,PSC - Primary sclerosing cholangitis | Primary sclerosing cholangitis | Primary sclerosing cholangitis (disorder) | primary sclerosing cholangitis
BMGC_DS06921,BMG_DS025206,Allergy to ketoprofen | Allergy to ketoprofen (finding) | Ketoprofen allergy | ketoprofen photoallergic dermatitis
BMGC_DS06922,BMG_DS025751,Benzoic acid allergy | Benzoic acid allergy (disorder) | benzoic acid allergic contact dermatitis
BMGC_DS06923,BMG_DS025980,Allergy to formaldehyde | Allergy to formaldehyde (finding) | Formaldehyde allergy | formaldehyde allergic contact dermatitis
BMGC_DS06924,BMG_DS026054,cephalosporin allergy
BMGC_DS06925,BMG_DS026063,Allergy to cefaclor | Allergy to cefaclor (finding) | Cefaclor allergy | cefaclor allergy
BMGC_DS06926,BMG_DS026064,Allergy to cefuroxime | Allergy to cefuroxime (finding) | Cefuroxime allergy | cefuroxime allergy
BMGC_DS06927,BMG_DS026067,Allergy to cefotaxime | Allergy to cefotaxime (finding) | Cefotaxime allergy | cefotaxime allergy
BMGC_DS06928,BMG_DS026068,Allergy to ceftazidime | Allergy to ceftazidime (finding) | Ceftazidime allergy | ceftazidime allergy
BMGC_DS06929,BMG_DS026070,Allergy to cefixime | Allergy to cefixime (finding) | Cefixime allergy | cefixime allergy
BMGC_DS06930,BMG_DS026073,Allergy to ceftriaxone | Allergy to ceftriaxone (finding) | Ceftriaxone allergy | ceftriaxone allergy
BMGC_DS06931,BMG_DS026621,Deficiency of guanidinoacetate methyltransferase | Deficiency of guanidinoacetate methyltransferase (disorder) | Guanidinoacetate methyltransferase deficiency | guanidinoacetate methyltransferase deficiency
BMGC_DS06932,BMG_DS026622,3-Methylglutaconic aciduria type 2 | 3-Methylglutaconic aciduria type 2 (disorder) | Barth syndrome
BMGC_DS06933,BMG_DS026623,3-Methylglutaconic aciduria type 3 | 3-Methylglutaconic aciduria type 3 (disorder) | 3-methylglutaconic aciduria type 3 | Costeff syndrome
BMGC_DS06934,BMG_DS026625,Generalised uridine diphosphate galactose-4-epimerase deficiency | Generalized uridine diphosphate galactose-4-epimerase deficiency | Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder) | generalized galactose epimerase deficiency
BMGC_DS06935,BMG_DS026626,Erythrocyte uridine diphosphate galactose-4-epimerase deficiency | Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder) | erythrocyte galactose epimerase deficiency
BMGC_DS06936,BMG_DS026631,Glycerol kinase deficiency - isolated | Glycerol kinase deficiency - isolated (disorder) | glycerol kinase deficiency | isolated glycerol kinase deficiency
BMGC_DS06937,BMG_DS026647,"Lesion, Superficial Radial Nerve | Radial Neuropathy"
BMGC_DS06938,BMG_DS026657,Inflammation of sacroiliac joint | Inflammation of sacroiliac joint (finding) | Sacroiliac joint inflamed | Sacroiliitis | Sacroiliitis (disorder)
BMGC_DS06939,BMG_DS026660,Spastic quadriparesis | Spastic quadriparesis (disorder) | Spastic tetraparesis
BMGC_DS06940,BMG_DS026666,thumb deformity
BMGC_DS06941,BMG_DS026673,Nut Hypersensitivity | nut allergy | obsolete nut allergic reaction
BMGC_DS06942,BMG_DS026679,latex allergy
BMGC_DS06943,BMG_DS026682,Carotid Artery Diseases | Carotid Atherosclerosis
BMGC_DS06944,BMG_DS026693,Proteus septicaemia | Proteus septicemia | Proteus septicemia (disorder)
BMGC_DS06945,BMG_DS026694,ureter transitional cell carcinoma
BMGC_DS06946,BMG_DS026698,Escherichia coli urinary tract infection | Urinary tract infection caused by Escherichia coli | Urinary tract infection caused by Escherichia coli (disorder)
BMGC_DS06947,BMG_DS026699,Proteus UTI (urinary tract infection) | Proteus urinary tract infection | Proteus urinary tract infection (disorder)
BMGC_DS06948,BMG_DS026730,Gonococcal seminal vesiculitis | Gonococcal seminal vesiculitis (disorder) | gonococcal seminal vesiculitis | seminal vesicle acute gonorrhea
BMGC_DS06949,BMG_DS026738,Chronic Spontaneous Urticaria | Chronic Urticaria | chronic idiopathic urticaria | chronic urticaria
BMGC_DS06950,BMG_DS026743,Inflammation of large intestine | Inflammation of large intestine (disorder)
BMGC_DS06951,BMG_DS026784,Recurrent sinusitis | Recurrent sinusitis (disorder)
BMGC_DS06952,BMG_DS026802,Decompensated cardiac failure | Decompensated cardiac failure (disorder)
BMGC_DS06953,BMG_DS026804,Recurrent upper respiratory tract infection | Recurrent upper respiratory tract infection (disorder)
BMGC_DS06954,BMG_DS026808,Exacerbation of multiple sclerosis | Exacerbation of multiple sclerosis (disorder) | Multiple sclerosis (MS) exacerbation
BMGC_DS06955,BMG_DS026809,Complete Hearing Loss | Deafness
BMGC_DS06956,BMG_DS026860,retroperitoneal sarcoma
BMGC_DS06957,BMG_DS026863,Gastric retention | Gastric retention (disorder)
BMGC_DS06958,BMG_DS026874,alpha-thalassemia myelodysplasia syndrome | alpha-thalassemia-myelodysplastic syndrome
BMGC_DS06959,BMG_DS026885,Hypoglossal Nerve Diseases | Hypoglossal Nerve Palsy
BMGC_DS06960,BMG_DS026889,oral cavity squamous cell carcinoma
BMGC_DS06961,BMG_DS026894,bone osteosarcoma
BMGC_DS06962,BMG_DS026895,Ewing sarcoma of bone
BMGC_DS06963,BMG_DS026896,skin pilomatrix carcinoma
BMGC_DS06964,BMG_DS026917,epiglottis cancer
BMGC_DS06965,BMG_DS026926,Alcohol Withdrawal Seizures
BMGC_DS06966,BMG_DS026958,Varicella Zoster Virus Infection | varicella zoster infection
BMGC_DS06967,BMG_DS026972,Costello syndrome | Costello syndrome (disorder)
BMGC_DS06968,BMG_DS026975,"nodular tenosynovitis | tenosynovial giant cell tumor, localized type"
BMGC_DS06969,BMG_DS026982,Sepsis caused by enterococcus | Sepsis due to enterococcus | Septicaemia caused by enterococcus | Septicaemia due to enterococcus | Septicaemia due to enterococcus (disorder) | Septicemia caused by enterococcus | Septicemia caused by enterococcus (disorder) | Septicemia due to enterococcus
BMGC_DS06970,BMG_DS027011,Atypical absence seizure | Atypical absence seizure (finding)
BMGC_DS06971,BMG_DS027020,laryngeal carcinoma
BMGC_DS06972,BMG_DS027022,idiopathic scoliosis
BMGC_DS06973,BMG_DS027024,adrenal medulla cancer | adrenal medulla neoplasm
BMGC_DS06974,BMG_DS027025,binge eating disorder
BMGC_DS06975,BMG_DS027027,Cerebrovascular Disorders | Cerebrovascular Occlusion
BMGC_DS06976,BMG_DS027030,lymph node cancer | lymph node neoplasm
BMGC_DS06977,BMG_DS027036,Hereditary protein C deficiency | Hereditary protein C deficiency (disorder) | hereditary thrombophilia due to congenital protein C deficiency
BMGC_DS06978,BMG_DS027037,Harlequin type ichthyosis | autosomal recessive congenital ichthyosis 4B
BMGC_DS06979,BMG_DS027039,Hyperhomocysteinemia | Hyperhomocysteinemia (disorder) | hyperhomocysteinemia
BMGC_DS06980,BMG_DS027041,lung sarcoma
BMGC_DS06981,BMG_DS027042,lymphoid neoplasm | lymphoma
BMGC_DS06982,BMG_DS027044,Hyperornithinaemia | Hyperornithinemia | Hyperornithinemia (disorder)
BMGC_DS06983,BMG_DS027047,microphthalmia with limb anomalies
BMGC_DS06984,BMG_DS027048,Chronic interstitial cystitis | Chronic interstitial cystitis (disorder) | IC - Interstitial cystitis | Interstitial cystitis | PBS - Painful bladder syndrome | Painful bladder syndrome | chronic interstitial cystitis
BMGC_DS06985,BMG_DS027049,Infection of bladder | Infective cystitis | Infective cystitis (disorder)
BMGC_DS06986,BMG_DS027051,breast malignant phyllodes tumor | malignant phyllodes tumor
BMGC_DS06987,BMG_DS027052,ureter carcinoma
BMGC_DS06988,BMG_DS027057,prostate carcinoma
BMGC_DS06989,BMG_DS027058,Carotid Artery Diseases | External Carotid Artery Diseases
BMGC_DS06990,BMG_DS027059,cardiac arrest
BMGC_DS06991,BMG_DS027060,"Lung Diseases, Obstructive | obstructive lung disease"
BMGC_DS06992,BMG_DS027063,Aggressive Periodontitis | Periodontosis | periodontosis
BMGC_DS06993,BMG_DS027064,"Shock, Septic | Toxic Shock Syndrome | toxic shock syndrome"
BMGC_DS06994,BMG_DS027065,Sneddon-Wilkinson disease | Sneddon-Wilkinson syndrome | Subcorneal pustular dermatosis | Subcorneal pustular dermatosis (disorder) | subcorneal pustular dermatosis
BMGC_DS06995,BMG_DS027066,"Arteriosclerotic Dementia | Dementia, Vascular"
BMGC_DS06996,BMG_DS027067,cocaine dependence
BMGC_DS06997,BMG_DS027068,Activated Protein C Resistance
BMGC_DS06998,BMG_DS027069,Hepatopulmonary Syndrome | hepatopulmonary syndrome
BMGC_DS06999,BMG_DS027070,Hemostatic Disorders | Vascular Hemostatic Disorders | vascular hemostatic disease
BMGC_DS07000,BMG_DS027072,choroidal neovascularization
BMGC_DS07001,BMG_DS027074,vulva carcinoma | vulvar carcinoma
BMGC_DS07002,BMG_DS027076,Radial Neuropathy | Radial Tunnel Syndrome
BMGC_DS07003,BMG_DS027077,"Congenital Nephrogenic Diabetes Insipidus | Diabetes Insipidus, Nephrogenic"
BMGC_DS07004,BMG_DS027079,Hashimoto Disease | Hashimoto thyroiditis
BMGC_DS07005,BMG_DS027081,"Esophageal reflux with esophagitis | Gastro-esophageal reflux disease with esophagitis | Gastro-oesophageal reflux disease with oesophagitis | Gastroesophageal reflux disease with esophagitis | Gastroesophageal reflux disease with esophagitis (disorder) | Gastroesophageal reflux disease with oesophagitis | Gastrooesophageal reflux disease, unspecified | Oesophageal reflux with oesophagitis | Peptic esophagitis | Peptic oesophagitis | Reflux esophagitis | Reflux oesophagitis"
BMGC_DS07006,BMG_DS027082,hereditary breast ovarian cancer syndrome
BMGC_DS07007,BMG_DS027083,hereditary Wilms tumor | hereditary Wilms' tumor
BMGC_DS07008,BMG_DS027084,brain stem glioma
BMGC_DS07009,BMG_DS027085,brain stem cancer | brainstem neoplasm
BMGC_DS07010,BMG_DS027086,ovarian carcinoma
BMGC_DS07011,BMG_DS027091,"Hyperlipidaemia, group A | Hyperlipidemia, group A | Hyperlipidemia, group A (disorder)"
BMGC_DS07012,BMG_DS027092,Crohn Disease | Terminal Ileitis
BMGC_DS07013,BMG_DS027093,Crohn's disease | Crohn's disease (& [regional enteritis]) | Crohn's disease (& [regional enteritis]) (disorder) | Crohn's regional enteritis | Enteritis - regional | Regional enteritis | Regional enteritis (disorder) | Regional enteritis - Crohn
BMGC_DS07014,BMG_DS027094,complete hydatidiform mole
BMGC_DS07015,BMG_DS027095,breast carcinoma
BMGC_DS07016,BMG_DS027099,"Tuberculosis, Extrapulmonary | extrapulmonary tuberculosis"
BMGC_DS07017,BMG_DS027104,depersonalization disorder
BMGC_DS07018,BMG_DS027105,lung carcinoma
BMGC_DS07019,BMG_DS027106,Bacterial sepsis | Bacterial sepsis (disorder) | Bacterial septicaemia | Bacterial septicemia
BMGC_DS07020,BMG_DS027107,"Haemophilia | Hemophilia | Hemophilia (disorder) | Hemophilia, NOS | hemophilia"
BMGC_DS07021,BMG_DS027109,tongue cancer
BMGC_DS07022,BMG_DS027110,Ewing sarcoma | peripheral primitive neuroectodermal tumor
BMGC_DS07023,BMG_DS027118,muscle cancer
BMGC_DS07024,BMG_DS027148,hemangioma of subcutaneous tissue
BMGC_DS07025,BMG_DS027149,hemangioma of spleen | splenic hemangioma
BMGC_DS07026,BMG_DS027163,facial cleft
BMGC_DS07027,BMG_DS027164,46 XX gonadal dysgenesis
BMGC_DS07028,BMG_DS027165,Gonadal dysgenesis XX type deafness | Perrault syndrome
BMGC_DS07029,BMG_DS027166,familial isolated congenital asplenia
BMGC_DS07030,BMG_DS027194,gastrointestinal system cancer
BMGC_DS07031,BMG_DS027206,Tardive Dyskinesia | tardive dyskinesia
BMGC_DS07032,BMG_DS027211,"Muscular Dystrophies, Limb-Girdle | limb-girdle muscular dystrophy"
BMGC_DS07033,BMG_DS027221,Blepharitis | Blepharitis (disorder) | Ciliary blepharitis | Inflammation of lid margin | Marginal blepharitis | Marginal blepharitis (disorder)
BMGC_DS07034,BMG_DS027230,malignant oculomotor nerve tumor | oculomotor nerve cancer
BMGC_DS07035,BMG_DS027253,Autosomal dominant tubulointerstitial disease | Autosomal recessive medullary cystic disease | Familial juvenile medullary cystic kidney disease | Familial juvenile nephronophthisis | Nephronophthisis | Nephronophthisis (disorder) | nephronophthisis
BMGC_DS07036,BMG_DS027254,skin hemangioma
BMGC_DS07037,BMG_DS027255,Mineral deficiency | Mineral deficiency (disorder)
BMGC_DS07038,BMG_DS027256,parathyroid carcinoma | parathyroid gland carcinoma
BMGC_DS07039,BMG_DS027257,"(Acrocephalo (& [poly]) syndactyly) or (Apert's syndrome) | (Acrocephalo (& [poly]) syndactyly) or (Apert's syndrome) (disorder) | Acrocephalopolysyndactyly | Acrocephalopolysyndactyly (disorder) | Acrocephalosyndactyly | Apert's syndrome | Multiple developmental anomalies or syndromes, unspecified | Warburg micro syndrome 1 | Warburg micro syndrome 2 | Warburg micro syndrome 3 | Warburg micro syndrome 4 | acrocephalopolysyndactyly"
BMGC_DS07040,BMG_DS027259,"Central Diabetes Insipidus | Diabetes Insipidus, Neurogenic | central diabetes insipidus | neurohypophyseal diabetes insipidus"
BMGC_DS07041,BMG_DS027260,Abetalipoproteinaemia | Abetalipoproteinemia | Abetalipoproteinemia (disorder) | Acanthocytosis | Acanthocytosis (finding) | Spiny prickle cells present
BMGC_DS07042,BMG_DS027288,Community-Acquired Pneumonia
BMGC_DS07043,BMG_DS027291,Disseminated atypical mycobacterial infection | Disseminated atypical mycobacterial infection (disorder)
BMGC_DS07044,BMG_DS027292,Neurogenic Bowel | neurogenic bowel
BMGC_DS07045,BMG_DS027293,Chorea | Hereditary Chorea
BMGC_DS07046,BMG_DS027295,"Hereditary Sensory and Autonomic Neuropathies | Sensory Neuropathy, Hereditary | hereditary sensory neuropathy | sensory peripheral neuropathy"
BMGC_DS07047,BMG_DS027296,Becker muscular dystrophy | Benign congenital myopathy | Benign congenital myopathy (disorder) | Congenital hereditary muscular dystrophy | Congenital hereditary muscular dystrophy (disorder)
BMGC_DS07048,BMG_DS027297,Congenital muscular dystrophy | Congenital muscular dystrophy (disorder) | congenital muscular dystrophy
BMGC_DS07049,BMG_DS027298,Ear infection | Infection of ear | Infection of ear (disorder) | ear infection
BMGC_DS07050,BMG_DS027299,colon carcinoma
BMGC_DS07051,BMG_DS027300,gastric carcinoma | stomach carcinoma
BMGC_DS07052,BMG_DS027301,serotonin syndrome
BMGC_DS07053,BMG_DS027304,bladder carcinoma | urinary bladder carcinoma
BMGC_DS07054,BMG_DS027305,female reproductive organ cancer
BMGC_DS07055,BMG_DS027307,skin carcinoma
BMGC_DS07056,BMG_DS027309,Idiopathic hypertrophic subaortic stenosis | Idiopathic hypertrophic subaortic stenosis (disorder)
BMGC_DS07057,BMG_DS027311,urethra cancer
BMGC_DS07058,BMG_DS027312,bone carcinoma | metastatic carcinoma in the bone
BMGC_DS07059,BMG_DS027317,Hepatitis B | Hepatitis B infection | SH - Serum hepatitis | Serum hepatitis | Type B viral hepatitis | Viral hepatitis B without mention of hepatic coma | Viral hepatitis type B | Viral hepatitis type B (disorder)
BMGC_DS07060,BMG_DS027318,Battey disease | Battey disease (disorder) | Pulmonary Mycobacterium avium complex infection | Pulmonary Mycobacterium avium complex infection (disorder) | Pulmonary Mycobacterium avium-intracellulare infection | Pulmonary mycobacterium avium-intracellulare infection | Pulmonary mycobacterium intracellulare infection
BMGC_DS07061,BMG_DS027319,Brachial Plexus Neuropathies | brachial plexus neuropathy
BMGC_DS07062,BMG_DS027320,Heinz Body Anemias | Heinz body anemia
BMGC_DS07063,BMG_DS027321,SS - Systemic sclerosis | Systemic scleroderma | Systemic sclerosis | Systemic sclerosis (disorder) | Thibierge-Weissenbach syndrome
BMGC_DS07064,BMG_DS027323,"Candidiasis, Vulvovaginal | vulvovaginal candidiasis"
BMGC_DS07065,BMG_DS027325,"embryonal tumor with multilayered rosettes, C19MC-altered | ependymoblastoma"
BMGC_DS07066,BMG_DS027327,Migraine Disorders | Sick Headaches
BMGC_DS07067,BMG_DS027329,congenital nystagmus
BMGC_DS07068,BMG_DS027332,Chronic peptic ulcer | Chronic peptic ulcer (disorder)
BMGC_DS07069,BMG_DS027335,acquired gastric outlet stenosis | acquired hypertrophic pyloric stenosis
BMGC_DS07070,BMG_DS027336,"Nerve root disorder | Nerve root disorder (disorder) | Radiculopathy | Radiculopathy (disorder) | Radiculopathy, unspecified | radiculopathy"
BMGC_DS07071,BMG_DS027337,Spinal Muscular Atrophies of Childhood | childhood spinal muscular atrophy
BMGC_DS07072,BMG_DS027339,"Dappled metaphysis syndrome | SEMD - spondyloepimetaphyseal dysplasia, Strudwick type | Spondyloepimetaphyseal dysplasia, Strudwick type | Spondyloepimetaphyseal dysplasia, Strudwick type (disorder) | Strudwick syndrome | spondyloepimetaphyseal dysplasia, Strudwick type"
BMGC_DS07073,BMG_DS027342,hypertrophic pyloric stenosis | inherited hypertrophic pyloric stenosis
BMGC_DS07074,BMG_DS027350,Adrenogenital disorder | Adrenogenital disorder (disorder) | Adrenogenital syndrome | Androgenital syndrome | congenital adrenal hyperplasia
BMGC_DS07075,BMG_DS027353,Bile duct calculus (& [without mention of cholecystitis]) | Bile duct calculus (& [without mention of cholecystitis]) (disorder) | Bile duct calculus without mention of cholecystitis | Calculus of common bile duct | Calculus of common bile duct (disorder) | Choledocholithiasis | choledocholithiasis
BMGC_DS07076,BMG_DS027355,Disorder of thyrocalcitonin secretion | Disorder of thyrocalcitonin secretion (disorder) | thyrocalcitonin secretion disease
BMGC_DS07077,BMG_DS027363,Conjugate gaze palsy | Palsy of conjugate gaze | Palsy of conjugate gaze (disorder) | conjugate gaze palsy
BMGC_DS07078,BMG_DS027366,"(Anaemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) | (Anaemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) (disorder) | (Anemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) | Anaemias or other erythrocyte disorders, unspecified | Blackfan - Diamond syndrome | Congenital aplastic anaemia | Congenital aplastic anemia | Constitutional aplastic anaemia | Constitutional aplastic anaemia (disorder) | Constitutional aplastic anemia | Constitutional aplastic anemia (disorder) | Hypoplastic anaemia - familial | Hypoplastic anemia - familial | Pancytopenia with malformations | congenital hypoplastic anemia"
BMGC_DS07079,BMG_DS027369,Acne | Acne (disorder) | Acne Vulgaris | acne
BMGC_DS07080,BMG_DS027375,nasal cavity cancer
BMGC_DS07081,BMG_DS027376,CVD - cardiovascular disease | CVS disease - cardiovascular system disease | Cardiovascular disease | Cardiovascular disorder | Cardiovascular system disease | Disorder of cardiovascular system | Disorder of cardiovascular system (disorder) | Disorder of circulatory system | Disorder of the circulatory system
BMGC_DS07082,BMG_DS027378,appendix carcinoma
BMGC_DS07083,BMG_DS027380,Acute peptic ulcer | Acute peptic ulcer (disorder)
BMGC_DS07084,BMG_DS027386,preterm premature rupture of the membranes
BMGC_DS07085,BMG_DS027393,Bacterial respiratory infection | Bacterial respiratory infection (disorder)
BMGC_DS07086,BMG_DS027394,Bacterial upper respiratory infection | Bacterial upper respiratory infection (disorder)
BMGC_DS07087,BMG_DS027395,Bacterial lower respiratory infection | Bacterial lower respiratory infection (disorder)
BMGC_DS07088,BMG_DS027399,Bacterial UTI (urinary tract infection) | Bacterial urinary infection | Bacterial urinary infection (disorder) | bacterial urinary tract infection
BMGC_DS07089,BMG_DS027410,Viral ear infection | Viral ear infection (disorder)
BMGC_DS07090,BMG_DS027413,Fungal ear infection | Fungal ear infection (disorder)
BMGC_DS07091,BMG_DS027426,Floating-Harbor syndrome | Floating-harbor syndrome
BMGC_DS07092,BMG_DS027429,Infective otitis media | Infective otitis media (disorder)
BMGC_DS07093,BMG_DS027430,Infective blepharitis | Infective blepharitis (disorder)
BMGC_DS07094,BMG_DS027450,Infective laryngitis | Infective laryngitis (disorder)
BMGC_DS07095,BMG_DS027502,Vitreomacular traction syndrome | Vitreomacular traction syndrome (disorder)
BMGC_DS07096,BMG_DS027506,Severe NPDR (nonproliferative diabetic retinopathy) | Severe nonproliferative diabetic retinopathy | Severe nonproliferative retinopathy | Severe nonproliferative retinopathy due to diabetes mellitus | Severe nonproliferative retinopathy due to diabetes mellitus (disorder) | severe nonproliferative diabetic retinopathy
BMGC_DS07097,BMG_DS027513,Diabetic macular edema | Diabetic macular oedema | Macular edema due to diabetes mellitus | Macular edema due to diabetes mellitus (disorder) | Macular oedema due to diabetes mellitus | diabetic macular edema
BMGC_DS07098,BMG_DS027518,Cone Dystrophy | cone dystrophy
BMGC_DS07099,BMG_DS027519,Choroidal dystrophy | Choroidal dystrophy (disorder)
BMGC_DS07100,BMG_DS027520,Macular dystrophy | Macular dystrophy (disorder)
BMGC_DS07101,BMG_DS027522,North Carolina macular dystrophy | North Carolina macular dystrophy (disorder)
BMGC_DS07102,BMG_DS027523,basal laminar drusen
BMGC_DS07103,BMG_DS027530,retinal hemangioblastoma
BMGC_DS07104,BMG_DS027532,eye lymphoma
BMGC_DS07105,BMG_DS027558,Disorder of macula of retina | Disorder of macula of retina (disorder) | Macular disease | Macular disorder | Maculopathy
BMGC_DS07106,BMG_DS027563,Anhydramnios | Anhydramnios (disorder)
BMGC_DS07107,BMG_DS027575,Functional visual loss | Functional visual loss (disorder) | Nonphysiologic acuity loss | Nonphysiologic vision loss
BMGC_DS07108,BMG_DS027584,Severe chronic obstructive pulmonary disease | Severe chronic obstructive pulmonary disease (disorder)
BMGC_DS07109,BMG_DS027588,"Familial Hypophosphatemic Rickets | Hypophosphatemic Rickets, X-Linked Dominant | X-linked dominant hypophosphatemic rickets"
BMGC_DS07110,BMG_DS027589,glottis carcinoma
BMGC_DS07111,BMG_DS027591,bile duct carcinoma
BMGC_DS07112,BMG_DS027592,myelodysplastic syndrome associated with isolated del(5q)
BMGC_DS07113,BMG_DS027593,"Amyloidosis, Familial | hereditary amyloidosis"
BMGC_DS07114,BMG_DS027595,Mononeuropathies | Mononeuropathy Multiplex
BMGC_DS07115,BMG_DS027596,gastrointestinal lymphoma
BMGC_DS07116,BMG_DS027598,"Infarction, Middle Cerebral Artery | Middle Cerebral Artery Thrombosis"
BMGC_DS07117,BMG_DS027599,"Aneurysm, Anterior Communicating Artery | Intracranial Aneurysm"
BMGC_DS07118,BMG_DS027600,"Infarction, Middle Cerebral Artery | middle cerebral artery infarction"
BMGC_DS07119,BMG_DS027601,(Blood urate (& serum level)) or (hyperuricaemia) | (Blood urate (& serum level)) or (hyperuricaemia) (procedure) | (Blood urate (& serum level)) or (hyperuricemia) | (Blood urate raised) or (hyperuricaemia) | (Blood urate raised) or (hyperuricaemia) (finding) | (Blood urate raized) or (hyperuricemia) | Blood urate | Blood urate raised | Hyperuricaemia | Hyperuricaemia (disorder) | Hyperuricemia | Hyperuricemia (disorder) | Serum uric acid level | Urate - blood | Uricacidaemia | Uricacidemia | hyperuricemia | obsolete hyperuricemia
BMGC_DS07120,BMG_DS027605,Acute diarrhea | Acute diarrhea (disorder) | Acute diarrhoea | acute diarrhea
BMGC_DS07121,BMG_DS027606,Diabetic peripheral neuropathy | Peripheral neuropathy due to diabetes mellitus | Peripheral neuropathy due to diabetes mellitus (disorder)
BMGC_DS07122,BMG_DS027608,kidney cancer
BMGC_DS07123,BMG_DS027609,malignant fibrous histiocytoma of bone | undifferentiated high grade pleomorphic sarcoma of bone
BMGC_DS07124,BMG_DS027610,cerebellar astrocytoma
BMGC_DS07125,BMG_DS027611,maxillary sinus cancer | maxillary sinus carcinoma
BMGC_DS07126,BMG_DS027616,substance abuse
BMGC_DS07127,BMG_DS027628,"Aortic Aneurysm, Ruptured | Aortic Rupture | aortic aneurysm"
BMGC_DS07128,BMG_DS027638,Recurrent bronchitis
BMGC_DS07129,BMG_DS027641,Cardiac Events | Cardiovascular Diseases
BMGC_DS07130,BMG_DS027644,Cerebellar vermis atrophy
BMGC_DS07131,BMG_DS027646,cerebritis
BMGC_DS07132,BMG_DS027647,"Radiculopathy | Radiculopathy, Cervical"
BMGC_DS07133,BMG_DS027650,Acute Chest Syndrome | acute chest syndrome
BMGC_DS07134,BMG_DS027658,Conus Medullaris Syndrome | Spinal Cord Compression
BMGC_DS07135,BMG_DS027659,Bacterial cystitis | Bacterial cystitis (disorder) | Bladder infection due to Bacteria
BMGC_DS07136,BMG_DS027662,Granulomatous dermatitis | granulomatous dermatitis
BMGC_DS07137,BMG_DS027666,Dystonic Disorders | Focal Dystonia | focal dystonia
BMGC_DS07138,BMG_DS027675,gastric leiomyosarcoma
BMGC_DS07139,BMG_DS027677,Immune complex glomerulonephritis | Immune-complex glomerulonephritis | Immune-complex glomerulonephritis (disorder) | immune-complex glomerulonephritis
BMGC_DS07140,BMG_DS027689,Chronic hiccough | Chronic hiccoughs | Chronic hiccup | Chronic hiccup (disorder) | Chronic hiccups | chronic hiccup
BMGC_DS07141,BMG_DS027690,osteonecrosis
BMGC_DS07142,BMG_DS027691,Eosinophilia | Hypereosinophilia
BMGC_DS07143,BMG_DS027692,"Hyperlipoproteinemia Type II | Hyperlipoproteinemia Type IIa | hypercholesterolemia, familial, 1"
BMGC_DS07144,BMG_DS027693,Isolated Systolic Hypertension
BMGC_DS07145,BMG_DS027694,Hypertensive emergency | Hypertensive emergency (disorder)
BMGC_DS07146,BMG_DS027695,Hypertensive Crisis | Hypertensive Urgency | hypertensive urgency
BMGC_DS07147,BMG_DS027704,End Stage Liver Disease
BMGC_DS07148,BMG_DS027708,Chronic lung disease | Chronic lung disease (disorder)
BMGC_DS07149,BMG_DS027714,"Myelitis, Necrotizing | Myelitis, Transverse"
BMGC_DS07150,BMG_DS027715,septal myocardial infarction
BMGC_DS07151,BMG_DS027721,Febrile Neutropenia
BMGC_DS07152,BMG_DS027726,Recurrent otitis media
BMGC_DS07153,BMG_DS027727,Ovarian failure | Ovarian failure (disorder)
BMGC_DS07154,BMG_DS027730,parotid gland cancer
BMGC_DS07155,BMG_DS027732,Peroneal Neuropathies | peroneal neuropathy
BMGC_DS07156,BMG_DS027747,Erythrodermic psoriasis | Erythrodermic psoriasis (disorder) | Exfoliative dermatitis due to psoriasis | Exfoliative psoriasis | Psoriasis vulgaris | Psoriasis vulgaris (disorder)
BMGC_DS07157,BMG_DS027749,Radial Neuropathy | radial neuropathy
BMGC_DS07158,BMG_DS027754,Primary biliary cirrhosis co-occurrent with systemic scleroderma | Primary biliary cirrhosis co-occurrent with systemic scleroderma (disorder) | Reynolds syndrome
BMGC_DS07159,BMG_DS027755,"HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED | hemolytic disease of fetus and newborn, RH-induced"
BMGC_DS07160,BMG_DS027758,"Arthritis, Sacroiliac | arthritis, sacroiliac"
BMGC_DS07161,BMG_DS027759,"Scleroderma, Limited | limited cutaneous systemic sclerosis | limited scleroderma"
BMGC_DS07162,BMG_DS027761,sella turcica neoplasm
BMGC_DS07163,BMG_DS027770,Cellulitis or abscess of soft tissues of the mouth | Submandibular abscess | uvulitis
BMGC_DS07164,BMG_DS027772,supraglottis squamous cell carcinoma
BMGC_DS07165,BMG_DS027777,athyreosis
BMGC_DS07166,BMG_DS027778,oncocytic carcinoma of the thyroid | thyroid Hurthle cell carcinoma
BMGC_DS07167,BMG_DS027790,coumarin resistance
BMGC_DS07168,BMG_DS027794,Cochlear Neuritis | Vestibulocochlear Nerve Diseases
BMGC_DS07169,BMG_DS027795,Cochlear Nerve Diseases | Vestibulocochlear Nerve Diseases
BMGC_DS07170,BMG_DS027796,Vestibular Nerve Diseases | Vestibulocochlear Nerve Diseases
BMGC_DS07171,BMG_DS027797,adrenal gland cancer
BMGC_DS07172,BMG_DS027798,"Alcohol Withdrawal Delirium | Autonomic Hyperactivity, Alcohol Withdrawal Associated"
BMGC_DS07173,BMG_DS027799,"Alzheimer Disease | Alzheimer Disease, Early Onset"
BMGC_DS07174,BMG_DS027800,"Amblyopia | Amblyopia, Developmental"
BMGC_DS07175,BMG_DS027801,"Amblyopia | Amblyopia, Suppression | strabismic amblyopia | suppression amblyopia"
BMGC_DS07176,BMG_DS027802,"Amino Acid Metabolism, Inborn Errors | Amino Acid Metabolism, Inherited Disorders"
BMGC_DS07177,BMG_DS027803,childhood apraxia of speech
BMGC_DS07178,BMG_DS027804,Chiari malformation type I
BMGC_DS07179,BMG_DS027807,cerebral astrocytoma | malignant astrocytoma
BMGC_DS07180,BMG_DS027808,"Ataxia | Tremor, Rubral"
BMGC_DS07181,BMG_DS027810,Autonomic Nervous System Diseases | Peripheral Autonomic Nervous System Diseases
BMGC_DS07182,BMG_DS027811,"Autonomic Nervous System Diseases | Nervous System Diseases, Parasympathetic | parasympathetic nervous system disorder"
BMGC_DS07183,BMG_DS027812,"Autonomic Nervous System Diseases | Nervous System Diseases, Sympathetic | sympathetic nervous system disorder"
BMGC_DS07184,BMG_DS027813,Back Pain | Vertebrogenic Pain Syndrome
BMGC_DS07185,BMG_DS027814,Basal Ganglia Diseases | Lenticulostriate Disorders
BMGC_DS07186,BMG_DS027815,biliary tract cancer
BMGC_DS07187,BMG_DS027816,"Urinary Bladder Neurogenesis | Urinary Bladder, Neurogenic | obsolete neurogenic bladder"
BMGC_DS07188,BMG_DS027817,"Neurogenic Urinary Bladder, Spastic | Urinary Bladder, Neurogenic | obsolete neurogenic bladder"
BMGC_DS07189,BMG_DS027818,"Blindness | Blindness, Monocular"
BMGC_DS07190,BMG_DS027823,"Brain Diseases, Metabolic | Central Nervous System Metabolic Disorders"
BMGC_DS07191,BMG_DS027824,brain cancer | primary brain neoplasm
BMGC_DS07192,BMG_DS027825,brain cancer
BMGC_DS07193,BMG_DS027826,Carotid Artery Diseases | Internal Carotid Artery Diseases
BMGC_DS07194,BMG_DS027827,"Arterial Diseases, Common Carotid | Carotid Artery Diseases"
BMGC_DS07195,BMG_DS027828,Carotid Artery Thrombosis | Common Carotid Artery Thrombosis
BMGC_DS07196,BMG_DS027829,Carotid Artery Thrombosis | External Carotid Artery Thrombosis
BMGC_DS07197,BMG_DS027830,Carotid Artery Thrombosis | Internal Carotid Artery Thrombosis
BMGC_DS07198,BMG_DS027832,"Catatonia | Catatonia, Malignant"
BMGC_DS07199,BMG_DS027834,"Aneurysm, Basilar Artery | Intracranial Aneurysm"
BMGC_DS07200,BMG_DS027835,Brain Aneurysm | Intracranial Aneurysm | brain aneurysm
BMGC_DS07201,BMG_DS027836,Giant Intracranial Aneurysm | Intracranial Aneurysm
BMGC_DS07202,BMG_DS027837,"Intracranial Aneurysm | Mycotic Aneurysm, Intracranial"
BMGC_DS07203,BMG_DS027838,Intracranial Arteriosclerosis | Intracranial Atherosclerosis
BMGC_DS07204,BMG_DS027839,"Cerebral Infarction | Cerebral Infarction, Left Hemisphere"
BMGC_DS07205,BMG_DS027840,"Cerebral Infarction | Cerebral Infarction, Right Hemisphere"
BMGC_DS07206,BMG_DS027841,Anterior Choroidal Artery Infarction | Cerebral Infarction
BMGC_DS07207,BMG_DS027842,Cerebral Infarction | Subcortical Infarction
BMGC_DS07208,BMG_DS027843,"Carotid Circulation Transient Ischemic Attack | Ischemic Attack, Transient"
BMGC_DS07209,BMG_DS027844,"Ischemic Attack, Transient | Transient Ischemic Attack, Vertebrobasilar Circulation"
BMGC_DS07210,BMG_DS027845,"Crescendo Transient Ischemic Attacks | Ischemic Attack, Transient"
BMGC_DS07211,BMG_DS027846,"Brain Stem Ischemia, Transient | Ischemic Attack, Transient"
BMGC_DS07212,BMG_DS027847,"Cerebral Palsy | Cerebral Palsy, Mixed | mixed cerebral palsy"
BMGC_DS07213,BMG_DS027848,"Cerebral Palsy | Cerebral Palsy, Rolandic Type"
BMGC_DS07214,BMG_DS027852,Charcot-Marie-Tooth disease type 1
BMGC_DS07215,BMG_DS027853,"Cockayne Syndrome | Cockayne Syndrome, Type III | Cockayne syndrome type 3"
BMGC_DS07216,BMG_DS027854,"Cockayne Syndrome | Cockayne Syndrome, Type II | Cockayne syndrome type 2"
BMGC_DS07217,BMG_DS027855,"Cockayne Syndrome | Cockayne Syndrome, Type I | Cockayne syndrome type 1"
BMGC_DS07218,BMG_DS027856,"Color Blindness, Inherited | Color Vision Defects"
BMGC_DS07219,BMG_DS027857,Color Vision Defects | Monochromatopsia
BMGC_DS07220,BMG_DS027858,"Seizure, Febrile, Complex | Seizures, Febrile"
BMGC_DS07221,BMG_DS027859,"Cranial Nerve Diseases | Cranial Neuropathies, Multiple"
BMGC_DS07222,BMG_DS027860,"Deafness | Deafness, Acquired"
BMGC_DS07223,BMG_DS027861,Diabetic Neuralgia | Diabetic Neuropathies
BMGC_DS07224,BMG_DS027863,"Diplopia | Diplopia, Vertical"
BMGC_DS07225,BMG_DS027864,"Down Syndrome | Trisomy 21, Mitotic Nondisjunction"
BMGC_DS07226,BMG_DS027865,"Duane Retraction Syndrome | Duane Retraction Syndrome, Type 2 | Duane retraction syndrome 2"
BMGC_DS07227,BMG_DS027866,"Duane Retraction Syndrome | Duane Retraction Syndrome, Type 3"
BMGC_DS07228,BMG_DS027867,"Dyskinesia, Drug-Induced | Dyskinesia, Medication-Induced"
BMGC_DS07229,BMG_DS027868,ear cancer
BMGC_DS07230,BMG_DS027869,"Empty Sella Syndrome | Empty Sella Syndrome, Secondary"
BMGC_DS07231,BMG_DS027871,"Encephalomyelitis, Acute Disseminated | Encephalomyelitis, Postexanthem"
BMGC_DS07232,BMG_DS027872,"Encephalomyelitis, Acute Disseminated | Postinfectious Encephalomyelitis"
BMGC_DS07233,BMG_DS027873,"Encephalomyelitis, Acute Disseminated | Post-Vaccinal Encephalitis | post-vaccinal encephalitis"
BMGC_DS07234,BMG_DS027878,"Leukoencephalitis, Acute Hemorrhagic | Leukoencephalitis, Subacute Hemorrhagic"
BMGC_DS07235,BMG_DS027879,Seizures | Single Seizure
BMGC_DS07236,BMG_DS027880,Awakening Epilepsy | Epilepsy
BMGC_DS07237,BMG_DS027881,"Epilepsies, Partial | Subclinical Seizure"
BMGC_DS07238,BMG_DS027882,"Epilepsies, Partial | Uncinate Seizures"
BMGC_DS07239,BMG_DS027883,"Digestive Epilepsy | Epilepsies, Partial"
BMGC_DS07240,BMG_DS027884,"Cryptogenic Tonic-Clonic Epilepsy | Epilepsy, Tonic-Clonic"
BMGC_DS07241,BMG_DS027885,"Epilepsy, Tonic-Clonic | Epilepsy, Tonic-Clonic, Familial"
BMGC_DS07242,BMG_DS027886,"Epilepsy, Tonic-Clonic | Epilepsy, Tonic-Clonic, Symptomatic"
BMGC_DS07243,BMG_DS027887,"Benign Infantile Myoclonic Epilepsy | Epilepsies, Myoclonic | myoclonic epilepsy in infancy"
BMGC_DS07244,BMG_DS027888,"Dravet syndrome | Epilepsies, Myoclonic | Infantile Severe Myoclonic Epilepsy"
BMGC_DS07245,BMG_DS027889,Atonic Absence Seizures | Seizures
BMGC_DS07246,BMG_DS027890,"Epilepsy, Absence | Epilepsy, Absence, Atypical | absence epilepsy"
BMGC_DS07247,BMG_DS027892,Facial Nerve Diseases | Facial Neuritis
BMGC_DS07248,BMG_DS027893,Facial Nerve Diseases | Familial Facial Neuropathy
BMGC_DS07249,BMG_DS027894,Acquired Facial Neuropathy | Facial Nerve Diseases
BMGC_DS07250,BMG_DS027896,"Fibromyalgia | Fibromyalgia, Primary"
BMGC_DS07251,BMG_DS027897,"Fibromyalgia | Fibromyalgia, Secondary"
BMGC_DS07252,BMG_DS027898,FRAXA Syndrome | Fragile X Syndrome
BMGC_DS07253,BMG_DS027899,FRAXE Syndrome | FRAXE intellectual disability | Fragile X Syndrome
BMGC_DS07254,BMG_DS027900,galactose epimerase deficiency
BMGC_DS07255,BMG_DS027902,Adult Glycogen Storage Disease Type II | Glycogen Storage Disease Type II
BMGC_DS07256,BMG_DS027903,"Glycogen Storage Disease Type II | Glycogen Storage Disease Type II, Infantile"
BMGC_DS07257,BMG_DS027904,"Glycogen Storage Disease Type II | Glycogen Storage Disease Type II, Juvenile"
BMGC_DS07258,BMG_DS027905,"Headache Disorders, Primary | Primary Cough Headache"
BMGC_DS07259,BMG_DS027906,Fulminant Hepatic Failure with Cerebral Edema | Hepatic Encephalopathy
BMGC_DS07260,BMG_DS027907,Hepatic Encephalopathy | Hepatic Stupor
BMGC_DS07261,BMG_DS027908,Cystathionine beta-Synthase Deficiency Disease | Homocystinuria | classic homocystinuria
BMGC_DS07262,BMG_DS027913,Akinetic-Rigid Variant of Huntington Disease | Huntington Disease
BMGC_DS07263,BMG_DS027914,Huntington Disease | Juvenile Huntington Disease | juvenile Huntington disease
BMGC_DS07264,BMG_DS027915,Inappropriate ACTH Secretion Syndrome | Pituitary ACTH Hypersecretion
BMGC_DS07265,BMG_DS027919,"Disorders of Excessive Somnolence | Hypersomnia, Recurrent | recurrent hypersomnia"
BMGC_DS07266,BMG_DS027920,"Disorders of Excessive Somnolence | Hypersomnolence Disorders, Primary"
BMGC_DS07267,BMG_DS027921,"Disorders of Excessive Somnolence | Hypersomnolence Disorders, Secondary"
BMGC_DS07268,BMG_DS027922,Hypothalamic Diseases | Hypothalamic Dysfunction Syndromes | hypothalamic dysfunction
BMGC_DS07269,BMG_DS027923,Hypothalamic Diseases | Hypothalamic Dysinhibition Syndrome
BMGC_DS07270,BMG_DS027924,Hypothalamic Diseases | Hypothalamic Overactivity Syndrome
BMGC_DS07271,BMG_DS027925,Hypothalamic Diseases | Hypothalamic-Adenohypophyseal Disorders
BMGC_DS07272,BMG_DS027926,Hypothalamic Diseases | Hypothalamic-Neurohypophyseal Disorders
BMGC_DS07273,BMG_DS027927,Hypothalamic Diseases | Pituitary Diencephalic Syndrome
BMGC_DS07274,BMG_DS027928,Chronic Insomnia | Sleep Initiation and Maintenance Disorders
BMGC_DS07275,BMG_DS027929,Psychophysiological Insomnia | Sleep Initiation and Maintenance Disorders
BMGC_DS07276,BMG_DS027930,Sleep Initiation Dysfunction | Sleep Initiation and Maintenance Disorders
BMGC_DS07277,BMG_DS027931,"Creutzfeldt-Jakob Disease, Familial | Creutzfeldt-Jakob Syndrome | inherited Creutzfeldt-Jakob disease"
BMGC_DS07278,BMG_DS027933,"Auditory Processing Disorder, Central | Language Development Disorders | auditory perceptual disorders"
BMGC_DS07279,BMG_DS027934,learning disability
BMGC_DS07280,BMG_DS027935,"Encephalopathy, Subacute Necrotizing, Infantile | Leigh Disease"
BMGC_DS07281,BMG_DS027936,"Encephalopathy, Subacute Necrotizing, Juvenile | Leigh Disease"
BMGC_DS07282,BMG_DS027937,"Infantile Globoid Cell Leukodystrophy | Leukodystrophy, Globoid Cell | infantile Krabbe disease"
BMGC_DS07283,BMG_DS027938,"Juvenile metachromatic leucodystrophy | Metachromatic leucodystrophy, juvenile type | Metachromatic leukodystrophy, juvenile type | Metachromatic leukodystrophy, juvenile type (disorder) | Scholz cerebral sclerosis | Scholz-Bielschowsky-Henneberg diffuse cerebral sclerosis | metachromatic leukodystrophy, juvenile form"
BMGC_DS07284,BMG_DS027939,"Leukodystrophy, Metachromatic | Metachromatic Leukodystrophy, Infant | metachromatic leukodystrophy, late infantile form"
BMGC_DS07285,BMG_DS027940,"Leukodystrophy, Metachromatic | Leukodystrophy, Metachromatic, Adult | metachromatic leukodystrophy, adult form"
BMGC_DS07286,BMG_DS027942,"Maple Syrup Urine Disease | Maple Syrup Urine Disease, Thiamine Responsive | thiamine-responsive maple syrup urine disease"
BMGC_DS07287,BMG_DS027943,desmoplastic/nodular medulloblastoma
BMGC_DS07288,BMG_DS027944,cerebral convexity meningioma
BMGC_DS07289,BMG_DS027945,parasagittal meningioma
BMGC_DS07290,BMG_DS027946,"Meningitis, Haemophilus | Meningitis, Haemophilus parainfluenzae | haemophilus meningitis"
BMGC_DS07291,BMG_DS027947,"Meningitis, Haemophilus | Meningitis, Haemophilus influenzae Type F | haemophilus meningitis"
BMGC_DS07292,BMG_DS027948,"Meningitis, Pneumococcal | Meningitis, Pneumococcal, Penicillin-Resistant"
BMGC_DS07293,BMG_DS027949,myelomeningocele
BMGC_DS07294,BMG_DS027950,"Moyamoya Disease | Moyamoya Disease, Primary"
BMGC_DS07295,BMG_DS027951,"Moyamoya Disease | Moyamoya Disease, Secondary"
BMGC_DS07296,BMG_DS027952,"Multiple Sclerosis | Multiple Sclerosis, Acute Fulminating"
BMGC_DS07297,BMG_DS027953,"Muscular Atrophy, Spinal | Progressive Proximal Myelopathic Muscular Atrophy"
BMGC_DS07298,BMG_DS027954,"Muscular Atrophy, Spinal | Scapuloperoneal Form of Spinal Muscular Atrophy | scapuloperoneal spinal muscular atrophy | scapuloperoneal spinal muscular atrophy, autosomal dominant"
BMGC_DS07299,BMG_DS027955,Distal Muscular Dystrophies | Distal Myopathies | distal myopathy
BMGC_DS07300,BMG_DS027956,X-Linked Emery-Dreifuss Muscular Dystrophy | X-linked Emery-Dreifuss muscular dystrophy
BMGC_DS07301,BMG_DS027957,"Myasthenia Gravis | Myasthenia Gravis, Generalized"
BMGC_DS07302,BMG_DS027958,"Myasthenia Gravis | Myasthenia Gravis, Ocular"
BMGC_DS07303,BMG_DS027960,"Myelitis, Paraneoplastic | Myelitis, Transverse"
BMGC_DS07304,BMG_DS027961,"Myelitis, Postinfectious | Myelitis, Transverse"
BMGC_DS07305,BMG_DS027962,"Myelitis, Postvaccinal | Myelitis, Transverse"
BMGC_DS07306,BMG_DS027963,"Myelitis, Subacute Transverse | Myelitis, Transverse"
BMGC_DS07307,BMG_DS027964,"Demyelinative Myelitis | Myelitis, Transverse"
BMGC_DS07308,BMG_DS027965,"Myoclonus | Myoclonus, Eyelid"
BMGC_DS07309,BMG_DS027966,Idiopathic Inflammatory Myopathies | Myositis | idiopathic inflammatory myopathy
BMGC_DS07310,BMG_DS027967,"Myositis | Myositis, Focal"
BMGC_DS07311,BMG_DS027968,"Becker Generalized Myotonia | Myotonia Congenita | Thomsen and Becker disease | myotonia congenita, autosomal recessive"
BMGC_DS07312,BMG_DS027969,Narcolepsy | Narcolepsy-Cataplexy Syndrome | narcolepsy-cataplexy syndrome
BMGC_DS07313,BMG_DS027970,External Nerve Compression Syndromes | Nerve Compression Syndromes
BMGC_DS07314,BMG_DS027971,Internal Nerve Compression Syndromes | Nerve Compression Syndromes
BMGC_DS07315,BMG_DS027972,Neuroleptic Malignant Syndrome | Neuroleptic-Induced Neuroleptic Malignant Syndrome
BMGC_DS07316,BMG_DS027973,Cramp-fasciculation syndrome | Foley-Denny-Brown Syndrome | Neuromuscular Diseases
BMGC_DS07317,BMG_DS027974,Juvenile Neuronal Ceroid Lipofuscinosis | Neuronal Ceroid-Lipofuscinoses | neuronal ceroid lipofuscinosis 3
BMGC_DS07318,BMG_DS027975,oligodendroglioma
BMGC_DS07319,BMG_DS027979,Optic Disk Disorders | Optic Nerve Diseases
BMGC_DS07320,BMG_DS027980,Osteoporosis | Post-Traumatic Osteoporosis
BMGC_DS07321,BMG_DS027982,"Parkinson Disease, Secondary | Parkinson Disease, Secondary Vascular"
BMGC_DS07322,BMG_DS027983,"Atherosclerotic Parkinsonism | Parkinson Disease, Secondary"
BMGC_DS07323,BMG_DS027984,Hereditary Autoinflammatory Diseases | hereditary periodic fever syndrome
BMGC_DS07324,BMG_DS027987,"Classical phenylketonuria | Classical phenylketonuria (disorder) | Hyperphenylalaninaemia, type I | Hyperphenylalaninemia, type I | Imbecilitus phenylpyruvica | Severe phenylalanine hydroxylase deficiency | classic phenylketonuria"
BMGC_DS07325,BMG_DS027988,Hyperphenylalaninaemia | Hyperphenylalaninemia | Hyperphenylalaninemia (disorder) | Phenylketonurias
BMGC_DS07326,BMG_DS027989,"Hyperphenylalaninemia, Non-Phenylketonuric | Phenylketonurias | hyperphenylalaninemia due to tetrahydrobiopterin deficiency"
BMGC_DS07327,BMG_DS027990,Adenohypophyseal Diseases | Pituitary Diseases | anterior pituitary gland disorder
BMGC_DS07328,BMG_DS027994,"Encephalitis, Polio | Poliomyelitis"
BMGC_DS07329,BMG_DS027995,"Poliomyelitis | Poliomyelitis, Nonpoliovirus"
BMGC_DS07330,BMG_DS027996,"Poliomyelitis | Poliomyelitis, Preparalytic"
BMGC_DS07331,BMG_DS027997,"Polyneuropathies | Polyneuropathy, Familial"
BMGC_DS07332,BMG_DS027998,Acquired Polyneuropathy | Polyneuropathies
BMGC_DS07333,BMG_DS028000,Flaccid Quadriplegia | Quadriplegia
BMGC_DS07334,BMG_DS028001,"Paralysis, Spinal, Quadriplegic | Quadriplegia"
BMGC_DS07335,BMG_DS028002,Nerve Root Compression | Radiculopathy
BMGC_DS07336,BMG_DS028003,familial retinoblastoma | hereditary retinoblastoma
BMGC_DS07337,BMG_DS028004,"Reye Syndrome | Reye Syndrome, Adult"
BMGC_DS07338,BMG_DS028005,Reye Syndrome | Reye-Like Syndrome
BMGC_DS07339,BMG_DS028006,"Adult Sandhoff Disease | Sandhoff Disease | Sandhoff disease, adult form"
BMGC_DS07340,BMG_DS028007,"Infantile Sandhoff Disease | Sandhoff Disease | Sandhoff disease, infantile form"
BMGC_DS07341,BMG_DS028008,"Juvenile Sandhoff Disease | Sandhoff Disease | Sandhoff disease, juvenile form"
BMGC_DS07342,BMG_DS028009,"Seizures | Seizures, Focal"
BMGC_DS07343,BMG_DS028010,Sensation Disorders | Special Senses Disorders
BMGC_DS07344,BMG_DS028011,"Petrous Sinus Thrombophlebitis | Sinus Thrombosis, Intracranial"
BMGC_DS07345,BMG_DS028012,"Intracranial Sinus Thrombophlebitis | Sinus Thrombosis, Intracranial"
BMGC_DS07346,BMG_DS028013,"Petrous Sinus Thrombosis | Sinus Thrombosis, Intracranial"
BMGC_DS07347,BMG_DS028014,Insufficient Sleep Syndrome | Sleep Deprivation
BMGC_DS07348,BMG_DS028015,REM Sleep Deprivation | Sleep Deprivation
BMGC_DS07349,BMG_DS028016,Sleep Wake Disorders | Sleep-Related Neurogenic Tachypnea | obsolete rare sleep disorder
BMGC_DS07350,BMG_DS028017,Speech Disorders | Verbal Fluency Disorders
BMGC_DS07351,BMG_DS028018,"Status Epilepticus | Status Epilepticus, Subclinical"
BMGC_DS07352,BMG_DS028019,Non-Convulsive Status Epilepticus | Status Epilepticus
BMGC_DS07353,BMG_DS028020,Simple Partial Status Epilepticus | Status Epilepticus
BMGC_DS07354,BMG_DS028021,Convergent Comitant Strabismus | Strabismus
BMGC_DS07355,BMG_DS028022,"Strabismus | Strabismus, Noncomitant"
BMGC_DS07356,BMG_DS028023,stuttering
BMGC_DS07357,BMG_DS028024,stuttering
BMGC_DS07358,BMG_DS028025,stuttering
BMGC_DS07359,BMG_DS028029,"Syncope | Syncope, Deglutitional"
BMGC_DS07360,BMG_DS028030,"Syncope | Syncope, Hyperventilation"
BMGC_DS07361,BMG_DS028031,"Syncope | Syncope, Stokes-Adams"
BMGC_DS07362,BMG_DS028034,Tangier Disease | Tangier Disease Neuropathy
BMGC_DS07363,BMG_DS028035,Giant Cell Aortic Arteritis | Giant Cell Arteritis
BMGC_DS07364,BMG_DS028036,Giant Cell Arteritis | Juvenile Temporal Arteritis | juvenile temporal arteritis
BMGC_DS07365,BMG_DS028040,thymus cancer
BMGC_DS07366,BMG_DS028041,Childhood Tic Disorders | Tic Disorders
BMGC_DS07367,BMG_DS028042,Motor Tic Disorders | Tic Disorders
BMGC_DS07368,BMG_DS028043,Pulsatile Tinnitus | Tinnitus
BMGC_DS07369,BMG_DS028044,tonsil cancer
BMGC_DS07370,BMG_DS028047,Vertebrobasilar Dolichoectasia | Vertebrobasilar Insufficiency
BMGC_DS07371,BMG_DS028051,"Encephalitis, West Nile Fever | West Nile Fever | West Nile encephalitis | West-Nile encephalitis"
BMGC_DS07372,BMG_DS028052,West Nile Fever | West Nile Fever Meningitis
BMGC_DS07373,BMG_DS028053,West Nile Fever | West Nile Fever Meningoencephalitis
BMGC_DS07374,BMG_DS028054,West Nile Fever | West Nile Fever Myelitis
BMGC_DS07375,BMG_DS028055,CADASIL | cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
BMGC_DS07376,BMG_DS028056,supratentorial cancer
BMGC_DS07377,BMG_DS028057,infratentorial cancer
BMGC_DS07378,BMG_DS028058,Zellweger Syndrome | Zellweger-Like Syndrome
BMGC_DS07379,BMG_DS028059,Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease | Pyruvate Dehydrogenase Complex Deficiency Disease
BMGC_DS07380,BMG_DS028060,"Pyruvate Dehydrogenase Complex Deficiency Disease | Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal"
BMGC_DS07381,BMG_DS028061,"Ataxia with Lactic Acidosis, Type I | Pyruvate Dehydrogenase Complex Deficiency Disease"
BMGC_DS07382,BMG_DS028062,"Hereditary Autosomal Dominant Spastic Paraplegia | Spastic Paraplegia, Hereditary"
BMGC_DS07383,BMG_DS028063,"Autosomal Recessive Hereditary Spastic Paraplegia | Spastic Paraplegia, Hereditary"
BMGC_DS07384,BMG_DS028064,"Hereditary X-Linked Recessive Spastic Paraplegia | Spastic Paraplegia, Hereditary"
BMGC_DS07385,BMG_DS028065,"Spastic Paraplegia, Hereditary | X-Linked, Spastic Paraplegia, Hereditary"
BMGC_DS07386,BMG_DS028066,adult acute lymphoblastic leukemia | adult acute lymphocytic leukemia
BMGC_DS07387,BMG_DS028068,"Eosinophilia-Myalgia Syndrome | Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related"
BMGC_DS07388,BMG_DS028070,"Toxoplasmosis, Central Nervous System | Toxoplasmosis, Cerebral"
BMGC_DS07389,BMG_DS028071,"Intracranial Toxoplasmosis | Toxoplasmosis, Cerebral"
BMGC_DS07390,BMG_DS028072,"Neurotoxoplasmosis | Toxoplasmosis, Cerebral"
BMGC_DS07391,BMG_DS028073,Carotid Stenosis | Common Carotid Artery Stenosis
BMGC_DS07392,BMG_DS028074,Carotid Stenosis | External Carotid Artery Stenosis
BMGC_DS07393,BMG_DS028075,"Cryptococcal meningitis | Granulomous Cerebral Cryptococcosis | Meningitis, Cryptococcal"
BMGC_DS07394,BMG_DS028077,"Cryptogenic Partial Complex Epilepsy | Epilepsy, Complex Partial"
BMGC_DS07395,BMG_DS028078,"Epilepsy, Complex Partial | Epilepsy, Symptomatic, Partial Complex"
BMGC_DS07396,BMG_DS028079,"Epilepsy, Anterior Fronto-Polar | Epilepsy, Frontal Lobe"
BMGC_DS07397,BMG_DS028080,"Epilepsy, Frontal Lobe | Epilepsy, Orbito-Frontal"
BMGC_DS07398,BMG_DS028081,"Human Transmissible Spongiform Encephalopathies, Inherited | Prion Diseases"
BMGC_DS07399,BMG_DS028082,"Akathisia, Drug-Induced | Pseudoakathisia"
BMGC_DS07400,BMG_DS028083,Mitochondrial Diseases | mitochondrial disease | mitochondrial metabolism disease
BMGC_DS07401,BMG_DS028088,"Amyloid Neuropathies | Amyloid Neuropathy, Secondary"
BMGC_DS07402,BMG_DS028089,"Canavan Disease | Canavan Disease, Familial Form"
BMGC_DS07403,BMG_DS028090,"Canavan Disease | Canavan Disease, Neonatal"
BMGC_DS07404,BMG_DS028091,"Canavan Disease | Canavan Disease, Sporadic Form"
BMGC_DS07405,BMG_DS028092,"Canavan Disease | Canavan Disease, Infantile"
BMGC_DS07406,BMG_DS028093,"Canavan Disease | Canavan Disease, Juvenile"
BMGC_DS07407,BMG_DS028094,Machado-Joseph Disease | Machado-Joseph Disease Type I | Machado-Joseph disease type 1
BMGC_DS07408,BMG_DS028095,Machado-Joseph Disease | Machado-Joseph Disease Type II | Machado-Joseph disease type 2
BMGC_DS07409,BMG_DS028096,Machado-Joseph Disease | Machado-Joseph Disease Type III | Machado-Joseph disease type 3
BMGC_DS07410,BMG_DS028097,Machado-Joseph Disease | Machado-Joseph Disease Type IV
BMGC_DS07411,BMG_DS028098,lymphangioleiomyomatosis
BMGC_DS07412,BMG_DS028099,cerebral primitive neuroectodermal tumor
BMGC_DS07413,BMG_DS028100,squamous cell carcinoma
BMGC_DS07414,BMG_DS028101,peripheral nerve sheath neoplasm
BMGC_DS07415,BMG_DS028102,malignant peripheral nerve sheath tumor
BMGC_DS07416,BMG_DS028103,perineurioma
BMGC_DS07417,BMG_DS028104,Brown-Sequard Syndrome | Brown-Sequard's Paralysis
BMGC_DS07418,BMG_DS028105,Brown-Sequard Syndrome | Spastic Spinal Monoplegia Syndrome
BMGC_DS07419,BMG_DS028112,Tension-Type Headache | Tension-Vascular Headache
BMGC_DS07420,BMG_DS028113,progressive non-fluent aphasia
BMGC_DS07421,BMG_DS028114,"Peroxisomal Disorders | Peroxisomal Dysfunction, General"
BMGC_DS07422,BMG_DS028115,"Peroxisomal Disorders | Peroxisomal Dysfunction, Multiple"
BMGC_DS07423,BMG_DS028116,"Peroxisomal Disorders | Peroxisomal Dysfunction, Single"
BMGC_DS07424,BMG_DS028117,"Anterior Ischemic Optic Neuropathy | Optic Neuropathy, Ischemic | anterior ischemic optic neuropathy"
BMGC_DS07425,BMG_DS028118,"Optic Neuropathy, Ischemic | Posterior Ischemic Optic Neuropathy"
BMGC_DS07426,BMG_DS028119,"Inclusion Body Myopathy, Sporadic | Myositis, Inclusion Body"
BMGC_DS07427,BMG_DS028120,Adult Neuroaxonal Dystrophy | Neuroaxonal Dystrophies
BMGC_DS07428,BMG_DS028121,Juvenile Neuroaxonal Dystrophy | Neuroaxonal Dystrophies
BMGC_DS07429,BMG_DS028122,Late Infantile Neuroaxonal Dystrophy | Neuroaxonal Dystrophies
BMGC_DS07430,BMG_DS028126,"Blindness, Cortical | Blindness, Cortical, Post-Ictal"
BMGC_DS07431,BMG_DS028127,"Anton Syndrome | Blindness, Cortical"
BMGC_DS07432,BMG_DS028130,"Degenerative Diseases, Spinal Cord | Neurodegenerative Diseases"
BMGC_DS07433,BMG_DS028132,Basal Ganglia Cerebrovascular Disease | basal ganglia cerebrovascular disease | basal ganglia cerebrovascular disorder
BMGC_DS07434,BMG_DS028133,Basal Ganglia Cerebrovascular Disease | Lenticulostriate Vasculopathy
BMGC_DS07435,BMG_DS028134,"Brain Diseases, Metabolic | Metabolic Disorder, Central Nervous System, Acquired"
BMGC_DS07436,BMG_DS028135,"Brain Diseases, Metabolic | Brain Diseases, Metabolic, Acquired"
BMGC_DS07437,BMG_DS028137,"Hyperglycinemia, Nonketotic | Hyperglycinemia, Nonketotic, Type III"
BMGC_DS07438,BMG_DS028138,"Hyperglycinemia, Nonketotic | Nonketotic Hyperglycinemia | glycine encephalopathy"
BMGC_DS07439,BMG_DS028139,"Argininosuccinic Acid Synthetase Deficiency Disease, Partial | Citrullinemia"
BMGC_DS07440,BMG_DS028140,"Argininosuccinic Acid Synthetase Deficiency, Complete | Citrullinemia"
BMGC_DS07441,BMG_DS028141,Carbamoyl-Phosphate Synthase I Deficiency Disease | carbamoyl phosphate synthetase I deficiency disease
BMGC_DS07442,BMG_DS028143,"Advanced Sleep Phase Syndrome | Sleep Disorders, Circadian Rhythm | circadian rhythm sleep disorder, advanced sleep phase type"
BMGC_DS07443,BMG_DS028145,"Sleep Apnea, Obstructive | Upper Airway Resistance Sleep Apnea Syndrome"
BMGC_DS07444,BMG_DS028146,"Central Sleep Apnea, Primary | Sleep Apnea, Central | primary central sleep apnea syndrome"
BMGC_DS07445,BMG_DS028147,"Central Sleep Apnea, Secondary | Sleep Apnea, Central"
BMGC_DS07446,BMG_DS028151,REM sleep behavior disorder
BMGC_DS07447,BMG_DS028152,Nocturnal Myoclonus Syndrome | periodic limb movement disorder
BMGC_DS07448,BMG_DS028153,"Atypical Inclusion-Body Disease | Myoclonic Epilepsies, Progressive"
BMGC_DS07449,BMG_DS028154,"Familial Progressive Myoclonic Epilepsy | Myoclonic Epilepsies, Progressive"
BMGC_DS07450,BMG_DS028155,"Myoclonic Epilepsies, Progressive | progressive myoclonus epilepsy"
BMGC_DS07451,BMG_DS028156,"Action Myoclonus-Renal Failure Syndrome | Myoclonic Epilepsies, Progressive | action myoclonus-renal failure syndrome | progressive myoclonus epilepsy 4"
BMGC_DS07452,BMG_DS028157,"Biotin-Responsive Encephalopathy | Myoclonic Epilepsies, Progressive"
BMGC_DS07453,BMG_DS028158,"Dentatorubral-Pallidoluysian Atrophy | Myoclonic Epilepsies, Progressive | dentatorubral-pallidoluysian atrophy"
BMGC_DS07454,BMG_DS028159,"May-White Syndrome | Myoclonic Epilepsies, Progressive"
BMGC_DS07455,BMG_DS028160,Lafora Disease | Lafora disease
BMGC_DS07456,BMG_DS028161,"Lafora Body Disease, Late Onset | Lafora Disease"
BMGC_DS07457,BMG_DS028162,Unverricht-Lundborg Syndrome | Unverricht-Lundborg syndrome
BMGC_DS07458,BMG_DS028163,"Decision Making Reflex Epilepsy | Epilepsy, Reflex"
BMGC_DS07459,BMG_DS028164,"Epilepsy, Reflex | Reflex Epilepsy, Eating-Induced"
BMGC_DS07460,BMG_DS028165,"Epilepsy, Reflex | Reflex Epilepsy, Visual Pattern"
BMGC_DS07461,BMG_DS028166,"Epilepsy, Reflex | Tactile Reflex Epilepsy"
BMGC_DS07462,BMG_DS028167,"Epilepsy, Reflex | Writing-Induced Reflex Epilepsy"
BMGC_DS07463,BMG_DS028168,"Epilepsy, Reflex | Reflex Epilepsy, Audiogenic | audiogenic seizures"
BMGC_DS07464,BMG_DS028169,"Coma, Post-Head Injury | Coma, Post-Traumatic, Prolonged"
BMGC_DS07465,BMG_DS028170,"Carotid Artery, Internal, Dissection"
BMGC_DS07466,BMG_DS028173,"Sagittal Sinus Thrombosis | Septic Phlebitis, Sagittal Sinus"
BMGC_DS07467,BMG_DS028174,Sagittal Sinus Thrombophlebitis | Sagittal Sinus Thrombosis
BMGC_DS07468,BMG_DS028175,"Cavernous Sinus Thrombosis | Septic Phlebitis, Cavernous Sinus"
BMGC_DS07469,BMG_DS028178,"Gait Disorder, Sensorimotor | Gait Disorders, Neurologic"
BMGC_DS07470,BMG_DS028179,"Gait Disorders, Neurologic"
BMGC_DS07471,BMG_DS028183,"Infarction, Anterior Cerebral Artery | anterior cerebral artery infarction"
BMGC_DS07472,BMG_DS028185,"Infarction, Middle Cerebral Artery | Middle Cerebral Artery Embolus"
BMGC_DS07473,BMG_DS028186,"Infarction, Middle Cerebral Artery | Left Middle Cerebral Artery Infarction"
BMGC_DS07474,BMG_DS028187,"Embolic Infarction, Middle Cerebral Artery | Infarction, Middle Cerebral Artery"
BMGC_DS07475,BMG_DS028188,"Infarction, Middle Cerebral Artery | Thrombotic Infarction, Middle Cerebral Artery"
BMGC_DS07476,BMG_DS028189,"Infarction, Middle Cerebral Artery | Right Middle Cerebral Artery Infarction"
BMGC_DS07477,BMG_DS028190,Arsenic Encephalopathy | Arsenic Poisoning
BMGC_DS07478,BMG_DS028191,"Mercurial Neuroanesthenia | Mercury Poisoning, Nervous System"
BMGC_DS07479,BMG_DS028192,"Lead Encephalopathy, Childhood | Lead Poisoning, Nervous System, Childhood"
BMGC_DS07480,BMG_DS028193,"Lead Poisoning, Nervous System, Adult | Lead Polyneuropathy"
BMGC_DS07481,BMG_DS028194,MPTP Poisoning | MPTP-Induced Degeneration of the Striatum
BMGC_DS07482,BMG_DS028195,"Alcohol-Induced Disorders, Nervous System"
BMGC_DS07483,BMG_DS028197,Alcohol Withdrawal Seizures | Alcohol Withdrawal-Induced Major Motor Seizure
BMGC_DS07484,BMG_DS028198,"Alcohol Withdrawal Seizures | Status Epilepticus, Alcohol Withdrawal-Induced"
BMGC_DS07485,BMG_DS028199,"Heredodegenerative Disorders, Nervous System"
BMGC_DS07486,BMG_DS028200,Autoimmune Diseases of the Nervous System | autoimmune disease of the nervous system | autoimmune disorder of the nervous system
BMGC_DS07487,BMG_DS028201,"Autoimmune Diseases of the Nervous System | Immune Disorders, Nervous System"
BMGC_DS07488,BMG_DS028206,"Vasculitis, Central Nervous System | central nervous system vasculitis"
BMGC_DS07489,BMG_DS028207,"Secondary CNS Vasculitis | Vasculitis, Central Nervous System"
BMGC_DS07490,BMG_DS028208,"Postzoster Arteritis | Vasculitis, Central Nervous System"
BMGC_DS07491,BMG_DS028209,"Primary CNS Vasculitis | Vasculitis, Central Nervous System"
BMGC_DS07492,BMG_DS028210,"Myasthenic Syndromes, Congenital | congenital myasthenic syndrome"
BMGC_DS07493,BMG_DS028211,"Congenital Myasthenic Syndromes, Postsynaptic | Myasthenic Syndromes, Congenital | postsynaptic congenital myasthenic syndrome"
BMGC_DS07494,BMG_DS028212,"Congenital Myasthenic Syndromes, Presynaptic | Myasthenic Syndromes, Congenital"
BMGC_DS07495,BMG_DS028213,"Myasthenic Syndromes, Congenital | Myasthenic Syndromes, Congenital, Slow Channel"
BMGC_DS07496,BMG_DS028214,brain stem cancer
BMGC_DS07497,BMG_DS028215,"Vasospasm, Intracranial | intracranial vasospasm"
BMGC_DS07498,BMG_DS028216,Migraine with Acute Onset Aura | Migraine with Aura
BMGC_DS07499,BMG_DS028218,Subacute Vestibular Neuritis | Vestibular Neuronitis
BMGC_DS07500,BMG_DS028219,Vestibular Neuronitis | vestibular neuronitis
BMGC_DS07501,BMG_DS028220,Vestibular Neuronitis | Vestibular Neuropathy
BMGC_DS07502,BMG_DS028224,Adult Pelizaeus-Merzbacher Disease | Pelizaeus-Merzbacher Disease
BMGC_DS07503,BMG_DS028225,"Pelizaeus-Merzbacher Disease | Pelizaeus-Merzbacher Disease, Atypical"
BMGC_DS07504,BMG_DS028226,"Classic Pelizaeus-Merzbacher Disease | Pelizaeus-Merzbacher Disease | Pelizaeus-Merzbacher disease, classic form"
BMGC_DS07505,BMG_DS028227,"Pelizaeus-Merzbacher Disease | Pelizaeus-Merzbacher Disease, Transitional | Pelizaeus-Merzbacher disease, transitional form"
BMGC_DS07506,BMG_DS028228,Cockayne-Pelizaeus-Merzbacher Disease | Pelizaeus-Merzbacher Disease
BMGC_DS07507,BMG_DS028229,Acquired Neuromyotonia | Isaacs Syndrome
BMGC_DS07508,BMG_DS028230,"Medial Neuropathy, Distal | Median Neuropathy"
BMGC_DS07509,BMG_DS028231,Median Neuropathy | median nerve neuropathy
BMGC_DS07510,BMG_DS028232,"Neuralgia-Neuritis, Sciatic Nerve | Sciatic Neuropathy"
BMGC_DS07511,BMG_DS028233,Sciatic Nerve Palsy | Sciatic Neuropathy
BMGC_DS07512,BMG_DS028234,"Neuropathy, Common Peroneal | Peroneal Neuropathies"
BMGC_DS07513,BMG_DS028235,Fibular Neuropathy | Peroneal Neuropathies
BMGC_DS07514,BMG_DS028236,"Neuropathy, Deep Peroneal | Peroneal Neuropathies"
BMGC_DS07515,BMG_DS028237,"Neuropathy, Superficial Peroneal | Peroneal Neuropathies"
BMGC_DS07516,BMG_DS028238,Femoral Neuritis | Femoral Neuropathy
BMGC_DS07517,BMG_DS028239,Femoral Neuropathy | femoral neuropathy
BMGC_DS07518,BMG_DS028240,Tibial Neuropathy | tibial neuropathy
BMGC_DS07519,BMG_DS028245,olfactory nerve disease | olfactory nerve disorder
BMGC_DS07520,BMG_DS028246,"Superior Oblique Palsy, Neurogenic | Trochlear Nerve Diseases | trochlear nerve disease"
BMGC_DS07521,BMG_DS028247,"Abducens Nerve Diseases | Abducens Palsy, Childhood, Benign Recurrent"
BMGC_DS07522,BMG_DS028249,Glossopharyngeal Motor Neuropathy | Glossopharyngeal Nerve Diseases | glossopharyngeal motor neuropathy
BMGC_DS07523,BMG_DS028252,Hypoglossal Nerve Diseases | Hypoglossal Neuropathy
BMGC_DS07524,BMG_DS028253,"Neonatal Sleep Myoclonus, Benign | Parasomnias"
BMGC_DS07525,BMG_DS028254,Parasomnias | Sleep-Related Abnormal Swallowing Syndrome
BMGC_DS07526,BMG_DS028255,Neuromuscular Junction Diseases | neuromuscular junction disease
BMGC_DS07527,BMG_DS028256,"Myopathy, Central Core | congenital myopathy 1A"
BMGC_DS07528,BMG_DS028257,Anterior Circulation Brain Infarction | Brain Infarction
BMGC_DS07529,BMG_DS028258,"Brain Infarction | Brain Infarction, Posterior Circulation"
BMGC_DS07530,BMG_DS028259,"Brain Infarction | Venous Infarction, Brain"
BMGC_DS07531,BMG_DS028260,Brain Infarction | brain infarction
BMGC_DS07532,BMG_DS028261,Acute Cerebrovascular Accidents | Stroke
BMGC_DS07533,BMG_DS028262,"Lymphoma, Lymphocytic, Intermediate | Lymphoma, Mantle-Cell | mantle cell lymphoma"
BMGC_DS07534,BMG_DS028263,Brain Stem Infarctions | Millard-Gublar Syndrome
BMGC_DS07535,BMG_DS028264,"Multiple Sclerosis, Chronic Progressive | Multiple Sclerosis, Primary Progressive | primary progressive multiple sclerosis"
BMGC_DS07536,BMG_DS028265,"Multiple Sclerosis, Chronic Progressive | Multiple Sclerosis, Secondary Progressive | secondary progressive multiple sclerosis"
BMGC_DS07537,BMG_DS028266,"Multiple Sclerosis, Relapsing-Remitting | relapsing-remitting multiple sclerosis"
BMGC_DS07538,BMG_DS028267,Acatalasia | Hypocatalasemia
BMGC_DS07539,BMG_DS028268,Autosomal Dominant Juvenile Parkinson Disease | Parkinsonian Disorders
BMGC_DS07540,BMG_DS028269,Autosomal Dominant Parkinsonism | Parkinsonian Disorders
BMGC_DS07541,BMG_DS028270,Autosomal Recessive Parkinsonism | Parkinsonian Disorders
BMGC_DS07542,BMG_DS028271,Familial Juvenile Parkinsonism | Parkinsonian Disorders
BMGC_DS07543,BMG_DS028272,"Parkinsonian Disorders | Parkinsonism, Juvenile | juvenile-onset Parkinson disease"
BMGC_DS07544,BMG_DS028273,"Brain Diseases, Metabolic, Inborn | Brain Diseases, Metabolic, Inherited"
BMGC_DS07545,BMG_DS028274,"Brain Diseases, Metabolic, Inborn"
BMGC_DS07546,BMG_DS028275,"Brain Diseases, Metabolic, Inborn | Central Nervous System Inborn Metabolic Diseases"
BMGC_DS07547,BMG_DS028276,Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxias | spinocerebellar ataxia type 1
BMGC_DS07548,BMG_DS028277,Spinocerebellar Ataxia Type 2 | Spinocerebellar Ataxias | spinocerebellar ataxia type 2
BMGC_DS07549,BMG_DS028278,Spinocerebellar Ataxia Type 4 | Spinocerebellar Ataxias | spinocerebellar ataxia type 4
BMGC_DS07550,BMG_DS028279,Spinocerebellar Ataxia Type 5 | Spinocerebellar Ataxias | spinocerebellar ataxia type 5
BMGC_DS07551,BMG_DS028280,spinocerebellar ataxia type 6
BMGC_DS07552,BMG_DS028281,Spinocerebellar Ataxia Type 7 | Spinocerebellar Ataxias | autosomal dominant cerebellar ataxia type II
BMGC_DS07553,BMG_DS028282,Spinal Cord Vascular Diseases | vascular disease
BMGC_DS07554,BMG_DS028283,Posterior Spinal Artery Syndrome | Spinal Cord Vascular Diseases
BMGC_DS07555,BMG_DS028284,Spinal Cord Ischemia | spinal cord ischemia | vascular disease
BMGC_DS07556,BMG_DS028285,"Infarction, Posterior Cerebral Artery | posterior cerebral artery infarction"
BMGC_DS07557,BMG_DS028286,"Embolic Infarction, Posterior Cerebral Artery | Infarction, Posterior Cerebral Artery"
BMGC_DS07558,BMG_DS028287,"Infarction, Posterior Cerebral Artery | Thrombotic Infarction, Posterior Cerebral Artery"
BMGC_DS07559,BMG_DS028288,"Brain Diseases, Arterial | Intracranial Arterial Diseases"
BMGC_DS07560,BMG_DS028289,Intracranial Arterial Diseases | intracranial arterial disease
BMGC_DS07561,BMG_DS028290,Intracranial Embolism | intracranial embolism
BMGC_DS07562,BMG_DS028291,Intracranial Thrombosis | intracranial thrombosis
BMGC_DS07563,BMG_DS028292,Brain Thrombosis | Intracranial Thrombosis
BMGC_DS07564,BMG_DS028294,Chronic Daily Headache | Headache Disorders
BMGC_DS07565,BMG_DS028295,"Headache Disorders | Headache, Intractable"
BMGC_DS07566,BMG_DS028296,"Headache Disorders, Primary | Hypnic Headache | hypnic headache"
BMGC_DS07567,BMG_DS028298,Bardet-Biedl Syndrome | Bardet-Biedl syndrome
BMGC_DS07568,BMG_DS028306,Infection of nervous system caused by Schistosoma | Infection of nervous system caused by Schistosoma (disorder) | Neuroschistosomiasis | neuroschistosomiasis
BMGC_DS07569,BMG_DS028311,Ballism | Ballism (disorder) | Ballismus | Dyskinesias
BMGC_DS07570,BMG_DS028312,Adult-Onset Dystonias | Dystonic Disorders
BMGC_DS07571,BMG_DS028313,Adult-Onset Idiopathic Focal Dystonias | Dystonic Disorders
BMGC_DS07572,BMG_DS028314,Adult-Onset Idiopathic Torsion Dystonias | Dystonic Disorders
BMGC_DS07573,BMG_DS028315,Autosomal Dominant Familial Dystonia | Dystonic Disorders
BMGC_DS07574,BMG_DS028316,Autosomal Recessive Familial Dystonia | Dystonic Disorders
BMGC_DS07575,BMG_DS028317,Childhood Onset Dystonias | Dystonic Disorders
BMGC_DS07576,BMG_DS028318,"Dystonia, Primary | Dystonic Disorders"
BMGC_DS07577,BMG_DS028319,"Dystonia, Secondary | Dystonic Disorders"
BMGC_DS07578,BMG_DS028320,"Dystonias, Sporadic | Dystonic Disorders"
BMGC_DS07579,BMG_DS028321,Dystonic Disorders | Familial Dystonia | generalized dystonia
BMGC_DS07580,BMG_DS028322,Dystonic Disorders | Pseudodystonia | psychogenic movement disorders
BMGC_DS07581,BMG_DS028323,"Chorea | Dyskinesias, Paroxysmal | paroxysmal dyskinesia"
BMGC_DS07582,BMG_DS028326,Lyme Neuroborreliosis | Lyme disease
BMGC_DS07583,BMG_DS028333,Position Sense Disorders | Somatosensory Disorders
BMGC_DS07584,BMG_DS028334,Somatosensory Disorders | Thermal Sensation Disorders
BMGC_DS07585,BMG_DS028335,Somatosensory Disorders
BMGC_DS07586,BMG_DS028336,"Congenital Structural Myopathy | Myopathies, Structural, Congenital | congenital structural myopathy"
BMGC_DS07587,BMG_DS028339,Dyssomnias | Environmental Sleep Disorder
BMGC_DS07588,BMG_DS028340,"Dyssomnias | Sleep Disorders, Extrinsic"
BMGC_DS07589,BMG_DS028348,"Hypoxia-Ischemia, Brain | Hypoxic-Ischemic Encephalopathy"
BMGC_DS07590,BMG_DS028349,"Anoxic-Ischemic Encephalopathy | Hypoxia-Ischemia, Brain"
BMGC_DS07591,BMG_DS028350,"Anoxia-Ischemia, Brain | Hypoxia-Ischemia, Brain"
BMGC_DS07592,BMG_DS028351,"Anoxia-Ischemia, Cerebral | Hypoxia-Ischemia, Brain"
BMGC_DS07593,BMG_DS028352,"Hypoxia-Ischemia, Brain | brain hypoxia - ischemia"
BMGC_DS07594,BMG_DS028353,"Epilepsy, Partial, Sensory | partial sensory epilepsy"
BMGC_DS07595,BMG_DS028354,"Epilepsy, Partial, Motor | Focal Clonic Seizures"
BMGC_DS07596,BMG_DS028361,"Lupus Vasculitis, Central Nervous System | central nervous system lupus"
BMGC_DS07597,BMG_DS028362,"Lupus Meningoencephalitis | Lupus Vasculitis, Central Nervous System"
BMGC_DS07598,BMG_DS028363,"Lupus Vasculitis, Central Nervous System | Neuropsychiatric Systemic Lupus Erythematosus"
BMGC_DS07599,BMG_DS028365,Neuroaspergillosis | neuroaspergillosis
BMGC_DS07600,BMG_DS028366,Lewy Body Disease | Lewy body dementia
BMGC_DS07601,BMG_DS028367,"Muscular Disorders, Atrophic | atrophic muscular disease"
BMGC_DS07602,BMG_DS028369,myotonia fluctuans
BMGC_DS07603,BMG_DS028373,CT - Cerebral thrombosis | Cerebral arterial thrombosis | Cerebral arterial thrombosis (disorder) | Cerebral thrombosis | Thrombosis of cerebral arteries
BMGC_DS07604,BMG_DS028374,omphalocele | umbilical hernia
BMGC_DS07605,BMG_DS028391,Recombinant chromosome 8 syndrome | Recombinant chromosome 8 syndrome (disorder) | San Luis Valley syndrome | recombinant 8 syndrome
BMGC_DS07606,BMG_DS028396,CHROMOSOME 9p DELETION SYNDROME | chromosome 9p deletion syndrome
BMGC_DS07607,BMG_DS028398,KLEEFSTRA SYNDROME 1 | Kleefstra syndrome 1
BMGC_DS07608,BMG_DS028403,Jacobsen Distal 11q Deletion Syndrome | Jacobsen Syndrome | Jacobsen syndrome
BMGC_DS07609,BMG_DS028416,Smith-Magenis syndrome | Smith-Magenis syndrome (disorder)
BMGC_DS07610,BMG_DS028426,"autism, susceptibility to, X-linked 4"
BMGC_DS07611,BMG_DS028427,Allan-Herndon-Dudley syndrome
BMGC_DS07612,BMG_DS028429,Alopecia contractures dwarfism mental retardation | alopecia - contractures - dwarfism - intellectual disability syndrome
BMGC_DS07613,BMG_DS028430,Cleft Palate-Lateral Synechia Syndrome | cleft palate-lateral synechia syndrome
BMGC_DS07614,BMG_DS028432,"Coloboma, cleft lip-palate and mental retardation syndrome | uveal coloboma-cleft lip and palate-intellectual disability"
BMGC_DS07615,BMG_DS028433,Cantu syndrome | Cantu's syndrome | Cantu's syndrome (disorder) | hypertrichotic osteochondrodysplasia Cantu type
BMGC_DS07616,BMG_DS028434,CONOTRUNCAL ANOMALY FACE SYNDROME
BMGC_DS07617,BMG_DS028435,COWCHOCK SYNDROME | Charcot-Marie-Tooth disease X-linked recessive 4
BMGC_DS07618,BMG_DS028436,"Congenital cataract, nephropathy, encephalopathy syndrome | Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Crome syndrome | cataract-nephropathy-encephalopathy syndrome"
BMGC_DS07619,BMG_DS028437,Curry-Jones syndrome | Winter Shortland Temple syndrome
BMGC_DS07620,BMG_DS028438,"Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type | alpha thalassemia-intellectual disability syndrome type 1"
BMGC_DS07621,BMG_DS028440,"DOORS syndrome | Deafness, congenital onychodystrophy, recessive form"
BMGC_DS07622,BMG_DS028441,Edinburgh Malformation Syndrome | Edinburgh malformation syndrome
BMGC_DS07623,BMG_DS028442,DOORS syndrome | Digitorenocerebral Syndrome
BMGC_DS07624,BMG_DS028444,AMINOPTERIN SYNDROME SINE AMINOPTERIN | pseudoaminopterin syndrome
BMGC_DS07625,BMG_DS028445,"Filippi syndrome | Filippi syndrome (disorder) | Type 1 syndactyly, microcephaly, intellectual disability syndrome"
BMGC_DS07626,BMG_DS028446,Fine-Lubinsky syndrome
BMGC_DS07627,BMG_DS028448,"Deafness with skeletal dysplasia and lip granuloma syndrome | Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Deafness, skeletal dysplasia, coarse face with full lips syndrome | Fountain syndrome | fountain syndrome"
BMGC_DS07628,BMG_DS028450,"Galloway Mowat syndrome | Galloway Mowat syndrome (disorder) | Galloway syndrome | Galloway-Mowat syndrome | Microcephaly, hiatus hernia, nephrotic syndrome | Nephrosis, neuronal dysmigration syndrome"
BMGC_DS07629,BMG_DS028451,Corpus callosum agenesis neuronopathy | agenesis of the corpus callosum with peripheral neuropathy
BMGC_DS07630,BMG_DS028452,XK aprosencephaly
BMGC_DS07631,BMG_DS028453,"Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome | Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder) | MASA (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome | MASA syndrome | Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome"
BMGC_DS07632,BMG_DS028454,Anderson syndrome | Chylomicron retention disease | Chylomicron retention disease (disorder) | Hypertriglyceridaemia | Lipid transport defect of intestine | chylomicron retention disease
BMGC_DS07633,BMG_DS028455,Cerebellotrigeminal dermal dysplasia syndrome | Gomez Lopez Hernandez syndrome | Gomez Lopez Hernandez syndrome (disorder) | Gomez-Lopez-Hernandez syndrome
BMGC_DS07634,BMG_DS028456,"X-linked mental retardation Gustavson type | severe X-linked intellectual disability, Gustavson type"
BMGC_DS07635,BMG_DS028457,Cholestasis with pigmentary retinopathy and cleft palate syndrome | Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Hardikar syndrome | cholestasis-pigmentary retinopathy-cleft palate syndrome
BMGC_DS07636,BMG_DS028459,"bullous dystrophy, macular type"
BMGC_DS07637,BMG_DS028462,Infantile bilateral striatal necrosis | Infantile striatonigral degeneration | Infantile striatonigral degeneration (disorder) | infantile bilateral striatal necrosis
BMGC_DS07638,BMG_DS028463,JACKSON-WEISS SYNDROME | Jackson-Weiss syndrome
BMGC_DS07639,BMG_DS028467,Juberg-Marsidi syndrome
BMGC_DS07640,BMG_DS028468,Kabuki syndrome
BMGC_DS07641,BMG_DS028469,Kapur Toriello syndrome | Kapur Toriello syndrome (disorder) | Kapur-Toriello syndrome
BMGC_DS07642,BMG_DS028470,Kifafa seizure disorder
BMGC_DS07643,BMG_DS028471,Krause-Kivlin syndrome | Peters plus syndrome
BMGC_DS07644,BMG_DS028472,Zimmerman Laband syndrome | Zimmermann-Laband syndrome
BMGC_DS07645,BMG_DS028473,"microphthalmia, syndromic 1"
BMGC_DS07646,BMG_DS028474,Spastic paraplegia 23 | hereditary spastic paraplegia 23
BMGC_DS07647,BMG_DS028475,Lowry Maclean syndrome | Lowry-MacLean syndrome
BMGC_DS07648,BMG_DS028476,"Epiphyseal dysplasia, microcephalus, nystagmus syndrome | Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | Lowry Wood syndrome | Lowry-Wood syndrome"
BMGC_DS07649,BMG_DS028477,Lujan Fryns syndrome | X-linked intellectual disability with marfanoid habitus | syndromic X-linked intellectual disability 14
BMGC_DS07650,BMG_DS028478,Lysine Malabsorption Syndrome | lysine malabsorption syndrome
BMGC_DS07651,BMG_DS028479,MacDermot Winter syndrome | Prominent glabella with microcephaly and hypogenitalism syndrome | Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) | prominent glabella-microcephaly-hypogenitalism syndrome
BMGC_DS07652,BMG_DS028480,"ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION | Arts syndrome"
BMGC_DS07653,BMG_DS028481,Cardiogenital syndrome | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) | Malouf syndrome | Najjar syndrome | dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
BMGC_DS07654,BMG_DS028482,3MC syndrome 3 | Malpuech facial clefting syndrome
BMGC_DS07655,BMG_DS028483,MARDEN-WALKER SYNDROME | Marden-Walker syndrome
BMGC_DS07656,BMG_DS028485,Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | Martsolf syndrome
BMGC_DS07657,BMG_DS028487,Reardon Wilson Cavanagh syndrome | ataxia - deafness - intellectual disability syndrome
BMGC_DS07658,BMG_DS028488,Gurrieri Sammito Bellussi syndrome | Skeletal dysplasia with epilepsy and short stature syndrome | Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | skeletal dysplasia-epilepsy-short stature syndrome
BMGC_DS07659,BMG_DS028489,Mercaptolactate-Cysteine Disulfiduria | encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
BMGC_DS07660,BMG_DS028491,Mexican Cardiomelic Dysplasia | mesoaxial hexadactyly and cardiac malformation
BMGC_DS07661,BMG_DS028492,3MC syndrome 1 | Oculopalatoskeletal syndrome
BMGC_DS07662,BMG_DS028494,Jawad syndrome
BMGC_DS07663,BMG_DS028495,Microcephaly cervical spine fusion anomalies | microcephaly-cervical spine fusion anomalies syndrome
BMGC_DS07664,BMG_DS028496,Feingold syndrome | Oculodigitoesophagoduodenal syndrome
BMGC_DS07665,BMG_DS028497,"MICROPHTHALMIA, SYNDROMIC 7 | linear skin defects with multiple congenital anomalies 1"
BMGC_DS07666,BMG_DS028498,"Mirhosseini-Holmes-Walton syndrome | retinopathy, pigmentary, and intellectual disability"
BMGC_DS07667,BMG_DS028499,MOHR-TRANEBJAERG SYNDROME | deafness dystonia syndrome
BMGC_DS07668,BMG_DS028503,"Facial dysmorphism, intellectual deficit, short stature and hearing loss | Laryngotracheal stenosis, arthropathy, prognathism and short stature | Myhre syndrome | Myhre syndrome (disorder)"
BMGC_DS07669,BMG_DS028504,Cardiogenital syndrome | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) | Malouf syndrome | Najjar syndrome | dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
BMGC_DS07670,BMG_DS028505,Nance-Horan syndrome | Nance-Horan syndrome (disorder)
BMGC_DS07671,BMG_DS028506,Neuhauser syndrome | megalocornea-intellectual disability syndrome
BMGC_DS07672,BMG_DS028508,"LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE | Norman-Roberts syndrome"
BMGC_DS07673,BMG_DS028509,Delleman-Oorthuys syndrome | Oculocerebrocutaneous syndrome | Oculocerebrocutaneous syndrome (disorder) | oculocerebrocutaneous syndrome
BMGC_DS07674,BMG_DS028510,Odontoonychodermal dysplasia | odonto-onycho-dermal dysplasia
BMGC_DS07675,BMG_DS028511,"Blepharophimosis syndrome Ohdo type | Ohdo syndrome | blepharophimosis - intellectual disability syndrome, Ohdo type"
BMGC_DS07676,BMG_DS028512,C syndrome | Opitz trigonocephaly syndrome
BMGC_DS07677,BMG_DS028513,CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY | Juberg-Hayward syndrome
BMGC_DS07678,BMG_DS028514,Orofaciodigital Syndrome VII | orofaciodigital syndrome VII
BMGC_DS07679,BMG_DS028515,Orofaciodigital syndrome 8 | orofaciodigital syndrome VIII
BMGC_DS07680,BMG_DS028516,Orofaciodigital syndrome 9 | orofaciodigital syndrome IX
BMGC_DS07681,BMG_DS028518,"Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor | Perlman syndrome"
BMGC_DS07682,BMG_DS028519,Pitt-Rogers-Danks Syndrome | Wolf-Hirschhorn Syndrome | Wolf-Hirschhorn syndrome
BMGC_DS07683,BMG_DS028522,"Intellectual disability, cataract, calcified pinna, myopathy syndrome | Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) | Primrose syndrome"
BMGC_DS07684,BMG_DS028523,Cataract ataxia deafness | cataract-ataxia-deafness syndrome
BMGC_DS07685,BMG_DS028524,Proud Syndrome | corpus callosum agenesis-abnormal genitalia syndrome
BMGC_DS07686,BMG_DS028525,Absent Eyebrows and Eyelashes with Mental Retardation | pseudoprogeria syndrome
BMGC_DS07687,BMG_DS028526,AICARDI-GOUTIERES SYNDROME 1 | Aicardi-Goutieres syndrome 1
BMGC_DS07688,BMG_DS028527,Ramon Syndrome | Ramon syndrome
BMGC_DS07689,BMG_DS028528,Renpenning syndrome | Renpenning syndrome 1
BMGC_DS07690,BMG_DS028530,3C syndrome | Cranio-cerebello-cardiac dysplasia syndrome | Cranio-cerebello-cardiac dysplasia syndrome (disorder) | Craniocerebellocardiac dysplasia | Ritscher Schinzel syndrome | Ritscher-Schinzel syndrome
BMGC_DS07691,BMG_DS028532,"Oculodental syndrome Rutherfurd syndrome | oculodental syndrome, Rutherfurd type"
BMGC_DS07692,BMG_DS028533,Sao Paulo MCA-MR Syndrome | microbrachycephaly-ptosis-cleft lip syndrome
BMGC_DS07693,BMG_DS028534,Acrocallosal Syndrome | acrocallosal syndrome
BMGC_DS07694,BMG_DS028535,Scott Syndrome | Scott syndrome
BMGC_DS07695,BMG_DS028536,"SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | Simpson-Golabi-Behmel syndrome type 1"
BMGC_DS07696,BMG_DS028538,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE | syndromic X-linked intellectual disability Snyder type"
BMGC_DS07697,BMG_DS028539,Congenital heart defect with round face and developmental delay syndrome | Congenital heart defect with round face and developmental delay syndrome (disorder) | Sonoda syndrome | congenital heart defect-round face-developmental delay syndrome
BMGC_DS07698,BMG_DS028541,"Spondylometaphyseal Dysplasia, X-Linked | spondylometaphyseal dysplasia, Golden type"
BMGC_DS07699,BMG_DS028542,Spondyloperipheral dysplasia short ulna | spondyloperipheral dysplasia
BMGC_DS07700,BMG_DS028543,Stuve-Wiedemann syndrome
BMGC_DS07701,BMG_DS028544,Brachycephalofrontonasal dysplasia | Craniofrontonasal dysplasia Teebi type | Hypertelorism Teebi type | Hypertelorism Teebi type (disorder) | Teebi hypertelorism syndrome | Teebi syndrome
BMGC_DS07702,BMG_DS028545,Acromelic frontonasal dysplasia | Acromelic frontonasal dysplasia (disorder) | Toriello syndrome
BMGC_DS07703,BMG_DS028546,"Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence | Toriello-Carey syndrome"
BMGC_DS07704,BMG_DS028548,Van Den Bosch Syndrome | van den Bosch syndrome
BMGC_DS07705,BMG_DS028549,Early onset parkinsonism and intellectual disability syndrome | Early onset parkinsonism and intellectual disability syndrome (disorder) | Laxova Opitz syndrome | Waisman syndrome | early-onset parkinsonism-intellectual disability syndrome
BMGC_DS07706,BMG_DS028550,Blepharonasofacial malformation syndrome | Blepharonasofacial malformation syndrome (disorder) | Pashayan Prozansky syndrome | Pashayan syndrome | blepharonasofacial malformation syndrome
BMGC_DS07707,BMG_DS028552,Wieacker-Wolff syndrome
BMGC_DS07708,BMG_DS028554,WOODS SYNDROME | microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
BMGC_DS07709,BMG_DS028555,Congenital suprabulbar paresis | Congenital suprabulbar paresis (disorder) | Worster Drought syndrome | Worster-Drought syndrome
BMGC_DS07710,BMG_DS028556,"SPINOCEREBELLAR ATAXIA, X-LINKED 1 | X-linked progressive cerebellar ataxia | X-linked spinocerebellar ataxia 1"
BMGC_DS07711,BMG_DS028558,"intellectual disability, X-linked 2"
BMGC_DS07712,BMG_DS028559,"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE | methylmalonic acidemia and homocysteinemia cblX type | methylmalonic acidemia with homocystinuria, type cblX"
BMGC_DS07713,BMG_DS028560,"intellectual disability, X-linked 9"
BMGC_DS07714,BMG_DS028561,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12 | X-linked intellectual disability-short stature-overweight syndrome"
BMGC_DS07715,BMG_DS028562,"intellectual disability, X-linked 14"
BMGC_DS07716,BMG_DS028563,"RAYNAUD-CLAES SYNDROME | Raynaud-Claes syndrome | intellectual disability, X-linked 49"
BMGC_DS07717,BMG_DS028564,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | X-linked intellectual disability-psychosis-macroorchidism syndrome"
BMGC_DS07718,BMG_DS028565,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19 | intellectual disability, X-linked 19 | non-syndromic X-linked intellectual disability 19"
BMGC_DS07719,BMG_DS028566,"intellectual disability, X-linked 20"
BMGC_DS07720,BMG_DS028567,"intellectual disability, X-linked 23"
BMGC_DS07721,BMG_DS028568,Bohring Opitz syndrome | Bohring Opitz syndrome (disorder) | Bohring syndrome | Bohring-Opitz syndrome | C-like syndrome | Opitz trigonocephaly-like syndrome
BMGC_DS07722,BMG_DS028569,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | intellectual disability, X-linked 30 | non-syndromic X-linked intellectual disability 30"
BMGC_DS07723,BMG_DS028570,CHROMOSOME Xp11.22 DUPLICATION SYNDROME | chromosome Xp11.22 duplication syndrome
BMGC_DS07724,BMG_DS028571,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29 | intellectual disability, X-linked, with or without seizures, arx-related | non-syndromic X-linked intellectual disability ARX-related"
BMGC_DS07725,BMG_DS028572,Partington X-linked intellectual disability syndrome | Partington syndrome | Partington x-linked mental retardation syndrome | Partington-Mulley syndrome | X-linked intellectual deficit-dystonia-dysarthria syndrome | X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder)
BMGC_DS07726,BMG_DS028573,"Pettigrew syndrome | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | syndromic X-linked intellectual disability 5"
BMGC_DS07727,BMG_DS028575,Sabinas brittle hair syndrome | Sabinas brittle hair syndrome (disorder)
BMGC_DS07728,BMG_DS028576,Brown-Vialetto-van Laere syndrome 1
BMGC_DS07729,BMG_DS028577,Brunner Syndrome | Brunner syndrome
BMGC_DS07730,BMG_DS028579,3MC syndrome 2 | Carnevale syndrome
BMGC_DS07731,BMG_DS028580,Acromegaloid facial appearance syndrome | Acromegaloid facial appearance syndrome (disorder) | acromegaloid facial appearance syndrome
BMGC_DS07732,BMG_DS028581,"CAHMR (cataract, hypertrichosis, mental retardation) syndrome | CAHMR syndrome | Congenital cataract with hypertrichosis and intellectual disability syndrome | Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | cataract-hypertrichosis-intellectual disability syndrome"
BMGC_DS07733,BMG_DS028584,adult choroid plexus cancer | adult choroid plexus neoplasm
BMGC_DS07734,BMG_DS028586,Ewing sarcoma
BMGC_DS07735,BMG_DS028587,childhood testicular germ cell tumor
BMGC_DS07736,BMG_DS028588,childhood ovarian germ cell tumor | pediatric ovarian germ cell tumor
BMGC_DS07737,BMG_DS028590,BSG syndrome | Branchio-skeleto-genital syndrome | Branchioskeletogenital syndrome | Branchioskeletogenital syndrome (disorder) | Elsahy-Waters syndrome
BMGC_DS07738,BMG_DS028594,malignant pleural mesothelioma
BMGC_DS07739,BMG_DS028595,oculodentodigital dysplasia
BMGC_DS07740,BMG_DS028596,Ulnar Nerve Palsy | Ulnar Neuropathies
BMGC_DS07741,BMG_DS028598,Chronobiology Disorders | Circadian Rhythm Disorders
BMGC_DS07742,BMG_DS028599,hypertriglyceridemia
BMGC_DS07743,BMG_DS028601,Alcohol Related Neurodevelopmental Disorder | Fetal Alcohol Spectrum Disorders
BMGC_DS07744,BMG_DS028603,Increased platelets | Platelet count above reference range | Platelet count above reference range (finding) | Thrombocythaemia | Thrombocythemia | Thrombocythemia (disorder) | Thrombocythemia (finding) | Thrombocytosis | Thrombocytosis (disorder) | thrombocytosis | thrombocytosis disease
BMGC_DS07745,BMG_DS028621,Spastic quadriplegic cerebral palsy
BMGC_DS07746,BMG_DS029146,Nontraumatic rupture of bladder | Nontraumatic rupture of bladder (disorder) | Rupture of bladder | Rupture of urinary bladder | Rupture of urinary bladder (disorder)
BMGC_DS07747,BMG_DS029148,acanthoma
BMGC_DS07748,BMG_DS029156,hypospadias
BMGC_DS07749,BMG_DS029157,eye carcinoma
BMGC_DS07750,BMG_DS029158,trachea carcinoma
BMGC_DS07751,BMG_DS029166,Helicobacter pylori infection | Infection caused by H. pylori (Helicobacter pylori) | Infection caused by Helicobacter pylori | Infection caused by Helicobacter pylori (disorder)
BMGC_DS07752,BMG_DS029172,cervix uteri carcinoma in situ | uterine cervix carcinoma in situ
BMGC_DS07753,BMG_DS029189,Pneumocystis Infections | Pneumocystis infectious disease
BMGC_DS07754,BMG_DS029191,"hypertension, pregnancy-induced"
BMGC_DS07755,BMG_DS029192,"Blood Coagulation Disorders, Inherited | inherited blood coagulation disorder"
BMGC_DS07756,BMG_DS029195,Respiratory Distress Syndrome
BMGC_DS07757,BMG_DS029199,Moraxella Infections | Moraxellaceae Infections | Moraxellaceae infectious disease
BMGC_DS07758,BMG_DS029202,endobronchial lipoma
BMGC_DS07759,BMG_DS029209,penile carcinoma | penis carcinoma
BMGC_DS07760,BMG_DS029210,bipolar I disorder
BMGC_DS07761,BMG_DS029211,viral laryngitis
BMGC_DS07762,BMG_DS029214,retinal melanoma
BMGC_DS07763,BMG_DS029215,renal pelvis papillary tumor
BMGC_DS07764,BMG_DS029218,neutropenia
BMGC_DS07765,BMG_DS029219,breast hemangioma
BMGC_DS07766,BMG_DS029222,invasive breast carcinoma
BMGC_DS07767,BMG_DS029223,Diabetic Cardiomyopathies
BMGC_DS07768,BMG_DS029225,Insulin-resistant diabetes mellitus
BMGC_DS07769,BMG_DS029226,Appendicitis | Ruptured Appendicitis
BMGC_DS07770,BMG_DS029230,Feeding Disorders | Feeding and Eating Disorders
BMGC_DS07771,BMG_DS029231,Papillary conjunctivitis | Papillary conjunctivitis (disorder) | papillary conjunctivitis
BMGC_DS07772,BMG_DS029232,hepatobiliary benign neoplasm | hepatobiliary neoplasm
BMGC_DS07773,BMG_DS029233,Bacterial keratitis | Bacterial keratitis (disorder)
BMGC_DS07774,BMG_DS029235,Bacterial meningitis caused by Gram-negative bacteria | Bacterial meningitis caused by Gram-negative bacteria (disorder) | Gram-negative bacterial meningitis | Meningitis with gram negative bacteria | bacterial meningitis caused by gram-negative bacteria
BMGC_DS07775,BMG_DS029237,Gram negative pneumonia | Pneumonia caused by Gram negative bacteria | Pneumonia caused by Gram negative bacteria (disorder) | Pneumonia caused by Gram-negative bacteria | pneumonia caused by gram negative bacteria
BMGC_DS07776,BMG_DS029238,Anaerobic bacterial infection | Infection caused by anaerobic bacteria | Infection caused by anaerobic bacteria (disorder) | anaerobic bacteria infectious disease
BMGC_DS07777,BMG_DS029240,eczema herpeticum | herpes simplex dermatitis
BMGC_DS07778,BMG_DS029245,functioning pituitary adenoma | functioning pituitary gland adenoma
BMGC_DS07779,BMG_DS029253,trichomegaly
BMGC_DS07780,BMG_DS029255,Retinal Dystrophies | fundus dystrophy | inherited retinal dystrophy
BMGC_DS07781,BMG_DS029256,liver cancer
BMGC_DS07782,BMG_DS029257,refractory T lymphoblastic leukemia/lymphoma | refractory precursor T-lymphoblastic lymphoma/leukemia
BMGC_DS07783,BMG_DS029258,pericardial mesothelioma
BMGC_DS07784,BMG_DS029259,peritoneal mesothelioma
BMGC_DS07785,BMG_DS029260,angiosarcoma
BMGC_DS07786,BMG_DS029261,pineal region germinoma
BMGC_DS07787,BMG_DS029262,bilateral retinoblastoma
BMGC_DS07788,BMG_DS029263,unilateral retinoblastoma
BMGC_DS07789,BMG_DS029264,kidney rhabdoid cancer | rhabdoid tumor of the kidney
BMGC_DS07790,BMG_DS029265,regional ureteric cancer
BMGC_DS07791,BMG_DS029266,endometrial serous adenocarcinoma
BMGC_DS07792,BMG_DS029267,paranasal sinus cancer | paranasal sinus carcinoma
BMGC_DS07793,BMG_DS029268,bone peripheral neuroepithelioma | peripheral primitive neuroectodermal tumor of bone
BMGC_DS07794,BMG_DS029269,localized chondrosarcoma
BMGC_DS07795,BMG_DS029270,extraosseous osteosarcoma
BMGC_DS07796,BMG_DS029272,relapsed/refractory diffuse large B-cell lymphoma
BMGC_DS07797,BMG_DS029274,embryonal carcinoma
BMGC_DS07798,BMG_DS029275,immature extragonadal teratoma | malignant teratoma
BMGC_DS07799,BMG_DS029276,placental choriocarcinoma
BMGC_DS07800,BMG_DS029277,malignant testicular germ cell tumor | testicular malignant germ cell cancer
BMGC_DS07801,BMG_DS029286,Acute exacerbation of COPD (chronic obstructive pulmonary disease) | Acute exacerbation of chronic bronchitis | Acute exacerbation of chronic bronchitis (disorder) | Acute exacerbation of chronic obstructive airways disease | Acute exacerbation of chronic obstructive pulmonary disease | Acute exacerbation of chronic obstructive pulmonary disease (disorder)
BMGC_DS07802,BMG_DS029288,Aneurysm of descending aorta | Aneurysm of descending aorta (disorder)
BMGC_DS07803,BMG_DS029290,Budd-Chiari Syndrome | Budd-Chiari syndrome
BMGC_DS07804,BMG_DS029293,dehydration polycythemia
BMGC_DS07805,BMG_DS029294,physiological polycythemia
BMGC_DS07806,BMG_DS029295,polycythemia due to hypoxia
BMGC_DS07807,BMG_DS029296,acute graft versus host disease
BMGC_DS07808,BMG_DS029297,Chondrocalcinosis 2 | chondrocalcinosis 2
BMGC_DS07809,BMG_DS029299,acquired hemangioma
BMGC_DS07810,BMG_DS029300,skin sarcoma
BMGC_DS07811,BMG_DS029301,Retinol Deficiency
BMGC_DS07812,BMG_DS029304,"Hyperbilirubinemia, Neonatal"
BMGC_DS07813,BMG_DS029314,"Pneumonia, Staphylococcal | Staphylococcus Aureus Pneumonia | staphylococcus aureus pneumonia"
BMGC_DS07814,BMG_DS029316,breast adenocarcinoma
BMGC_DS07815,BMG_DS029317,early-onset posterior polar cataract
BMGC_DS07816,BMG_DS029318,Dyschromatopsia
BMGC_DS07817,BMG_DS029319,"Blindness, Cortical | Blindness, Cortical, Transient"
BMGC_DS07818,BMG_DS029323,diffuse glomerulonephritis
BMGC_DS07819,BMG_DS029327,hair follicle neoplasm
BMGC_DS07820,BMG_DS029329,transient hypogammaglobulinemia
BMGC_DS07821,BMG_DS029330,Achalasia cardia | Idiopathic achalasia | Idiopathic achalasia of esophagus | Idiopathic achalasia of esophagus (disorder) | Idiopathic achalasia of oesophagus | Primary achalasia | idiopathic achalasia
BMGC_DS07822,BMG_DS029331,"Candidiasis, Vulvovaginal | Vaginal Yeast Infections"
BMGC_DS07823,BMG_DS029333,Leydig cell hypoplasia
BMGC_DS07824,BMG_DS029336,Cholestatic liver disease
BMGC_DS07825,BMG_DS029337,Chemical and Drug Induced Liver Injury | Drug-Induced Liver Disease | drug-induced liver injury
BMGC_DS07826,BMG_DS029339,"Hernia, Double Inguinal | hernia, double inguinal"
BMGC_DS07827,BMG_DS029342,Differentiation syndrome | Retinoic acid syndrome | Retinoic acid syndrome (disorder)
BMGC_DS07828,BMG_DS029343,breast medullary carcinoma | medullary breast carcinoma
BMGC_DS07829,BMG_DS029348,lobular neoplasia
BMGC_DS07830,BMG_DS029349,adenosquamous bile duct carcinoma
BMGC_DS07831,BMG_DS029350,bile duct clear cell adenocarcinoma | extrahepatic bile duct clear cell adenocarcinoma
BMGC_DS07832,BMG_DS029351,bile duct mucinous adenocarcinoma | extrahepatic bile duct mucinous adenocarcinoma
BMGC_DS07833,BMG_DS029352,papillary extrahepatic bile duct adenocarcinoma
BMGC_DS07834,BMG_DS029353,bile duct signet ring cell carcinoma | extrahepatic bile duct signet ring cell carcinoma
BMGC_DS07835,BMG_DS029354,squamous cell bile duct carcinoma
BMGC_DS07836,BMG_DS029355,B-lymphoblastic leukemia/lymphoma
BMGC_DS07837,BMG_DS029357,malignant epithelial mesothelioma | malignant epithelioid mesothelioma
BMGC_DS07838,BMG_DS029359,urethra transitional cell carcinoma
BMGC_DS07839,BMG_DS029360,rete testis adenocarcinoma
BMGC_DS07840,BMG_DS029361,testicular Leydig cell tumor
BMGC_DS07841,BMG_DS029362,Ewing sarcoma
BMGC_DS07842,BMG_DS029386,"Acquired polycythaemia, unspecified | Polycythemia due to fall in plasma volume | familial erythrocytosis 2"
BMGC_DS07843,BMG_DS029389,Idiopathic Parkinsonism or Parkinson's disease | Parkinson's disease 19A | Parkinson's disease 23 | Parkinson's disease 4
BMGC_DS07844,BMG_DS029390,Parkinson's disease 19A | Parkinson's disease 23 | Parkinson's disease 4 | Primary Parkinsonism or Parkinson's disease
BMGC_DS07845,BMG_DS029402,diffuse pulmonary fibrosis
BMGC_DS07846,BMG_DS029415,Chronic graft versus host disease | Chronic graft-versus-host disease | Chronic graft-versus-host disease (disorder) | chronic graft versus host disease
BMGC_DS07847,BMG_DS029420,Hypocalcaemic tetany in newborn | Hypocalcemic tetany in newborn | Late neonatal hypocalcaemia | Late neonatal hypocalcemia | Late neonatal hypocalcemia (disorder)
BMGC_DS07848,BMG_DS029425,Carditis | Carditis (disorder) | Myocarditis | inflammation of heart layer
BMGC_DS07849,BMG_DS029429,Acquired keratoderma palmaris et plantaris | Acquired keratosis palmaris et plantaris | Callosity | Excessive cornification | HK - Hyperkeratosis | Hyperkeratosis | Hyperkeratosis (disorder) | Hyperkeratosis (morphologic abnormality) | Hyperkeratosis of skin | Hyperkeratosis palmoplantaris climacterica | Keratoderma climactericum | Keratoma | Keratosis | Skin callus | Tyloma | Tylosis
BMGC_DS07850,BMG_DS029433,Loss of skeletal muscle mass | Sarcopenia | Sarcopenia (disorder) | obsolete sarcopenia
BMGC_DS07851,BMG_DS029434,mitochondrial neurogastrointestinal encephalomyopathy
BMGC_DS07852,BMG_DS029440,Schimke immuno-osseous dysplasia
BMGC_DS07853,BMG_DS029449,Patellofemoral Pain Syndrome | patellofemoral pain syndrome
BMGC_DS07854,BMG_DS029450,necrotizing gastritis
BMGC_DS07855,BMG_DS029454,Cardiomyopathy in the puerperium | Peripartum cardiomyopathy | peripartum cardiomyopathy
BMGC_DS07856,BMG_DS029460,thyroid malformation
BMGC_DS07857,BMG_DS029461,cerebral angioma | cerebral hemangioma
BMGC_DS07858,BMG_DS029464,Exostoses Of Heel | obsolete exostoses of heel
BMGC_DS07859,BMG_DS029466,Candidemia | Candidemia (disorder) | candidemia
BMGC_DS07860,BMG_DS029469,ovarian serous cystadenofibroma
BMGC_DS07861,BMG_DS029470,cervix melanoma
BMGC_DS07862,BMG_DS029473,Askin tumor | Ewing sarcoma
BMGC_DS07863,BMG_DS029474,Cerebral Arteriosclerosis | Intracranial Arteriosclerosis
BMGC_DS07864,BMG_DS029475,Cerebral Embolism and Thrombosis | Intracranial Embolism and Thrombosis
BMGC_DS07865,BMG_DS029476,aleukemic leukemia
BMGC_DS07866,BMG_DS029478,Arteriolosclerosis | Arteriolosclerosis (morphologic abnormality) | arteriolosclerosis
BMGC_DS07867,BMG_DS029483,Cardiomyopathies | cardiomyopathy
BMGC_DS07868,BMG_DS029484,Diffuse panbronchiolitis | Diffuse panbronchiolitis (disorder) | diffuse panbronchiolitis
BMGC_DS07869,BMG_DS029486,Posterior Leukoencephalopathy Syndrome | posterior leukoencephalopathy syndrome
BMGC_DS07870,BMG_DS029488,"acetylation, slow"
BMGC_DS07871,BMG_DS029489,Sphincter of Oddi Dysfunction
BMGC_DS07872,BMG_DS029492,Erdheim-Chester Disease | Erdheim-Chester disease
BMGC_DS07873,BMG_DS029493,6-pyruvoyl-tetrahydropterin synthase deficiency | BH4-deficient hyperphenylalaninemia A
BMGC_DS07874,BMG_DS029494,Danon disease | Glycogen Storage Disease Type IIb
BMGC_DS07875,BMG_DS029495,Dent disease | Dent's disease | Dent's disease (disorder)
BMGC_DS07876,BMG_DS029496,Deficiency of caeruloplasmin | Deficiency of ceruloplasmin | Deficiency of ferroxidase | Deficiency of ferroxidase (disorder) | aceruloplasminemia
BMGC_DS07877,BMG_DS029497,"pituitary hormone deficiency, combined, 2"
BMGC_DS07878,BMG_DS029498,SHORT syndrome
BMGC_DS07879,BMG_DS029499,Chronic localised conjunctival chemosis | Chronic localized conjunctival chemosis | Conjunctivochalasis | Conjunctivochalasis (disorder) | conjunctivochalasis
BMGC_DS07880,BMG_DS029503,Plica syndrome | Synovial Plica Syndrome | Synovitis
BMGC_DS07881,BMG_DS029504,"Overactive Bladder | Urinary Bladder, Overactive | overactive bladder | overactive bladder syndrome"
BMGC_DS07882,BMG_DS029506,familial renal papillary carcinoma | hereditary papillary renal cell carcinoma
BMGC_DS07883,BMG_DS029507,familial renal oncocytoma | hereditary kidney oncocytoma
BMGC_DS07884,BMG_DS029508,Cerebral Infarction | Posterior Choroidal Artery Infarction
BMGC_DS07885,BMG_DS029510,pancreatic ductal carcinoma
BMGC_DS07886,BMG_DS029511,aleukemic leukemia cutis
BMGC_DS07887,BMG_DS029512,"Polycystic Kidney, Autosomal Dominant | Polycystic Kidney, Type 1 Autosomal Dominant Disease | polycystic liver disease 1"
BMGC_DS07888,BMG_DS029516,"Becker Muscular Dystrophy | Becker muscular dystrophy | Muscular Dystrophy, Duchenne"
BMGC_DS07889,BMG_DS029517,Acroosteolysis dominant type | Hajdu-Cheney Syndrome | Hajdu-Cheney syndrome
BMGC_DS07890,BMG_DS029518,Plague | Pulmonic Plague
BMGC_DS07891,BMG_DS029519,"Leber hereditary optic neuropathy | Optic Atrophy, Hereditary, Leber"
BMGC_DS07892,BMG_DS029520,brain ischemia
BMGC_DS07893,BMG_DS029521,Disorders of Excessive Somnolence | Excessive sleep | Excessive sleepiness | Hypersomnia | Hypersomnia (disorder) | Hypersomnia (excessive sleeping) | Idiopathic hypersomnia | Sleeps too much | hypersomnia
BMGC_DS07894,BMG_DS029522,"Epilepsies, Myoclonic | Epilepsy, Myoclonic, Infantile | familial infantile myoclonic epilepsy"
BMGC_DS07895,BMG_DS029523,insomnia
BMGC_DS07896,BMG_DS029524,arteriovenous malformations of the brain
BMGC_DS07897,BMG_DS029525,"Ischemic Attack, Transient | Transient Cerebral Ischemia"
BMGC_DS07898,BMG_DS029526,"Haemophilus influenzae Meningitis Type B | Meningitis, Haemophilus | haemophilus meningitis"
BMGC_DS07899,BMG_DS029528,Nerve Compression Syndromes | Nerve Entrapment
BMGC_DS07900,BMG_DS029529,Tetanilla | Tetany
BMGC_DS07901,BMG_DS029531,esophageal diverticulosis
BMGC_DS07902,BMG_DS029534,"Muscular Atrophy, Spinal | Progressive Muscular Atrophy | progressive muscular atrophy"
BMGC_DS07903,BMG_DS029535,Acro-Osteolysis | Hajdu-Cheney syndrome | acroosteolysis
BMGC_DS07904,BMG_DS029536,Cerebral Aneurysm | Intracranial Aneurysm
BMGC_DS07905,BMG_DS029537,ovarian cancer | ovarian neoplasm
BMGC_DS07906,BMG_DS029538,Decreased Intraocular Pressure-Associated Papilledema | Papilledema | optic papillitis
BMGC_DS07907,BMG_DS029542,"Upper Extremity Deep Vein Thrombosis | Upper Extremity Deep Vein Thrombosis, Primary"
BMGC_DS07908,BMG_DS029543,postauricular lymphadenitis
BMGC_DS07909,BMG_DS029548,Cytokine Release Syndrome | Cytokine Storm
BMGC_DS07910,BMG_DS029549,axillary adenitis | axillary lymphadenitis
BMGC_DS07911,BMG_DS029560,eyelid carcinoma
BMGC_DS07912,BMG_DS029562,small intestine leiomyosarcoma
BMGC_DS07913,BMG_DS029564,"spondyloepimetaphyseal dysplasia, Sponastrime type"
BMGC_DS07914,BMG_DS029565,"Autoimmune lymphocytic chronic thyroiditis | Autoimmune thyroiditis | Autoimmune thyroiditis (disorder) | Autoimmune thyroiditis, unspecified | Chronic lymphocytic thyroiditis | Hashimoto thyroiditis | Hashimoto thyroiditis (disorder) | Hashimoto's disease | Hashimoto's thyroiditis | Lymphocytic thyroiditis | Struma lymphomatosa | Struma lymphomatosis | Thyroiditis: [chronic lymphocytic] or [autoimmune] or [Hashimoto's] | Thyroiditis: [chronic lymphocytic] or [autoimmune] or [Hashimoto's] (disorder) | autoimmune thyroid disease | autoimmune thyroiditis"
BMGC_DS07915,BMG_DS029569,Androgen-Insensitivity Syndrome | Testicular Feminization | complete androgen insensitivity syndrome
BMGC_DS07916,BMG_DS029570,Vitamin B 6 Deficiency | pyridoxine deficiency anemia
BMGC_DS07917,BMG_DS029572,AIDS Dementia Complex | HIV-1-Associated Cognitive Motor Complex
BMGC_DS07918,BMG_DS029574,Brain Embolism and Thrombosis | Intracranial Embolism and Thrombosis
BMGC_DS07919,BMG_DS029575,chondroma
BMGC_DS07920,BMG_DS029576,Eczema Herpeticum | Kaposi Varicelliform Eruption | eczema herpeticum
BMGC_DS07921,BMG_DS029577,Polyradiculitis | Polyradiculopathy
BMGC_DS07922,BMG_DS029579,Hyperlysinemias | Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
BMGC_DS07923,BMG_DS029581,Brain Thrombus | Intracranial Thrombosis
BMGC_DS07924,BMG_DS029582,Cerebral Thrombus | Intracranial Thrombosis
BMGC_DS07925,BMG_DS029583,"Amyloid Neuropathies, Familial | Familial Amyloid Polyneuropathy, Type IV"
BMGC_DS07926,BMG_DS029584,blastoma | embryoma
BMGC_DS07927,BMG_DS029585,lipoma of colon
BMGC_DS07928,BMG_DS029593,Biliary calculus | Biliary calculus (disorder) | Cholecystolithiasis | GS - Gallstone | Gallbladder calculus | Gallbladder calculus (disorder) | Gallbladder stones | Gallstone | Gallstones | cholecystolithiasis
BMGC_DS07929,BMG_DS029596,Ischaemic stroke | Ischemic stroke | Ischemic stroke (disorder)
BMGC_DS07930,BMG_DS029597,Bacterial gastritis | Gastritis caused by bacterium | Gastritis caused by bacterium (disorder) | bacterial gastritis
BMGC_DS07931,BMG_DS029601,Acute Coronary Syndrome | acute coronary syndrome
BMGC_DS07932,BMG_DS029605,(Respiratory disease NOS) or (adult respiratory distress syndrome) or (pneumomediastinum) or (tracheomalacia) | (Respiratory disease NOS) or (adult respiratory distress syndrome) or (pneumomediastinum) or (tracheomalacia) (disorder) | Adult respiratory distress syndrome | Pmeumomediastinum | Pneumomediastinum | Resp. distress synd. - adult | Respirat distress synd-adult | Respiratory disease NOS | Tracheomalacia | Tracheomalacia (disorder) | tracheomalacia
BMGC_DS07933,BMG_DS029607,Citrobacter infection | Infection caused by Citrobacter | Infection caused by Citrobacter (disorder)
BMGC_DS07934,BMG_DS029609,ovarian adenocarcinoma | ovary adenocarcinoma
BMGC_DS07935,BMG_DS029611,Cytokine Release Syndrome | cytokine release syndrome
BMGC_DS07936,BMG_DS029614,Haemodynamic instability | Hemodynamic instability | Hemodynamic instability (finding)
BMGC_DS07937,BMG_DS029621,McKusick-Kaufman syndrome
BMGC_DS07938,BMG_DS029629,Coronary Restenosis | coronary restenosis
BMGC_DS07939,BMG_DS029635,Fungal gastritis | Gastritis caused by fungus | Gastritis caused by fungus (disorder) | fungal gastritis
BMGC_DS07940,BMG_DS029638,pituitary hypoplasia
BMGC_DS07941,BMG_DS029639,retroperitoneum carcinoma
BMGC_DS07942,BMG_DS029640,salivary gland carcinoma
BMGC_DS07943,BMG_DS029643,Gastrointestinal hypomotility | Gastrointestinal hypomotility (disorder)
BMGC_DS07944,BMG_DS029646,Hypergonadotropic hypogonadism | Primary hypogonadism | Primary hypogonadism (disorder)
BMGC_DS07945,BMG_DS029648,intraductal breast benign neoplasm | intraductal breast neoplasm
BMGC_DS07946,BMG_DS029649,rectal cancer | rectum cancer
BMGC_DS07947,BMG_DS029651,polyp of large intestine
BMGC_DS07948,BMG_DS029652,HAP - hospital acquired pneumonia | Hospital acquired pneumonia | Nosocomial pneumonia | Nosocomial pneumonia (disorder)
BMGC_DS07949,BMG_DS029653,Adenosine deaminase superactivity (disorder) | Anaemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] | Anaemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] (disorder) | Anemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] | Chronic constitutional pure red cell anaemia | Chronic constitutional pure red cell anemia | Chronic constitutional pure red cell aplasia | Congenital erythroid hypoplasia | Congenital hypoplastic anaemia | Congenital hypoplastic anemia | Congenital red cell aplasia | Constitutional aplastic anaemia without mention of malformation | Constitutional aplastic anemia without mention of malformation | Diamond-Blackfan anaemia | Diamond-Blackfan anemia | Diamond-Blackfan syndrome | Familial hypoplastic anaemia | Familial hypoplastic anemia | congenital hypoplastic anemia
BMGC_DS07950,BMG_DS029654,Acute laryngitis with obstruction | Acute laryngitis with obstruction (disorder) | acute laryngitis
BMGC_DS07951,BMG_DS029664,Crohn Disease | Ileocolitis | ileocolitis
BMGC_DS07952,BMG_DS029665,gonadal agenesis
BMGC_DS07953,BMG_DS029666,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Neonatal Diseases and Abnormalities"
BMGC_DS07954,BMG_DS029667,Luft Disease | Mitochondrial Myopathies
BMGC_DS07955,BMG_DS029669,Mibelli's disease | Porokeratosis | Porokeratosis of Mibelli | Porokeratosis of Mibelli (disorder) | porokeratosis of Mibelli
BMGC_DS07956,BMG_DS029670,wheat allergy
BMGC_DS07957,BMG_DS029671,46 XX gonadal dysgenesis | ovarian dysgenesis 1
BMGC_DS07958,BMG_DS029673,"Cardiomyopathy, Hypertrophic, Familial | familial hypertrophic cardiomyopathy"
BMGC_DS07959,BMG_DS029674,Tauopathies | tauopathy
BMGC_DS07960,BMG_DS029676,Arthritis of spine | Arthritis of spine (disorder) | Inflammatory spondylopathy | Spondylarthritis | inflammatory spondylopathy
BMGC_DS07961,BMG_DS029677,Spondylarthropathies | spondyloarthropathy
BMGC_DS07962,BMG_DS029678,Polyomavirus Infections | polyomavirus infectious disease
BMGC_DS07963,BMG_DS029679,"Electron Transport Chain Deficiencies, Mitochondrial | Mitochondrial Diseases"
BMGC_DS07964,BMG_DS029680,Mitochondrial Diseases | Oxidative Phosphorylation Deficiencies
BMGC_DS07965,BMG_DS029681,Mitochondrial Diseases | Mitochondrial Respiratory Chain Deficiencies
BMGC_DS07966,BMG_DS029684,Denys-Drash Syndrome | Denys-Drash syndrome
BMGC_DS07967,BMG_DS029685,Frasier Syndrome | Frasier syndrome
BMGC_DS07968,BMG_DS029686,"Genetic Diseases, Inborn"
BMGC_DS07969,BMG_DS029687,Disease caused by Papilloma virus | Disease caused by Papillomavirus | Disease caused by Papillomavirus (disorder) | Disease due to Papilloma virus
BMGC_DS07970,BMG_DS029688,Autosomal Chromosome Disorders | Chromosome Disorders
BMGC_DS07971,BMG_DS029690,Aphasia | Dysphasia | Dysphasia (disorder) | Dysphasia (finding) | aphasia
BMGC_DS07972,BMG_DS029692,Duane Retraction Syndrome | Duane syndrome type 1 | Type 1 Duane Retraction Syndrome
BMGC_DS07973,BMG_DS029694,Drug Resistant Epilepsy
BMGC_DS07974,BMG_DS029701,Kinsbourne Syndrome | Opsoclonus-Myoclonus Syndrome
BMGC_DS07975,BMG_DS029702,Macrophage Activation Syndrome | macrophage activation syndrome
BMGC_DS07976,BMG_DS029712,pancreas sarcoma
BMGC_DS07977,BMG_DS029713,neurofibroma of the heart
BMGC_DS07978,BMG_DS029720,Peptostreptococcus infection | Peptostreptococcus infection (disorder) | Peptostreptococcus infectious disease
BMGC_DS07979,BMG_DS029725,ovarian cystadenocarcinoma
BMGC_DS07980,BMG_DS029726,appendix mucinous cystadenocarcinoma
BMGC_DS07981,BMG_DS029731,"Infantile Sialic Acid Storage Disease | Sialic Acid Storage Disease | free sialic acid storage disease, infantile form"
BMGC_DS07982,BMG_DS029732,"Adult sialic acid storage disease | Salla disease | Salla disease (disorder) | Sialuria, Finnish type"
BMGC_DS07983,BMG_DS029733,nipple benign neoplasm | nipple neoplasm
BMGC_DS07984,BMG_DS029736,Sensorimotor neuropathy
BMGC_DS07985,BMG_DS029739,epiglottis cancer
BMGC_DS07986,BMG_DS029741,peripheral primitive neuroectodermal tumor of soft tissues | soft tissue peripheral neuroepithelioma
BMGC_DS07987,BMG_DS029744,esophageal small cell neuroendocrine carcinoma | esophagus small cell carcinoma
BMGC_DS07988,BMG_DS029745,aggressive systemic mastocytosis
BMGC_DS07989,BMG_DS029747,oral mucosa leukoplakia
BMGC_DS07990,BMG_DS029748,paraneoplastic pemphigus
BMGC_DS07991,BMG_DS029750,"Gastritis, unspecified | Granulomatous gastritis | granulomatous gastritis"
BMGC_DS07992,BMG_DS029755,liver lymphoma
BMGC_DS07993,BMG_DS029756,sickle cell-hemoglobin E disease syndrome
BMGC_DS07994,BMG_DS029758,childhood spinal cord tumor
BMGC_DS07995,BMG_DS029759,invasive ductal carcinoma
BMGC_DS07996,BMG_DS029761,aqueous misdirection
BMGC_DS07997,BMG_DS029762,"Heart Failure, Systolic | systolic heart failure"
BMGC_DS07998,BMG_DS029764,"Heart Failure, Diastolic | diastolic heart failure"
BMGC_DS07999,BMG_DS029768,Dieulafoy lesion | Dieulafoy lesion (hemorrhagic) of stomach and duodenum
BMGC_DS08000,BMG_DS029779,"Meningitis, Meningococcal | Meningitis, Meningococcal, Serogroup A | meningococcal meningitis"
BMGC_DS08001,BMG_DS029780,"Meningitis, Meningococcal | Meningitis, Meningococcal, Serogroup B | meningococcal meningitis"
BMGC_DS08002,BMG_DS029781,"Meningitis, Meningococcal | Meningitis, Meningococcal, Serogroup C | meningococcal meningitis"
BMGC_DS08003,BMG_DS029782,"Acquired Metabolic Diseases, Nervous System | Brain Diseases, Metabolic"
BMGC_DS08004,BMG_DS029785,gestational trophoblastic neoplasm
BMGC_DS08005,BMG_DS029787,non-gestational choriocarcinoma
BMGC_DS08006,BMG_DS029788,"Wasting Disease, Chronic | chronic wasting disease"
BMGC_DS08007,BMG_DS029789,cutaneous mastocytosis
BMGC_DS08008,BMG_DS029790,Plasma cell dyscrasia | Plasma cell dyscrasia (disorder) | plasma cell neoplasm
BMGC_DS08009,BMG_DS029792,Dehydration | Water Stress
BMGC_DS08010,BMG_DS029795,"Meningitis, Meningococcal | Meningitis, Meningococcal, Serogroup Y | meningococcal meningitis"
BMGC_DS08011,BMG_DS029796,"Meningitis, Meningococcal | Meningitis, Meningococcal, Serogroup W-135 | meningococcal meningitis"
BMGC_DS08012,BMG_DS029797,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED | X-linked intellectual disability"
BMGC_DS08013,BMG_DS029798,HIV-Associated Lipodystrophy Syndrome
BMGC_DS08014,BMG_DS029800,Polycystic Ovary Syndrome | Sclerocystic Ovaries
BMGC_DS08015,BMG_DS029801,"Retinoschisis | Retinoschisis, Degenerative"
BMGC_DS08016,BMG_DS029803,"Genetic Diseases, X-Linked | X-linked disease"
BMGC_DS08017,BMG_DS029804,ovarian cancer
BMGC_DS08018,BMG_DS029805,Congenital long QT syndrome | Familial long QT syndrome | Familial long QT syndrome (disorder) | Inherited long QT syndrome | familial long QT syndrome
BMGC_DS08019,BMG_DS029806,Purple glove syndrome | Purple glove syndrome (disorder)
BMGC_DS08020,BMG_DS029811,Carnitine deficiency | Carnitine deficiency (disorder)
BMGC_DS08021,BMG_DS029813,Brugada syndrome
BMGC_DS08022,BMG_DS029823,Bacteraemia caused by Staphylococcus aureus | Bacteremia caused by Staphylococcus aureus | Bacteremia caused by Staphylococcus aureus (finding) | Staphylococcus aureus bacteraemia | Staphylococcus aureus bacteremia
BMGC_DS08023,BMG_DS029830,autonomic nervous system disorder
BMGC_DS08024,BMG_DS029831,Respiratory Failure | Respiratory Insufficiency | respiratory failure
BMGC_DS08025,BMG_DS029832,"Diverticulosis, Stomach | Stomach Diverticulosis | stomach diverticulosis"
BMGC_DS08026,BMG_DS029833,"Dyskeratosis Congenita | X-Linked Dyskeratosis Congenita | dyskeratosis congenita, X-linked"
BMGC_DS08027,BMG_DS029834,endometrial adenocarcinoma | endometrium adenocarcinoma
BMGC_DS08028,BMG_DS029835,chronic polyneuropathy
BMGC_DS08029,BMG_DS029838,Pericarditis | Pleuropericarditis
BMGC_DS08030,BMG_DS029840,Cogan-Reese syndrome | Cogan-Reese syndrome (disorder) | Iris naevus syndrome | Iris nevus syndrome | Nodular unilateral glaucoma | Nodular unilateral glaucoma (disorder)
BMGC_DS08031,BMG_DS029842,recurrent respiratory papillomatosis
BMGC_DS08032,BMG_DS029843,infectious otitis interna | otitis interna
BMGC_DS08033,BMG_DS029847,head and neck squamous cell carcinoma
BMGC_DS08034,BMG_DS029850,Severe Acute Respiratory Syndrome | severe acute respiratory syndrome
BMGC_DS08035,BMG_DS029851,breast ductal carcinoma
BMGC_DS08036,BMG_DS029853,Child Malnutrition | Child Nutrition Disorders
BMGC_DS08037,BMG_DS029854,Disorder of hyperalimentation | Disorder of hyperalimentation (disorder) | Overfed | Overnutrition | overnutrition
BMGC_DS08038,BMG_DS029855,Child Nutrition Disorders | Child Overnutrition
BMGC_DS08039,BMG_DS029856,Infant Nutrition Disorders | Infant Overnutrition
BMGC_DS08040,BMG_DS029857,"Steroid Metabolism, Inborn Errors | steroid inherited metabolic disorder"
BMGC_DS08041,BMG_DS029858,Clostridium difficile colitis
BMGC_DS08042,BMG_DS029859,"Clostridium Enterocolitis | Clostridium difficile colitis | Enterocolitis, Pseudomembranous"
BMGC_DS08043,BMG_DS029860,"Clostridium difficile colitis | Enteritis, Pseudomembranous | Enterocolitis, Pseudomembranous"
BMGC_DS08044,BMG_DS029867,extra-adrenal sympathetic paraganglioma
BMGC_DS08045,BMG_DS029869,Intestinal Polyposis | gastrointestinal polyp
BMGC_DS08046,BMG_DS029870,Glucose Metabolism Disorders | glucose metabolism disease
BMGC_DS08047,BMG_DS029872,Endogenous Hyperinsulinism | Hyperinsulinism
BMGC_DS08048,BMG_DS029873,Exogenous Hyperinsulinism | Hyperinsulinism
BMGC_DS08049,BMG_DS029874,Compensatory Hyperinsulinemia | Hyperinsulinism
BMGC_DS08050,BMG_DS029878,Barrett Epithelium | Barrett Esophagus
BMGC_DS08051,BMG_DS029880,"Diffuse Scleroderma | Scleroderma, Diffuse | diffuse scleroderma"
BMGC_DS08052,BMG_DS029881,Bowel obstruction | IO - Intestinal obstruction | Ileus | Ileus (disorder) | Intestinal obstruction | Intestinal obstruction (disorder) | Obstruction of intestine | ileus
BMGC_DS08053,BMG_DS029889,Moraxellaceae Infections | Moraxellaceae infectious disease
BMGC_DS08054,BMG_DS029890,Moraxellaceae Infections | Moraxellaceae infectious disease | Psychobacter Infections
BMGC_DS08055,BMG_DS029891,follicular dendritic cell sarcoma
BMGC_DS08056,BMG_DS029892,interdigitating dendritic cell sarcoma
BMGC_DS08057,BMG_DS029893,Langerhans cell sarcoma
BMGC_DS08058,BMG_DS029898,splenic sequestration
BMGC_DS08059,BMG_DS029899,myasthenia gravis
BMGC_DS08060,BMG_DS029905,AVD - Aortic valve disease | Aortic valve disease | Aortic valve disorder | Aortic valve disorder (disorder) | aortic valve disease | aortic valve disorder
BMGC_DS08061,BMG_DS029920,"Anemia, Diamond-Blackfan | Diamond-Blackfan anemia"
BMGC_DS08062,BMG_DS029923,Dysfibrinogenaemia | Dysfibrinogenemia | Dysfibrinogenemia (disorder)
BMGC_DS08063,BMG_DS029925,Haemorrhagic septicaemia due to Pasteurella multocida | Hemorrhagic septicemia due to Pasteurella multocida | Hemorrhagic septicemia due to Pasteurella multocida (disorder) | Infection by Pasteurella multocida | Infection caused by Pasteurella multocida | Infection caused by Pasteurella multocida (disorder) | Pasteurella multocida infectious disease
BMGC_DS08064,BMG_DS029928,Late latent syphilis | Late latent syphilis (disorder) | late latent syphilis
BMGC_DS08065,BMG_DS029929,Proteus pneumonia | Proteus pneumonia (disorder)
BMGC_DS08066,BMG_DS029934,ductal eccrine adenocarcinoma | malignant acrospiroma
BMGC_DS08067,BMG_DS029935,lipoblastoma
BMGC_DS08068,BMG_DS029941,Progeria short stature pigmented nevi | progeria-short stature-pigmented nevi syndrome
BMGC_DS08069,BMG_DS029945,Pontoneocerebellar hypoplasia | Pontoneocerebellar hypoplasia (disorder) | pontocerebellar hypoplasia
BMGC_DS08070,BMG_DS029949,Pelvic inflammatory disease caused by Metamycoplasma hominis | Pelvic inflammatory disease caused by Metamycoplasma hominis (disorder) | Pelvic inflammatory disease caused by Mycoplasma hominis
BMGC_DS08071,BMG_DS029952,(Cystitis NOS) or (trigonitis) | (Cystitis NOS) or (trigonitis) (disorder) | (Trigonitis) or (follicular cystitis) | (Trigonitis) or (follicular cystitis) (disorder) | Cystitis NOS | Follicular cystitis | Trigonitis | Trigonitis (disorder) | trigonitis
BMGC_DS08072,BMG_DS029954,Actinomycetoma | Actinomycotic madura foot | Actinomycotic madura foot (disorder) | Actinomycotic maduromycosis | Actinomycotic mycetema | Actinomycotic mycetoma | Actinomycotic mycetoma (disorder) | Actinomycotic schizomycetoma | Mycetoma
BMGC_DS08073,BMG_DS029956,"Degeneration of macula due to cyst, hole or pseudohole | Degeneration of macula due to cyst, hole or pseudohole (disorder) | Degeneration of macular due to cyst &/or hole &/or pseudohole | Degeneration of macular due to cyst &/or hole &/or pseudohole (disorder) | Degeneration of macular due to cyst, hole or pseudohole | Macular cyst or hole | Macular hole | hole retinal cyst"
BMGC_DS08074,BMG_DS029964,sarcoma
BMGC_DS08075,BMG_DS029967,Bacterial sinusitis | Bacterial sinusitis (disorder)
BMGC_DS08076,BMG_DS029970,Fungal infection of cornea | Fungal keratitis | Fungal keratitis (disorder) | Keratomycosis | Mycotic keratitis | fungal keratitis
BMGC_DS08077,BMG_DS029977,Eosinophilic gastroenteritis | Eosinophilic gastroenteritis (disorder) | Infection by Anisakis larva | Infection by Anisakis larva (disorder) | eosinophilic gastroenteritis
BMGC_DS08078,BMG_DS029982,"Chemical and Drug Induced Liver Injury | Hepatitis, Drug-Induced | drug-induced hepatitis"
BMGC_DS08079,BMG_DS030019,Subacute glomerulonephritis | Subacute glomerulonephritis (disorder) | subacute glomerulonephritis
BMGC_DS08080,BMG_DS030030,Female genital tract infection | Female genital tract infection (disorder)
BMGC_DS08081,BMG_DS030051,attention deficit-hyperactivity disorder
BMGC_DS08082,BMG_DS030060,Peripheral axonal neuropathy | Peripheral axonal neuropathy (disorder) | axonal neuropathy
BMGC_DS08083,BMG_DS030061,"Muscular dystrophy congenital, merosin negative | congenital merosin-deficient muscular dystrophy 1A"
BMGC_DS08084,BMG_DS030079,cerebrum cancer | neoplasm of cerebral hemisphere
BMGC_DS08085,BMG_DS030080,frontal lobe neoplasm
BMGC_DS08086,BMG_DS030081,neoplasm of temporal lobe | temporal lobe neoplasm
BMGC_DS08087,BMG_DS030082,neoplasm of parietal lobe | parietal lobe neoplasm
BMGC_DS08088,BMG_DS030083,occipital lobe neoplasm
BMGC_DS08089,BMG_DS030084,cauda equina neoplasm
BMGC_DS08090,BMG_DS030085,cranial nerve III tumor | oculomotor nerve neoplasm
BMGC_DS08091,BMG_DS030086,trochlear nerve neoplasm
BMGC_DS08092,BMG_DS030087,trigeminal nerve neoplasm
BMGC_DS08093,BMG_DS030088,abducens nerve neoplasm
BMGC_DS08094,BMG_DS030089,facial nerve neoplasm
BMGC_DS08095,BMG_DS030090,glossopharyngeal nerve neoplasm
BMGC_DS08096,BMG_DS030091,vagus nerve neoplasm
BMGC_DS08097,BMG_DS030092,spinal accessory nerve neoplasm
BMGC_DS08098,BMG_DS030093,hypoglossal nerve neoplasm
BMGC_DS08099,BMG_DS030125,Sickle cell-Haemoglobin O Arab disease | Sickle cell-Hemoglobin O Arab disease | Sickle cell-Hemoglobin O Arab disease (disorder)
BMGC_DS08100,BMG_DS030155,"von Willebrand Disease, Type 1 | von Willebrand disease 1 | von Willebrand's disease 1"
BMGC_DS08101,BMG_DS030156,"von Willebrand Disease, Type 2 | von Willebrand disease 2 | von Willebrand's disease 2"
BMGC_DS08102,BMG_DS030157,"von Willebrand Disease, Type 3 | von Willebrand disease 3 | von Willebrand's disease 3"
BMGC_DS08103,BMG_DS030204,large cell neuroendocrine carcinoma | pulmonary large cell neuroendocrine carcinoma
BMGC_DS08104,BMG_DS030205,large cell carcinoma with rhabdoid phenotype
BMGC_DS08105,BMG_DS030206,basaloid squamous cell carcinoma
BMGC_DS08106,BMG_DS030207,non-invasive bladder papillary urothelial neoplasm
BMGC_DS08107,BMG_DS030208,sclerosing hepatic carcinoma
BMGC_DS08108,BMG_DS030209,hepatocellular clear cell carcinoma
BMGC_DS08109,BMG_DS030210,pregnancy adenoma
BMGC_DS08110,BMG_DS030211,anal gland adenocarcinoma
BMGC_DS08111,BMG_DS030215,biliary papillomatosis
BMGC_DS08112,BMG_DS030216,chromophobe renal cell carcinoma
BMGC_DS08113,BMG_DS030217,sarcomatoid renal cell carcinoma
BMGC_DS08114,BMG_DS030218,collecting duct carcinoma
BMGC_DS08115,BMG_DS030219,metanephric adenoma
BMGC_DS08116,BMG_DS030220,atypical follicular adenoma | thyroid gland atypical follicular adenoma
BMGC_DS08117,BMG_DS030222,"endometrial endometrioid adenocarcinoma, secretory variant | secretory uterine corpus endometrioid adenocarcinoma"
BMGC_DS08118,BMG_DS030224,malignant spiradenoma
BMGC_DS08119,BMG_DS030225,eccrine porocarcinoma
BMGC_DS08120,BMG_DS030226,eccrine adenocarcinoma
BMGC_DS08121,BMG_DS030227,pancreatic intraductal papillary-mucinous neoplasm
BMGC_DS08122,BMG_DS030228,pancreatic non-invasive mucinous cystadenocarcinoma
BMGC_DS08123,BMG_DS030229,endocervical type cervical mucinous adenocarcinoma
BMGC_DS08124,BMG_DS030230,acinar cell cystadenocarcinoma | pancreatic acinar cell cystadenocarcinoma
BMGC_DS08125,BMG_DS030232,spindle cell thymoma | thymoma type A
BMGC_DS08126,BMG_DS030233,mixed type thymoma | thymoma type AB
BMGC_DS08127,BMG_DS030234,malignant type AB thymoma
BMGC_DS08128,BMG_DS030235,predominantly cortical thymoma | thymoma type B1
BMGC_DS08129,BMG_DS030236,cortical thymoma | thymoma type B2
BMGC_DS08130,BMG_DS030238,thymic epithelial neoplasm
BMGC_DS08131,BMG_DS030239,glomangiosarcoma | malignant glomus tumor
BMGC_DS08132,BMG_DS030240,diffuse meningeal melanocytosis
BMGC_DS08133,BMG_DS030242,meningeal melanomatosis
BMGC_DS08134,BMG_DS030243,solitary fibrous tumor
BMGC_DS08135,BMG_DS030244,myofibroma
BMGC_DS08136,BMG_DS030246,"histiocytoma, Angiomatoid fibrous"
BMGC_DS08137,BMG_DS030247,ossifying fibromyxoid tumor
BMGC_DS08138,BMG_DS030249,fibroblastic liposarcoma
BMGC_DS08139,BMG_DS030250,chondroid lipoma
BMGC_DS08140,BMG_DS030251,spindle cell rhabdomyosarcoma
BMGC_DS08141,BMG_DS030254,nephrogenic adenofibroma
BMGC_DS08142,BMG_DS030255,pleuropulmonary blastoma
BMGC_DS08143,BMG_DS030257,epithelioid trophoblastic tumor
BMGC_DS08144,BMG_DS030258,high grade surface osteosarcoma
BMGC_DS08145,BMG_DS030259,conventional osteosarcoma
BMGC_DS08146,BMG_DS030260,clear cell chondrosarcoma
BMGC_DS08147,BMG_DS030261,malignant giant cell tumor of the tendon sheath | malignant tenosynovial giant cell tumor
BMGC_DS08148,BMG_DS030262,chondroid chordoma
BMGC_DS08149,BMG_DS030263,parachordoma
BMGC_DS08150,BMG_DS030265,dysembryoplastic neuroepithelial tumor
BMGC_DS08151,BMG_DS030266,gliofibroma
BMGC_DS08152,BMG_DS030267,large cell medulloblastoma
BMGC_DS08153,BMG_DS030268,atypical teratoid rhabdoid tumor
BMGC_DS08154,BMG_DS030269,malignant perineurioma
BMGC_DS08155,BMG_DS030270,"Hodgkin's lymphoma, lymphocytic-histiocytic predominance"
BMGC_DS08156,BMG_DS030289,"Congenital Thrombotic Thrombocytopenic Purpura | Purpura, Thrombotic Thrombocytopenic | congenital thrombotic thrombocytopenic purpura"
BMGC_DS08157,BMG_DS030293,major depressive disorder
BMGC_DS08158,BMG_DS030317,ectopia pupillae
BMGC_DS08159,BMG_DS030318,Pigment dispersion syndrome | Pigment dispersion syndrome (disorder) | pigment dispersion syndrome
BMGC_DS08160,BMG_DS030347,tibial adamantinoma
BMGC_DS08161,BMG_DS030348,Left ventricular diastolic dysfunction | Left ventricular diastolic dysfunction (disorder)
BMGC_DS08162,BMG_DS030354,Infection caused by Penicillium marneffei | Infection caused by Talaromyces marneffei | Infection caused by Talaromyces marneffei (disorder) | Infection due to Penicillium marneffei (disorder) | penicilliosis
BMGC_DS08163,BMG_DS030376,IgA pemphigus | Immunoglobulin A pemphigus | Immunoglobulin A pemphigus (disorder)
BMGC_DS08164,BMG_DS030392,Factitious skin disease | Factitious skin disease (disorder) | neurotic excoriation
BMGC_DS08165,BMG_DS030404,autosomal recessive congenital ichthyosis
BMGC_DS08166,BMG_DS030405,punctate palmoplantar keratoderma
BMGC_DS08167,BMG_DS030413,Chylomicronemia syndrome | Chylomicronemia syndrome (disorder)
BMGC_DS08168,BMG_DS030417,T cell deficiency | T-cell immunodeficiency | T-lymphocyte immunodeficiency | T-lymphocyte immunodeficiency (disorder)
BMGC_DS08169,BMG_DS030474,Recurrent herpes labialis | Recurrent herpes simplex labialis | Recurrent herpes simplex labialis (disorder)
BMGC_DS08170,BMG_DS030476,Recurrent genital herpes simplex | Recurrent genital herpes simplex (disorder) | Recurrent herpes genitalis
BMGC_DS08171,BMG_DS030506,Streptococcal infection of skin | Streptococcal infection of skin (disorder)
BMGC_DS08172,BMG_DS030548,Nocardia Infections | Primary Cutaneous Nocardiosis
BMGC_DS08173,BMG_DS030613,Onychomycosis of toenails | Onychomycosis of toenails (disorder)
BMGC_DS08174,BMG_DS030691,Demodectic blepharitis | Demodectic blepharitis (disorder)
BMGC_DS08175,BMG_DS030774,Central centrifugal cicatricial alopecia | Central centrifugal cicatricial alopecia (disorder) | Hot comb alopecia | central centrifugal cicatricial alopecia
BMGC_DS08176,BMG_DS030799,Hyperhidrosis Palmaris Et Plantaris | hyperhidrosis palmaris ET plantaris
BMGC_DS08177,BMG_DS030839,Ligneous conjunctivitis | Ligneous conjunctivitis (disorder) | ligneous conjunctivitis
BMGC_DS08178,BMG_DS030845,hereditary mucoepithelial dysplasia
BMGC_DS08179,BMG_DS030870,Systemic lupus erythematosus of childhood | Systemic lupus erythematosus of childhood (disorder) | pediatric systemic lupus erythematosus
BMGC_DS08180,BMG_DS030923,Drug-Induced Stevens Johnson Syndrome | Stevens-Johnson Syndrome
BMGC_DS08181,BMG_DS030972,Drug-induced mucositis | Drug-induced mucositis (disorder)
BMGC_DS08182,BMG_DS031016,Acrocephalopolysyndactyly type 2 | Acrocephalopolysyndactyly type II | Acrocephalopolysyndactyly type II (disorder) | Carpenter syndrome
BMGC_DS08183,BMG_DS031017,Sakati syndrome | Sakati-Nyhan syndrome
BMGC_DS08184,BMG_DS031018,Cardio-facio-cutaneous syndrome | Cardio-facio-cutaneous syndrome (disorder) | cardiofaciocutaneous syndrome
BMGC_DS08185,BMG_DS031020,hereditary neurocutaneous angioma
BMGC_DS08186,BMG_DS031023,Dykes Markes Harper syndrome | ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
BMGC_DS08187,BMG_DS031024,"Ichthyosiform erythroderma, corneal involvement, deafness | ichthyosiform erythroderma, corneal involvement, and hearing loss"
BMGC_DS08188,BMG_DS031038,Autosomal dominant familial woolly hair | Autosomal dominant familial wooly hair | Autosomal dominant familial wooly hair (disorder)
BMGC_DS08189,BMG_DS031046,Dystrophic epidermolysis bullosa inverse type | Dystrophic epidermolysis bullosa inverse type (disorder) | recessive dystrophic epidermolysis bullosa inversa
BMGC_DS08190,BMG_DS031047,Epidermolysis Bullosa Pruriginosa | dystrophic epidermolysis bullosa pruriginosa
BMGC_DS08191,BMG_DS031049,Autosomal recessive pseudoxanthoma elasticum | Autosomal recessive pseudoxanthoma elasticum (disorder) | autosomal recessive inherited pseudoxanthoma elasticum
BMGC_DS08192,BMG_DS031051,familial multiple trichoepithelioma
BMGC_DS08193,BMG_DS031054,Familial autosomal dominant periodic fever | TNF receptor-associated periodic fever syndrome | TNF receptor-associated periodic fever syndrome (TRAPS) | TRAPS - TNF receptor-associated periodic fever syndrome | Tumor necrosis factor (TNF) receptor-associated periodic fever syndrome | Tumor necrosis factor receptor-associated periodic fever syndrome | Tumor necrosis factor receptor-associated periodic fever syndrome (disorder) | Tumour necrosis factor (TNF) receptor-associated periodic fever syndrome | Tumour necrosis factor receptor-associated periodic fever syndrome | autosomal dominant familial periodic fever
BMGC_DS08194,BMG_DS031071,vulval Paget disease | vulval Paget's disease
BMGC_DS08195,BMG_DS031072,cutaneous glomangioma | skin glomangioma
BMGC_DS08196,BMG_DS031078,cutaneous undifferentiated pleomorphic sarcoma | malignant skin fibrous histiocytoma
BMGC_DS08197,BMG_DS031080,epithelioid neurofibroma
BMGC_DS08198,BMG_DS031081,Familial Multiple Lipomatosis | familial multiple lipomatosis
BMGC_DS08199,BMG_DS031082,spindle cell liposarcoma
BMGC_DS08200,BMG_DS031084,extraskeletal myxoid chondrosarcoma
BMGC_DS08201,BMG_DS031085,extraskeletal mesenchymal chondrosarcoma
BMGC_DS08202,BMG_DS031134,Funisitis | Funisitis (disorder) | Inflammation of umbilical cord | funisitis
BMGC_DS08203,BMG_DS031135,melanotic medulloblastoma
BMGC_DS08204,BMG_DS031136,MGD-Meibomian gland dysfunction | Meibomian gland dysfunction | Meibomian gland dysfunction (disorder) | Posterior blepharitis
BMGC_DS08205,BMG_DS031137,Avellino corneal dystrophy | Granular corneal dystrophy type II | Granular corneal dystrophy type II (disorder) | Granular-lattice corneal dystrophy | granular corneal dystrophy 2 | granular corneal dystrophy type II
BMGC_DS08206,BMG_DS031139,HZV (herpes zoster virus) keratitis | Herpes zoster keratitis | Herpes zoster keratitis (disorder)
BMGC_DS08207,BMG_DS031143,"CCHS - Congenital central hypoventilation | CCHS - Congenital central hypoventilation (finding) | Congenital central hypoventilation | Congenital central hypoventilation (disorder) | Congenital pulmonary hypoventilation | Ondine curse | Ondine's curse | Primary alveolar hypoventilation | central hypoventilation syndrome, congenital"
BMGC_DS08208,BMG_DS031160,"Arthrogryposis multiplex congenita, pulmonary hypoplasia syndrome | FADS - fetal akinesia deformation sequence | FADS - foetal akinesia deformation sequence | Fetal akinesia-hypokinesia sequence | Foetal akinesia-hypokinesia sequence | Pena-Shokeir syndrome type I | Pena-Shokeir syndrome type I (disorder) | fetal akinesia deformation sequence 1 | fetal akinesia deformation sequence syndrome"
BMGC_DS08209,BMG_DS031175,Impetiginized atopic dermatitis | Impetiginized atopic dermatitis (disorder) | Infected atopic dermatitis
BMGC_DS08210,BMG_DS031228,Erysipelothrix rhusiopathiae infectious disease | Infection caused by Erysipelothrix insidiosa | Infection caused by Erysipelothrix rhusiopathiae | Infection caused by Erysipelothrix rhusiopathiae (disorder) | Infection due to Erysipelothrix rhusiopathiae (disorder)
BMGC_DS08211,BMG_DS031257,Postnatal infection | Postnatal infection (disorder)
BMGC_DS08212,BMG_DS031259,Chlamydial urethritis | Inflammation of urethra caused by Chlamydia | Inflammation of urethra caused by Chlamydia (disorder)
BMGC_DS08213,BMG_DS031262,Cavarre disease | Familial myoplegia | Familial periodic paralysis | Familial periodic paralysis (disorder) | Familial recurrent paralysis | Myoplegic dystrophy | Periodic myotonia | Westphal disease | Westphal disease (disorder)
BMGC_DS08214,BMG_DS031290,Periodic paralysis | Periodic paralysis (finding) | periodic paralysis | periodic paralysis (finding)
BMGC_DS08215,BMG_DS031293,T-B+ severe combined immunodeficiency due to gamma chain deficiency | X-Linked Combined Immunodeficiency Diseases | X-linked severe combined immunodeficiency
BMGC_DS08216,BMG_DS031299,Majocchi's granuloma | Tinea profunda | Tinea profunda (disorder) | tinea profunda
BMGC_DS08217,BMG_DS031304,acute interstitial pneumonia
BMGC_DS08218,BMG_DS031310,Lipoatrophy | Lipoatrophy (disorder)
BMGC_DS08219,BMG_DS031312,Elephantiasis | Podoconiosis | Podoconiosis (disorder) | podoconiosis
BMGC_DS08220,BMG_DS031319,Jumping Frenchmen of Maine
BMGC_DS08221,BMG_DS031322,"Von Willebrand disease, platelet type | platelet-type von Willebrand disease"
BMGC_DS08222,BMG_DS031411,"Ocular Cicatricial Pemphigoid | Pemphigoid, Benign Mucous Membrane | ocular cicatricial pemphigoid"
BMGC_DS08223,BMG_DS031422,metastasis from malignant tumor of colon
BMGC_DS08224,BMG_DS031441,Enthesitis | Enthesitis (disorder) | enthesitis
BMGC_DS08225,BMG_DS031448,"von Willebrand Disease, Type 2 | von Willebrand Disease, Type 2A | von Willebrand disease type 2A"
BMGC_DS08226,BMG_DS031449,"von Willebrand Disease, Type 2 | von Willebrand Disease, Type 2B | von Willebrand disease type 2B"
BMGC_DS08227,BMG_DS031451,von Willebrand disease type 2M | von Willebrand disease type 2M (disorder)
BMGC_DS08228,BMG_DS031452,"von Willebrand Disease, Type 2 | von Willebrand Disease, Type 2N | von Willebrand disease type 2N"
BMGC_DS08229,BMG_DS031464,Lymphocytic gastritis | Lymphocytic gastritis (disorder) | lymphocytic gastritis
BMGC_DS08230,BMG_DS031474,Butyrylcholinesterase deficiency | Cholinesterase deficiency | Plasma cholinesterase deficiency | Pseudocholinesterase deficiency | Pseudocholinesterase deficiency (disorder) | Serum cholinesterase defect | Serum cholinesterase deficiency | Suxamethonium paralysis | butyrylcholinesterase deficiency
BMGC_DS08231,BMG_DS031494,"Sucrase-isomaltase deficiency, congenital | congenital sucrase-isomaltase deficiency"
BMGC_DS08232,BMG_DS031527,Degenerative disorder | Degenerative disorder (disorder) | neurodegenerative disease
BMGC_DS08233,BMG_DS031540,Fetal Nutrition Disorders
BMGC_DS08234,BMG_DS031543,Fetal ascites | Fetal ascites (disorder) | Foetal ascites
BMGC_DS08235,BMG_DS031599,Lesion of ulnar nerve | Lesion of ulnar nerve (disorder) | Ulnar nerve lesion | Ulnar nerve lesion (disorder) | Ulnar neuropathy | Ulnar neuropathy (disorder) | ulnar nerve lesion
BMGC_DS08236,BMG_DS031601,AA amyloidosis | AA amyloidosis (disorder) | Amyloid of familial Mediterranean fever | Amyloidosis due to familial Mediterranean fever | Amyloidosis due to familial Mediterranean fever (disorder) | Benign paroxysmal peritonitis | FMF - Familial Mediterranean fever | Familial Mediterranean fever | Familial Mediterranean fever (disorder) | Familial paroxysmal polyserositis | Familial recurrent polyserositis | MEF - Familial Mediterranean fever | Paroxysmal polyserositis | Periodic disease | Periodic familial peritonitis | Periodic peritonitis | Periodic polyserositis | Recurrent polyserositis
BMGC_DS08237,BMG_DS031662,Arthritis due to bacterial infection | Arthropathy associated with bacterial disease | Arthropathy associated with bacterial disease (disorder) | Bacterial arthritis | Bacterial arthritis (disorder)
BMGC_DS08238,BMG_DS031681,Subacute bursitis | Subacute bursitis (disorder) | subacute bursitis
BMGC_DS08239,BMG_DS031732,sternal neoplasm | sternum cancer
BMGC_DS08240,BMG_DS031751,Nonspecific interstitial pneumonia | Nonspecific interstitial pneumonitis | Nonspecific interstitial pneumonitis (disorder) | non-specific interstitial pneumonia | nonspecific interstitial pneumonia
BMGC_DS08241,BMG_DS031753,epiglottis neoplasm
BMGC_DS08242,BMG_DS031754,hilar lung neoplasm | lung hilum neoplasm
BMGC_DS08243,BMG_DS031755,Acute cardiovascular disease | Acute cardiovascular disorder | Acute disease of cardiovascular system | Acute disease of cardiovascular system (disorder) | Acute disorder of cardiovascular system
BMGC_DS08244,BMG_DS031760,Structural disorder of heart | Structural disorder of heart (disorder)
BMGC_DS08245,BMG_DS031775,endocardium cancer | neoplasm of endocardium
BMGC_DS08246,BMG_DS031776,myocardium cancer | neoplasm of myocardium
BMGC_DS08247,BMG_DS031777,epicardium cancer | neoplasm of epicardium
BMGC_DS08248,BMG_DS031778,vascular cancer
BMGC_DS08249,BMG_DS032021,3-Hydroxyacyl-CoA Dehydrogenase Deficiency | 3-hydroxyacyl-CoA dehydrogenase deficiency
BMGC_DS08250,BMG_DS032036,Cortisone reductase deficiency | cortisone reductase deficiency
BMGC_DS08251,BMG_DS032090,Deficiency of iodide peroxidase | Deficiency of iodide peroxidase (disorder) | Deficiency of iodinase | thyroid dyshormonogenesis 2A
BMGC_DS08252,BMG_DS032120,Transaldolase Deficiency | transaldolase deficiency
BMGC_DS08253,BMG_DS032162,Deficiency of heptulokinase | Deficiency of sedoheptulokinase | Deficiency of sedoheptulokinase (disorder) | isolated sedoheptulokinase deficiency
BMGC_DS08254,BMG_DS032175,D-glyceric aciduria | D-glycericacidemia
BMGC_DS08255,BMG_DS032190,Deficiency of ribose-phosphate pyrophosphokinase | Deficiency of ribose-phosphate pyrophosphokinase (disorder) | Phosphoribosylpyrophosphate synthetase deficiency | phosphoribosylpyrophosphate synthetase deficiency
BMGC_DS08256,BMG_DS032249,Deficiency of choline phosphatase | Deficiency of phosphoserine phosphatase | Deficiency of phosphoserine phosphatase (disorder) | PSPH deficiency
BMGC_DS08257,BMG_DS032275,Hyaluronidase Deficiency | mucopolysaccharidosis type 9
BMGC_DS08258,BMG_DS032297,Beta-Ureidopropionase Deficiency | beta-ureidopropionase deficiency
BMGC_DS08259,BMG_DS032344,Deficiency of phosphoribosylaminoimidazole carboxylase | Deficiency of phosphoribosylaminoimidazole carboxylase (disorder) | phosphoribosylaminoimidazole carboxylase deficiency
BMGC_DS08260,BMG_DS032347,Deficiency of aromatic-L-amino-acid decarboxylase | Deficiency of aromatic-L-amino-acid decarboxylase (disorder) | Deficiency of dopa decarboxylase | Deficiency of hydroxytryptophan decarboxylase | Deficiency of tryptophan decarboxylase | aromatic L-amino acid decarboxylase deficiency
BMGC_DS08261,BMG_DS032389,Deficiency of maleylacetoacetate isomerase | Deficiency of maleylacetoacetate isomerase (disorder) | GSTZ1-gene related deficiency of maleylacetoacetate isomerase | maleylacetoacetate isomerase deficiency
BMGC_DS08262,BMG_DS032391,Ribose 5-Phosphate Isomerase Deficiency | ribose-5-P isomerase deficiency
BMGC_DS08263,BMG_DS032402,Deficiency of bisphosphoglycerate mutase | Deficiency of bisphosphoglycerate mutase (disorder) | Deficiency of bisphosphoglycerate synthase | Deficiency of diphosphoglycerate mutase | Deficiency of glycerate phosphomutase | hemolytic anemia due to diphosphoglycerate mutase deficiency
BMGC_DS08264,BMG_DS032437,primary mediastinal large B-cell lymphoma
BMGC_DS08265,BMG_DS032438,T-lymphoblastic lymphoma
BMGC_DS08266,BMG_DS032440,"atypical chronic myeloid leukemia, BCR-ABL1 negative"
BMGC_DS08267,BMG_DS032441,acute myeloid leukemia with multilineage dysplasia
BMGC_DS08268,BMG_DS032442,acute myeloid leukemia with t(8;21)(q22;q22) translocation
BMGC_DS08269,BMG_DS032443,acute myeloid leukemia with 11q23 abnormalities
BMGC_DS08270,BMG_DS032444,therapy related acute myeloid leukemia and myelodysplastic syndrome
BMGC_DS08271,BMG_DS032445,aggressive NK-cell leukemia
BMGC_DS08272,BMG_DS032446,myeloproliferative neoplasm
BMGC_DS08273,BMG_DS032453,Hyperoxaluria | Oxalosis | Oxalosis (disorder)
BMGC_DS08274,BMG_DS032456,cleft lip and alveolus
BMGC_DS08275,BMG_DS032604,endocervical carcinoma
BMGC_DS08276,BMG_DS032605,exocervical carcinoma
BMGC_DS08277,BMG_DS032606,subglottis carcinoma
BMGC_DS08278,BMG_DS032607,carcinoma of supraglottis
BMGC_DS08279,BMG_DS032608,ovarian cancer
BMGC_DS08280,BMG_DS032610,Coronary Artery Disease | Left Main Coronary Artery Disease
BMGC_DS08281,BMG_DS032638,Early cirrhosis | Early cirrhosis (disorder)
BMGC_DS08282,BMG_DS032650,Postural Orthostatic Tachycardia Syndrome | postural orthostatic tachycardia syndrome
BMGC_DS08283,BMG_DS032661,Extravasation injury | Extravasation injury (disorder)
BMGC_DS08284,BMG_DS032676,Eosinophilic myositis | Eosinophilic myositis (disorder)
BMGC_DS08285,BMG_DS032717,neoplasm with perivascular epithelioid cell differentiation | perivascular epithelioid cell tumor
BMGC_DS08286,BMG_DS032718,Chronic enlargement of lacrimal gland | Chronic enlargement of lacrimal gland (disorder) | Chronic lacrimal gland enlargement | chronic lacrimal gland enlargement
BMGC_DS08287,BMG_DS032724,Genochondromatosis | Genochondromatosis (disorder) | genochondromatosis
BMGC_DS08288,BMG_DS032731,"Thanatophoric dysplasia, type 2 | Thanatophoric dysplasia, type 2 (disorder) | thanatophoric dysplasia type 2"
BMGC_DS08289,BMG_DS032732,"Spondyloepimetaphyseal dysplasia, sponastrime type | spondyloepimetaphyseal dysplasia, sponastrime type"
BMGC_DS08290,BMG_DS032738,Brachydactyly syndrome type C | Brachydactyly syndrome type C (disorder) | brachydactyly type C
BMGC_DS08291,BMG_DS032743,"SAUL-WILSON SYNDROME | Saul-Wilson syndrome | microcephalic osteodysplastic dysplasia, Saul-Wilson type"
BMGC_DS08292,BMG_DS032744,"Transient neonatal hyperparathyroidism | Transient neonatal hyperparathyroidism (disorder) | hyperparathyroidism, transient neonatal"
BMGC_DS08293,BMG_DS032749,atypical polypoid adenomyoma
BMGC_DS08294,BMG_DS032752,prostate small cell carcinoma
BMGC_DS08295,BMG_DS032757,mixed ductal-endocrine carcinoma | mixed ductal-endocrine carcinoma of pancreas
BMGC_DS08296,BMG_DS032764,acantholytic acanthoma
BMGC_DS08297,BMG_DS032766,myelodysplastic/myeloproliferative neoplasm
BMGC_DS08298,BMG_DS032767,acute leukemia of ambiguous lineage
BMGC_DS08299,BMG_DS032769,primary cutaneous anaplastic large cell lymphoma
BMGC_DS08300,BMG_DS032770,CD4+/CD56+ hematodermic neoplasm
BMGC_DS08301,BMG_DS032771,dendritic cell sarcoma
BMGC_DS08302,BMG_DS032772,SM-AHNMD | systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
BMGC_DS08303,BMG_DS032782,Severe visual impairment | Severe visual impairment (disorder)
BMGC_DS08304,BMG_DS032784,Vaccinia keratitis | Vaccinia keratitis (disorder)
BMGC_DS08305,BMG_DS032795,"EPH - Edema, proteinuria and hypertension of pregnancy | EPH - Oedema, proteinuria and hypertension of pregnancy | Gestosis | Hypertension with albuminuria | Hypertension with albuminuria (disorder) | PE - Pre-eclampsia | PET - Pre-eclamptic toxaemia | PET - Pre-eclamptic toxemia | PET - Severe pre-eclamptic toxaemia | PET - Severe pre-eclamptic toxemia | Pre-eclampsia | Pre-eclampsia (disorder) | Pre-eclamptic toxaemia | Pre-eclamptic toxemia | Proteinuric hypertension of pregnancy | Severe pre-eclampsia | Severe pre-eclampsia (disorder) | Severe pre-eclamptic toxaemia | Severe pre-eclamptic toxemia | Severe proteinuric hypertension of pregnancy"
BMGC_DS08306,BMG_DS032821,colorectal adenoma
BMGC_DS08307,BMG_DS032825,prostate squamous cell carcinoma
BMGC_DS08308,BMG_DS032827,chronic lymphocytic leukemia/small lymphocytic lymphoma
BMGC_DS08309,BMG_DS032828,monodermal teratoma | ovarian monodermal teratoma
BMGC_DS08310,BMG_DS032844,"fascial dystrophy, congenital"
BMGC_DS08311,BMG_DS032873,epidermolytic nevus
BMGC_DS08312,BMG_DS032887,congenital fibrosis of extraocular muscles
BMGC_DS08313,BMG_DS032896,congenital microcoria
BMGC_DS08314,BMG_DS032899,Nicolaides Baraitser syndrome | intellectual disability-sparse hair-brachydactyly syndrome
BMGC_DS08315,BMG_DS032905,Acute ST segment elevation myocardial infarction | Acute ST segment elevation myocardial infarction (disorder) | STEMI - ST elevation myocardial infarction
BMGC_DS08316,BMG_DS033048,Idiopathic angio-oedema | Idiopathic angioedema | Idiopathic angioedema (disorder)
BMGC_DS08317,BMG_DS033060,Autoimmune Urticaria | Chronic Urticaria | autoimmune urticaria | chronic urticaria
BMGC_DS08318,BMG_DS033062,Chronic Autoimmune Urticaria | Chronic Urticaria | chronic urticaria
BMGC_DS08319,BMG_DS033105,Familial localised cutaneous amyloidosis | Familial localized cutaneous amyloidosis | Familial localized cutaneous amyloidosis (disorder) | familial primary localized cutaneous amyloidosis
BMGC_DS08320,BMG_DS033124,adamantinoid basal cell epithelioma
BMGC_DS08321,BMG_DS033127,nodular basal cell carcinoma
BMGC_DS08322,BMG_DS033271,Linear and whorled naevoid hypermelanosis | Linear and whorled nevoid hypermelanosis | Linear and whorled nevoid hypermelanosis (disorder) | linear and whorled nevoid hypermelanosis
BMGC_DS08323,BMG_DS033276,spindle cell hemangioma
BMGC_DS08324,BMG_DS033277,subungual glomus tumor
BMGC_DS08325,BMG_DS033278,glomeruloid hemangioma
BMGC_DS08326,BMG_DS033281,Ischaemic fasciitis | Ischemic fasciitis | Ischemic fasciitis (disorder) | Ischemic fasciitis (morphologic abnormality) | ischemic fasciitis
BMGC_DS08327,BMG_DS033289,"Thoracoabdominal aortic aneurysm with rupture | Thoracoabdominal aortic aneurysm, ruptured | Thoracoabdominal aortic aneurysm, ruptured (disorder) | aortic aneurysm"
BMGC_DS08328,BMG_DS033292,infiltrating angiolipoma
BMGC_DS08329,BMG_DS033296,Adenosis - breast | Breast: [fibroadenosis] or [adenosis] | Breast: [fibroadenosis] or [adenosis] (disorder) | Fibroadenosis - breast | Fibroadenosis breast | Fibroadenosis of breast | Fibroadenosis of breast (disorder) | breast fibroadenosis
BMGC_DS08330,BMG_DS033298,Alport's syndrome | Benign familial haematuria | Benign familial hematuria | Familial haematuria | Familial hematuria | Familial hematuria (disorder) | Familial nephritis | GN - Hereditary glomerulonephritis | Hereditary glomerulonephritis | Hereditary nephritis | Hereditary nephritis (disorder) | Non-progressive hereditary glomerulonephritis
BMGC_DS08331,BMG_DS033302,benign mammary dysplasia
BMGC_DS08332,BMG_DS033321,developmental dysplasia of the hip 1
BMGC_DS08333,BMG_DS033324,Oguchi disease | Oguchi's disease | Oguchi's disease (disorder) | congenital stationary night blindness | hereditary night blindness
BMGC_DS08334,BMG_DS033328,ACTH-producing pituitary gland adenoma | ACTH-secreting pituitary adenoma
BMGC_DS08335,BMG_DS033333,melanotic neurilemmoma
BMGC_DS08336,BMG_DS033338,omphalocele | umbilical hernia
BMGC_DS08337,BMG_DS033339,Chronic venous insufficiency | Peripheral venous insufficiency | Peripheral venous insufficiency (disorder) | chronic venous insufficiency
BMGC_DS08338,BMG_DS033341,botryoid rhabdomyosarcoma
BMGC_DS08339,BMG_DS033344,ABS - Acute brain syndrome | Acute brain syndrome | Acute brain syndrome (disorder) | Acute confusional state | Acute encephalopathy | Acute organic reaction | Acute psycho-organic syndrome | Delirium | Delirium (disorder) | OBS - Organic brain syndrome | Organic brain syndrome
BMGC_DS08340,BMG_DS033345,"Congenital dyserythropoietic anaemia, type II | Congenital dyserythropoietic anemia, type II | Congenital dyserythropoietic anemia, type II (disorder) | HEMPAS - hereditary erythroblast multinuclearity with positive acid serum test | Hereditary erythroblast multinuclearity with positive acid serum test | congenital dyserythropoietic anemia type 2 | congenital dyserythropoietic anemia type II"
BMGC_DS08341,BMG_DS033357,Botulism | Wound Botulism | wound botulism
BMGC_DS08342,BMG_DS033362,Self-limiting autoimmune thyroiditis with transient hyperthyroidism and/or hypothyroidism | Self-limiting autoimmune thyroiditis with transient hyperthyroidism and/or hypothyroidism (disorder) | Subacute lymphocytic thyroiditis | Subacute lymphocytic thyroiditis (disorder) | subacute lymphocytic thyroiditis
BMGC_DS08343,BMG_DS033364,Adhesive capsulitis of shoulder | Adhesive capsulitis of shoulder (disorder) | Duplay periarthritis syndrome | Duplay's periarthritis syndrome | Frozen shoulder | Periarthritis of shoulder | Periarthritis of shoulder (disorder) | Pericapsulitis of shoulder | Scapulohumeral fibrositis | Scapulohumeral myofibrosis
BMGC_DS08344,BMG_DS033365,papillary renal cell carcinoma
BMGC_DS08345,BMG_DS033366,Atrophic arthritis | Degenerative arthritis | Degenerative arthropathy | Degenerative joint disease | Degenerative joint disease (disorder) | Degenerative polyarthritis | Hypertrophic arthritis | Hypertrophic polyarthritis | OA - Osteoarthritis | OA - Osteoarthrosis | Osteoarthritis | Osteoarthritis (disorder) | Osteoarthrosis | Proliferative arthritis | Proliferative arthritis (disorder) | RA - Rheumatoid arthritis | RhA - Rheumatoid arthritis | Rheumatic gout | Rheumatoid arthritis | Rheumatoid arthritis (disorder) | Rheumatoid disease
BMGC_DS08346,BMG_DS033375,PAOD - Peripheral arterial occlusive disease | PVD - Peripheral vascular disease | Peripheral angiopathy | Peripheral arterial disease | Peripheral arterial occlusive disease | Peripheral arterial occlusive disease (disorder) | Peripheral artery occlusive disease | Peripheral vascular disease | Peripheral vascular disease (disorder)
BMGC_DS08347,BMG_DS033377,Congenital lymphedema | Congenital lymphoedema | Hereditary edema of legs | Hereditary edema of legs (disorder) | Hereditary oedema of legs | Hereditary trophedema | Hereditary trophoedema | Hereditary trophoedeme | Milroy's disease | Primary (congenital) lymphedema | Primary (congenital) lymphoedema | hereditary lymphedema
BMGC_DS08348,BMG_DS033380,"Trichorrhexis nodosa syndrome | trichothiodystrophy 4, nonphotosensitive"
BMGC_DS08349,BMG_DS033383,Acute contagious conjunctivitis | Acute contagious conjunctivitis (disorder) | Mucopurulent conjunctivitis | Mucopurulent conjunctivitis (disorder) | acute contagious conjunctivitis
BMGC_DS08350,BMG_DS033386,GH - Gestational hypertension | Gestational hypertension | Hypertension complicating childbirth | Hypertension induced by pregnancy | PIH - Pregnancy-induced hypertension | Pregnancy-induced hypertension | Pregnancy-induced hypertension (disorder)
BMGC_DS08351,BMG_DS033388,Generalised pustular psoriasis | Impetigo herpetiformis | Impetigo herpetiformis (disorder) | Pustular psoriasis | Pustular psoriasis (disorder) | impetigo herpetiformis | pustular psoriasis 14
BMGC_DS08352,BMG_DS033398,Necrotising vasculitis | Necrotizing vasculitis | Necrotizing vasculitis (disorder) | necrotizing vasculitis
BMGC_DS08353,BMG_DS033400,acquired polycythemia | secondary polycythemia
BMGC_DS08354,BMG_DS033401,tenosynovial giant cell tumor
BMGC_DS08355,BMG_DS033403,myelodysplastic syndrome with excess blasts-1
BMGC_DS08356,BMG_DS033405,large congenital melanocytic nevus
BMGC_DS08357,BMG_DS033406,ANUG | Acute necrotising ulcerative gingivitis | Acute necrotising ulcerative stomatitis | Acute necrotizing ulcerative gingivitis | Acute necrotizing ulcerative gingivitis (disorder) | Acute necrotizing ulcerative stomatitis | Acute ulcerative gingivitis | Acute ulceromembranous gingivitis | Fusospirochaetal pharyngitis | Fusospirochetal pharyngitis | Fusospirochetal pharyngitis (disorder) | Fusospirochetosis | Spirochaetal stomatitis | Spirochetal stomatitis | Trench mouth | Unspecified bacterial disease | Vincent's angina | Vincent's gingivitis
BMGC_DS08358,BMG_DS033417,Infection caused by Staphylococcus aureus | Infection caused by Staphylococcus aureus (disorder) | Staphylococcus aureus infection | staphylococcus aureus infection
BMGC_DS08359,BMG_DS033442,colorectal adenocarcinoma
BMGC_DS08360,BMG_DS033443,pharyngeal squamous cell carcinoma
BMGC_DS08361,BMG_DS033448,Barber Say syndrome | Barber-Say syndrome
BMGC_DS08362,BMG_DS033453,"Asthma, Aspirin-Induced"
BMGC_DS08363,BMG_DS033476,Infection caused by Enterococcus | Infection caused by Enterococcus (disorder)
BMGC_DS08364,BMG_DS033518,cellular congenital mesoblastic nephroma
BMGC_DS08365,BMG_DS033520,Allergic otitis externa | Allergic otitis externa (disorder)
BMGC_DS08366,BMG_DS033523,Peripheral degeneration of retina | Peripheral retinal degeneration | Peripheral retinal degeneration (disorder) | Retina atrophic | Retina atrophic (disorder) | Retinal atrophy | peripheral retinal degeneration
BMGC_DS08367,BMG_DS033538,Drug-induced Hepatic Necrosis | Massive Hepatic Necrosis
BMGC_DS08368,BMG_DS033551,Paraneoplastic hyponatraemia | Paraneoplastic hyponatremia | Paraneoplastic hyponatremia (disorder)
BMGC_DS08369,BMG_DS033555,mixed germ cell-sex cord neoplasm | mixed germ cell-sex cord-stromal tumor
BMGC_DS08370,BMG_DS033578,epithelioid malignant peripheral nerve sheath tumor
BMGC_DS08371,BMG_DS033589,Behçet disease affecting oral mucosa | Behçet's disease affecting oral mucosa | Behçet's disease affecting oral mucosa (disorder) | Oral ulceration due to Behçet's disease
BMGC_DS08372,BMG_DS033591,Muir-Torre syndrome
BMGC_DS08373,BMG_DS033595,"acromegaloid changes, cutis verticis gyrata, and corneal leukoma"
BMGC_DS08374,BMG_DS033599,22q11 microdeletion with velocardiofacial syndrome phenotype | Marfanoid craniosynostosis syndrome | Shprintzen Goldberg craniosynostosis syndrome | Shprintzen Goldberg craniosynostosis syndrome (disorder) | Shprintzen syndrome | Shprintzen syndrome (disorder) | Shprintzen-Goldberg syndrome | VCF-Velocardiofacial syndrome | Velo-cardio-facial syndrome | Velocardiofacial syndrome
BMGC_DS08375,BMG_DS033604,melanoacanthoma
BMGC_DS08376,BMG_DS033605,melanotic psammomatous malignant peripheral nerve sheath tumor
BMGC_DS08377,BMG_DS033609,"Disorder of pregnancy | Disorder of pregnancy (disorder) | EPH - Edema, proteinuria and hypertension of pregnancy | EPH - Oedema, proteinuria and hypertension of pregnancy | Gestosis | Hypertension with albuminuria | PE - Pre-eclampsia | PET - Pre-eclamptic toxaemia | PET - Pre-eclamptic toxemia | PET - Severe pre-eclamptic toxaemia | PET - Severe pre-eclamptic toxemia | Pre-eclampsia | Pre-eclampsia (disorder) | Pre-eclamptic toxaemia | Pre-eclamptic toxemia | Proteinuric hypertension of pregnancy | Severe pre-eclampsia | Severe pre-eclampsia (disorder) | Severe pre-eclamptic toxaemia | Severe pre-eclamptic toxemia | Severe proteinuric hypertension of pregnancy"
BMGC_DS08378,BMG_DS033611,childhood astrocytic tumor
BMGC_DS08379,BMG_DS033612,childhood intraocular retinoblastoma | pediatric intraocular retinoblastoma
BMGC_DS08380,BMG_DS033613,childhood extraocular retinoblastoma | pediatric extraocular retinoblastoma
BMGC_DS08381,BMG_DS033616,sweat gland cancer
BMGC_DS08382,BMG_DS033619,chordoid glioma | chordoid glioma of the third ventricle
BMGC_DS08383,BMG_DS033622,type C thymoma
BMGC_DS08384,BMG_DS033624,rectosigmoid cancer | rectosigmoid carcinoma
BMGC_DS08385,BMG_DS033625,congenital amegakaryocytic thrombocytopenia
BMGC_DS08386,BMG_DS033626,Revesz syndrome
BMGC_DS08387,BMG_DS033628,IVIC (Instituto Venezolano de Investigaciones Cientificas) syndrome | IVIC syndrome | Oculo-oto-radial syndrome | Oculootoradial syndrome | Oculootoradial syndrome (disorder)
BMGC_DS08388,BMG_DS033629,Myelocerebellar Disorder | ataxia-pancytopenia syndrome
BMGC_DS08389,BMG_DS033630,thymoma type B
BMGC_DS08390,BMG_DS033632,Espundia | Infection by Leishmania braziliensis | Infection caused by Leishmania braziliensis | Infection caused by Leishmania braziliensis (disorder) | Leishmania braziliensis complex | Mucocutaneous infection caused by Leishmania | Mucocutaneous infection caused by Leishmania (disorder) | Mucocutaneous leishmaniasis | Uta | mucocutaneous leishmaniasis
BMGC_DS08391,BMG_DS033635,"NARP syndrome | Neuropathy, Ataxia, and Retinitis Pigmentosa"
BMGC_DS08392,BMG_DS033636,LOC syndrome | LOGIC syndrome | Laryngo-onycho-cutaneous syndrome | Laryngo-onycho-cutaneous syndrome (disorder) | Laryngoonychocutaneous syndrome | Shabbir syndrome | laryngo-onycho-cutaneous syndrome
BMGC_DS08393,BMG_DS033638,breast adenoma
BMGC_DS08394,BMG_DS033641,pancreatic endocrine carcinoma
BMGC_DS08395,BMG_DS033643,castration-resistant prostate carcinoma
BMGC_DS08396,BMG_DS033644,breast tubular carcinoma | invasive tubular breast carcinoma
BMGC_DS08397,BMG_DS033645,Empty follicle syndrome | Empty follicle syndrome (disorder)
BMGC_DS08398,BMG_DS033646,Autoimmune Lymphoproliferative Syndrome | autoimmune lymphoproliferative syndrome | autoimmune lymphoproliferative syndrome type 1
BMGC_DS08399,BMG_DS033651,extrahepatic bile duct adenoma
BMGC_DS08400,BMG_DS033652,intrahepatic bile duct adenoma
BMGC_DS08401,BMG_DS033654,thymic dysplasia
BMGC_DS08402,BMG_DS033657,scrotum melanoma
BMGC_DS08403,BMG_DS033660,ALK-positive anaplastic large cell lymphoma
BMGC_DS08404,BMG_DS033661,neonatal abstinence syndrome
BMGC_DS08405,BMG_DS033662,Achard syndrome
BMGC_DS08406,BMG_DS033663,acinar lung adenocarcinoma | lung acinar adenocarcinoma
BMGC_DS08407,BMG_DS033664,prostatic acinar adenocarcinoma
BMGC_DS08408,BMG_DS033665,Nager acrofacial dysostosis | acrofacial dysostosis
BMGC_DS08409,BMG_DS033666,acute hemorrhagic encephalitis
BMGC_DS08410,BMG_DS033669,adenoid cystic breast carcinoma | breast adenoid cystic carcinoma
BMGC_DS08411,BMG_DS033670,thymic adenosquamous carcinoma | thymus adenosquamous carcinoma
BMGC_DS08412,BMG_DS033672,adrenal gland ganglioneuroblastoma
BMGC_DS08413,BMG_DS033674,adult astrocytic tumor
BMGC_DS08414,BMG_DS033675,adult botryoid rhabdomyosarcoma
BMGC_DS08415,BMG_DS033676,adult brain ependymoma
BMGC_DS08416,BMG_DS033677,adult oligodendroglioma
BMGC_DS08417,BMG_DS033678,adult brainstem astrocytoma
BMGC_DS08418,BMG_DS033679,adult brain stem neoplasm | brain stem cancer
BMGC_DS08419,BMG_DS033680,adult central nervous system immature teratoma
BMGC_DS08420,BMG_DS033681,adult central nervous system mature teratoma
BMGC_DS08421,BMG_DS033682,adult central nervous system mixed germ cell tumor
BMGC_DS08422,BMG_DS033684,adult cerebellar neoplasm
BMGC_DS08423,BMG_DS033685,clear cell sarcoma
BMGC_DS08424,BMG_DS033687,adult leptomeningeal melanoma
BMGC_DS08425,BMG_DS033688,adult lymphoma
BMGC_DS08426,BMG_DS033689,adult mesenchymal chondrosarcoma
BMGC_DS08427,BMG_DS033691,adult pleomorphic rhabdomyosarcoma
BMGC_DS08428,BMG_DS033692,adult spinal cord ependymoma
BMGC_DS08429,BMG_DS033693,adult kidney Wilms tumor | nephroblastoma
BMGC_DS08430,BMG_DS033694,adult xanthogranuloma
BMGC_DS08431,BMG_DS033695,adult endodermal sinus tumor | adult yolk sac tumor
BMGC_DS08432,BMG_DS033696,aflatoxin-related hepatocellular carcinoma | aflatoxins-related hepatocellular carcinoma
BMGC_DS08433,BMG_DS033697,aleukemic monocytic leukemia cutis
BMGC_DS08434,BMG_DS033699,ampulla of Vater adenocarcinoma | ampulla of vater adenocarcinoma
BMGC_DS08435,BMG_DS033700,ampulla of Vater adenosquamous carcinoma | ampulla of vater adenosquamous carcinoma
BMGC_DS08436,BMG_DS033701,ampulla of Vater clear cell adenocarcinoma | ampulla of vater clear cell adenocarcinoma
BMGC_DS08437,BMG_DS033702,ampulla of Vater mucinous adenocarcinoma | ampulla of vater mucinous adenocarcinoma
BMGC_DS08438,BMG_DS033703,ampullary signet ring cell adenocarcinoma
BMGC_DS08439,BMG_DS033704,ampulla of Vater small cell carcinoma | ampulla of vater small cell neuroendocrine carcinoma
BMGC_DS08440,BMG_DS033705,ampulla of Vater squamous cell carcinoma | ampulla of vater squamous cell carcinoma
BMGC_DS08441,BMG_DS033706,anus adenocarcinoma
BMGC_DS08442,BMG_DS033707,anal canal adenocarcinoma
BMGC_DS08443,BMG_DS033708,anal canal Paget disease | anal canal Paget's disease
BMGC_DS08444,BMG_DS033710,Kaposi's sarcoma
BMGC_DS08445,BMG_DS033712,anus leiomyosarcoma
BMGC_DS08446,BMG_DS033713,anus lymphoma
BMGC_DS08447,BMG_DS033714,anal margin basal cell carcinoma
BMGC_DS08448,BMG_DS033715,perianal skin Paget disease | perianal skin Paget's disease
BMGC_DS08449,BMG_DS033716,anal colloid adenocarcinoma | anal mucinous adenocarcinoma
BMGC_DS08450,BMG_DS033717,anal canal neuroendocrine neoplasm | anal neuroendocrine tumor
BMGC_DS08451,BMG_DS033718,anal Paget disease | anal Paget's disease
BMGC_DS08452,BMG_DS033719,anus rhabdomyosarcoma
BMGC_DS08453,BMG_DS033720,anus sarcoma
BMGC_DS08454,BMG_DS033721,anal Buschke-Lowenstein tumor | anal verrucous carcinoma
BMGC_DS08455,BMG_DS033723,anterior cranial fossa meningioma
BMGC_DS08456,BMG_DS033724,anterior foramen magnum meningioma
BMGC_DS08457,BMG_DS033725,anterior optic tract meningioma
BMGC_DS08458,BMG_DS033726,anti-basement membrane glomerulonephritis
BMGC_DS08459,BMG_DS033727,aorta angiosarcoma
BMGC_DS08460,BMG_DS033728,apocrine adenosis of breast
BMGC_DS08461,BMG_DS033729,breast apocrine carcinoma in situ
BMGC_DS08462,BMG_DS033730,breast apocrine carcinoma
BMGC_DS08463,BMG_DS033731,apocrine sweat gland neoplasm
BMGC_DS08464,BMG_DS033733,appendix lymphoma
BMGC_DS08465,BMG_DS033735,asbestos-related lung carcinoma
BMGC_DS08466,BMG_DS033736,malignant mesothelioma
BMGC_DS08467,BMG_DS033738,asymmetric motor neuropathy
BMGC_DS08468,BMG_DS033739,asynchronous multifocal osteogenic sarcoma
BMGC_DS08469,BMG_DS033740,atypical breast papilloma
BMGC_DS08470,BMG_DS033741,autoimmune hepatitis
BMGC_DS08471,BMG_DS033742,autonomic nervous system neoplasm
BMGC_DS08472,BMG_DS033743,Barrett adenocarcinoma | Barrett's adenocarcinoma
BMGC_DS08473,BMG_DS033744,basaloid carcinoma of the penis | penis basaloid carcinoma
BMGC_DS08474,BMG_DS033745,basaloid large cell lung carcinoma | basaloid lung carcinoma
BMGC_DS08475,BMG_DS033746,thymic basaloid carcinoma | thymus basaloid carcinoma
BMGC_DS08476,BMG_DS033748,benign dermal neurilemmoma
BMGC_DS08477,BMG_DS033752,benign mediastinal psammomatous neurilemmoma | mediastinal psammomatous neurilemmoma
BMGC_DS08478,BMG_DS033753,mesenchymal cell neoplasm
BMGC_DS08479,BMG_DS033757,benign perivascular tumor
BMGC_DS08480,BMG_DS033763,bilateral meningioma of optic nerve
BMGC_DS08481,BMG_DS033764,bile duct mucoepidermoid carcinoma | extrahepatic bile duct mucoepidermoid carcinoma
BMGC_DS08482,BMG_DS033765,classic pulmonary blastoma
BMGC_DS08483,BMG_DS033766,bladder clear cell adenocarcinoma
BMGC_DS08484,BMG_DS033769,bladder lymphoma
BMGC_DS08485,BMG_DS033770,bladder signet ring cell adenocarcinoma
BMGC_DS08486,BMG_DS033771,urinary bladder small cell neuroendocrine carcinoma
BMGC_DS08487,BMG_DS033775,bone leiomyosarcoma
BMGC_DS08488,BMG_DS033776,liposarcoma of bone
BMGC_DS08489,BMG_DS033777,bone lymphoma | primary bone lymphoma
BMGC_DS08490,BMG_DS033778,peripheral osteosarcoma
BMGC_DS08491,BMG_DS033780,brachial plexus neoplasm
BMGC_DS08492,BMG_DS033781,brain germinoma
BMGC_DS08493,BMG_DS033782,brain sarcoma
BMGC_DS08494,BMG_DS033783,brain stem astrocytic neoplasm
BMGC_DS08495,BMG_DS033784,brain stem ependymoma
BMGC_DS08496,BMG_DS033785,brain stem angioblastoma | brain stem hemangioblastoma
BMGC_DS08497,BMG_DS033786,brainstem intraparenchymal clear cell meningioma
BMGC_DS08498,BMG_DS033787,breast angiosarcoma
BMGC_DS08499,BMG_DS033788,breast capillary hemangioma
BMGC_DS08500,BMG_DS033789,breast epithelioid hemangioma
BMGC_DS08501,BMG_DS033790,non-proliferative fibrocystic change of the breast
BMGC_DS08502,BMG_DS033792,breast fibrosarcoma
BMGC_DS08503,BMG_DS033793,breast leiomyosarcoma
BMGC_DS08504,BMG_DS033794,breast liposarcoma
BMGC_DS08505,BMG_DS033797,breast rhabdomyosarcoma
BMGC_DS08506,BMG_DS033798,bronchial mucus gland adenoma | lung mucous gland adenoma
BMGC_DS08507,BMG_DS033800,C3 deficiency | Complement component 3 deficiency | Complement component 3 deficiency (disorder) | complement component 3 deficiency
BMGC_DS08508,BMG_DS033802,carcinoma arising in nasal papillomatosis
BMGC_DS08509,BMG_DS033803,heart fibrosarcoma
BMGC_DS08510,BMG_DS033805,Kaposi's sarcoma
BMGC_DS08511,BMG_DS033806,heart leiomyosarcoma
BMGC_DS08512,BMG_DS033807,heart lipoma
BMGC_DS08513,BMG_DS033808,heart lymphoma
BMGC_DS08514,BMG_DS033809,cardiac rhabdomyoma
BMGC_DS08515,BMG_DS033811,cavernous hemangioma of face
BMGC_DS08516,BMG_DS033812,cavernous sinus meningioma
BMGC_DS08517,BMG_DS033813,cecum adenocarcinoma
BMGC_DS08518,BMG_DS033814,cecum lymphoma
BMGC_DS08519,BMG_DS033816,central nervous system angiosarcoma
BMGC_DS08520,BMG_DS033818,central nervous system fibrosarcoma
BMGC_DS08521,BMG_DS033819,central nervous system germ cell tumor
BMGC_DS08522,BMG_DS033820,central nervous system hematologic cancer | central nervous system hematopoietic neoplasm
BMGC_DS08523,BMG_DS033821,central nervous system immature teratoma
BMGC_DS08524,BMG_DS033822,central nervous system leukemia
BMGC_DS08525,BMG_DS033823,central nervous system lipoma
BMGC_DS08526,BMG_DS033824,central nervous system mature teratoma
BMGC_DS08527,BMG_DS033825,central nervous system melanocytic neoplasm
BMGC_DS08528,BMG_DS033826,central nervous system rhabdomyosarcoma
BMGC_DS08529,BMG_DS033827,central nervous system sarcoma
BMGC_DS08530,BMG_DS033829,central nervous system teratoma
BMGC_DS08531,BMG_DS033830,central breast papilloma
BMGC_DS08532,BMG_DS033831,cerebellar angioblastoma | cerebellar hemangioblastoma
BMGC_DS08533,BMG_DS033832,papillary meningioma of the cerebellum
BMGC_DS08534,BMG_DS033836,cerebral hemisphere lipoma
BMGC_DS08535,BMG_DS033837,cervical adenoid cystic carcinoma
BMGC_DS08536,BMG_DS033838,cervical clear cell adenocarcinoma
BMGC_DS08537,BMG_DS033839,cervical endometrioid adenocarcinoma
BMGC_DS08538,BMG_DS033840,cervical spinal canal and spinal cord meningioma
BMGC_DS08539,BMG_DS033841,cervical carcinosarcoma
BMGC_DS08540,BMG_DS033842,cervical mucinous adenocarcinoma
BMGC_DS08541,BMG_DS033844,cervicomedullary junction neoplasm
BMGC_DS08542,BMG_DS033846,chest wall lymphoma
BMGC_DS08543,BMG_DS033847,chest wall parachordoma
BMGC_DS08544,BMG_DS033848,solitary plasmacytoma of chest wall
BMGC_DS08545,BMG_DS033849,childhood botryoid rhabdomyosarcoma
BMGC_DS08546,BMG_DS033850,childhood vagina botryoid rhabdomyosarcoma
BMGC_DS08547,BMG_DS033851,vulvar childhood botryoid-type embryonal rhabdomyosarcoma
BMGC_DS08548,BMG_DS033852,childhood brain germinoma
BMGC_DS08549,BMG_DS033854,childhood brainstem astrocytoma
BMGC_DS08550,BMG_DS033855,childhood brain stem neoplasm
BMGC_DS08551,BMG_DS033856,childhood central nervous system germinoma
BMGC_DS08552,BMG_DS033857,childhood central nervous system immature teratoma
BMGC_DS08553,BMG_DS033858,childhood central nervous system mature teratoma
BMGC_DS08554,BMG_DS033859,childhood central nervous system mixed germ cell tumor
BMGC_DS08555,BMG_DS033861,childhood cerebellar neoplasm
BMGC_DS08556,BMG_DS033864,congenital mesoblastic nephroma
BMGC_DS08557,BMG_DS033865,childhood extraosseous osteosarcoma
BMGC_DS08558,BMG_DS033867,"childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered | pediatric infratentorial ependymoblastoma"
BMGC_DS08559,BMG_DS033868,childhood infratentorial neoplasm
BMGC_DS08560,BMG_DS033869,childhood intracortical osteosarcoma
BMGC_DS08561,BMG_DS033870,childhood leptomeningeal melanoma | pediatric leptomeningeal melanoma
BMGC_DS08562,BMG_DS033871,childhood leukemia
BMGC_DS08563,BMG_DS033872,childhood lymphoma | pediatric lymphoma
BMGC_DS08564,BMG_DS033873,childhood mediastinal neurogenic neoplasm | childhood mediastinal neurogenic tumor
BMGC_DS08565,BMG_DS033874,childhood mesenchymal chondrosarcoma | pediatric mesenchymal chondrosarcoma
BMGC_DS08566,BMG_DS033875,childhood multilocular cystic kidney neoplasm
BMGC_DS08567,BMG_DS033876,childhood myxoid chondrosarcoma | pediatric myxoid chondrosarcoma
BMGC_DS08568,BMG_DS033877,childhood osteosarcoma | pediatric osteosarcoma
BMGC_DS08569,BMG_DS033878,childhood choriocarcinoma of the ovary
BMGC_DS08570,BMG_DS033879,childhood ovarian dysgerminoma | pediatric ovarian dysgerminoma
BMGC_DS08571,BMG_DS033880,childhood ovarian embryonal carcinoma
BMGC_DS08572,BMG_DS033881,childhood immature teratoma of ovary
BMGC_DS08573,BMG_DS033882,childhood mature teratoma of the ovary
BMGC_DS08574,BMG_DS033883,childhood teratoma of the ovary
BMGC_DS08575,BMG_DS033884,childhood ovarian endodermal sinus tumor | childhood ovarian yolk sac tumor
BMGC_DS08576,BMG_DS033885,childhood parosteal osteogenic sarcoma | childhood parosteal osteosarcoma
BMGC_DS08577,BMG_DS033886,childhood pilocytic astrocytoma
BMGC_DS08578,BMG_DS033889,childhood kidney angiomyolipoma
BMGC_DS08579,BMG_DS033890,childhood kidney cell carcinoma
BMGC_DS08580,BMG_DS033891,childhood kidney cancer | childhood kidney neoplasm
BMGC_DS08581,BMG_DS033892,childhood choriocarcinoma of the testis | childhood testicular choriocarcinoma
BMGC_DS08582,BMG_DS033893,childhood embryonal testis carcinoma
BMGC_DS08583,BMG_DS033894,childhood teratocarcinoma of the testis | childhood testicular mixed embryonal carcinoma and teratoma
BMGC_DS08584,BMG_DS033895,childhood testicular mixed germ cell cancer | childhood testicular mixed germ cell tumor
BMGC_DS08585,BMG_DS033896,childhood testicular neoplasm | testicular cancer
BMGC_DS08586,BMG_DS033897,childhood optic tract astrocytoma
BMGC_DS08587,BMG_DS033898,childhood kidney Wilms tumor | nephroblastoma
BMGC_DS08588,BMG_DS033899,childhood endodermal sinus tumor
BMGC_DS08589,BMG_DS033901,choroid epithelioid cell melanoma
BMGC_DS08590,BMG_DS033902,choroid mixed cell melanoma
BMGC_DS08591,BMG_DS033903,choroid necrotic melanoma
BMGC_DS08592,BMG_DS033904,choroid spindle cell melanoma
BMGC_DS08593,BMG_DS033905,chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation | postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
BMGC_DS08594,BMG_DS033906,pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
BMGC_DS08595,BMG_DS033907,chronic metabolic polyneuropathy
BMGC_DS08596,BMG_DS033908,"myeloproliferative neoplasm, unclassifiable"
BMGC_DS08597,BMG_DS033909,chronic toxic polyneuropathy
BMGC_DS08598,BMG_DS033910,ciliary body epithelioid cell melanoma
BMGC_DS08599,BMG_DS033911,ciliary body mixed cell melanoma
BMGC_DS08600,BMG_DS033912,ciliary body spindle cell melanoma
BMGC_DS08601,BMG_DS033913,conventional lipoma
BMGC_DS08602,BMG_DS033914,classic variant of chromophobe renal cell carcinoma
BMGC_DS08603,BMG_DS033915,clear cell-sugar-tumor of the lung | lung clear cell-sugar-tumor
BMGC_DS08604,BMG_DS033916,thymus clear cell carcinoma
BMGC_DS08605,BMG_DS033917,clitoral carcinoma | clitoris cancer
BMGC_DS08606,BMG_DS033918,clivus chordoma
BMGC_DS08607,BMG_DS033919,clivus chondroid chordoma
BMGC_DS08608,BMG_DS033920,clivus meningioma
BMGC_DS08609,BMG_DS033921,rectal cloacogenic carcinoma
BMGC_DS08610,BMG_DS033922,colloid carcinoma of the pancreas
BMGC_DS08611,BMG_DS033923,adenosquamous colon carcinoma
BMGC_DS08612,BMG_DS033926,cavernous hemangioma of colon
BMGC_DS08613,BMG_DS033928,colon Kaposi sarcoma
BMGC_DS08614,BMG_DS033929,colon leiomyoma
BMGC_DS08615,BMG_DS033930,colon leiomyosarcoma
BMGC_DS08616,BMG_DS033931,colonic lymphangioma
BMGC_DS08617,BMG_DS033933,colon neuroendocrine neoplasm
BMGC_DS08618,BMG_DS033934,colon sarcoma
BMGC_DS08619,BMG_DS033935,colon small cell carcinoma | colon small cell neuroendocrine carcinoma
BMGC_DS08620,BMG_DS033936,colon squamous cell carcinoma | squamous cell carcinoma of colon
BMGC_DS08621,BMG_DS033938,colorectal leiomyoma | large bowel leiomyoma
BMGC_DS08622,BMG_DS033939,colorectal lipoma | large intestine lipoma
BMGC_DS08623,BMG_DS033941,columnar cell papillary thyroid carcinoma | columnar cell variant thyroid gland papillary carcinoma
BMGC_DS08624,BMG_DS033942,lung combined large cell neuroendocrine carcinoma
BMGC_DS08625,BMG_DS033944,combined small cell lung carcinoma | lung combined type small cell carcinoma
BMGC_DS08626,BMG_DS033945,breast fibroadenoma
BMGC_DS08627,BMG_DS033946,T cell deficiency | congenital T-cell immunodeficiency
BMGC_DS08628,BMG_DS033947,conjunctival intraepithelial neoplasm
BMGC_DS08629,BMG_DS033948,conus medullaris neoplasm
BMGC_DS08630,BMG_DS033949,conventional angiosarcoma
BMGC_DS08631,BMG_DS033950,conventional fibrosarcoma
BMGC_DS08632,BMG_DS033951,conventional leiomyosarcoma
BMGC_DS08633,BMG_DS033952,conventional malignant hemangiopericytoma
BMGC_DS08634,BMG_DS033953,corneal intraepithelial neoplasm
BMGC_DS08635,BMG_DS033954,corpus callosum lipoma
BMGC_DS08636,BMG_DS033955,cranial nodular fasciitis | cranial pseudosarcomatous fasciitis
BMGC_DS08637,BMG_DS033957,skin lipoma
BMGC_DS08638,BMG_DS033958,cutaneous liposarcoma
BMGC_DS08639,BMG_DS033959,capillary lymphangioma | skin lymphangioma
BMGC_DS08640,BMG_DS033961,deep angioma | deep hemangioma
BMGC_DS08641,BMG_DS033962,deep leiomyoma
BMGC_DS08642,BMG_DS033963,spinal cord dermoid cyst
BMGC_DS08643,BMG_DS033965,diaphragma sellae meningioma
BMGC_DS08644,BMG_DS033966,diencephalic astrocytoma | diencephalic astrocytomas
BMGC_DS08645,BMG_DS033967,diencephalic neoplasm
BMGC_DS08646,BMG_DS033969,DILS - diffuse infiltrative lymphocytosis syndrome | Diffuse infiltrative lymphocytosis syndrome | Diffuse infiltrative lymphocytosis syndrome (disorder) | diffuse infiltrative lymphocytosis syndrome
BMGC_DS08647,BMG_DS033973,diffuse lipomatosis
BMGC_DS08648,BMG_DS033974,peripheral epithelioid sarcoma
BMGC_DS08649,BMG_DS033975,distal biliary tract carcinoma
BMGC_DS08650,BMG_DS033976,duodenal somatostatinoma
BMGC_DS08651,BMG_DS033977,duodenal gastrin-producing neuroendocrine tumor | duodenal gastrinoma
BMGC_DS08652,BMG_DS033980,early invasive cervical adenocarcinoma
BMGC_DS08653,BMG_DS033981,microinvasive cervical squamous cell carcinoma
BMGC_DS08654,BMG_DS033982,eccrine sweat gland neoplasm
BMGC_DS08655,BMG_DS033984,Ectopic thymus | ectopic thymus
BMGC_DS08656,BMG_DS033985,central nervous system embryonal carcinoma | embryonal carcinoma of the central nervous system
BMGC_DS08657,BMG_DS033986,encapsulated thymoma
BMGC_DS08658,BMG_DS033987,endobronchial leiomyoma
BMGC_DS08659,BMG_DS033988,endometrial squamous cell carcinoma
BMGC_DS08660,BMG_DS033989,eosinophilic variant of chromophobe renal cell carcinoma
BMGC_DS08661,BMG_DS033990,ependymal tumor | high grade ependymoma
BMGC_DS08662,BMG_DS033991,epicardium lipoma
BMGC_DS08663,BMG_DS033992,epidermolytic acanthoma
BMGC_DS08664,BMG_DS033994,epidural spinal canal angiolipoma
BMGC_DS08665,BMG_DS033995,epidural spinal canal meningioma
BMGC_DS08666,BMG_DS033996,liver benign neoplasm
BMGC_DS08667,BMG_DS033997,epithelial predominant pulmonary blastoma
BMGC_DS08668,BMG_DS033998,epithelioid cell uveal melanoma | uveal epithelioid cell melanoma
BMGC_DS08669,BMG_DS034000,esophageal adenoid cystic carcinoma
BMGC_DS08670,BMG_DS034001,esophageal basaloid carcinoma | esophageal basaloid squamous cell carcinoma
BMGC_DS08671,BMG_DS034002,esophageal granular cell tumor | malignant granular cell esophageal tumor
BMGC_DS08672,BMG_DS034003,Kaposi's sarcoma
BMGC_DS08673,BMG_DS034004,esophagus leiomyosarcoma
BMGC_DS08674,BMG_DS034006,esophagus liposarcoma
BMGC_DS08675,BMG_DS034007,esophagus lymphoma
BMGC_DS08676,BMG_DS034008,esophageal melanoma | esophagus melanoma
BMGC_DS08677,BMG_DS034009,mucoepidermoid esophageal carcinoma
BMGC_DS08678,BMG_DS034010,esophageal neuroendocrine tumor
BMGC_DS08679,BMG_DS034011,neurofibroma of the esophagus
BMGC_DS08680,BMG_DS034012,esophagus sarcoma
BMGC_DS08681,BMG_DS034014,esophagus verrucous carcinoma
BMGC_DS08682,BMG_DS034015,ethmoid sinus adenocarcinoma
BMGC_DS08683,BMG_DS034016,ethmoid sinus adenoid cystic carcinoma
BMGC_DS08684,BMG_DS034017,ethmoid sinus inverted papilloma
BMGC_DS08685,BMG_DS034018,ethmoid sinus ectopic meningioma
BMGC_DS08686,BMG_DS034019,ethmoid sinus Schneiderian papilloma
BMGC_DS08687,BMG_DS034020,ethmoid sinus squamous cell carcinoma
BMGC_DS08688,BMG_DS034021,Ewing sarcoma of bone | Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
BMGC_DS08689,BMG_DS034023,external ear basal cell carcinoma
BMGC_DS08690,BMG_DS034024,external ear carcinoma
BMGC_DS08691,BMG_DS034025,external ear squamous cell carcinoma
BMGC_DS08692,BMG_DS034026,extracranial neuroblastoma
BMGC_DS08693,BMG_DS034027,extragonadal seminoma
BMGC_DS08694,BMG_DS034028,extrahepatic bile duct cystadenoma
BMGC_DS08695,BMG_DS034029,embryonal extrahepatic bile duct rhabdomyosarcoma
BMGC_DS08696,BMG_DS034031,extrahepatic bile duct leiomyosarcoma
BMGC_DS08697,BMG_DS034032,extrahepatic bile duct lipoma
BMGC_DS08698,BMG_DS034033,extrahepatic bile duct papillary adenoma
BMGC_DS08699,BMG_DS034034,extrahepatic biliary papillomatosis
BMGC_DS08700,BMG_DS034035,extraosseous Ewing sarcoma | extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor
BMGC_DS08701,BMG_DS034036,fallopian tube adenocarcinoma
BMGC_DS08702,BMG_DS034037,fallopian tube clear cell adenocarcinoma
BMGC_DS08703,BMG_DS034038,fallopian tube endometrioid adenocarcinoma
BMGC_DS08704,BMG_DS034039,fallopian tube gestational choriocarcinoma
BMGC_DS08705,BMG_DS034040,fallopian tube papillary adenocarcinoma
BMGC_DS08706,BMG_DS034041,fallopian tube squamous cell carcinoma
BMGC_DS08707,BMG_DS034042,cerebral falx meningioma
BMGC_DS08708,BMG_DS034044,fibrous synovial sarcoma
BMGC_DS08709,BMG_DS034045,flat ductal epithelial atypia
BMGC_DS08710,BMG_DS034049,foramen magnum meningioma
BMGC_DS08711,BMG_DS034050,frontal convexity meningioma
BMGC_DS08712,BMG_DS034051,frontal sinus inverted papilloma
BMGC_DS08713,BMG_DS034052,frontal sinus Schneiderian papilloma
BMGC_DS08714,BMG_DS034053,frontal sinus squamous cell carcinoma
BMGC_DS08715,BMG_DS034054,adenosquamous gallbladder carcinoma | gallbladder adenosquamous carcinoma
BMGC_DS08716,BMG_DS034055,gallbladder angiosarcoma
BMGC_DS08717,BMG_DS034056,Kaposi's sarcoma
BMGC_DS08718,BMG_DS034058,gallbladder leiomyosarcoma
BMGC_DS08719,BMG_DS034060,gallbladder lymphoma
BMGC_DS08720,BMG_DS034061,gallbladder melanoma
BMGC_DS08721,BMG_DS034062,gallbladder mucinous adenocarcinoma | gallbladder mucinous carcinoma
BMGC_DS08722,BMG_DS034063,neurofibroma of gallbladder
BMGC_DS08723,BMG_DS034066,gallbladder rhabdomyosarcoma
BMGC_DS08724,BMG_DS034067,gallbladder sarcoma
BMGC_DS08725,BMG_DS034068,gallbladder signet ring cell adenocarcinoma
BMGC_DS08726,BMG_DS034069,gallbladder small cell carcinoma | gallbladder small cell neuroendocrine carcinoma
BMGC_DS08727,BMG_DS034070,Gasserian ganglion meningioma | gasserian ganglion meningioma
BMGC_DS08728,BMG_DS034071,gastric adenosquamous carcinoma
BMGC_DS08729,BMG_DS034072,gastric cardia adenocarcinoma
BMGC_DS08730,BMG_DS034073,gastric cardia carcinoma
BMGC_DS08731,BMG_DS034074,Cronkhite-Canada syndrome
BMGC_DS08732,BMG_DS034075,gastric gastrin-producing neuroendocrine tumor | gastric gastrinoma
BMGC_DS08733,BMG_DS034076,malignant gastric germ cell tumor
BMGC_DS08734,BMG_DS034078,Kaposi's sarcoma
BMGC_DS08735,BMG_DS034080,gastric liposarcoma
BMGC_DS08736,BMG_DS034083,gastric neuroendocrine neoplasm
BMGC_DS08737,BMG_DS034085,gastric papillary adenocarcinoma
BMGC_DS08738,BMG_DS034086,gastric pylorus carcinoma
BMGC_DS08739,BMG_DS034087,gastric small cell carcinoma | gastric small cell neuroendocrine carcinoma
BMGC_DS08740,BMG_DS034088,gastric squamous cell carcinoma
BMGC_DS08741,BMG_DS034089,gastric teratoma
BMGC_DS08742,BMG_DS034090,gastric tubular adenocarcinoma
BMGC_DS08743,BMG_DS034092,digestive system neuroendocrine neoplasm | gastrointestinal neuroendocrine benign tumor
BMGC_DS08744,BMG_DS034093,central nervous system germinoma
BMGC_DS08745,BMG_DS034094,giant hemangioma
BMGC_DS08746,BMG_DS034095,malignant glandular tumor of peripheral nerve sheath
BMGC_DS08747,BMG_DS034096,glomangiomatosis
BMGC_DS08748,BMG_DS034097,granular cell leiomyosarcoma
BMGC_DS08749,BMG_DS034098,granular cell tumor of the sellar region | neurohypophysis granular cell tumor
BMGC_DS08750,BMG_DS034099,granulomatous endometritis
BMGC_DS08751,BMG_DS034100,"B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma | gray zone lymphoma"
BMGC_DS08752,BMG_DS034105,hepatic angiomyolipoma
BMGC_DS08753,BMG_DS034106,liver fibroma | liver solitary fibrous tumor
BMGC_DS08754,BMG_DS034107,liver fibrosarcoma
BMGC_DS08755,BMG_DS034108,liver inflammatory myofibroblastic tumor | liver inflammatory pseudotumor
BMGC_DS08756,BMG_DS034109,liver leiomyoma
BMGC_DS08757,BMG_DS034110,liver leiomyosarcoma
BMGC_DS08758,BMG_DS034111,liver lipoma
BMGC_DS08759,BMG_DS034113,hepatic osteogenic sarcoma | liver extraskeletal osteosarcoma
BMGC_DS08760,BMG_DS034114,liver rhabdomyosarcoma
BMGC_DS08761,BMG_DS034115,liver and intrahepatic bile duct neoplasm | liver benign neoplasm
BMGC_DS08762,BMG_DS034116,hepatosplenic T-cell lymphoma
BMGC_DS08763,BMG_DS034117,hereditary clear cell renal cell carcinoma | hereditary conventional renal cell carcinoma
BMGC_DS08764,BMG_DS034118,familial glomangioma
BMGC_DS08765,BMG_DS034119,familial meningioma
BMGC_DS08766,BMG_DS034120,hereditary nonpolyposis colon cancer
BMGC_DS08767,BMG_DS034121,Lynch syndrome 2
BMGC_DS08768,BMG_DS034122,familial ovarian carcinoma | familiar ovarian carcinoma
BMGC_DS08769,BMG_DS034123,herpetic gastritis
BMGC_DS08770,BMG_DS034126,histiocytic and dendritic cell cancer | histiocytic and dendritic cell neoplasm
BMGC_DS08771,BMG_DS034129,hypercalcemic sarcoidosis
BMGC_DS08772,BMG_DS034130,hyperimmunoglobulin syndrome
BMGC_DS08773,BMG_DS034132,granulomatous myositis | idiopathic granulomatous myositis
BMGC_DS08774,BMG_DS034133,immature gastric teratoma | malignant gastric teratoma
BMGC_DS08775,BMG_DS034136,inflammatory leiomyosarcoma
BMGC_DS08776,BMG_DS034137,"malignant inflammatory fibrous histiocytoma | undifferentiated pleomorphic sarcoma, inflammatory variant"
BMGC_DS08777,BMG_DS034138,intermediate cell type choroid melanoma
BMGC_DS08778,BMG_DS034139,intermediate cell type ciliary body melanoma
BMGC_DS08779,BMG_DS034140,intermediate cell type iris melanoma | iris mixed cell melanoma
BMGC_DS08780,BMG_DS034142,internal auditory canal meningioma
BMGC_DS08781,BMG_DS034143,intestinal neuroendocrine benign tumor | intestinal neuroendocrine neoplasm
BMGC_DS08782,BMG_DS034144,intracerebral cystic meningioma
BMGC_DS08783,BMG_DS034145,intracranial cavernous angioma
BMGC_DS08784,BMG_DS034146,intracranial chondrosarcoma | intracranial extraskeletal myxoid chondrosarcoma
BMGC_DS08785,BMG_DS034147,intracranial liposarcoma
BMGC_DS08786,BMG_DS034151,intraductal papillary breast neoplasm
BMGC_DS08787,BMG_DS034152,cauda equina intradural extramedullary astrocytoma
BMGC_DS08788,BMG_DS034153,intradural extramedullary spinal canal neoplasm | spinal canal intradural extramedullary neoplasm
BMGC_DS08789,BMG_DS034154,intrahepatic bile duct cystadenoma
BMGC_DS08790,BMG_DS034155,intrahepatic biliary papillomatosis
BMGC_DS08791,BMG_DS034156,spinal cord intramedullary teratoma
BMGC_DS08792,BMG_DS034157,intraorbital meningioma
BMGC_DS08793,BMG_DS034158,intraspinal meningioma | spinal canal and spinal cord meningioma
BMGC_DS08794,BMG_DS034159,intravascular angioleiomyoma
BMGC_DS08795,BMG_DS034160,intraventricular meningioma
BMGC_DS08796,BMG_DS034163,infiltrating bladder urothelial carcinoma | invasive bladder transitional cell carcinoma
BMGC_DS08797,BMG_DS034164,inverted urothelial papilloma | urinary tract papillary transitional cell benign neoplasm
BMGC_DS08798,BMG_DS034165,iris spindle cell melanoma
BMGC_DS08799,BMG_DS034167,jejunal somatostatinoma
BMGC_DS08800,BMG_DS034168,jugular foramen meningioma
BMGC_DS08801,BMG_DS034169,schwannoma of jugular foramen
BMGC_DS08802,BMG_DS034171,Kaposi's sarcoma
BMGC_DS08803,BMG_DS034172,kidney benign neoplasm
BMGC_DS08804,BMG_DS034173,labia majora carcinoma
BMGC_DS08805,BMG_DS034174,labia minora carcinoma
BMGC_DS08806,BMG_DS034175,lacrimal gland carcinoma
BMGC_DS08807,BMG_DS034176,lacrimal gland mucoepidermoid carcinoma
BMGC_DS08808,BMG_DS034178,lacrimal system cancer
BMGC_DS08809,BMG_DS034179,large cell acanthoma
BMGC_DS08810,BMG_DS034180,pulmonary large cell neuroendocrine carcinoma
BMGC_DS08811,BMG_DS034181,thymic large cell neuroendocrine carcinoma | thymus large cell carcinoma
BMGC_DS08812,BMG_DS034182,laryngeal adenoid cystic carcinoma
BMGC_DS08813,BMG_DS034183,laryngeal leiomyoma | larynx leiomyoma
BMGC_DS08814,BMG_DS034184,laryngeal leiomyosarcoma | larynx leiomyosarcoma
BMGC_DS08815,BMG_DS034185,larynx liposarcoma
BMGC_DS08816,BMG_DS034186,laryngeal mucoepidermoid carcinoma
BMGC_DS08817,BMG_DS034187,laryngeal neuroendocrine neoplasm | laryngeal neuroendocrine tumor
BMGC_DS08818,BMG_DS034188,laryngeal sarcoma | larynx sarcoma
BMGC_DS08819,BMG_DS034189,laryngeal small cell carcinoma
BMGC_DS08820,BMG_DS034190,lateral ventricle meningioma
BMGC_DS08821,BMG_DS034193,leptomeningeal melanoma | meningeal melanoma
BMGC_DS08822,BMG_DS034194,Ewing sarcoma of bone
BMGC_DS08823,BMG_DS034195,Ewing sarcoma
BMGC_DS08824,BMG_DS034196,medulloblastoma
BMGC_DS08825,BMG_DS034198,lower clivus meningioma
BMGC_DS08826,BMG_DS034199,lumbar spinal canal and spinal cord meningioma
BMGC_DS08827,BMG_DS034200,lumbar plexus neoplasm
BMGC_DS08828,BMG_DS034202,lung adenoid cystic carcinoma
BMGC_DS08829,BMG_DS034204,hilar lung carcinoma | lung hilum carcinoma
BMGC_DS08830,BMG_DS034205,lung leiomyoma
BMGC_DS08831,BMG_DS034206,lung leiomyosarcoma
BMGC_DS08832,BMG_DS034207,lung meningioma
BMGC_DS08833,BMG_DS034208,lung neuroendocrine neoplasm | pulmonary neuroendocrine tumor
BMGC_DS08834,BMG_DS034210,pulmonary sclerosing hemangioma
BMGC_DS08835,BMG_DS034211,Kaposi's sarcoma
BMGC_DS08836,BMG_DS034212,lymphohistiocytoid mesothelioma
BMGC_DS08837,BMG_DS034213,macrotrabecular hepatoblastoma
BMGC_DS08838,BMG_DS034218,ACTH-producing pituitary gland carcinoma | malignant ACTH producing neoplasm of pituitary gland
BMGC_DS08839,BMG_DS034219,brain cancer
BMGC_DS08840,BMG_DS034220,adult intracranial malignant hemangiopericytoma
BMGC_DS08841,BMG_DS034221,aortic malignant tumor
BMGC_DS08842,BMG_DS034222,apocrine sweat gland cancer
BMGC_DS08843,BMG_DS034223,breast adenomyoepithelioma
BMGC_DS08844,BMG_DS034224,breast malignant eccrine spiradenoma
BMGC_DS08845,BMG_DS034225,malignant cardiac germ cell tumor
BMGC_DS08846,BMG_DS034226,heart malignant hemangiopericytoma
BMGC_DS08847,BMG_DS034227,malignant cardiac peripheral nerve sheath neoplasm
BMGC_DS08848,BMG_DS034229,chest wall bone cancer
BMGC_DS08849,BMG_DS034230,malignant childhood germ cell neoplasm
BMGC_DS08850,BMG_DS034231,malignant cutaneous granular cell skin tumor | malignant granular cell skin tumor
BMGC_DS08851,BMG_DS034232,diencephalic cancer | diencephalic neoplasm
BMGC_DS08852,BMG_DS034233,eccrine sweat gland cancer
BMGC_DS08853,BMG_DS034234,extragonadal germ cell cancer
BMGC_DS08854,BMG_DS034235,extragonadal nonseminomatous germ cell tumor | malignant extragonadal nonseminomatous germ cell tumor
BMGC_DS08855,BMG_DS034237,malignant gastric granular cell tumor
BMGC_DS08856,BMG_DS034238,growth hormone-producing pituitary gland carcinoma | malignant growth hormone secreting neoplasm of pituitary
BMGC_DS08857,BMG_DS034239,malignant leptomeningeal neoplasm | malignant leptomeningeal tumor
BMGC_DS08858,BMG_DS034241,malignant mediastinum hemangiopericytoma
BMGC_DS08859,BMG_DS034243,malignant melanocytic peripheral nerve sheath tumor of mediastinum
BMGC_DS08860,BMG_DS034244,malignant mixed epithelial stromal tumor of the kidney | mixed epithelial stromal tumour
BMGC_DS08861,BMG_DS034245,carcinosarcoma
BMGC_DS08862,BMG_DS034247,perivascular tumor
BMGC_DS08863,BMG_DS034248,malignant pineal area germ cell neoplasm
BMGC_DS08864,BMG_DS034249,prolactin producing pituitary tumor | prolactin-producing pituitary gland carcinoma
BMGC_DS08865,BMG_DS034250,malignant prostate phyllodes tumor | prostate malignant phyllodes tumor
BMGC_DS08866,BMG_DS034251,vascular cancer
BMGC_DS08867,BMG_DS034252,vascular cancer
BMGC_DS08868,BMG_DS034254,skeletal muscle cancer
BMGC_DS08869,BMG_DS034255,smooth muscle cancer
BMGC_DS08870,BMG_DS034256,synovium cancer
BMGC_DS08871,BMG_DS034257,testicular non-seminomatous germ cell cancer
BMGC_DS08872,BMG_DS034258,malignant thyroid stimulating hormone producing neoplasm of pituitary gland
BMGC_DS08873,BMG_DS034259,uterine body mixed cancer
BMGC_DS08874,BMG_DS034260,vascular cancer
BMGC_DS08875,BMG_DS034261,breast intraductal proliferative lesion
BMGC_DS08876,BMG_DS034262,mature B-cell neoplasm | neoplasm of mature B-cells
BMGC_DS08877,BMG_DS034263,mature gastric teratoma
BMGC_DS08878,BMG_DS034264,mature ovarian teratoma | mature teratoma of the ovary
BMGC_DS08879,BMG_DS034267,maxillary sinus adenocarcinoma
BMGC_DS08880,BMG_DS034268,maxillary sinus adenoid cystic carcinoma
BMGC_DS08881,BMG_DS034269,maxillary sinus cholesteatoma
BMGC_DS08882,BMG_DS034270,maxillary sinus inverted papilloma
BMGC_DS08883,BMG_DS034271,maxillary sinus Schneiderian papilloma
BMGC_DS08884,BMG_DS034272,maxillary sinus squamous cell carcinoma
BMGC_DS08885,BMG_DS034273,mediastinum angiosarcoma
BMGC_DS08886,BMG_DS034274,mediastinum ganglioneuroblastoma
BMGC_DS08887,BMG_DS034275,mediastinal germ cell tumor
BMGC_DS08888,BMG_DS034276,mediastinal granular cell myoblastoma
BMGC_DS08889,BMG_DS034277,mediastinal gray zone lymphoma
BMGC_DS08890,BMG_DS034279,mediastinum leiomyosarcoma
BMGC_DS08891,BMG_DS034280,mediastinal lipomatosis
BMGC_DS08892,BMG_DS034281,mediastinum liposarcoma
BMGC_DS08893,BMG_DS034282,mediastinal malignant lymphoma
BMGC_DS08894,BMG_DS034283,mediastinal melanocytic neurilemmoma
BMGC_DS08895,BMG_DS034284,mediastinal mesenchymal tumor
BMGC_DS08896,BMG_DS034285,malignant mediastinal neurogenic neoplasm | mediastinal neural neoplasm
BMGC_DS08897,BMG_DS034286,mediastinum neuroblastoma
BMGC_DS08898,BMG_DS034287,mediastinum neurofibroma
BMGC_DS08899,BMG_DS034288,mediastinal extraskeletal osteosarcoma | mediastinal osteogenic sarcoma
BMGC_DS08900,BMG_DS034289,mediastinum rhabdomyosarcoma
BMGC_DS08901,BMG_DS034290,mediastinum sarcoma
BMGC_DS08902,BMG_DS034291,mediastinal neurilemmoma | mediastinal schwannoma
BMGC_DS08903,BMG_DS034292,mediastinum seminoma
BMGC_DS08904,BMG_DS034293,mediastinum synovial sarcoma
BMGC_DS08905,BMG_DS034294,mediastinum teratoma
BMGC_DS08906,BMG_DS034296,melanomatosis
BMGC_DS08907,BMG_DS034297,meningioma | supratentorial meningioma
BMGC_DS08908,BMG_DS034298,mesenchymal cell neoplasm
BMGC_DS08909,BMG_DS034299,metachronous osteosarcoma of the bone
BMGC_DS08910,BMG_DS034300,metachronous kidney Wilms' tumor
BMGC_DS08911,BMG_DS034301,breast metaplastic carcinoma | metaplastic breast carcinoma
BMGC_DS08912,BMG_DS034302,adrenal medulla carcinoma | metastatic carcinoma in the adrenal medulla
BMGC_DS08913,BMG_DS034303,methotrexate-associated lymphoproliferation | methotrexate-associated lymphoproliferative disorders
BMGC_DS08914,BMG_DS034304,microglandular adenosis of breast
BMGC_DS08915,BMG_DS034305,middle cranial fossa meningioma
BMGC_DS08916,BMG_DS034306,middle ear adenocarcinoma
BMGC_DS08917,BMG_DS034308,middle ear carcinoma
BMGC_DS08918,BMG_DS034309,middle ear squamous cell carcinoma
BMGC_DS08919,BMG_DS034313,mixed cell uveal melanoma
BMGC_DS08920,BMG_DS034314,mixed hepatoblastoma
BMGC_DS08921,BMG_DS034316,lung mixed small cell and squamous cell carcinoma
BMGC_DS08922,BMG_DS034317,monophasic synovial sarcoma
BMGC_DS08923,BMG_DS034318,breast mucinous carcinoma
BMGC_DS08924,BMG_DS034319,mucinous gastric adenocarcinoma | mucinous stomach adenocarcinoma
BMGC_DS08925,BMG_DS034321,breast mucoepidermoid carcinoma | mucoepidermoid breast carcinoma
BMGC_DS08926,BMG_DS034322,thymic mucoepidermoid carcinoma | thymus mucoepidermoid carcinoma
BMGC_DS08927,BMG_DS034323,multicentric Castleman disease
BMGC_DS08928,BMG_DS034324,multicentric papillary thyroid carcinoma
BMGC_DS08929,BMG_DS034326,multifocal osteogenic sarcoma
BMGC_DS08930,BMG_DS034327,multiple spinal canal and spinal cord meningioma
BMGC_DS08931,BMG_DS034328,multiple mucosal neuroma
BMGC_DS08932,BMG_DS034329,multiple skull base meningioma
BMGC_DS08933,BMG_DS034330,nasal cavity adenocarcinoma
BMGC_DS08934,BMG_DS034331,nasal cavity lymphoma
BMGC_DS08935,BMG_DS034332,nasal cavity olfactory neuroblastoma
BMGC_DS08936,BMG_DS034334,head and neck carcinoma
BMGC_DS08937,BMG_DS034336,nerve plexus neoplasm
BMGC_DS08938,BMG_DS034337,nerve root neoplasm
BMGC_DS08939,BMG_DS034339,nervous system cancer
BMGC_DS08940,BMG_DS034340,posterior pituitary gland neoplasm
BMGC_DS08941,BMG_DS034341,nipple carcinoma
BMGC_DS08942,BMG_DS034342,nipple duct carcinoma
BMGC_DS08943,BMG_DS034345,desmoplastic/nodular medulloblastoma | medulloblastoma with extensive nodularity
BMGC_DS08944,BMG_DS034347,non-functional pancreatic neuroendocrine tumor | non-functioning pancreatic endocrine tumor
BMGC_DS08945,BMG_DS034348,non-invasive verrucous carcinoma of the penis | penis non-invasive verrucous carcinoma
BMGC_DS08946,BMG_DS034349,peripheral nervous system disease
BMGC_DS08947,BMG_DS034350,reproductive system disease
BMGC_DS08948,BMG_DS034351,urinary system disease
BMGC_DS08949,BMG_DS034353,lung adenocarcinoma
BMGC_DS08950,BMG_DS034354,non specific chronic endometritis
BMGC_DS08951,BMG_DS034355,nonanaplastic kidney Wilms tumor | renal Wilms' tumor
BMGC_DS08952,BMG_DS034356,non-ossifying fibromyxoid tumor | nonossifying fibromyxoid tumor
BMGC_DS08953,BMG_DS034357,notochordal cancer | notochordal tumor
BMGC_DS08954,BMG_DS034358,lung occult large cell carcinoma
BMGC_DS08955,BMG_DS034359,lung occult adenocarcinoma
BMGC_DS08956,BMG_DS034360,lung occult small cell carcinoma | occult small cell lung carcinoma
BMGC_DS08957,BMG_DS034361,lung occult squamous cell carcinoma
BMGC_DS08958,BMG_DS034362,olfactory groove meningioma
BMGC_DS08959,BMG_DS034364,optic nerve astrocytoma
BMGC_DS08960,BMG_DS034365,orbit alveolar rhabdomyosarcoma
BMGC_DS08961,BMG_DS034366,orbit embryonal rhabdomyosarcoma
BMGC_DS08962,BMG_DS034367,hemangioma of orbit
BMGC_DS08963,BMG_DS034368,orbit sarcoma
BMGC_DS08964,BMG_DS034371,breast extraskeletal osteosarcoma | breast osteosarcoma
BMGC_DS08965,BMG_DS034373,ovarian angiosarcoma
BMGC_DS08966,BMG_DS034374,ovarian cystic teratoma
BMGC_DS08967,BMG_DS034376,ovarian endometrial cancer
BMGC_DS08968,BMG_DS034377,ovary leiomyosarcoma
BMGC_DS08969,BMG_DS034378,liposarcoma of the ovary
BMGC_DS08970,BMG_DS034379,ovarian mucinous adenocarcinoma
BMGC_DS08971,BMG_DS034380,ovarian mucinous neoplasm
BMGC_DS08972,BMG_DS034381,ovarian adenosarcoma | ovarian mesodermal adenosarcoma
BMGC_DS08973,BMG_DS034382,myxoid liposarcoma of the ovary | ovarian myxoid liposarcoma
BMGC_DS08974,BMG_DS034383,ovarian neuroendocrine neoplasm | ovary neuroendocrine neoplasm
BMGC_DS08975,BMG_DS034384,ovarian large-cell neuroendocrine carcinoma
BMGC_DS08976,BMG_DS034385,ovarian papillary cystadenoma
BMGC_DS08977,BMG_DS034386,ovary rhabdomyosarcoma
BMGC_DS08978,BMG_DS034387,ovarian serous adenocarcinoma | ovary serous adenocarcinoma
BMGC_DS08979,BMG_DS034388,ovarian serous surface papillary adenocarcinoma | ovary papillary carcinoma
BMGC_DS08980,BMG_DS034389,ovarian solid teratoma
BMGC_DS08981,BMG_DS034390,ovarian surface papilloma
BMGC_DS08982,BMG_DS034391,ovarian transitional cell carcinoma | ovary transitional cell carcinoma
BMGC_DS08983,BMG_DS034393,pancreatic adenosquamous carcinoma
BMGC_DS08984,BMG_DS034394,pancreatic ACTH hormone producing tumor | pancreatic ACTH-producing neuroendocrine tumor
BMGC_DS08985,BMG_DS034395,pancreatic delta cell neoplasm | pancreatic delta cell neuroendocrine tumor
BMGC_DS08986,BMG_DS034396,pancreatic ductal adenocarcinoma
BMGC_DS08987,BMG_DS034397,pancreatic foamy gland adenocarcinoma
BMGC_DS08988,BMG_DS034398,pancreatic intraductal papillary-colloid carcinoma | pancreatic intraductal papillary-mucinous carcinoma
BMGC_DS08989,BMG_DS034399,pancreas lymphoma
BMGC_DS08990,BMG_DS034400,pancreatic colloid cystadenoma | pancreatic mucinous cystadenoma
BMGC_DS08991,BMG_DS034401,pancreatic mucinous ductal ectasia
BMGC_DS08992,BMG_DS034402,pancreatic non-functioning delta cell tumor
BMGC_DS08993,BMG_DS034403,pancreatic serous cystadenocarcinoma
BMGC_DS08994,BMG_DS034404,pancreatic serous cystadenoma
BMGC_DS08995,BMG_DS034405,pancreatic signet ring cell adenocarcinoma
BMGC_DS08996,BMG_DS034406,papillary carcinoma of the penis | penis papillary carcinoma
BMGC_DS08997,BMG_DS034408,lung papillary adenocarcinoma | papillary lung adenocarcinoma
BMGC_DS08998,BMG_DS034409,papillary thymic adenocarcinoma
BMGC_DS08999,BMG_DS034411,papillary urothelial neoplasm | urinary tract papillary transitional cell benign neoplasm
BMGC_DS09000,BMG_DS034412,paranasal sinus cancer
BMGC_DS09001,BMG_DS034413,paranasal sinus adenoid cystic carcinoma | paranasal sinus cancer
BMGC_DS09002,BMG_DS034414,paranasal sinus lymphoma
BMGC_DS09003,BMG_DS034415,paranasal sinus cancer | paranasal sinus mucoepidermoid carcinoma
BMGC_DS09004,BMG_DS034416,paranasal sinus sarcoma
BMGC_DS09005,BMG_DS034418,paratesticular lipoma
BMGC_DS09006,BMG_DS034420,parathyroid oncocytic adenoma
BMGC_DS09007,BMG_DS034421,Skene gland carcinoma
BMGC_DS09008,BMG_DS034427,Kaposi's sarcoma
BMGC_DS09009,BMG_DS034428,periampullary adenocarcinoma
BMGC_DS09010,BMG_DS034430,malignant pericardial mesothelioma | pericardial mesothelioma
BMGC_DS09011,BMG_DS034432,periocular meningioma
BMGC_DS09012,BMG_DS034433,peripheral ganglioneuroblastoma | peripheral nervous system ganglioneuroblastoma
BMGC_DS09013,BMG_DS034434,microscopic breast papilloma
BMGC_DS09014,BMG_DS034435,pericytic neoplasm | perivascular tumor
BMGC_DS09015,BMG_DS034436,petroclival meningioma
BMGC_DS09016,BMG_DS034437,petrous apex meningioma
BMGC_DS09017,BMG_DS034442,pineal region choriocarcinoma
BMGC_DS09018,BMG_DS034443,pineal dysgerminoma | pineal region dysgerminoma
BMGC_DS09019,BMG_DS034444,pineal region immature teratoma
BMGC_DS09020,BMG_DS034445,pineal region mature teratoma
BMGC_DS09021,BMG_DS034446,pineal region meningioma
BMGC_DS09022,BMG_DS034447,pineal region teratoma
BMGC_DS09023,BMG_DS034448,pineal region yolk sac tumor
BMGC_DS09024,BMG_DS034449,pituitary stalk meningioma
BMGC_DS09025,BMG_DS034450,placenta disease
BMGC_DS09026,BMG_DS034452,neurilemmoma of the pleura
BMGC_DS09027,BMG_DS034453,plexopathy
BMGC_DS09028,BMG_DS034454,posterior foramen magnum meningioma
BMGC_DS09029,BMG_DS034455,acute lymphoblastic leukemia | precursor lymphoblastic lymphoma/leukemia
BMGC_DS09030,BMG_DS034457,chondrosarcoma
BMGC_DS09031,BMG_DS034459,primary skin meningioma | skin meningioma
BMGC_DS09032,BMG_DS034461,lung meningioma
BMGC_DS09033,BMG_DS034462,prostate adenoid cystic carcinoma
BMGC_DS09034,BMG_DS034463,adenosquamous prostate carcinoma
BMGC_DS09035,BMG_DS034464,prostate angiosarcoma
BMGC_DS09036,BMG_DS034465,prostate embryonal rhabdomyosarcoma
BMGC_DS09037,BMG_DS034466,Kaposi's sarcoma
BMGC_DS09038,BMG_DS034468,prostate leiomyosarcoma
BMGC_DS09039,BMG_DS034469,prostate lymphoma
BMGC_DS09040,BMG_DS034470,acinar prostate mucinous adenocarcinoma | prostate colloid adenocarcinoma
BMGC_DS09041,BMG_DS034471,prostate neuroendocrine neoplasm
BMGC_DS09042,BMG_DS034472,prostate rhabdomyosarcoma
BMGC_DS09043,BMG_DS034473,prostate signet ring cell adenocarcinoma
BMGC_DS09044,BMG_DS034474,prostate stromal sarcoma
BMGC_DS09045,BMG_DS034475,central epithelioid sarcoma | proximal-type epithelioid sarcoma
BMGC_DS09046,BMG_DS034477,pulmonary artery leiomyosarcoma
BMGC_DS09047,BMG_DS034478,Pancoast tumor | pulmonary sulcus neoplasm
BMGC_DS09048,BMG_DS034479,pulmonary vein leiomyosarcoma
BMGC_DS09049,BMG_DS034480,reactive cutaneous fibrous lesion
BMGC_DS09050,BMG_DS034483,rectum Kaposi sarcoma | rectum Kaposi's sarcoma
BMGC_DS09051,BMG_DS034484,rectal leiomyoma | rectum leiomyoma
BMGC_DS09052,BMG_DS034485,rectum leiomyosarcoma
BMGC_DS09053,BMG_DS034486,lipoma of the rectum | rectal lipoma
BMGC_DS09054,BMG_DS034487,rectum lymphoma
BMGC_DS09055,BMG_DS034488,rectum neuroendocrine neoplasm
BMGC_DS09056,BMG_DS034489,rectum rhabdomyosarcoma
BMGC_DS09057,BMG_DS034490,rectum sarcoma
BMGC_DS09058,BMG_DS034491,rectal sarcomatoid carcinoma | rectum sarcomatoid carcinoma
BMGC_DS09059,BMG_DS034492,rectum squamous cell carcinoma | squamous cell carcinoma of rectum
BMGC_DS09060,BMG_DS034494,refractory hematologic cancer
BMGC_DS09061,BMG_DS034495,kidney leiomyosarcoma
BMGC_DS09062,BMG_DS034496,kidney lipoma
BMGC_DS09063,BMG_DS034497,kidney liposarcoma
BMGC_DS09064,BMG_DS034498,kidney osteogenic sarcoma
BMGC_DS09065,BMG_DS034499,renal pelvis adenocarcinoma
BMGC_DS09066,BMG_DS034500,renal pelvis carcinoma
BMGC_DS09067,BMG_DS034501,renal pelvis inverted papilloma
BMGC_DS09068,BMG_DS034502,kidney pelvis sarcomatoid transitional cell carcinoma
BMGC_DS09069,BMG_DS034503,vascular cancer
BMGC_DS09070,BMG_DS034504,retinal cell cancer | retinal cell neoplasm
BMGC_DS09071,BMG_DS034505,retroperitoneal germ cell neoplasm
BMGC_DS09072,BMG_DS034506,retroperitoneal hemangiopericytoma
BMGC_DS09073,BMG_DS034507,retroperitoneal lymphoma
BMGC_DS09074,BMG_DS034508,sacral spinal canal and spinal cord meningioma
BMGC_DS09075,BMG_DS034512,sarcomatoid penile squamous cell carcinoma
BMGC_DS09076,BMG_DS034513,thymic sarcomatoid carcinoma | thymus sarcomatoid carcinoma
BMGC_DS09077,BMG_DS034514,schwannoma of twelfth cranial nerve
BMGC_DS09078,BMG_DS034515,schwannomatosis
BMGC_DS09079,BMG_DS034516,sclerosing adenosis of breast
BMGC_DS09080,BMG_DS034517,sclerosing breast papilloma
BMGC_DS09081,BMG_DS034518,scrotum basal cell carcinoma
BMGC_DS09082,BMG_DS034519,scrotal angioma | scrotal hemangioma
BMGC_DS09083,BMG_DS034520,selective immunoglobulin deficiency disease
BMGC_DS09084,BMG_DS034522,breast signet ring cell adenocarcinoma | signet ring cell breast carcinoma
BMGC_DS09085,BMG_DS034523,gastric signet ring cell adenocarcinoma | signet ring cell gastric adenocarcinoma
BMGC_DS09086,BMG_DS034524,skeletal muscle neoplasm
BMGC_DS09087,BMG_DS034525,basaloid squamous cell skin carcinoma | skin basaloid carcinoma
BMGC_DS09088,BMG_DS034526,pseudovascular skin squamous cell carcinoma
BMGC_DS09089,BMG_DS034527,skull base chordoma
BMGC_DS09090,BMG_DS034528,skull base meningioma
BMGC_DS09091,BMG_DS034529,extrahepatic bile duct small cell adenocarcinoma
BMGC_DS09092,BMG_DS034530,thymus small cell carcinoma
BMGC_DS09093,BMG_DS034534,small bowel fibrosarcoma | small intestinal fibrosarcoma
BMGC_DS09094,BMG_DS034537,small intestine neuroendocrine neoplasm
BMGC_DS09095,BMG_DS034538,small intestinal sarcoma
BMGC_DS09096,BMG_DS034539,small intestinal vasoactive intestinal peptide producing tumor
BMGC_DS09097,BMG_DS034540,fibrosarcoma
BMGC_DS09098,BMG_DS034541,breast papillary carcinoma | solid papillary breast carcinoma
BMGC_DS09099,BMG_DS034542,pancreatic solid pseudopapillary carcinoma | solid pseudopapillary carcinoma of pancreas
BMGC_DS09100,BMG_DS034544,sphenocavernous meningioma
BMGC_DS09101,BMG_DS034545,sphenoid sinus inverted papilloma
BMGC_DS09102,BMG_DS034546,sphenoid sinus Schneiderian papilloma
BMGC_DS09103,BMG_DS034547,sphenoid sinus squamous cell carcinoma
BMGC_DS09104,BMG_DS034548,sphenoorbital meningioma
BMGC_DS09105,BMG_DS034549,spinal cord lymphoma
BMGC_DS09106,BMG_DS034550,spinal cord melanoma
BMGC_DS09107,BMG_DS034551,spinal cord neuroblastoma
BMGC_DS09108,BMG_DS034552,neurofibroma of spinal cord
BMGC_DS09109,BMG_DS034553,spinal cord primitive neuroectodermal neoplasm | spinal cord primitive neuroectodermal tumor
BMGC_DS09110,BMG_DS034554,spinal cord sarcoma
BMGC_DS09111,BMG_DS034555,spinal multifocal clear cell meningioma
BMGC_DS09112,BMG_DS034557,splenic manifestation of hairy cell leukemia
BMGC_DS09113,BMG_DS034558,splenic manifestation of leukemia
BMGC_DS09114,BMG_DS034559,splenic manifestation of prolymphocytic leukemia
BMGC_DS09115,BMG_DS034560,sporadic breast cancer
BMGC_DS09116,BMG_DS034561,papillary renal cell carcinoma
BMGC_DS09117,BMG_DS034562,breast squamous cell carcinoma | squamous cell breast carcinoma
BMGC_DS09118,BMG_DS034563,penis squamous cell carcinoma
BMGC_DS09119,BMG_DS034564,thymus squamous cell carcinoma
BMGC_DS09120,BMG_DS034566,intratubular embryonal carcinoma
BMGC_DS09121,BMG_DS034567,Jewett-Marshall bladder cancer | stage IVb bladder cancer
BMGC_DS09122,BMG_DS034568,sternum lymphoma
BMGC_DS09123,BMG_DS034569,steroid lipomatosis
BMGC_DS09124,BMG_DS034574,superficial urinary bladder cancer | superficial urinary bladder carcinoma
BMGC_DS09125,BMG_DS034575,lung superior sulcus carcinoma
BMGC_DS09126,BMG_DS034576,superior vena cava angiosarcoma
BMGC_DS09127,BMG_DS034577,superior vena cava leiomyosarcoma
BMGC_DS09128,BMG_DS034578,suprasellar meningioma
BMGC_DS09129,BMG_DS034580,supratentorial primitive neuroectodermal tumor
BMGC_DS09130,BMG_DS034581,sympathetic neurilemmoma
BMGC_DS09131,BMG_DS034582,synchronous multifocal osteogenic sarcoma
BMGC_DS09132,BMG_DS034583,synovial angioma
BMGC_DS09133,BMG_DS034585,tall cell papillary thyroid carcinoma | tall cell variant thyroid gland papillary carcinoma
BMGC_DS09134,BMG_DS034586,telangiectatic glomangioma
BMGC_DS09135,BMG_DS034587,tendon sheath lipoma
BMGC_DS09136,BMG_DS034588,testicular germ cell cancer | testicular germ cell tumor
BMGC_DS09137,BMG_DS034589,testicular granulosa cell tumor
BMGC_DS09138,BMG_DS034590,testicular leukemia
BMGC_DS09139,BMG_DS034591,mixed testicular germ cell cancer | mixed testicular germ cell tumor
BMGC_DS09140,BMG_DS034592,testis rhabdomyosarcoma
BMGC_DS09141,BMG_DS034593,testis sarcoma
BMGC_DS09142,BMG_DS034594,thalamic neoplasm
BMGC_DS09143,BMG_DS034595,thoracic spinal canal and spinal cord meningioma
BMGC_DS09144,BMG_DS034596,thymus adenocarcinoma | thymus gland adenocarcinoma
BMGC_DS09145,BMG_DS034598,thymus lymphoma
BMGC_DS09146,BMG_DS034599,thyroid angiosarcoma | thyroid gland angiosarcoma
BMGC_DS09147,BMG_DS034601,thyroid Hurthle cell adenoma | thyroid gland oncocytic adenoma
BMGC_DS09148,BMG_DS034602,thyroid hyalinizing trabecular adenoma
BMGC_DS09149,BMG_DS034603,thyroid lymphoma
BMGC_DS09150,BMG_DS034605,thyroid sarcoma
BMGC_DS09151,BMG_DS034609,tracheal lymphoma
BMGC_DS09152,BMG_DS034610,trachea sarcoma
BMGC_DS09153,BMG_DS034611,tuberculum sellae meningioma
BMGC_DS09154,BMG_DS034615,upper clivus meningioma
BMGC_DS09155,BMG_DS034616,ureter adenocarcinoma
BMGC_DS09156,BMG_DS034617,ureter inverted papilloma
BMGC_DS09157,BMG_DS034618,ureter leiomyoma
BMGC_DS09158,BMG_DS034619,ureteral lymphoma
BMGC_DS09159,BMG_DS034620,schwannoma of ureter
BMGC_DS09160,BMG_DS034621,ureter small cell carcinoma
BMGC_DS09161,BMG_DS034622,ureter squamous cell carcinoma
BMGC_DS09162,BMG_DS034623,fibroepithelial polyp of urethra
BMGC_DS09163,BMG_DS034624,urethra adenocarcinoma
BMGC_DS09164,BMG_DS034625,urethra clear cell adenocarcinoma
BMGC_DS09165,BMG_DS034626,urethra inverted papilloma
BMGC_DS09166,BMG_DS034627,urethra leiomyoma
BMGC_DS09167,BMG_DS034628,nephrogenic adenoma of the urethra
BMGC_DS09168,BMG_DS034629,urethra squamous cell carcinoma
BMGC_DS09169,BMG_DS034637,adenomyoma of uterine corpus
BMGC_DS09170,BMG_DS034638,uterine corpus choriocarcinoma
BMGC_DS09171,BMG_DS034639,endometrial adenocarcinoma | endometrial endometrioid adenocarcinoma
BMGC_DS09172,BMG_DS034640,endometrial endometrioid adenocarcinoma with spindled epithelial cells | sarcomatoid uterine corpus endometrioid adenocarcinoma
BMGC_DS09173,BMG_DS034641,uterine corpus adenosarcoma
BMGC_DS09174,BMG_DS034643,vagina leiomyosarcoma
BMGC_DS09175,BMG_DS034645,vaginal yolk sac tumor
BMGC_DS09176,BMG_DS034647,penis verrucous carcinoma
BMGC_DS09177,BMG_DS034648,villoglandular endometrial endometrioid adenocarcinoma
BMGC_DS09178,BMG_DS034649,optic nerve astrocytoma | optic tract astrocytoma
BMGC_DS09179,BMG_DS034651,vulva adenocarcinoma | vulvar adenocarcinoma
BMGC_DS09180,BMG_DS034652,vulva basal cell carcinoma
BMGC_DS09181,BMG_DS034653,vulva fibroepithelial polyp
BMGC_DS09182,BMG_DS034654,vulvar seborrheic keratosis
BMGC_DS09183,BMG_DS034655,vestibular papilloma | vulvar squamous papilloma
BMGC_DS09184,BMG_DS034656,vulva verrucous carcinoma
BMGC_DS09185,BMG_DS034659,benign intermediate mesothelioma | well differentiated papillary mesothelioma
BMGC_DS09186,BMG_DS034660,differentiated thyroid carcinoma
BMGC_DS09187,BMG_DS034661,Xanthogranulomatous cholecystitis | Xanthogranulomatous cholecystitis (disorder) | xanthogranulomatous cholecystitis
BMGC_DS09188,BMG_DS034663,central nervous system endodermal sinus tumor | yolk sac tumor of central nervous system
BMGC_DS09189,BMG_DS034665,Acute amebiasis | Acute amebiasis (disorder) | Acute amebic dysentery without mention of abscess | Acute amoebiasis
BMGC_DS09190,BMG_DS034670,cerebral cavernous malformation 1
BMGC_DS09191,BMG_DS034671,kaposiform hemangioendothelioma
BMGC_DS09192,BMG_DS034672,juvenile nasopharyngeal angiofibroma
BMGC_DS09193,BMG_DS034673,marginal zone lymphoma
BMGC_DS09194,BMG_DS034674,eccrine papillary adenocarcinoma
BMGC_DS09195,BMG_DS034676,pineal parenchymal tumor of intermediate differentiation
BMGC_DS09196,BMG_DS034679,Paget disease | mammary Paget's disease
BMGC_DS09197,BMG_DS034680,ARDS - Adult respiratory distress syndrome | Acquired respiratory distress syndrome | Acute respiratory distress syndrome | Acute respiratory distress syndrome (disorder) | Adult hyaline membrane disease | Adult respiratory distress syndrome | Congestive atelectasis | DaNang lung | Post-traumatic pulmonary insufficiency | Pulmonary capillary leak syndrome | Pulmonary insufficiency following trauma | Pulmonary insufficiency following trauma (disorder) | Shock lung | Traumatic wet lung | Vietnam lung
BMGC_DS09198,BMG_DS034681,ARDS - Adult respiratory distress syndrome | Acquired respiratory distress syndrome | Acute respiratory distress syndrome | Acute respiratory distress syndrome (disorder) | Adult hyaline membrane disease | Adult respiratory distress syndrome | Congestive atelectasis | DaNang lung | Post-traumatic pulmonary insufficiency | Pulmonary capillary leak syndrome | Pulmonary insufficiency following shock | Pulmonary insufficiency following shock (disorder) | Shock lung | Traumatic wet lung | Vietnam lung
BMGC_DS09199,BMG_DS034682,pancreatic somatostatinoma
BMGC_DS09200,BMG_DS034683,pancreatic gastrin-producing neuroendocrine tumor | pancreatic gastrinoma
BMGC_DS09201,BMG_DS034686,basal cell carcinoma
BMGC_DS09202,BMG_DS034687,mixed cell type cancer | mixed neoplasm
BMGC_DS09203,BMG_DS034689,carcinoma | epithelial neoplasm
BMGC_DS09204,BMG_DS034691,sebaceous adenoma
BMGC_DS09205,BMG_DS034692,childhood neoplasm
BMGC_DS09206,BMG_DS034693,adult cystic teratoma
BMGC_DS09207,BMG_DS034695,cystic teratoma
BMGC_DS09208,BMG_DS034696,mature teratoma
BMGC_DS09209,BMG_DS034697,peritoneal serous papillary adenocarcinoma | primary peritoneal serous/papillary carcinoma
BMGC_DS09210,BMG_DS034699,ovarian granulosa cell tumor
BMGC_DS09211,BMG_DS034700,scrotal carcinoma
BMGC_DS09212,BMG_DS034701,tanycytic ependymoma
BMGC_DS09213,BMG_DS034702,adult central nervous system embryonal carcinoma
BMGC_DS09214,BMG_DS034703,adult central nervous system germinoma
BMGC_DS09215,BMG_DS034704,adult central nervous system choriocarcinoma
BMGC_DS09216,BMG_DS034705,adult central nervous system teratoma
BMGC_DS09217,BMG_DS034706,cerebellar liponeurocytoma
BMGC_DS09218,BMG_DS034707,chordoid meningioma
BMGC_DS09219,BMG_DS034708,perineurioma
BMGC_DS09220,BMG_DS034709,intraneural perineurioma
BMGC_DS09221,BMG_DS034710,plexiform schwannoma
BMGC_DS09222,BMG_DS034711,clear cell hidradenoma
BMGC_DS09223,BMG_DS034713,bile duct adenocarcinoma
BMGC_DS09224,BMG_DS034714,Interstitial emphysema | Interstitial emphysema (morphologic abnormality) | Soft tissue emphysema | interstitial emphysema | pulmonary interstitial emphysema
BMGC_DS09225,BMG_DS034715,well-differentiated liposarcoma
BMGC_DS09226,BMG_DS034716,inflammatory liposarcoma
BMGC_DS09227,BMG_DS034717,childhood germ cell brain tumor
BMGC_DS09228,BMG_DS034718,childhood CNS choriocarcinoma | pediatric CNS choriocarcinoma
BMGC_DS09229,BMG_DS034719,childhood CNS embryonal cell carcinoma | childhood central nervous system embryonal carcinoma
BMGC_DS09230,BMG_DS034721,central nervous system endodermal sinus tumor
BMGC_DS09231,BMG_DS034723,nasal cavity carcinoma
BMGC_DS09232,BMG_DS034724,periosteal osteogenic sarcoma
BMGC_DS09233,BMG_DS034725,mucinous cystadenofibroma
BMGC_DS09234,BMG_DS034726,papillary adenofibroma
BMGC_DS09235,BMG_DS034727,clear cell cystadenofibroma
BMGC_DS09236,BMG_DS034728,testis refractory cancer
BMGC_DS09237,BMG_DS034731,benign pleural mesothelioma | pleural mesothelioma
BMGC_DS09238,BMG_DS034732,adult brainstem gliosarcoma
BMGC_DS09239,BMG_DS034733,adult brainstem mixed glioma
BMGC_DS09240,BMG_DS034735,oncocytic neoplasm
BMGC_DS09241,BMG_DS034737,acute leukemia
BMGC_DS09242,BMG_DS034738,renal carcinoma
BMGC_DS09243,BMG_DS034739,sternum cancer
BMGC_DS09244,BMG_DS034740,sebaceous carcinoma | sebaceous gland cancer
BMGC_DS09245,BMG_DS034741,cellular ependymoma
BMGC_DS09246,BMG_DS034742,secretory meningioma
BMGC_DS09247,BMG_DS034743,microcystic meningioma
BMGC_DS09248,BMG_DS034744,leptomeningeal sarcoma | leptomeninges sarcoma
BMGC_DS09249,BMG_DS034748,Conn Syndrome | Conn's syndrome | Hyperaldosteronism | primary aldosteronism
BMGC_DS09250,BMG_DS034749,"Eunuchoidism | Eunuchoidism hypogonadism | Eunuchoidism, hypogonadism | Male hypogonadism | Male hypogonadism (disorder) | Primary failure of the testes | Primary gonadal failure | Primary hypogonadism | Primary hypogonadism (disorder) | Primary male hypogonadism | Primary testicular failure | Primary testicular failure (disorder) | Testicular failure | Testicular hypogonadism"
BMGC_DS09251,BMG_DS034750,AZF - Azoospermia factor | Azoospermia factor | Congenital absence of germinal epithelium of testes | Congenital absence of germinal epithelium of testes (disorder) | Gene deletion in AZF region of Y chromosome | Germinal aplasia | Germinal cell absence | Sertoli cell-only syndrome | Sertoli-cell-only syndrome
BMGC_DS09252,BMG_DS034753,(Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) (disorder) | (Tinea: [groin/perianal] or [cruris]) or (Dhobie itch) | (Tinea: [groin/perianal] or [cruris]) or (Dhobie itch) (disorder) | Dermatophytosis of groin | Dermatophytosis of groin and perianal area | Dermatophytosis of groin and pubic area | Dermatophytosis of groin and pubic area (disorder) | Dhobie itch | Eczema marginatum | Genitocrural dermatophytosis | Hebrae | Jock itch | Ringworm of genitocrural region | Tinea cruris | Tinea cruris (disorder) | Tinea inguinalis | Tinea of groin | Tinea of groin/perianal | Tinea of perianal region
BMGC_DS09253,BMG_DS034756,Juvenile arthritis with systemic onset | Juvenile onset Still's disease | Systemic juvenile idiopathic arthritis | Systemic onset juvenile chronic arthritis | Systemic onset juvenile chronic arthritis (disorder) | Systemic onset juvenile rheumatoid arthritis
BMGC_DS09254,BMG_DS034759,"(Spondyloses: [cervical] or [lumbar] or [sacral]) or (arthritis - spine) or (osteoarthritis - spine) | (Spondyloses: [cervical] or [lumbar] or [sacral]) or (arthritis - spine) or (osteoarthritis - spine) (disorder) | Arthritis - spine | Arthritis of spine | CS - Cervical spondylosis | Cervical arthritis | Cervical osteoarthritis | Cervical spine degeneration | Cervical spondylarthritis | Cervical spondylitis | Cervical spondyloarthritis | Cervical spondylosis | Cervical spondylosis (& [without myelopathy]) or (osteoarthritis cervical spine) | Cervical spondylosis (& [without myelopathy]) or (osteoarthritis cervical spine) (disorder) | Cervical spondylosis (disorder) | Cervical spondylosis without myelopathy | Degeneration of lumbar spine | Lumbar spondylosis | Osteoarthritis - spine | Osteoarthritis cervical spine | Osteoarthritis of cervical spine | Osteoarthritis of spine | Sacral spondylosis | Spondyloses | spondylosis, cervical"
BMGC_DS09255,BMG_DS034760,hearing loss disorder
BMGC_DS09256,BMG_DS034763,bladder transitional cell papilloma | bladder urothelial papilloma
BMGC_DS09257,BMG_DS034773,Cystic Disease Of Lung
BMGC_DS09258,BMG_DS034789,Aneurysm Of Interventricular Septum | interventricular septum aneurysm
BMGC_DS09259,BMG_DS034790,Angiostrongylus costaricensis infection | angiostrongyliasis
BMGC_DS09260,BMG_DS034795,breast apocrine adenoma
BMGC_DS09261,BMG_DS034799,atrioventricular septal defect
BMGC_DS09262,BMG_DS034802,Peroneal muscle atrophy
BMGC_DS09263,BMG_DS034819,Congenital cardiomyopathy | Endocardial fibroelastosis
BMGC_DS09264,BMG_DS034840,Intrinsic Factor Deficiency | hereditary intrinsic factor deficiency
BMGC_DS09265,BMG_DS034847,polydactyly of a biphalangeal thumb
BMGC_DS09266,BMG_DS034872,Ectopic rhythm | Ectopic rhythm (disorder)
BMGC_DS09267,BMG_DS034874,HEMIFACIAL HYPERPLASIA | hemifacial hypertrophy
BMGC_DS09268,BMG_DS034912,Retinitis punctata albescens | Retinitis punctata albescens (disorder) | retinitis punctata albescens
BMGC_DS09269,BMG_DS034941,"incisors, shovel-shaped"
BMGC_DS09270,BMG_DS034952,"Chronic vascular disorders of intestine, unspecified | Mesenteric vascular insufficiency | Mesenteric vascular insufficiency (disorder)"
BMGC_DS09271,BMG_DS034954,pineal body neoplasm | pineal gland cancer
BMGC_DS09272,BMG_DS034956,sweat gland carcinoma
BMGC_DS09273,BMG_DS034958,anal squamous cell carcinoma
BMGC_DS09274,BMG_DS034959,anal margin squamous cell carcinoma
BMGC_DS09275,BMG_DS034960,Paine syndrome
BMGC_DS09276,BMG_DS034961,"DEAFNESS, AUTOSOMAL RECESSIVE 25 | autosomal recessive nonsyndromic hearing loss 25"
BMGC_DS09277,BMG_DS034962,"Dystonia 6, torsion | torsion dystonia 6"
BMGC_DS09278,BMG_DS034964,"HETEROTAXY, VISCERAL, 2, AUTOSOMAL | heterotaxy, visceral, 2, autosomal"
BMGC_DS09279,BMG_DS034965,RETINITIS PIGMENTOSA 23 | retinitis pigmentosa 23
BMGC_DS09280,BMG_DS034966,RETINITIS PIGMENTOSA 28 | retinitis pigmentosa 28
BMGC_DS09281,BMG_DS034968,CONE-ROD DYSTROPHY 9 | cone-rod dystrophy 9
BMGC_DS09282,BMG_DS034975,Solar dermatitis | Sunburn | Sunburn (disorder)
BMGC_DS09283,BMG_DS034977,Hypervitaminosis D | Hypervitaminosis D (disorder) | Vitamin D excess | Vitamin D intoxication | hypervitaminosis D
BMGC_DS09284,BMG_DS034979,"Lumbar Osteoarthritis | Osteoarthritis, Spine"
BMGC_DS09285,BMG_DS034983,Exostoses | exostosis
BMGC_DS09286,BMG_DS034987,"Muscular Dystrophy, Cardiac Type | muscular dystrophy, cardiac type"
BMGC_DS09287,BMG_DS034988,"Chondrodysplasia Punctata, Autosomal Dominant | autosomal dominant chondrodysplasia punctata"
BMGC_DS09288,BMG_DS034992,Actinic cheilitis | Actinic cheilitis (disorder) | Actinic keratosis | Actinic keratosis (morphologic abnormality) | Actinic porokeratosis | DSAP - Disseminated superficial actinic porokeratosis | Disseminated superficial actinic porokeratosis | Disseminated superficial actinic porokeratosis (disorder) | Keratinocytic intraepidermal neoplasia | Senile keratoma | Solar keratosis | Solar keratosis of lip
BMGC_DS09289,BMG_DS034993,Aseptic necrosis of capital femoral epiphysis | Avascular necrosis of capital femoral epiphysis | Avascular necrosis of capital femoral epiphysis (disorder) | Avascular necrosis of the capital femoral epiphysis | Juvenile osteochondritis of hip AND/OR pelvis | Juvenile osteochondrosis of hip AND/OR pelvis (disorder) | Legg-Calve-Perthes disease | Osteonecrosis of capital femoral epiphysis | Perthes disease | Perthes disease of hip | Pseudocoxalgia
BMGC_DS09290,BMG_DS034995,ALD - Alcoholic liver disease | Alcoholic liver damage | Alcoholic liver damage (disorder) | Alcoholic liver disease
BMGC_DS09291,BMG_DS034997,"Hyperglycinaemia with ketosis AND leucopenia, types I AND/OR II | Hyperglycinaemia with ketosis and leucopenia | Hyperglycinaemia with ketosis and leucopenia, types I and II | Hyperglycinemia with ketosis AND leukopenia, types I AND/OR II | Hyperglycinemia with ketosis and leukopenia | Hyperglycinemia with ketosis and leukopenia, types I and II | Ketotic glycinaemia | Ketotic glycinaemia, types I and II | Ketotic glycinemia | Ketotic glycinemia, types I and II | Ketotic hyperglycinaemia | Ketotic hyperglycinemia | PCC - Propionyl-CoA carboxylase deficiency | Propionic acidaemia | Propionic acidaemia, type I | Propionic acidaemia, type II | Propionic acidemia | Propionic acidemia (disorder) | Propionic acidemia, type I | Propionic acidemia, type II | Propionic aciduria | Propionyl-CoA carboxylase deficiency | Propionyl-CoA carboxylase deficiency (disorder)"
BMGC_DS09292,BMG_DS035009,Carnitine Acetyltransferase Deficiency | carnitine acetyltransferase deficiency
BMGC_DS09293,BMG_DS035035,Chronic Q Fever | Q Fever
BMGC_DS09294,BMG_DS035049,Neomycin sulfate allergy | Neomycin sulfate allergy (disorder) | Neomycin sulphate allergy | neomycin sulfate allergic contact dermatitis
BMGC_DS09295,BMG_DS035115,"Juvenile idiopathic arthritis, extended oligoarthritis | Juvenile idiopathic arthritis, extended oligoarthritis (disorder)"
BMGC_DS09296,BMG_DS035128,"Cardiomyopathy, Dilated | Cardiomyopathy, Familial Idiopathic | dilated cardiomyopathy 1A"
BMGC_DS09297,BMG_DS035129,CADASIL | CADASILM
BMGC_DS09298,BMG_DS035130,Sphincter of Oddi Dysfunction | Sphincter of Oddi Stenosis
BMGC_DS09299,BMG_DS035131,Biliary Dyskinesia | Gallbladder Dyskinesia
BMGC_DS09300,BMG_DS035132,Peritonitis | Primary Peritonitis
BMGC_DS09301,BMG_DS035133,Peritonitis | Secondary Peritonitis
BMGC_DS09302,BMG_DS035134,Breast Diseases | Endocrine Breast Diseases
BMGC_DS09303,BMG_DS035135,Adolescent Gynecomastia | Gynecomastia
BMGC_DS09304,BMG_DS035136,Gynecomastia | Infant Gynecomastia | infant gynecomastia
BMGC_DS09305,BMG_DS035139,"Pseudohypoaldosteronism | Pseudohypoaldosteronism, Type I, Autosomal Dominant | autosomal dominant pseudohypoaldosteronism type 1"
BMGC_DS09306,BMG_DS035140,"Pseudohypoaldosteronism | Pseudohypoaldosteronism, Type I, Autosomal Recessive | autosomal dominant pseudohypoaldosteronism type 1"
BMGC_DS09307,BMG_DS035141,"Pseudohypoaldosteronism | Pseudohypoaldosteronism, Type II | pseudohypoaldosteronism type 2"
BMGC_DS09308,BMG_DS035142,Erythematotelangiectatic Rosacea | Rosacea
BMGC_DS09309,BMG_DS035143,Papulopustular Rosacea | Rosacea
BMGC_DS09310,BMG_DS035144,Phymatous Rosacea | Rosacea
BMGC_DS09311,BMG_DS035145,"Autosomal Recessive Emery-Dreifuss Muscular Dystrophy | Muscular Dystrophy, Emery-Dreifuss"
BMGC_DS09312,BMG_DS035146,Distal Myopathies | Tibial Muscular Dystrophy
BMGC_DS09313,BMG_DS035153,AFLP - acute fatty liver of pregnancy | Acute fatty liver of pregnancy | Acute fatty liver of pregnancy (disorder) | Necrosis of liver of pregnancy | Necrosis of liver of pregnancy (disorder) | Nonalcoholic fatty liver during pregnancy | acute fatty liver of pregnancy
BMGC_DS09314,BMG_DS035160,Gastric hypertonus | Increased gastric tonus | Increased gastric tonus (finding) | Vagotonia
BMGC_DS09315,BMG_DS035164,dental caries | smooth surface dental caries
BMGC_DS09316,BMG_DS035165,dentine erosion
BMGC_DS09317,BMG_DS035166,pulp erosion
BMGC_DS09318,BMG_DS035168,internal pathological resorption
BMGC_DS09319,BMG_DS035179,Narcolepsy without cataplexy | Narcolepsy without cataplexy (disorder) | narcolepsy without cataplexy
BMGC_DS09320,BMG_DS035181,Midline cystocele | Midline cystocele (disorder) | midline cystocele
BMGC_DS09321,BMG_DS035182,perineocele
BMGC_DS09322,BMG_DS035183,pelvic muscle wasting
BMGC_DS09323,BMG_DS035187,non-renal secondary hyperparathyroidism
BMGC_DS09324,BMG_DS035190,alcohol-induced mental disorder
BMGC_DS09325,BMG_DS035200,Still disease with juvenile onset and/or adult onset | Still's disease | Still's disease with juvenile onset and/or adult onset | Still's disease with juvenile onset and/or adult onset (disorder)
BMGC_DS09326,BMG_DS035202,Ureteral Calculi
BMGC_DS09327,BMG_DS035204,Alpha plus thalassaemia | Alpha plus thalassemia | Alpha plus thalassemia (disorder) | Alpha thalassaemia 2 | Alpha thalassemia 2
BMGC_DS09328,BMG_DS035207,Bruton's agammaglobulinaemia | Bruton's agammaglobulinemia | Congenital X-linked agammaglobulinaemia | Congenital X-linked agammaglobulinemia | Congenital hypogammaglobulinaemia | Congenital hypogammaglobulinemia | Congenital hypogammaglobulinemia (finding) | Congenital sex-linked agammaglobulinaemia | Congenital sex-linked agammaglobulinemia | Hypogammaglobulinaemia: [congenital] or [agammaglobulinaemia: (Bruton's) or (congenital sex-linked & [X-linked])] | Hypogammaglobulinaemia: [congenital] or [agammaglobulinaemia: (Bruton's) or (congenital sex-linked & [X-linked])] (disorder) | Hypogammaglobulinemia: [congenital] or [agammaglobulinemia: (Bruton's) or (congenital sex-linked & [X-linked])] | congenital hypogammaglobulinemia
BMGC_DS09329,BMG_DS035212,breast neoplasm
BMGC_DS09330,BMG_DS035218,"Puberty, Precocious | Testotoxicosis | familial male-limited precocious puberty"
BMGC_DS09331,BMG_DS035227,Stenosis of middle cerebral artery | Stenosis of middle cerebral artery (disorder)
BMGC_DS09332,BMG_DS035228,partial chromosome Y deletion
BMGC_DS09333,BMG_DS035229,histiocytoma
BMGC_DS09334,BMG_DS035230,lung sclerosing hemangioma | sclerosing hemangioma
BMGC_DS09335,BMG_DS035232,osteosclerotic myeloma
BMGC_DS09336,BMG_DS035233,Gait Apraxia | gait apraxia
BMGC_DS09337,BMG_DS035236,Entrapment Neuropathies | Nerve Compression Syndromes | nerve compression syndrome
BMGC_DS09338,BMG_DS035237,Chronic Actinic Dermatitis | Photosensitivity Disorders
BMGC_DS09339,BMG_DS035240,acrocephalosyndactylia | acrocephalosyndactyly
BMGC_DS09340,BMG_DS035241,Orofaciodigital Syndrome I | Orofaciodigital Syndromes | orofaciodigital syndrome I
BMGC_DS09341,BMG_DS035242,Avitaminosis | Vitamin Deficiency | vitamin deficiency disorder
BMGC_DS09342,BMG_DS035243,drug dependence
BMGC_DS09343,BMG_DS035244,Diverticulosis | Diverticulum | Diverticulum (morphologic abnormality)
BMGC_DS09344,BMG_DS035245,Brachial Plexus Neuritis | Neuralgic Amyotrophy | amyotrophic neuralgia | neuralgic amyotrophy
BMGC_DS09345,BMG_DS035246,"Cerebral Amyloid Angiopathy, Familial | Cerebral Amyloid Angiopathy, Hereditary | cerebral amyloid angiopathy"
BMGC_DS09346,BMG_DS035247,oncocytic adenoma | oxyphilic adenoma
BMGC_DS09347,BMG_DS035250,autism spectrum disorder
BMGC_DS09348,BMG_DS035251,Absolute anaemia | Absolute anemia | Anaemia | Anemia | Anemia (disorder)
BMGC_DS09349,BMG_DS035252,adenocarcinofibroma | malignant adenofibroma
BMGC_DS09350,BMG_DS035253,epididymal adenocarcinoma | epididymis adenocarcinoma
BMGC_DS09351,BMG_DS035255,breast adenomyoepithelioma
BMGC_DS09352,BMG_DS035256,adenosquamous breast carcinoma
BMGC_DS09353,BMG_DS035257,atypical neurofibroma
BMGC_DS09354,BMG_DS035258,Bartholin gland adenoid cystic carcinoma | Bartholin's gland adenoid cystic carcinoma
BMGC_DS09355,BMG_DS035259,Bartholin gland adenoma | Bartholin's gland adenoma
BMGC_DS09356,BMG_DS035260,Bartholin gland adenomyoma | Bartholin's gland adenomyoma
BMGC_DS09357,BMG_DS035261,Bartholin gland adenosquamous carcinoma | Bartholin's gland adenosquamous carcinoma
BMGC_DS09358,BMG_DS035262,Bartholin gland small cell carcinoma | Bartholin's gland small cell carcinoma
BMGC_DS09359,BMG_DS035263,Bartholin's gland squamous cell carcinoma | bartholin gland squamous cell carcinoma
BMGC_DS09360,BMG_DS035264,Bartholin gland transitional cell carcinoma | Bartholin's gland transitional cell carcinoma
BMGC_DS09361,BMG_DS035265,cervical basaloid carcinoma | cervical basaloid squamous cell carcinoma
BMGC_DS09362,BMG_DS035267,benign mixed tumor of the vulva | chondroid syringoma of the vulva
BMGC_DS09363,BMG_DS035269,benign vaginal carcinosarcoma | benign vaginal mixed epithelial and mesenchymal neoplasm
BMGC_DS09364,BMG_DS035270,benign vaginal mixed tumor | vaginal spindle cell epithelioma
BMGC_DS09365,BMG_DS035271,bladder diffuse clear cell adenocarcinoma
BMGC_DS09366,BMG_DS035272,bladder colonic type adenocarcinoma
BMGC_DS09367,BMG_DS035273,bladder hepatoid adenocarcinoma
BMGC_DS09368,BMG_DS035275,bladder mixed adenocarcinoma
BMGC_DS09369,BMG_DS035276,bladder colloid adenocarcinoma
BMGC_DS09370,BMG_DS035277,bladder papillary clear cell adenocarcinoma
BMGC_DS09371,BMG_DS035278,bladder papillary transitional cell neoplasm | bladder papillary urothelial neoplasm
BMGC_DS09372,BMG_DS035280,bladder tubulo-cystic clear cell adenocarcinoma
BMGC_DS09373,BMG_DS035281,bladder urachal adenocarcinoma
BMGC_DS09374,BMG_DS035282,bladder urachal squamous cell carcinoma
BMGC_DS09375,BMG_DS035283,bladder urachal urothelial carcinoma
BMGC_DS09376,BMG_DS035284,bladder verrucous carcinoma | bladder verrucous squamous cell carcinoma
BMGC_DS09377,BMG_DS035285,botryoid-type embryonal rhabdomyosarcoma of the vagina | vagina botryoid rhabdomyosarcoma
BMGC_DS09378,BMG_DS035286,breast adenomyoepithelial adenosis
BMGC_DS09379,BMG_DS035287,breast angiomatosis
BMGC_DS09380,BMG_DS035288,breast columnar cell mucinous carcinoma
BMGC_DS09381,BMG_DS035290,breast ductal adenoma
BMGC_DS09382,BMG_DS035292,breast granular cell tumor
BMGC_DS09383,BMG_DS035293,breast hemangiopericytoma
BMGC_DS09384,BMG_DS035294,breast large cell neuroendocrine carcinoma
BMGC_DS09385,BMG_DS035296,breast mucinous cystadenocarcinoma
BMGC_DS09386,BMG_DS035297,breast myoepithelial neoplasm | breast myoepithelial tumor
BMGC_DS09387,BMG_DS035299,bulbomembranous urethral cancer
BMGC_DS09388,BMG_DS035300,differentiating neuroblastoma
BMGC_DS09389,BMG_DS035303,familiar fallopian tube carcinoma | hereditary fallopian tube carcinoma
BMGC_DS09390,BMG_DS035304,familial melanoma
BMGC_DS09391,BMG_DS035306,chronic NK-cell lymphocytosis | chronic lymphoproliferative disorder of NK-cells
BMGC_DS09392,BMG_DS035307,infiltrating bladder lymphoepithelioma-like carcinoma
BMGC_DS09393,BMG_DS035308,"clear cell variant infiltrating bladder urothelial carcinoma | infiltrating bladder urothelial carcinoma, clear cell variant"
BMGC_DS09394,BMG_DS035309,lipid-cell variant infiltrating bladder urothelial carcinoma
BMGC_DS09395,BMG_DS035310,lymphoma-like variant infiltrating bladder urothelial carcinoma
BMGC_DS09396,BMG_DS035311,microcystic variant infiltrating bladder urothelial carcinoma
BMGC_DS09397,BMG_DS035312,nested variant infiltrating bladder urothelial carcinoma
BMGC_DS09398,BMG_DS035313,plasmacytoid variant infiltrating bladder urothelial carcinoma
BMGC_DS09399,BMG_DS035314,infiltrating bladder urothelial carcinoma sarcomatoid variant
BMGC_DS09400,BMG_DS035315,infiltrating renal pelvis/ureter urothelial carcinoma | infiltrating ureter transitional cell carcinoma
BMGC_DS09401,BMG_DS035317,inner ear cancer | inner ear neoplasm
BMGC_DS09402,BMG_DS035318,intraductal breast myoepitheliosis
BMGC_DS09403,BMG_DS035319,malignant vaginal mixed epithelial and mesenchymal neoplasm | vaginal carcinosarcoma
BMGC_DS09404,BMG_DS035321,mixed endometrial stromal and smooth muscle tumor
BMGC_DS09405,BMG_DS035322,mixed epithelial/mesenchymal metaplastic breast carcinoma
BMGC_DS09406,BMG_DS035323,penis mixed squamous cell carcinoma
BMGC_DS09407,BMG_DS035324,mucin-rich endometrial endometrioid adenocarcinoma
BMGC_DS09408,BMG_DS035325,mucinous intrahepatic cholangiocarcinoma
BMGC_DS09409,BMG_DS035326,mucinous tubular and spindle renal cell carcinoma
BMGC_DS09410,BMG_DS035327,thyroid gland mucoepidermoid carcinoma
BMGC_DS09411,BMG_DS035329,breast myoepitheliosis
BMGC_DS09412,BMG_DS035331,polyembryoma of the ovary
BMGC_DS09413,BMG_DS035332,testis polyembryoma
BMGC_DS09414,BMG_DS035333,hypokalemia | potassium deficiency disease
BMGC_DS09415,BMG_DS035334,glioblastoma
BMGC_DS09416,BMG_DS035335,peritoneal carcinoma | primary peritoneal carcinoma
BMGC_DS09417,BMG_DS035336,peritoneal serous adenocarcinoma | primary peritoneal serous adenocarcinoma
BMGC_DS09418,BMG_DS035339,prostatic urethra urothelial carcinoma
BMGC_DS09419,BMG_DS035340,prostatic urethral cancer
BMGC_DS09420,BMG_DS035341,testicular pure germ cell tumor
BMGC_DS09421,BMG_DS035342,renal pelvis urothelial papilloma
BMGC_DS09422,BMG_DS035343,rete ovarii adenoma
BMGC_DS09423,BMG_DS035344,rete ovarii cystadenofibroma
BMGC_DS09424,BMG_DS035345,rete ovarii cystadenoma
BMGC_DS09425,BMG_DS035346,rete ovarii benign neoplasm | rete ovarii neoplasm
BMGC_DS09426,BMG_DS035348,rete testis neoplasm
BMGC_DS09427,BMG_DS035350,submucosal invasive colon adenocarcinoma
BMGC_DS09428,BMG_DS035351,synchronous bilateral breast carcinoma
BMGC_DS09429,BMG_DS035352,tamoxifen-related endometrial lesion
BMGC_DS09430,BMG_DS035353,testicular Brenner tumor
BMGC_DS09431,BMG_DS035356,adult type testicular granulosa cell tumor
BMGC_DS09432,BMG_DS035357,juvenile type testicular granulosa cell tumor
BMGC_DS09433,BMG_DS035358,malignant testicular Leydig cell tumor | testicular Leydig cell tumor
BMGC_DS09434,BMG_DS035359,testicular sex cord-stromal neoplasm
BMGC_DS09435,BMG_DS035360,testicular monophasic choriocarcinoma
BMGC_DS09436,BMG_DS035361,cribriform variant testicular seminoma
BMGC_DS09437,BMG_DS035362,pseudoglandular variant testicular seminoma
BMGC_DS09438,BMG_DS035363,tubular variant testicular seminoma
BMGC_DS09439,BMG_DS035365,testicular trophoblastic tumor
BMGC_DS09440,BMG_DS035366,"endodermal sinus pattern testicular yolk sac tumor | testicular yolk sac tumor, endodermal sinus pattern"
BMGC_DS09441,BMG_DS035367,enteric pattern testicular yolk sac tumor
BMGC_DS09442,BMG_DS035368,"glandular-alveolar pattern testicular yolk sac tumor | testicular yolk sac tumor, glandular-alveolar pattern"
BMGC_DS09443,BMG_DS035369,"hepatoid pattern testicular yolk sac tumor | testicular yolk sac tumor, hepatoid pattern"
BMGC_DS09444,BMG_DS035370,"macrocystic pattern testicular yolk sac tumor | testicular yolk sac tumor, macrocystic pattern"
BMGC_DS09445,BMG_DS035371,reticular pattern testicular yolk sac tumor
BMGC_DS09446,BMG_DS035372,"myxomatous pattern testicular yolk sac tumor | testicular yolk sac tumor, myxomatous pattern"
BMGC_DS09447,BMG_DS035373,"papillary pattern testicular yolk sac tumor | testicular yolk sac tumor, papillary pattern"
BMGC_DS09448,BMG_DS035374,polyvesicular vitelline pattern testicular yolk sac tumor
BMGC_DS09449,BMG_DS035375,"solid pattern testicular yolk sac tumor | testicular yolk sac tumor, solid pattern"
BMGC_DS09450,BMG_DS035376,lymphoepithelioma-like acinar prostate adenocarcinoma
BMGC_DS09451,BMG_DS035377,acinic cell breast carcinoma
BMGC_DS09452,BMG_DS035378,adult vagina botryoid embryonal rhabdomyosarcoma | adult vagina botryoid rhabdomyosarcoma
BMGC_DS09453,BMG_DS035379,Cowper gland carcinoma | carcinoma of Cowper glands
BMGC_DS09454,BMG_DS035380,Littre gland carcinoma
BMGC_DS09455,BMG_DS035381,cellular neurofibroma
BMGC_DS09456,BMG_DS035383,cervical adenoid basal carcinoma
BMGC_DS09457,BMG_DS035384,cervical adenomyoma
BMGC_DS09458,BMG_DS035385,endocervical type cervical adenomyoma
BMGC_DS09459,BMG_DS035386,"cervical adenosquamous carcinoma, glassy cell variant | glassy cell variant cervical adenosquamous carcinoma"
BMGC_DS09460,BMG_DS035387,cervical alveolar soft part sarcoma
BMGC_DS09461,BMG_DS035388,cervical atypical polypoid adenomyoma
BMGC_DS09462,BMG_DS035390,cervical large cell neuroendocrine carcinoma
BMGC_DS09463,BMG_DS035391,cervical lymphoepithelioma-like carcinoma
BMGC_DS09464,BMG_DS035392,Wolffian duct adenocarcinoma
BMGC_DS09465,BMG_DS035393,cervical carcinosarcoma
BMGC_DS09466,BMG_DS035394,intestinal variant cervical mucinous adenocarcinoma
BMGC_DS09467,BMG_DS035395,"cervical adenoma malignum | cervical mucinous adenocarcinoma, minimal deviation variant"
BMGC_DS09468,BMG_DS035396,signet ring cell variant cervical mucinous adenocarcinoma
BMGC_DS09469,BMG_DS035397,cervical adenosarcoma
BMGC_DS09470,BMG_DS035399,cervical serous adenocarcinoma
BMGC_DS09471,BMG_DS035400,cervical verrucous carcinoma
BMGC_DS09472,BMG_DS035401,cervical Wilms tumor | cervical Wilms' tumor
BMGC_DS09473,BMG_DS035402,classic congenital mesoblastic nephroma
BMGC_DS09474,BMG_DS035403,cholangiolocellular carcinoma
BMGC_DS09475,BMG_DS035404,cellular phase chronic idiopathic myelofibrosis
BMGC_DS09476,BMG_DS035405,clear cell basal cell carcinoma | skin clear cell basal cell carcinoma
BMGC_DS09477,BMG_DS035406,Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma | schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
BMGC_DS09478,BMG_DS035407,stroma-dominant and stroma-poor composite ganglioneuroblastoma
BMGC_DS09479,BMG_DS035409,endometrial small cell carcinoma
BMGC_DS09480,BMG_DS035410,endometrial transitional cell carcinoma
BMGC_DS09481,BMG_DS035412,fallopian tube adenofibroma | fallopian tube serous adenofibroma
BMGC_DS09482,BMG_DS035414,fallopian tube cystadenofibroma
BMGC_DS09483,BMG_DS035415,fallopian tube endometrioid adenocarcinoma | fallopian tube endometrioid tumor
BMGC_DS09484,BMG_DS035416,fallopian tube germ cell cancer | fallopian tube germ cell tumor
BMGC_DS09485,BMG_DS035418,fallopian tube leiomyosarcoma
BMGC_DS09486,BMG_DS035419,fallopian tube carcinosarcoma
BMGC_DS09487,BMG_DS035420,fallopian tube mucinous adenocarcinoma
BMGC_DS09488,BMG_DS035422,fallopian tube adenosarcoma
BMGC_DS09489,BMG_DS035424,fallopian tube serous adenocarcinoma
BMGC_DS09490,BMG_DS035425,fallopian tube teratoma
BMGC_DS09491,BMG_DS035426,fallopian tube transitional cell carcinoma
BMGC_DS09492,BMG_DS035427,female urethral cancer
BMGC_DS09493,BMG_DS035428,intermixed schwannian stroma-rich ganglioneuroblastoma
BMGC_DS09494,BMG_DS035429,nodular ganglioneuroblastoma
BMGC_DS09495,BMG_DS035430,gestational ovarian choriocarcinoma
BMGC_DS09496,BMG_DS035431,micropapillary variant infiltrating bladder urothelial carcinoma
BMGC_DS09497,BMG_DS035432,cervical keratinizing squamous cell carcinoma
BMGC_DS09498,BMG_DS035433,late yaws
BMGC_DS09499,BMG_DS035435,breast lipid-rich carcinoma | lipid-rich breast carcinoma
BMGC_DS09500,BMG_DS035437,male urethral cancer
BMGC_DS09501,BMG_DS035438,breast myoepithelial carcinoma | malignant breast myoepithelioma
BMGC_DS09502,BMG_DS035439,cervical carcinosarcoma
BMGC_DS09503,BMG_DS035441,ovarian endometrial cancer
BMGC_DS09504,BMG_DS035442,mucinous ovarian cancer | ovarian mucinous neoplasm
BMGC_DS09505,BMG_DS035443,malignant ovarian serous tumor | ovary serous adenocarcinoma
BMGC_DS09506,BMG_DS035444,malignant ovarian surface epithelial-stromal neoplasm
BMGC_DS09507,BMG_DS035445,non-gestational ovarian choriocarcinoma
BMGC_DS09508,BMG_DS035446,non-invasive bladder papillary urothelial neoplasm
BMGC_DS09509,BMG_DS035447,urinary tract non-invasive transitional cell neoplasm
BMGC_DS09510,BMG_DS035448,cervical non-keratinizing squamous cell carcinoma
BMGC_DS09511,BMG_DS035449,breast oncocytic carcinoma | oncocytic breast carcinoma
BMGC_DS09512,BMG_DS035450,ovarian biphasic or triphasic teratoma
BMGC_DS09513,BMG_DS035451,ovarian clear cell adenocarcinoma
BMGC_DS09514,BMG_DS035452,ovarian clear cell adenofibroma
BMGC_DS09515,BMG_DS035453,ovarian clear cell cystadenofibroma
BMGC_DS09516,BMG_DS035454,ovarian endometrioid adenocarcinofibroma | ovarian endometrioid malignant adenofibroma
BMGC_DS09517,BMG_DS035455,ovarian endometrioid cystadenoma
BMGC_DS09518,BMG_DS035456,ovarian fetiform teratoma
BMGC_DS09519,BMG_DS035457,ovarian gonadoblastoma
BMGC_DS09520,BMG_DS035458,ovarian lymphoma
BMGC_DS09521,BMG_DS035459,ovarian malignant mesothelioma
BMGC_DS09522,BMG_DS035460,ovarian mucinous adenofibroma
BMGC_DS09523,BMG_DS035461,ovarian mucinous cystadenofibroma
BMGC_DS09524,BMG_DS035462,ovarian primitive germ cell tumor
BMGC_DS09525,BMG_DS035463,ovarian serous adenofibroma
BMGC_DS09526,BMG_DS035467,ovarian stromal hyperthecosis
BMGC_DS09527,BMG_DS035468,ovarian Wilms tumor | ovarian Wilms' cancer
BMGC_DS09528,BMG_DS035469,"glandular pattern ovarian yolk sac tumor | ovarian yolk sac tumor, glandular pattern"
BMGC_DS09529,BMG_DS035470,"hepatoid pattern ovarian yolk sac tumor | ovarian yolk sac tumor, hepatoid pattern"
BMGC_DS09530,BMG_DS035471,"ovarian yolk sac tumor, polyvesicular vitelline pattern | polyvesicular vitelline pattern ovarian yolk sac tumor"
BMGC_DS09531,BMG_DS035472,oxyphilic endometrial endometrioid adenocarcinoma
BMGC_DS09532,BMG_DS035474,pancreatic invasive mucinous cystadenocarcinoma | pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma
BMGC_DS09533,BMG_DS035475,pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma | pancreatic invasive intraductal papillary-mucinous carcinoma
BMGC_DS09534,BMG_DS035476,pancreatic mucinous cystadenoma | pancreatic mucinous-cystic neoplasm
BMGC_DS09535,BMG_DS035477,pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia | pancreatic non-invasive intraductal papillary-mucinous carcinoma
BMGC_DS09536,BMG_DS035478,pancreatic serous cystic neoplasm
BMGC_DS09537,BMG_DS035479,chromophil adenoma of the kidney
BMGC_DS09538,BMG_DS035480,bladder papillary urothelial carcinoma | bladder urothelial papillary carcinoma
BMGC_DS09539,BMG_DS035481,penis basal cell carcinoma
BMGC_DS09540,BMG_DS035482,penile urethral cancer
BMGC_DS09541,BMG_DS035483,periductal breast myoepitheliosis
BMGC_DS09542,BMG_DS035484,peripheral nerve schwannoma
BMGC_DS09543,BMG_DS035485,pilomyxoid astrocytoma
BMGC_DS09544,BMG_DS035487,pleomorphic adenoma
BMGC_DS09545,BMG_DS035488,sarcomatoid basal cell carcinoma
BMGC_DS09546,BMG_DS035489,sarcomatous intrahepatic cholangiocarcinoma
BMGC_DS09547,BMG_DS035490,sebaceous breast carcinoma
BMGC_DS09548,BMG_DS035491,seminal vesicle adenocarcinoma
BMGC_DS09549,BMG_DS035492,seminal vesicle cystadenoma
BMGC_DS09550,BMG_DS035493,signet ring basal cell carcinoma
BMGC_DS09551,BMG_DS035494,signet ring cell intrahepatic cholangiocarcinoma
BMGC_DS09552,BMG_DS035496,acantholytic variant squamous cell breast carcinoma
BMGC_DS09553,BMG_DS035497,large cell keratinizing variant squamous cell breast carcinoma
BMGC_DS09554,BMG_DS035498,spindle cell variant squamous cell breast carcinoma
BMGC_DS09555,BMG_DS035500,type 1 papillary adenoma of the kidney
BMGC_DS09556,BMG_DS035501,type 2 papillary adenoma of the kidney
BMGC_DS09557,BMG_DS035503,ureter urothelial papilloma
BMGC_DS09558,BMG_DS035504,urethral urothelial papilloma
BMGC_DS09559,BMG_DS035505,urethral verrucous carcinoma
BMGC_DS09560,BMG_DS035506,urethral villous adenoma
BMGC_DS09561,BMG_DS035508,uterine corpus atypical polypoid adenomyoma
BMGC_DS09562,BMG_DS035509,uterine corpus cellular leiomyoma
BMGC_DS09563,BMG_DS035510,uterine corpus dissecting leiomyoma
BMGC_DS09564,BMG_DS035511,uterine corpus endometrial stromal sarcoma
BMGC_DS09565,BMG_DS035512,uterine corpus epithelioid leiomyoma
BMGC_DS09566,BMG_DS035513,uterine corpus epithelioid leiomyosarcoma
BMGC_DS09567,BMG_DS035514,uterine corpus apoplectic leiomyoma
BMGC_DS09568,BMG_DS035517,uterine corpus lipoleiomyoma
BMGC_DS09569,BMG_DS035519,endometrial mucinous adenocarcinoma
BMGC_DS09570,BMG_DS035520,uterine corpus myxoid leiomyoma
BMGC_DS09571,BMG_DS035521,uterine corpus myxoid leiomyosarcoma
BMGC_DS09572,BMG_DS035522,uterine corpus perivascular epithelioid cell tumor | uterus perivascular epithelioid cell tumor
BMGC_DS09573,BMG_DS035524,uterine ligament cancer | uterine ligament neoplasm
BMGC_DS09574,BMG_DS035525,uterine ligament serous adenocarcinoma
BMGC_DS09575,BMG_DS035527,vaginal adenoma
BMGC_DS09576,BMG_DS035528,vaginal adenosarcoma
BMGC_DS09577,BMG_DS035529,vaginal carcinosarcoma
BMGC_DS09578,BMG_DS035530,vaginal glandular neoplasm | vaginal glandular tumor
BMGC_DS09579,BMG_DS035531,vaginal carcinosarcoma
BMGC_DS09580,BMG_DS035533,vaginal squamous tumor
BMGC_DS09581,BMG_DS035534,vaginal tubulovillous adenoma
BMGC_DS09582,BMG_DS035535,vaginal villous adenoma
BMGC_DS09583,BMG_DS035536,micropapillomatosis labialis | vestibular micropapillomatosis
BMGC_DS09584,BMG_DS035537,vulvar alveolar soft part sarcoma
BMGC_DS09585,BMG_DS035538,vulvar clear cell hidradenocarcinoma
BMGC_DS09586,BMG_DS035539,vulvar eccrine porocarcinoma
BMGC_DS09587,BMG_DS035540,vulvar glandular neoplasm | vulvar glandular tumor
BMGC_DS09588,BMG_DS035542,vulvar inverted follicular keratosis
BMGC_DS09589,BMG_DS035545,vulvar non-keratinizing squamous cell carcinoma
BMGC_DS09590,BMG_DS035546,vulvar proximal-type epithelioid sarcoma
BMGC_DS09591,BMG_DS035547,vulvar sebaceous carcinoma
BMGC_DS09592,BMG_DS035548,vulvar squamous neoplasm | vulvar squamous tumor
BMGC_DS09593,BMG_DS035551,Wolffian adnexal neoplasm | Wolffian adnexal tumor
BMGC_DS09594,BMG_DS035552,Intermittent cerebral ischaemia | Intermittent cerebral ischemia | Intermittent cerebral ischemia (disorder) | TIA - transient ischaemic attack | TIA - transient ischemic attack | Temporary cerebral vascular dysfunction | Transient cerebral ischaemia | Transient cerebral ischemia | Transient cerebral ischemia (disorder) | Transient ischaemic attack | Transient ischemic attack | Transient ischemic attack (disorder)
BMGC_DS09595,BMG_DS035555,Bonnevie-Ullrich Syndrome | Bonnevie-Ullrich syndrome | Turner Syndrome | Turner syndrome
BMGC_DS09596,BMG_DS035557,"CREST syndrome | CRST - Calcinosis, Raynaud's phenomenon, sclerodactyly, telangiectasia syndrome | CRST syndrome | Calcinosis cutis, Raynaud's, sclerodactyly AND telangiectasia | Calcinosis, Raynaud phenomenon, sclerodactyly, and telangiectasia (CRST) syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia (CRST) syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia syndrome (disorder) | Calcinosis, Raynaud's phenomenon, sclerodactyly, telangiectasia syndrome"
BMGC_DS09597,BMG_DS035558,ALD - adrenoleukodystrophy | AMN - adrenomyeloneuropathy | Adrenoleucodystrophy | Adrenoleukodystrophy | Adrenoleukodystrophy (disorder) | Adrenomyeloneuropathy | Adrenomyeloneuropathy (disorder) | Adult onset adrenoleukodystrophy | Bronze Schilder disease | Schilder-Addison complex | Siemerling-Creutzfeldt disease | X-linked adrenoleucodystrophy | X-linked adrenoleukodystrophy | adrenomyeloneuropathy
BMGC_DS09598,BMG_DS035560,Dental Pulp Calcification | Dental Pulp Stone | dentin dysplasia type II
BMGC_DS09599,BMG_DS035563,"Chronic Airflow Obstruction | Pulmonary Disease, Chronic Obstructive"
BMGC_DS09600,BMG_DS035564,Ametropia | Disorder of refraction | Disorder of refraction (disorder) | Refractive Errors | Refractive error
BMGC_DS09601,BMG_DS035565,brain edema
BMGC_DS09602,BMG_DS035566,Alpha-Aminoadipic Semialdehyde Deficiency Disease | Hyperlysinemias
BMGC_DS09603,BMG_DS035568,"Meniere Disease | Vertigo, Aural"
BMGC_DS09604,BMG_DS035569,Pyridoxine Deficiency | Vitamin B 6 Deficiency
BMGC_DS09605,BMG_DS035570,"Ischemic Attack, Transient | Transient Ischemic Attack, Anterior Circulation"
BMGC_DS09606,BMG_DS035571,Sjogren syndrome | Sjogren's Syndrome | Sjogren's syndrome
BMGC_DS09607,BMG_DS035572,"Amyloid Neuropathies, Familial | Familial Amyloid Polyneuropathy, Appalachian Type"
BMGC_DS09608,BMG_DS035573,"ACys amyloidosis | Cerebral Amyloid Angiopathy, Familial | Hereditary Cerebral Amyloid Angiopathy, Icelandic Type | cerebral amyloid angiopathy"
BMGC_DS09609,BMG_DS035574,breast ductal adenocarcinoma | invasive ductal carcinoma
BMGC_DS09610,BMG_DS035575,Nerve Root Disorder | Radiculopathy
BMGC_DS09611,BMG_DS035576,Hepatic Form of Wilson Disease | Hepatolenticular Degeneration
BMGC_DS09612,BMG_DS035577,Algodystrophic Syndrome | Reflex Sympathetic Dystrophy
BMGC_DS09613,BMG_DS035579,"Dermatitis, Phototoxic | Photosensitisation reaction | Photosensitive dermatitis | Photosensitization reaction | Phototoxicity | Phototoxicity (finding)"
BMGC_DS09614,BMG_DS035580,"Salaam Seizures | Spasms, Infantile | West syndrome"
BMGC_DS09615,BMG_DS035581,"Gingivitis, Necrotizing Ulcerative | Vincent Angina | necrotizing ulcerative gingivitis"
BMGC_DS09616,BMG_DS035582,Cystic Breast Disease | Fibrocystic Breast Disease
BMGC_DS09617,BMG_DS035583,"Localised scleroderma | Localized scleroderma | Localized scleroderma (disorder) | Morphea | Morphea (disorder) | Morphoea | Morphoea (disorder) | Scleroderma, Localized"
BMGC_DS09618,BMG_DS035586,Colonic Pseudo-Obstruction | Ogilvie Syndrome
BMGC_DS09619,BMG_DS035587,Cystic Fibrosis | Fibrocystic Disease of Pancreas
BMGC_DS09620,BMG_DS035590,Forestier-Certonciny syndrome | PMR - Polymyalgia rheumatica | Polymyalgia rheumatica | Polymyalgia rheumatica (disorder) | Rhizomelic pseudopolyarthritis | Senile arthritis
BMGC_DS09621,BMG_DS035591,Eosinophilic Pneumonia | Pulmonary Eosinophilia | eosinophilic pneumonia
BMGC_DS09622,BMG_DS035592,"Chronic kidney disease, stage unspecified | ROD - Renal osteodystrophy | Renal bone disease | Renal osteodystrophy | Renal osteodystrophy (disorder) | Renal rickets | Renal rickets (disorder)"
BMGC_DS09623,BMG_DS035593,Retinal vein thrombosis | Thrombosis of retinal vein | Thrombosis of retinal vein (disorder)
BMGC_DS09624,BMG_DS035594,Skene gland carcinoma | adenocarcinoma of skene gland origin
BMGC_DS09625,BMG_DS035616,atherosclerosis susceptibility
BMGC_DS09626,BMG_DS035618,Currarino syndrome | Currarino triad | Currarino triad (disorder)
BMGC_DS09627,BMG_DS035650,Disorder of immune function | Disorder of immune function (disorder) | Immune system disorder
BMGC_DS09628,BMG_DS035662,Endophthalmitis | Infectious Endophthalmitis
BMGC_DS09629,BMG_DS035708,Primary congenital glaucoma | Primary congenital glaucoma (disorder) | Primary infantile glaucoma | primary congenital glaucoma
BMGC_DS09630,BMG_DS035720,Chronic coronary insufficiency | Chronic ischaemic heart disease | Chronic ischemic heart disease | Chronic ischemic heart disease (disorder) | Chronic myocardial ischaemia | Chronic myocardial ischemia | Chronic myocardial ischemia (disorder)
BMGC_DS09631,BMG_DS035723,3-Ketoacyl-CoA thiolase deficiency | Peroxisomal thiolase deficiency | Peroxisomal thiolase deficiency (disorder) | Pseudo-Zellweger syndrome | beta-ketothiolase deficiency
BMGC_DS09632,BMG_DS035730,Disease of skeletal muscle | Disorder of skeletal muscle | Disorder of skeletal muscle (disorder) | skeletal muscle disorder
BMGC_DS09633,BMG_DS035732,Bleeding gums | Bleeding gums (finding) | Bleeding of subgingival space | Bleeding of subgingival space (disorder) | Crevicular bleeding of gum | Gingival bleeding | Gingival crevice bleeding | Gingival crevicular bleeding | Gingival haemorrhage | Gingival hemorrhage
BMGC_DS09634,BMG_DS036050,neurocirculatory asthenia
BMGC_DS09635,BMG_DS036052,neurodevelopmental disorder
BMGC_DS09636,BMG_DS036053,pneumocystosis
BMGC_DS09637,BMG_DS036054,"Polyendocrinopathies, Autoimmune | Polyglandular Type III Autoimmune Syndrome | autoimmune polyendocrinopathy type 3"
BMGC_DS09638,BMG_DS036058,Dysbacteriosis | Dysbiosis
BMGC_DS09639,BMG_DS036069,Central areolar choroidal dystrophy | Central areolar choroidal sclerosis | Central areolar choroidal sclerosis (disorder) | central areolar choroidal dystrophy
BMGC_DS09640,BMG_DS036080,3-Ketothiolase deficiency | 3-Methylhydroxybutyric acidaemia | 3-Methylhydroxybutyric acidemia | Acetoacetyl-CoA thiolase deficiency | Deficiency of acetoacetyl-CoA thiolase | Deficiency of acetyl-CoA acetyltransferase | Deficiency of acetyl-coenzyme A acetyltransferase | Deficiency of acetyl-coenzyme A acetyltransferase (disorder) | alpha-Methylacetoacetic aciduria | beta-ketothiolase deficiency
BMGC_DS09641,BMG_DS036144,"CAFL - Chronic airflow limitation | CAL - Chronic airflow limitation | CAO - Chronic airflow obstruction | COAD - Chronic obstructive airways disease | COLD - Chronic obstructive lung disease | COPD - Chronic obstructive pulmonary disease | Chronic airflow limitation | Chronic airflow obstruction | Chronic airway disease | Chronic airway obstruction | Chronic irreversible airway obstruction | Chronic obstructive airway disease | Chronic obstructive lung disease | Chronic obstructive lung disease, NEC | Chronic obstructive pulmonary disease | Chronic obstructive pulmonary disease (disorder)"
BMGC_DS09642,BMG_DS036273,Gastric outflow obstruction | Pyloric obstruction | Pyloric obstruction (disorder)
BMGC_DS09643,BMG_DS036363,Bacterial endocarditis | Bacterial endocarditis (disorder) | IE - Infective endocarditis | Infective endocarditis | Infective endocarditis (disorder) | infective endocarditis
BMGC_DS09644,BMG_DS036424,Fanconi anaemia | Fanconi anemia | Fanconi pancytopenia syndrome | Fanconi's anaemia | Fanconi's anemia | Fanconi's anemia (disorder) | Fanconi's familial refractory anaemia | Fanconi's familial refractory anemia | Fanconi's hypoplastic anaemia | Fanconi's hypoplastic anemia | Pancytopenia-dysmelia syndrome
BMGC_DS09645,BMG_DS036496,"Chronic Kidney Diseases | Renal Insufficiency, Chronic | chronic kidney disease"
BMGC_DS09646,BMG_DS036497,Overweight and obesity
BMGC_DS09647,BMG_DS036499,Anaemia co-occurrent and due to chronic kidney disease | Anaemia in chronic kidney disease | Anemia co-occurrent and due to chronic kidney disease | Anemia co-occurrent and due to chronic kidney disease (disorder) | Anemia in chronic kidney disease
BMGC_DS09648,BMG_DS036533,Fleck corneal dystrophy | Fleck corneal dystrophy (disorder) | fleck corneal dystrophy
BMGC_DS09649,BMG_DS036559,OHS-ocular histoplasmosis syndrome | Ocular histoplasmosis syndrome | Ocular histoplasmosis syndrome (disorder)
BMGC_DS09650,BMG_DS036560,"Leprosy, Multibacillary | multibacillary leprosy"
BMGC_DS09651,BMG_DS036566,Acute cerebellar syndrome | Acute cerebellar syndrome (disorder)
BMGC_DS09652,BMG_DS036574,TRAP- twin reversal arterial perfusion syndrome | Twin reversal arterial perfusion syndrome | Twin reversal arterial perfusion syndrome (disorder) | twin reversal arterial perfusion syndrome
BMGC_DS09653,BMG_DS036581,"CDB type II-Corneal dystrophy of Bowman's membrane, type II | Thiel-Behnke corneal dystrophy | Thiel-Behnke corneal dystrophy (disorder)"
BMGC_DS09654,BMG_DS036584,"Leprosy, Paucibacillary | paucibacillary leprosy"
BMGC_DS09655,BMG_DS036592,Dapsone resistant leprosy | Dapsone resistant leprosy (disorder) | Dapsone resistant mycobacterium leprae | Diaminodiphenylsulfone resistant leprosy | Diaminodiphenylsulphone resistant leprosy
BMGC_DS09656,BMG_DS036624,DNA Repair-Deficiency Disorders
BMGC_DS09657,BMG_DS036625,Chromosome Instability Syndromes | DNA Repair-Deficiency Disorders
BMGC_DS09658,BMG_DS036626,"Diabetes Insipidus, Nephrogenic | Nephrogenic Diabetes Insipidus, Type I | diabetes insipidus, nephrogenic, X-linked"
BMGC_DS09659,BMG_DS036627,"Diabetes Insipidus, Nephrogenic | Nephrogenic Diabetes Insipidus, Type II | diabetes insipidus, nephrogenic, autosomal"
BMGC_DS09660,BMG_DS036628,Graves Ophthalmopathy | Graves ophthalmopathy | Myopathic Ophthalmopathy
BMGC_DS09661,BMG_DS036629,Andersen Syndrome | Andersen-Tawil syndrome
BMGC_DS09662,BMG_DS036630,Genital Infantilism | Sexual Infantilism
BMGC_DS09663,BMG_DS036631,Kallmann Syndrome | Kallmann Syndrome 1 | hypogonadotropic hypogonadism 1 with or without anosmia
BMGC_DS09664,BMG_DS036632,Kallmann Syndrome | Kallmann Syndrome 2 | hypogonadotropic hypogonadism 2 with or without anosmia
BMGC_DS09665,BMG_DS036635,"Headache Disorders, Primary"
BMGC_DS09666,BMG_DS036639,Cholera Infantum | Gastrointestinal Diseases
BMGC_DS09667,BMG_DS036640,Renal Insufficiency
BMGC_DS09668,BMG_DS036641,Acute Kidney Injury | Acute Kidney Insufficiency | acute kidney failure
BMGC_DS09669,BMG_DS036642,"Direct Hyperbilirubinemia, Neonatal | Hyperbilirubinemia, Neonatal"
BMGC_DS09670,BMG_DS036643,"Hyperbilirubinemia, Neonatal | Indirect Hyperbilirubinemia, Neonatal"
BMGC_DS09671,BMG_DS036645,posterior cranial fossa meningioma | posterior fossa meningioma
BMGC_DS09672,BMG_DS036646,"Icterus Gravis Neonatorum | Jaundice, Neonatal | obsolete neonatal jaundice"
BMGC_DS09673,BMG_DS036647,"Fetal Membranes, Premature Rupture | Preterm Premature Rupture of Fetal Membranes"
BMGC_DS09674,BMG_DS036648,Multicystic Dysplastic Kidney | Unilateral Multicystic Dysplastic Kidney | unilateral multicystic dysplastic kidney
BMGC_DS09675,BMG_DS036649,"Alport Syndrome | Alport syndrome | Nephritis, Hereditary"
BMGC_DS09676,BMG_DS036650,"Alport Syndrome, X-Linked | Nephritis, Hereditary"
BMGC_DS09677,BMG_DS036651,"Alport Syndrome, Autosomal Dominant | Nephritis, Hereditary"
BMGC_DS09678,BMG_DS036652,"Alport Syndrome, Autosomal Recessive | Nephritis, Hereditary"
BMGC_DS09679,BMG_DS036653,Usher syndrome type 1
BMGC_DS09680,BMG_DS036654,"Usher Syndrome, Type III | Usher Syndromes | Usher syndrome type 2 | Usher syndrome type 3 | retinitis pigmentosa-deafness syndrome"
BMGC_DS09681,BMG_DS036655,"Usher Syndrome, Type II | Usher Syndromes | Usher syndrome type 2 | Usher syndrome type 2D | Usher syndrome type 3"
BMGC_DS09682,BMG_DS036656,Tendinopathy
BMGC_DS09683,BMG_DS036657,Tendinopathy | Tendinosis | Tendinosis (disorder) | Tendinosis (finding) | tendinosis
BMGC_DS09684,BMG_DS036658,Oral Mucositis | Stomatitis
BMGC_DS09685,BMG_DS036762,(Acidaemia: [renal] or [renotubular]) or other impaired renal function disorder NOS | (Acidaemia: [renal] or [renotubular]) or other impaired renal function disorder NOS (disorder) | (Acidemia: [renal] or [renotubular]) or other impaired renal function disorder NOS | Other impaired renal function disorder NOS | RTA - Renal tubular acidosis | Renal acidaemia | Renal acidemia | Renal tubular acidosis | Renal tubular acidosis (disorder) | Renotubular acidaemia | Renotubular acidemia
BMGC_DS09686,BMG_DS036782,(Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) (disorder) | Bacterial vaginosis | Vaginitis - non sp. | Vaginitis/vulvovaginitis | Vulvitis - non sp. | Vulvo-vaginitis | Vulvovaginitis
BMGC_DS09687,BMG_DS036785,"Congenital Hypothyroidism | Myxedema, Congenital"
BMGC_DS09688,BMG_DS036825,islet cell adenomatosis
BMGC_DS09689,BMG_DS036844,"CRF - Chronic renal failure | Chronic renal failure | Chronic renal failure syndrome | Chronic renal failure syndrome (disorder) | Chronic uraemia | Chronic uremia | Chronic uremia (disorder) | End stage renal failure | Failure, renal -chronic | Renal failure (chronic) | Renal failure - chronic | Renal failure: [chronic] or [end stage] | Renal failure: [chronic] or [end stage] (disorder) | Uraemia - chronic | Uremia - chronic"
BMGC_DS09690,BMG_DS036923,Megacystis microcolon intestinal hypoperistalsis syndrome | megacystis-microcolon-intestinal hypoperistalsis syndrome
BMGC_DS09691,BMG_DS036927,"Mycobacterium Infections, Nontuberculous | Mycobacterium abscessus Infection"
BMGC_DS09692,BMG_DS036929,BRA - Bilateral renal agenesis | Bilateral congenital absence of kidneys | Congenital absence of kidneys syndrome | Oligohydramnios sequence | Oligohydramnios sequence (disorder) | Potter syndrome | Potter's anomaly of the kidney | Renal agenesis syndrome | Renofacial syndrome | bilateral renal agenesis
BMGC_DS09693,BMG_DS036931,Latent Tuberculosis | latent tuberculosis infection
BMGC_DS09694,BMG_DS036943,Nephrogenic Fibrosing Dermopathy
BMGC_DS09695,BMG_DS036944,renal hypodysplasia/aplasia 1
BMGC_DS09696,BMG_DS036945,Decompensated cirrhosis | Decompensated cirrhosis of liver | Decompensated cirrhosis of liver (disorder)
BMGC_DS09697,BMG_DS036946,Gout flare
BMGC_DS09698,BMG_DS036953,Incomplete atrioventricular block | Incomplete atrioventricular block (disorder) | Incomplete heart block | Partial atrioventricular block | Partial atrioventricular block (disorder) | Partial heart block | Second degree heart block
BMGC_DS09699,BMG_DS036955,Adrenal hyperplasia | Adrenal hyperplasia (disorder)
BMGC_DS09700,BMG_DS036956,Intermediate Maple Syrup Urine Disease | Maple Syrup Urine Disease | intermediate maple syrup urine disease
BMGC_DS09701,BMG_DS036957,Amyloid cranial neuropathy with lattice corneal dystrophy | Finnish type amyloidosis | Meretoja syndrome | Meretoja syndrome (disorder) | Meretoja type amyloidosis
BMGC_DS09702,BMG_DS036959,"Corneal Dystrophy, Central Type | central cloudy dystrophy of François"
BMGC_DS09703,BMG_DS036963,Cirrhosis | Fibrosis
BMGC_DS09704,BMG_DS036964,Duane Retraction Syndrome | Duane-radial ray syndrome | Okihiro Syndrome
BMGC_DS09705,BMG_DS036995,"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY | catecholaminergic polymorphic ventricular tachycardia 1"
BMGC_DS09706,BMG_DS036996,Complicated appendicitis | Complicated appendicitis (disorder)
BMGC_DS09707,BMG_DS037005,"Macular dystrophy, corneal type 1 | macular corneal dystrophy"
BMGC_DS09708,BMG_DS037026,Granular corneal dystrophy type I | Granular corneal dystrophy type I (disorder) | Groenouw corneal dystrophy type I | Groenouw corneal dystrophy type I (disorder) | granular corneal dystrophy type I
BMGC_DS09709,BMG_DS037035,Ectopia Lentis with Ectopia of Pupil | ectopia lentis et pupillae | ectopia lentis with ectopia of pupil
BMGC_DS09710,BMG_DS037038,early-onset schizophrenia
BMGC_DS09711,BMG_DS037057,IFIS - intraoperative floppy iris syndrome | Intraoperative floppy iris syndrome | Intraoperative floppy iris syndrome (disorder) | intraoperative floppy iris syndrome
BMGC_DS09712,BMG_DS037063,Biber-Haab-Dimmer dystrophy | Lattice corneal dystrophy Type I | Lattice corneal dystrophy Type I (disorder) | lattice corneal dystrophy type I
BMGC_DS09713,BMG_DS037073,Macular corneal dystrophy Type II | Macular corneal dystrophy Type II (disorder)
BMGC_DS09714,BMG_DS037077,"Cystic Kidney Diseases | Kidney Diseases, Cystic"
BMGC_DS09715,BMG_DS037084,"Arthritis, Bacterial | Arthritis, Infectious | bacterial arthritis"
BMGC_DS09716,BMG_DS037088,Bacterial tonsillitis | Bacterial tonsillitis (disorder)
BMGC_DS09717,BMG_DS037092,Spontaneous hematomas
BMGC_DS09718,BMG_DS037093,BK virus nephropathy | BK-virus nephropathy | Kidney disease caused by BK polyomavirus | Nephropathy caused by BK polyomavirus | Nephropathy caused by BK polyomavirus (disorder) | Polyomavirus-associated nephropathy
BMGC_DS09719,BMG_DS037096,Bacterial otitis media | Bacterial otitis media (disorder)
BMGC_DS09720,BMG_DS037097,Bacterial otitis externa | Otitis externa caused by bacteria | Otitis externa caused by bacteria (disorder)
BMGC_DS09721,BMG_DS037099,"Pneumonia, Ventilator-Associated"
BMGC_DS09722,BMG_DS037104,neoplastic meningitis
BMGC_DS09723,BMG_DS037106,benign prostatic hyperplasia
BMGC_DS09724,BMG_DS037109,Pyomyositis | Tropical myositis | Tropical pyomyositis | Tropical pyomyositis (disorder)
BMGC_DS09725,BMG_DS037110,"Hypobetalipoproteinemia, Familial, Apolipoprotein B"
BMGC_DS09726,BMG_DS037111,Keratotic plaque | Leucokeratosis | Leukokeratosis | Leukokeratosis (disorder) | Leukokeratosis (morphologic abnormality) | Leukoplakia
BMGC_DS09727,BMG_DS037112,"Nephrosis, Lipoid | Nephrotic Syndrome, Minimal Change"
BMGC_DS09728,BMG_DS037116,Dental Diseases | Stomatognathic Diseases
BMGC_DS09729,BMG_DS037117,"Hypophosphatemic Rickets | Rickets, Hypophosphatemic | hypophosphatemic rickets"
BMGC_DS09730,BMG_DS037119,Bright Disease | Glomerulonephritis
BMGC_DS09731,BMG_DS037120,"Glomerulonephritis, Membranous | Heymann Nephritis"
BMGC_DS09732,BMG_DS037121,"Acidosis, Renal Tubular | Distal Renal Tubular Acidosis | distal renal tubular acidosis"
BMGC_DS09733,BMG_DS037123,"Hyperlipoproteinemia Type II | Hyperlipoproteinemia Type IIb | hypercholesterolemia, autosomal dominant, type B"
BMGC_DS09734,BMG_DS037125,Lymphedema | Milroy Disease | hereditary lymphedema I | lymphatic malformation 1
BMGC_DS09735,BMG_DS037126,Hereditary lymphedema type II | Hereditary lymphedema type II (disorder) | Hereditary lymphoedema type II | Meige disease | Meige lymphedema | Meige lymphoedema | hereditary lymphedema II
BMGC_DS09736,BMG_DS037128,"Hypoalphalipoproteinemia, Familial | Hypoalphalipoproteinemias"
BMGC_DS09737,BMG_DS037129,Schistosomiasis haematobia | Urinary Schistosomiasis | urinary schistosomiasis
BMGC_DS09738,BMG_DS037130,Peripheral Arterial Disease | Peripheral Arterial Diseases | peripheral arterial disease | peripheral artery disease
BMGC_DS09739,BMG_DS037133,Hyperparathyroidism-Jaw Tumor Syndrome | hyperparathyroidism 2 with jaw tumors
BMGC_DS09740,BMG_DS037141,"Pachyonychia Congenita | Pachyonychia Congenita, Jadassohn Lewandowsky Type | pachyonychia congenita | pachyonychia congenita 1"
BMGC_DS09741,BMG_DS037142,adult extraskeletal myxoid chondrosarcoma | adult myxoid chondrosarcoma
BMGC_DS09742,BMG_DS037143,aldosterone-producing adrenal cortex adenoma
BMGC_DS09743,BMG_DS037147,NUT midline carcinoma | nut midline carcinoma
BMGC_DS09744,BMG_DS037150,classic medulloblastoma
BMGC_DS09745,BMG_DS037164,hereditary diffuse gastric adenocarcinoma
BMGC_DS09746,BMG_DS037165,hereditary leiomyomatosis and renal cell cancer
BMGC_DS09747,BMG_DS037166,hereditary pheochromocytoma-paraganglioma
BMGC_DS09748,BMG_DS037168,histiocytoid cardiomyopathy
BMGC_DS09749,BMG_DS037177,lung sarcomatoid carcinoma
BMGC_DS09750,BMG_DS037185,Osteofibrous Dysplasia
BMGC_DS09751,BMG_DS037198,sinonasal undifferentiated carcinoma
BMGC_DS09752,BMG_DS037203,Familial spinal arachnoiditis | spinal arachnoiditis
BMGC_DS09753,BMG_DS037208,melanoma in congenital melanocytic nevus
BMGC_DS09754,BMG_DS037220,Acquired torsion dystonia | Acquired torsion dystonia (disorder) | acquired torsion dystonia
BMGC_DS09755,BMG_DS037224,Idiopathic transverse myelitis | Idiopathic transverse myelitis (disorder)
BMGC_DS09756,BMG_DS037249,Sepsis | Severe Sepsis
BMGC_DS09757,BMG_DS037262,Episodic ataxia type 1 | Episodic ataxia type 1 (EA1) | Episodic ataxia type 1 (disorder) | episodic ataxia type 1
BMGC_DS09758,BMG_DS037279,Meningitis caused by Aerobacter aerogenes | Meningitis caused by Enterobacter aerogenes | Meningitis caused by Klebsiella aerogenes | Meningitis caused by Klebsiella aerogenes (disorder) | Meningitis caused by Klebsiella mobilis
BMGC_DS09759,BMG_DS037284,Disorder due to type 2 diabetes mellitus | Disorder due to type 2 diabetes mellitus (disorder) | Disorder due to type II diabetes mellitus
BMGC_DS09760,BMG_DS037305,Gastrointestinal infection caused by Aerobacter aerogenes | Gastrointestinal infection caused by Enterobacter aerogenes | Gastrointestinal infection caused by Klebsiella aerogenes | Gastrointestinal infection caused by Klebsiella aerogenes (disorder) | Gastrointestinal infection caused by Klebsiella mobilis
BMGC_DS09761,BMG_DS037309,Herpes zoster with AIDS (acquired immunodeficiency syndrome) | Herpes zoster with acquired immunodeficiency syndrome | Herpes zoster with acquired immunodeficiency syndrome (disorder)
BMGC_DS09762,BMG_DS037318,Episodic Ataxia | episodic ataxia | hereditary episodic ataxia
BMGC_DS09763,BMG_DS037342,"Episodic Ataxia, Type 2 | episodic ataxia type 2"
BMGC_DS09764,BMG_DS037352,Toxoplasmosis associated with AIDS | Toxoplasmosis associated with acquired immunodeficiency syndrome | Toxoplasmosis associated with acquired immunodeficiency syndrome (disorder)
BMGC_DS09765,BMG_DS037353,Adult growth hormone deficiency | Adult growth hormone deficiency (disorder)
BMGC_DS09766,BMG_DS037381,hydrocele
BMGC_DS09767,BMG_DS037382,Hypolipoproteinemias | Hypoprebetalipoproteinemia
BMGC_DS09768,BMG_DS037383,Glomerular Necrosis | Kidney Cortex Necrosis
BMGC_DS09769,BMG_DS037385,familial apolipoprotein C-II deficiency
BMGC_DS09770,BMG_DS037386,"Meningitis, Pneumococcal | Meningitis, Pneumococcal, Recurrent"
BMGC_DS09771,BMG_DS037387,Acute Bacterial Prostatitis | Prostatitis
BMGC_DS09772,BMG_DS037388,Asymptomatic Inflammatory Prostatitis | Prostatitis
BMGC_DS09773,BMG_DS037389,Chronic Bacterial Prostatitis | Prostatitis
BMGC_DS09774,BMG_DS037390,"Refsum Disease | Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency"
BMGC_DS09775,BMG_DS037392,Endometrial Diseases | Uterine Diseases
BMGC_DS09776,BMG_DS037393,"Glomerulonephritis, Membranoproliferative | Membranoproliferative Glomerulonephritis, Type III"
BMGC_DS09777,BMG_DS037394,sudden cardiac arrest
BMGC_DS09778,BMG_DS037395,"Cystitis, Interstitial | Painful Bladder Syndrome"
BMGC_DS09779,BMG_DS037397,"Familial Partial Lipodystrophy, Type 1 | Lipodystrophy, Familial Partial | familial partial lipodystrophy | familial partial lipodystrophy type 1 | familial partial lipodystrophy, Kobberling type"
BMGC_DS09780,BMG_DS037398,"Familial Partial Lipodystrophy, Type 2 | Lipodystrophy, Familial Partial | familial partial lipodystrophy | familial partial lipodystrophy type 2 | familial partial lipodystrophy, Dunnigan type"
BMGC_DS09781,BMG_DS037399,"Familial Partial Lipodystrophy, Type 3 | Lipodystrophy, Familial Partial | PPARG-related familial partial lipodystrophy | familial partial lipodystrophy | familial partial lipodystrophy type 3"
BMGC_DS09782,BMG_DS037400,"Congenital Generalized Lipodystrophy Type 1 | Lipodystrophy, Congenital Generalized | congenital generalized lipodystrophy type 1"
BMGC_DS09783,BMG_DS037401,congenital generalized lipodystrophy type 2
BMGC_DS09784,BMG_DS037402,"Multiple Sulfatase Deficiency Disease | Sulfatidosis, Juvenile, Austin Type | mucosulfatidosis"
BMGC_DS09785,BMG_DS037403,Female Urogenital Diseases
BMGC_DS09786,BMG_DS037404,Male Urogenital Diseases
BMGC_DS09787,BMG_DS037405,"Hyper-IgM Immunodeficiency Syndrome | Hyper-IgM Immunodeficiency Syndrome, Type 2 | hyper-IgM syndrome type 2 | immunodeficiency with hyper-IgM type 2"
BMGC_DS09788,BMG_DS037406,"Hyper-IgM Immunodeficiency Syndrome | Hyper-IgM Immunodeficiency Syndrome, Type 3 | hyper-IgM syndrome type 3 | immunodeficiency with hyper IgM type 3"
BMGC_DS09789,BMG_DS037407,"Hyper-IgM Immunodeficiency Syndrome | Hyper-IgM Immunodeficiency Syndrome, Type 5 | hyper-IgM syndrome type 5 | immunodeficiency with hyper IgM type 5"
BMGC_DS09790,BMG_DS037408,"Ectodermal Dysplasia 3, Anhidrotic"
BMGC_DS09791,BMG_DS037409,Channelopathies | obsolete channelopathy
BMGC_DS09792,BMG_DS037411,"Leukokeratosis, Hereditary Mucosal | hereditary mucosal leukokeratosis | white sponge nevus"
BMGC_DS09793,BMG_DS037412,"Keratoderma, Palmoplantar, Epidermolytic | epidermolytic palmoplantar keratoderma | palmoplantar keratoderma, epidermolytic"
BMGC_DS09794,BMG_DS037413,"Pachyonychia Congenita | Pachyonychia Congenita, Type 2 | pachyonychia congenita | pachyonychia congenita 2"
BMGC_DS09795,BMG_DS037415,Opsoclonus-Myoclonus Syndrome | Paraneoplastic Opsoclonus-Myoclonus Ataxia
BMGC_DS09796,BMG_DS037417,Brugada syndrome
BMGC_DS09797,BMG_DS037418,Chronic Prostatitis with Chronic Pelvic Pain Syndrome | Prostatitis
BMGC_DS09798,BMG_DS037420,Migraine with Aura | Migraine with Typical Aura
BMGC_DS09799,BMG_DS037423,Bland White Garland Syndrome | anomalous left coronary artery from the pulmonary artery
BMGC_DS09800,BMG_DS037434,Latent Autoimmune Diabetes in Adults | latent autoimmune diabetes in adults
BMGC_DS09801,BMG_DS037436,Prostatic Hyperplasia | Prostatic Hypertrophy
BMGC_DS09802,BMG_DS037437,Angel-shaped phalango-epiphyseal dysplasia
BMGC_DS09803,BMG_DS037438,Tako-tsubo cardiomyopathy | Takotsubo Cardiomyopathy
BMGC_DS09804,BMG_DS037442,Congenital ectodermal dysplasia of face | Congenital ectodermal dysplasia of face (disorder) | focal facial dermal dysplasia type III
BMGC_DS09805,BMG_DS037446,Aspiration pneumonia | Aspiration pneumonia (disorder) | Aspiration pneumonitis | Aspiration pneumonitis (disorder) | Inhalation pneumonia | aspiration pneumonitis
BMGC_DS09806,BMG_DS037447,RAPP-HODGKIN SYNDROME | Rapp-Hodgkin syndrome | ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
BMGC_DS09807,BMG_DS037448,Idiopathic Pulmonary Fibrosis | idiopathic pulmonary fibrosis
BMGC_DS09808,BMG_DS037449,Bruch-de Lange syndrome | Congenital muscular hypertrophy-cerebral syndrome | Congenital muscular hypertrophy-cerebral syndrome (disorder) | Cornelia de Lange syndrome 2
BMGC_DS09809,BMG_DS037452,FHH - familial hypocalciuric hypercalcaemia | FHH - familial hypocalciuric hypercalcemia | Familial benign hypercalcaemia | Familial benign hypercalcemia | Familial benign hypercalcemia (disorder) | Familial hyperparathyroidism | Familial hyperparathyroidism (disorder) | Familial hypocalciuric hypercalcaemia | Familial hypocalciuric hypercalcemia | Familial hypocalciuric hypercalcemia (disorder) | familial hypocalciuric hypercalcemia
BMGC_DS09810,BMG_DS037454,(Viral exanthemata [& variants]) or (orf) or (milkers node) | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Classical smallpox | Cowpox | Fifth disease | Fourth disease | Milker's node | Milkers' node | Ordinary smallpox | Orf | Other viral exanthemata | Parascarlatina | Pseudocowpox | Roseola infantum | Smallpox | Variola major | Variola major (disorder) | variola major | variola major infectious disease
BMGC_DS09811,BMG_DS037455,"DEAFNESS, AUTOSOMAL RECESSIVE 70 | autosomal recessive nonsyndromic hearing loss 70"
BMGC_DS09812,BMG_DS037478,Decompensated chronic heart failure | Decompensated chronic heart failure (disorder)
BMGC_DS09813,BMG_DS037482,Extensively Drug-Resistant Tuberculosis | extensively drug-resistant tuberculosis
BMGC_DS09814,BMG_DS037488,Poor metabolizer due to CYP2C9 | Poor metabolizer due to cytochrome p450 CYP2C9 variant | Poor metabolizer due to cytochrome p450 CYP2C9 variant (disorder)
BMGC_DS09815,BMG_DS037492,Slow acetylator | Slow acetylator due to N-acetyltransferase enzyme variant | Slow acetylator due to N-acetyltransferase enzyme variant (disorder)
BMGC_DS09816,BMG_DS037499,Poor metabolizer due to CYP2C19 | Poor metabolizer due to cytochrome p450 CYP2C19 variant | Poor metabolizer due to cytochrome p450 CYP2C19 variant (disorder)
BMGC_DS09817,BMG_DS037525,Ultrarapid metabolizer due to CYP2D6 | Ultrarapid metabolizer due to cytochrome p450 CYP2D6 variant | Ultrarapid metabolizer due to cytochrome p450 CYP2D6 variant (disorder)
BMGC_DS09818,BMG_DS037547,Prepapillary vascular loops
BMGC_DS09819,BMG_DS037558,"Macular dystrophy, concentric annular"
BMGC_DS09820,BMG_DS037573,Poor metabolizer due to CYP2D6 | Poor metabolizer due to cytochrome p450 CYP2D6 variant | Poor metabolizer due to cytochrome p450 CYP2D6 variant (disorder)
BMGC_DS09821,BMG_DS037582,Carnitine palmitoyl transferase 1A deficiency | carnitine palmitoyl transferase 1A deficiency
BMGC_DS09822,BMG_DS037584,Wilms tumor 5
BMGC_DS09823,BMG_DS037587,"HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY | congenital hypotrichosis with juvenile macular dystrophy"
BMGC_DS09824,BMG_DS037588,"Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"
BMGC_DS09825,BMG_DS037589,DOYNE HONEYCOMB RETINAL DYSTROPHY | Doyne honeycomb retinal dystrophy
BMGC_DS09826,BMG_DS037590,"Cataract, Congenital, Cerulean Type, 2 | cataract 3 multiple types"
BMGC_DS09827,BMG_DS037591,"Deafness, Autosomal Dominant 12 | autosomal dominant nonsyndromic hearing loss 12"
BMGC_DS09828,BMG_DS037592,Peroxisome biogenesis disorders | peroxisome biogenesis disorder
BMGC_DS09829,BMG_DS037594,Athabaskan brainstem dysgenesis | human HOXA1 syndromes
BMGC_DS09830,BMG_DS037595,Bosley-Salih-Alorainy Syndrome | Bosley-Salih-Alorainy syndrome
BMGC_DS09831,BMG_DS037596,Axenfeld-Rieger syndrome type 2 | Rieger syndrome 2
BMGC_DS09832,BMG_DS037600,"Agammaglobulinemia, non-Bruton type | autosomal agammaglobulinemia"
BMGC_DS09833,BMG_DS037601,"Cardiomyopathy, Dilated, 1D | dilated cardiomyopathy 1D"
BMGC_DS09834,BMG_DS037602,"Cardiomyopathy, Dilated, 1C | dilated cardiomyopathy 1C"
BMGC_DS09835,BMG_DS037603,Ribbing disease | ribbing disease
BMGC_DS09836,BMG_DS037604,"Charcot-Marie-Tooth disease type 2D | Charcot-Marie-Tooth disease, Type 2D"
BMGC_DS09837,BMG_DS037605,"FACIAL PARESIS, HEREDITARY CONGENITAL, 1 | facial paresis, hereditary congenital, 1"
BMGC_DS09838,BMG_DS037607,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive"
BMGC_DS09839,BMG_DS037608,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D | Charcot-Marie-Tooth disease type 4D"
BMGC_DS09840,BMG_DS037612,"Deafness, Progressive, With Stapes Fixation | progressive deafness with stapes fixation"
BMGC_DS09841,BMG_DS037613,"Rhizomelic dysplasia Patterson Lowry type | Rhizomelic dysplasia of Patterson Lowry type | Rhizomelic dysplasia of Patterson Lowry type (disorder) | rhizomelic dysplasia, Patterson-Lowry type"
BMGC_DS09842,BMG_DS037614,"Jung Wolff Back Stahl syndrome | anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis"
BMGC_DS09843,BMG_DS037616,"MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | myofibrillar myopathy 1"
BMGC_DS09844,BMG_DS037617,Retinitis Pigmentosa 18 | retinitis pigmentosa 18
BMGC_DS09845,BMG_DS037618,"Deafness, Autosomal Dominant 7 | autosomal dominant nonsyndromic hearing loss 7"
BMGC_DS09846,BMG_DS037619,"Diabetes Mellitus, Transient Neonatal, 1 | diabetes mellitus, transient neonatal, 1"
BMGC_DS09847,BMG_DS037621,"Platelet Disorder, Familial, with Associated Myeloid Malignancy | hereditary thrombocytopenia and hematologic cancer predisposition syndrome | hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1"
BMGC_DS09848,BMG_DS037622,Van Maldergem Wetzburger Verloes syndrome | Van Maldergem syndrome | van Maldergem syndrome
BMGC_DS09849,BMG_DS037623,"Cervical ribs sprengel anomaly anal atresia urethral obstruction | cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction"
BMGC_DS09850,BMG_DS037624,"DIABETES MELLITUS, INSULIN-DEPENDENT, 12 | type 1 diabetes mellitus 12"
BMGC_DS09851,BMG_DS037625,"Deafness, Autosomal Recessive 12 | autosomal recessive nonsyndromic hearing loss 12"
BMGC_DS09852,BMG_DS037626,"Charcot-Marie-Tooth disease type 4B1 | Charcot-Marie-Tooth disease, Type 4B1"
BMGC_DS09853,BMG_DS037627,Hunter-McAlpine craniosynostosis | Hunter-McAlpine craniosynostosis syndrome
BMGC_DS09854,BMG_DS037628,Ciliary neurotrophic factor receptor-related disorder | Cold-induced sweating syndrome | Cold-induced sweating syndrome (disorder) | Crisponi syndrome | Crisponi syndrome (disorder) | Sohar-Crisponi syndrome | cold-induced sweating syndrome
BMGC_DS09855,BMG_DS037631,Aprosencephaly and Cerebellar Dysgenesis | aprosencephaly cerebellar dysgenesis
BMGC_DS09856,BMG_DS037633,early-onset non-syndromic cataract
BMGC_DS09857,BMG_DS037634,Camero Lituania Cohen syndrome | Genoa syndrome | Holoprosencephaly craniosynostosis syndrome | Holoprosencephaly craniosynostosis syndrome (disorder) | holoprosencephaly-craniosynostosis syndrome
BMGC_DS09858,BMG_DS037635,"Deafness, Autosomal Dominant 9 | autosomal dominant nonsyndromic hearing loss 9"
BMGC_DS09859,BMG_DS037636,Wilms tumor 4
BMGC_DS09860,BMG_DS037637,Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 | distal monosomy 10p
BMGC_DS09861,BMG_DS037638,"Amelia, Autosomal Recessive | autosomal recessive amelia"
BMGC_DS09862,BMG_DS037640,Yim Ebbin syndrome | amelia cleft lip palate hydrocephalus iris coloboma
BMGC_DS09863,BMG_DS037641,"Short limb dwarfism Al Gazali type | lethal short-limb skeletal dysplasia, Al Gazali type"
BMGC_DS09864,BMG_DS037642,"Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs | microcephaly-cardiac defect-lung malsegmentation syndrome"
BMGC_DS09865,BMG_DS037643,"Mental Retardation, Microcephaly, Epilepsy, And Coarse Face | epilepsy-microcephaly-skeletal dysplasia syndrome"
BMGC_DS09866,BMG_DS037646,"MICROPHTHALMIA, SYNDROMIC 8 | MMEP syndrome | syndromic microphthalmia 8"
BMGC_DS09867,BMG_DS037649,Martinez-Frias Syndrome | Martinez-Frias syndrome
BMGC_DS09868,BMG_DS037650,"Ectodermal Dysplasia with Natal Teeth, Turnpenny Type | ectodermal dysplasia with natal teeth, Turnpenny type"
BMGC_DS09869,BMG_DS037651,"Spinal Dysplasia, Anhalt Type | spinal dysplasia, Anhalt type"
BMGC_DS09870,BMG_DS037652,"Atrophia Maculosa Varioliformis Cutis, Familial | atrophia maculosa varioliformis cutis, familial"
BMGC_DS09871,BMG_DS037653,CAPOS syndrome | cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
BMGC_DS09872,BMG_DS037655,Porencephaly cerebellar hypoplasia malformations | porencephaly-cerebellar hypoplasia-internal malformations syndrome
BMGC_DS09873,BMG_DS037656,Odontomicronychial dysplasia | odontomicronychial dysplasia
BMGC_DS09874,BMG_DS037658,"Deafness, Autosomal Dominant 11 | autosomal dominant nonsyndromic hearing loss 11"
BMGC_DS09875,BMG_DS037659,"Deafness, Autosomal Dominant 10 | autosomal dominant nonsyndromic hearing loss 10"
BMGC_DS09876,BMG_DS037662,Limb-girdle muscular dystrophy type 2F | autosomal recessive limb-girdle muscular dystrophy type 2F
BMGC_DS09877,BMG_DS037664,"Diabetes Mellitus, Noninsulin-Dependent, 1 | diabetes mellitus, noninsulin-dependent, 1"
BMGC_DS09878,BMG_DS037665,autosomal recessive congenital ichthyosis 4A
BMGC_DS09879,BMG_DS037666,Rippling Muscle Disease 2 | rippling muscle disease 1 | rippling muscle disease 2
BMGC_DS09880,BMG_DS037667,"CEREBELLAR ATAXIA, CAYMAN TYPE | Cayman type cerebellar ataxia"
BMGC_DS09881,BMG_DS037668,"DERMATITIS HERPETIFORMIS, FAMILIAL | dermatitis herpetiformis, familial"
BMGC_DS09882,BMG_DS037669,"POLYPOSIS SYNDROME, HEREDITARY MIXED, 1 | hereditary mixed polyposis syndrome 1 | polyposis syndrome, hereditary mixed, 1"
BMGC_DS09883,BMG_DS037670,Chromosome 11p11.2 Deletion Syndrome | Potocki-Shaffer syndrome
BMGC_DS09884,BMG_DS037671,"Neuronal Intestinal Dysplasia, Type B | neuronal intestinal dysplasia, type B"
BMGC_DS09885,BMG_DS037675,Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome | Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | Brachyolmia and amelogenesis imperfecta syndrome | Platyspondyly amelogenesis imperfecta | Verloes Bourguignon syndrome | brachyolmia-amelogenesis imperfecta syndrome
BMGC_DS09886,BMG_DS037676,Keratoderma with woolly hair type I | Keratoderma with wooly hair type I | Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome | Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) | Naxos disease | Palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy
BMGC_DS09887,BMG_DS037678,Anterior polar cataract 2 | cataract 24
BMGC_DS09888,BMG_DS037680,"Hypocalcemia, Autosomal Dominant, with Bartter Syndrome"
BMGC_DS09889,BMG_DS037681,"HYPERPARATHYROIDISM, NEONATAL SEVERE | neonatal severe primary hyperparathyroidism"
BMGC_DS09890,BMG_DS037682,Hypoparathyroidism familial isolated | familial hypoparathyroidism
BMGC_DS09891,BMG_DS037683,Anophthalmia with pulmonary hypoplasia | Matthew-Wood syndrome | syndromic microphthalmia 9
BMGC_DS09892,BMG_DS037684,"myocardial infarction, susceptibility to"
BMGC_DS09893,BMG_DS037686,"Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull | diaphragmatic defect-limb deficiency-skull defect syndrome"
BMGC_DS09894,BMG_DS037687,"Spastic paraplegia 9, autosomal dominant | autosomal dominant spastic paraplegia type 9"
BMGC_DS09895,BMG_DS037690,"CARDIOMYOPATHY, DILATED, 1E | dilated cardiomyopathy 1E"
BMGC_DS09896,BMG_DS037691,brachydactyly type A2
BMGC_DS09897,BMG_DS037692,MULTIPLE SYNOSTOSES SYNDROME 2 | multiple synostoses syndrome 2
BMGC_DS09898,BMG_DS037693,Fallot complex with severe mental and growth retardation | fallot complex-intellectual disability-growth delay syndrome
BMGC_DS09899,BMG_DS037694,"ALG3-congenital disorder of glycosylation | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | congenital disorder of glycosylation Id"
BMGC_DS09900,BMG_DS037697,"Ayme-Gripp syndrome | Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation"
BMGC_DS09901,BMG_DS037698,"Laterality Defects, Autosomal Dominant | laterality defects, autosomal dominant"
BMGC_DS09902,BMG_DS037699,"Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction | aplasia cutis-myopia syndrome"
BMGC_DS09903,BMG_DS037700,"DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 | autosomal recessive nonsyndromic hearing loss 8"
BMGC_DS09904,BMG_DS037701,"Deafness, Autosomal Recessive 9 | autosomal recessive nonsyndromic hearing loss 9"
BMGC_DS09905,BMG_DS037703,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 | epilepsy, familial adult myoclonic, 1 | familial adult myoclonic epilepsy 1"
BMGC_DS09906,BMG_DS037704,"USHER SYNDROME, TYPE ID | Usher syndrome type 1D"
BMGC_DS09907,BMG_DS037705,"CHOREOATHETOSIS/SPASTICITY, EPISODIC | dystonia 9"
BMGC_DS09908,BMG_DS037706,Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin | ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin
BMGC_DS09909,BMG_DS037709,"Hemiplegic migraine, familial type 1 | migraine, familial hemiplegic, 1"
BMGC_DS09910,BMG_DS037710,"MIGRAINE, SPORADIC HEMIPLEGIC | familial hemiplegic migraine 1 | sporadic hemiplegic migraine"
BMGC_DS09911,BMG_DS037711,Long QT syndrome type 8 | Timothy syndrome | Timothy syndrome (disorder)
BMGC_DS09912,BMG_DS037712,"Portal Vein, Cavernous Transformation Of | portal vein, cavernous transformation of"
BMGC_DS09913,BMG_DS037713,Brody disease | Brody myopathy | Brody myopathy (disorder)
BMGC_DS09914,BMG_DS037714,"Epidermolysis Bullosa Simplex, Autosomal Recessive"
BMGC_DS09915,BMG_DS037715,"Deafness, Autosomal Dominant 5 | autosomal dominant nonsyndromic hearing loss 5"
BMGC_DS09916,BMG_DS037716,JUVENILE POLYPOSIS OF STOMACH
BMGC_DS09917,BMG_DS037717,Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia | juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
BMGC_DS09918,BMG_DS037719,Infundibulopelvic dysgenesis | Infundibulopelvic stenosis multicystic kidney syndrome | Infundibulopelvic stenosis multicystic kidney syndrome (disorder) | infundibulopelvic stenosis-multicystic kidney syndrome
BMGC_DS09919,BMG_DS037720,"Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies | cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | cleft palate, cardiac defects, and intellectual disabillity"
BMGC_DS09920,BMG_DS037721,Cone-Rod Dystrophy 5 | cone-rod dystrophy 5
BMGC_DS09921,BMG_DS037722,"GLAUCOMA 3, PRIMARY INFANTILE, B | glaucoma 3, primary infantile, B"
BMGC_DS09922,BMG_DS037723,"Deafness, Autosomal Recessive 7 | autosomal recessive nonsyndromic hearing loss 7"
BMGC_DS09923,BMG_DS037724,"DEAFNESS, AUTOSOMAL RECESSIVE 6 | autosomal recessive nonsyndromic hearing loss 6"
BMGC_DS09924,BMG_DS037725,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 | epiphyseal dysplasia, multiple, 3 | multiple epiphyseal dysplasia 3"
BMGC_DS09925,BMG_DS037726,"DEAFNESS, AUTOSOMAL DOMINANT 6 | autosomal dominant nonsyndromic hearing loss 6"
BMGC_DS09926,BMG_DS037728,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC | diffuse nonepidermolytic palmoplantar keratoderma | nonepidermolytic palmoplantar keratoderma"
BMGC_DS09927,BMG_DS037729,Proprotein Convertase 1 3 Deficiency | obesity due to prohormone convertase I deficiency | proprotein convertase 1/3 deficiency
BMGC_DS09928,BMG_DS037730,permanent neonatal diabetes mellitus
BMGC_DS09929,BMG_DS037732,pulverulent cataract
BMGC_DS09930,BMG_DS037733,Marden Walker like syndrome | Van den Ende-Gupta syndrome | Van den Ende-Gupta syndrome (disorder) | van den Ende-Gupta syndrome
BMGC_DS09931,BMG_DS037734,Long Qt Syndrome 4 | long QT syndrome 4
BMGC_DS09932,BMG_DS037738,"Hyperferritinemia, hereditary, with congenital cataracts | hereditary hyperferritinemia with congenital cataracts | hyperferritinemia-cataract syndrome"
BMGC_DS09933,BMG_DS037740,"Charcot-Marie-Tooth disease type 2B | Charcot-Marie-Tooth disease, Type 2B"
BMGC_DS09934,BMG_DS037741,"Cataract, Congenital Zonular, with Sutural Opacities | cataract 10 multiple types"
BMGC_DS09935,BMG_DS037742,"Cardiomyopathy, Familial Hypertrophic, 6 | hypertrophic cardiomyopathy 6"
BMGC_DS09936,BMG_DS037743,Retinitis Pigmentosa 17 | retinitis pigmentosa 17
BMGC_DS09937,BMG_DS037745,SCHIZOPHRENIA 4 | schizophrenia 4
BMGC_DS09938,BMG_DS037746,"Enuresis, Nocturnal, 2 | nocturnal enuresis, 2"
BMGC_DS09939,BMG_DS037747,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative | T-B+ severe combined immunodeficiency due to JAK3 deficiency"
BMGC_DS09940,BMG_DS037749,"FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED | frontotemporal dementia and/or amyotrophic lateral sclerosis 7"
BMGC_DS09941,BMG_DS037750,"autosomal dominant distal hereditary motor neuronopathy 5 | neuronopathy, distal hereditary motor, type 5"
BMGC_DS09942,BMG_DS037751,"Deafness, Autosomal Recessive 5 | autosomal recessive nonsyndromic hearing loss 5"
BMGC_DS09943,BMG_DS037752,"CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL | progressive bifocal chorioretinal atrophy"
BMGC_DS09944,BMG_DS037753,Anophthalmia plus syndrome | Anophthalmia plus syndrome (disorder) | Fryns microphthalmia syndrome | anophthalmia plus syndrome
BMGC_DS09945,BMG_DS037754,Craniosynostoses | Synostotic Posterior Plagiocephaly | craniosynostosis 4
BMGC_DS09946,BMG_DS037756,OROFACIAL CLEFT 3 | orofacial cleft 3
BMGC_DS09947,BMG_DS037757,"HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III | familial hypocalciuric hypercalcemia 3"
BMGC_DS09948,BMG_DS037758,"GNE myopathy | Inclusion Body Myopathy, Autosomal Recessive"
BMGC_DS09949,BMG_DS037760,"Maturity-Onset Diabetes of the Young, Type 4 | maturity-onset diabetes of the young type 4"
BMGC_DS09950,BMG_DS037761,2-hydroxyglutaric aciduria | D-2(OH) glutaric aciduria | D-2-hydroxyglutaric aciduria | D-2-hydroxyglutaric aciduria (disorder)
BMGC_DS09951,BMG_DS037762,Proximal Myopathy with Focal Depletion of Mitochondria | proximal myopathy with focal depletion of mitochondria
BMGC_DS09952,BMG_DS037763,Komuragaeri disease | Satoyoshi syndrome | Satoyoshi syndrome (disorder)
BMGC_DS09953,BMG_DS037765,"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 | Lynch syndrome 5 | hereditary nonpolyposis colorectal cancer type 5"
BMGC_DS09954,BMG_DS037766,Microtia-Anotia | microtia
BMGC_DS09955,BMG_DS037767,"Varicella, Severe Recurrent | varicella, severe recurrent"
BMGC_DS09956,BMG_DS037768,Chondrocalcinosis 1 | chondrocalcinosis 1
BMGC_DS09957,BMG_DS037769,"Deafness, Autosomal Dominant 4 | autosomal dominant nonsyndromic hearing loss 4A"
BMGC_DS09958,BMG_DS037770,"carnitine palmitoyl transferase II deficiency, myopathic form"
BMGC_DS09959,BMG_DS037771,"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | carnitine palmitoyl transferase II deficiency, severe infantile form"
BMGC_DS09960,BMG_DS037772,"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | carnitine palmitoyl transferase II deficiency, neonatal form"
BMGC_DS09961,BMG_DS037773,OROFACIAL CLEFT 7 | cleft lip-palate-ectodermal dysplasia syndrome | orofacial cleft 7
BMGC_DS09962,BMG_DS037775,UV-Sensitive Syndrome | UV-sensitive syndrome
BMGC_DS09963,BMG_DS037777,Cone-Rod Dystrophy 1 | cone-rod dystrophy 1
BMGC_DS09964,BMG_DS037779,"Craniosynostosis, Adelaide Type | craniosynostosis, Adelaide type"
BMGC_DS09965,BMG_DS037780,"Spondyloepiphyseal Dysplasia with Atlantoaxial Instability | spondyloepiphyseal dysplasia, Reardon type"
BMGC_DS09966,BMG_DS037781,"HEC syndrome | Hydrocephalus, endocardial fibroelastosis, and cataracts"
BMGC_DS09967,BMG_DS037782,PAROXYSMAL EXTREME PAIN DISORDER | paroxysmal extreme pain disorder
BMGC_DS09968,BMG_DS037783,inclusion body myopathy with Paget disease of bone and frontotemporal dementia
BMGC_DS09969,BMG_DS037784,Epiphyseal stippling with osteoclastic hyperplasia syndrome | Pacman dysplasia | Pacman dysplasia (disorder) | pacman dysplasia
BMGC_DS09970,BMG_DS037785,"nephrolithiasis, calcium oxalate"
BMGC_DS09971,BMG_DS037786,"Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension | osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension"
BMGC_DS09972,BMG_DS037787,"Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis | ovalocytosis, hereditary hemolytic, with defective erythropoiesis"
BMGC_DS09973,BMG_DS037789,Otofaciocervical Syndrome | otofaciocervical syndrome
BMGC_DS09974,BMG_DS037790,"otitis media, susceptibility to"
BMGC_DS09975,BMG_DS037791,Otodental Dysplasia | otodental syndrome
BMGC_DS09976,BMG_DS037792,Osteosclerosis with Ichthyosis and Fractures | osteosclerosis with ichthyosis and fractures
BMGC_DS09977,BMG_DS037793,Osteopoikilosis and dacryocystitis | dacryocystitis-osteopoikilosis syndrome
BMGC_DS09978,BMG_DS037794,"Osteopoikilosis, Isolated | isolated osteopoikilosis"
BMGC_DS09979,BMG_DS037797,Osteomas Of Mandible | osteomas of mandible
BMGC_DS09980,BMG_DS037798,"Osteogenesis imperfecta, Levin type | gnathodiaphyseal dysplasia"
BMGC_DS09981,BMG_DS037800,"Ossicular Malformations, familial | ossicular malformations, familial"
BMGC_DS09982,BMG_DS037801,Ossified Ear Cartilages | ossified ear cartilages
BMGC_DS09983,BMG_DS037802,OSLAM syndrome | Oslam syndrome
BMGC_DS09984,BMG_DS037803,"Orbital Margin, Hypoplasia of | syndromic orbital border hypoplasia"
BMGC_DS09985,BMG_DS037804,Orofaciodigital Syndrome X | orofaciodigital syndrome X
BMGC_DS09986,BMG_DS037805,"Optic Nerve Hypoplasia, Bilateral | isolated optic nerve hypoplasia"
BMGC_DS09987,BMG_DS037806,"Optic Nerve Aplasia, Bilateral"
BMGC_DS09988,BMG_DS037808,"OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT | optic atrophy 3"
BMGC_DS09989,BMG_DS037810,"Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant | optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant"
BMGC_DS09990,BMG_DS037811,"Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency | ophthalmoplegia-intellectual disability-lingua scrotalis syndrome"
BMGC_DS09991,BMG_DS037812,"Ophthalmoplegia, Familial Total, with Iris Transillumination | ophthalmoplegia, familial total, with iris transillumination"
BMGC_DS09992,BMG_DS037813,"Ophthalmoplegia, Familial Static | ophthalmoplegia, familial static"
BMGC_DS09993,BMG_DS037814,Ophthalmomandibulomelic Dysplasia | ophthalmomandibulomelic dysplasia
BMGC_DS09994,BMG_DS037815,"Onycholysis, Partial, with Scleronychia | nonsyndromic congenital nail disorder 5"
BMGC_DS09995,BMG_DS037816,familial medullary thyroid carcinoma
BMGC_DS09996,BMG_DS037820,Oculopharyngodistal Myopathy | oculopharyngodistal myopathy
BMGC_DS09997,BMG_DS037821,Schilbach-Rott syndrome
BMGC_DS09998,BMG_DS037823,"Hereditary vertical nystagmus | nystagmus, hereditary vertical"
BMGC_DS09999,BMG_DS037824,"Nystagmus 2, congenital, autosomal dominant | nystagmus 2, congenital, autosomal dominant"
BMGC_DS10000,BMG_DS037826,Noonan like syndrome
BMGC_DS10001,BMG_DS037827,"Noduli Cutanei, Multiple, with Urinary Tract Abnormalities | noduli Cutanei, multiple, with urinary tract abnormalities"
BMGC_DS10002,BMG_DS037828,"Sick Sinus Syndrome 2, Autosomal Dominant | sick sinus syndrome 2, autosomal dominant"
BMGC_DS10003,BMG_DS037829,Hypertension Resistant to Conventional Therapy
BMGC_DS10004,BMG_DS037832,"Neuropathy, congenital, with arthrogryposis multiplex | neuropathy, congenital, with arthrogryposis multiplex"
BMGC_DS10005,BMG_DS037833,"Ceroid Lipofuscinosis, Neuronal, Parry Type | Neuronal Ceroid-Lipofuscinoses | ceroid lipofuscinosis, neuronal, 4 (Kufs type)"
BMGC_DS10006,BMG_DS037837,"NEUROFIBROMATOSIS, FAMILIAL SPINAL | neurofibromatosis, familial spinal | spinal neurofibromatosis"
BMGC_DS10007,BMG_DS037838,"AMYOTROPHY, HEREDITARY NEURALGIC | amyotrophic neuralgia"
BMGC_DS10008,BMG_DS037839,RETINITIS PIGMENTOSA 27 | retinitis pigmentosa 27
BMGC_DS10009,BMG_DS037840,"Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type"
BMGC_DS10010,BMG_DS037841,Van der Woude syndrome
BMGC_DS10011,BMG_DS037842,"Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult | necrotizing encephalomyelopathy, subacute, of Leigh, adult"
BMGC_DS10012,BMG_DS037843,"NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE | nasal hyperpigmentation, familial transverse"
BMGC_DS10013,BMG_DS037844,"NASAL GROOVE, FAMILIAL TRANSVERSE | nasal groove, familial transverse"
BMGC_DS10014,BMG_DS037845,"Nasal Alar Collapse, Bilateral | nasal alar collapse, bilateral"
BMGC_DS10015,BMG_DS037846,Narcolepsy 1 | narcolepsy 1
BMGC_DS10016,BMG_DS037850,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 | hypertrophic cardiomyopathy 10"
BMGC_DS10017,BMG_DS037851,"CARDIOMYOPATHY, DILATED, 1S | dilated cardiomyopathy 1S"
BMGC_DS10018,BMG_DS037852,Sheldon-hall syndrome
BMGC_DS10019,BMG_DS037853,"Myopia 2 | myopia 2, autosomal dominant"
BMGC_DS10020,BMG_DS037854,Myopathy with Storage of Glycoproteins and Glycosaminoglycans | myopathy with storage of glycoproteins and Glycosaminoglycans
BMGC_DS10021,BMG_DS037856,"Myopathies, Structural, Congenital | Myopathy, Centronuclear, Autosomal Dominant | autosomal dominant centronuclear myopathy"
BMGC_DS10022,BMG_DS037857,"Continuous Muscle Fiber Activity, Hereditary | hereditary continuous muscle fiber activity"
BMGC_DS10023,BMG_DS037858,"Myoglobinuria, Autosomal Dominant | autosomal dominant myoglobinuria"
BMGC_DS10024,BMG_DS037859,Jankovic Rivera syndrome | spinal muscular atrophy with progressive myoclonic epilepsy | spinal muscular atrophy-progressive myoclonic epilepsy syndrome
BMGC_DS10025,BMG_DS037860,Myoclonic dystonia | Myoclonic dystonia (disorder) | myoclonic dystonia | myoclonic dystonia 11 | myoclonus-dystonia syndrome
BMGC_DS10026,BMG_DS037861,"Myoclonus, Cerebellar Ataxia, and Deafness | myoclonus-cerebellar ataxia-deafness syndrome"
BMGC_DS10027,BMG_DS037863,"Myoclonic Epilepsy, Hartung Type | myoclonic epilepsy, Hartung type"
BMGC_DS10028,BMG_DS037864,transient myeloproliferative syndrome
BMGC_DS10029,BMG_DS037865,myelinated optic nerve fibers
BMGC_DS10030,BMG_DS037866,"Myasthenia, Limb-Girdle, Autoimmune | myasthenia, limb-girdle, autoimmune"
BMGC_DS10031,BMG_DS037868,"Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries | muscular dystrophy, pseudohypertrophic, with Internalized capillaries"
BMGC_DS10032,BMG_DS037870,"Muscular dystrophy, limb-girdle, type 1A"
BMGC_DS10033,BMG_DS037871,facioscapulohumeral muscular dystrophy 2
BMGC_DS10034,BMG_DS037872,Facioscapulohumeral muscular dystrophy 1a
BMGC_DS10035,BMG_DS037873,BETHLEM MYOPATHY 1 | Bethlem myopathy
BMGC_DS10036,BMG_DS037874,"Muscular Dystrophy, Barnes Type | muscular dystrophy, Barnes type"
BMGC_DS10037,BMG_DS037875,"Muscular Atrophy, Malignant Neurogenic | muscular atrophy, malignant neurogenic"
BMGC_DS10038,BMG_DS037876,"Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | autosomal dominant childhood-onset proximal spinal muscular atrophy"
BMGC_DS10039,BMG_DS037877,"neuronopathy, distal hereditary motor, type 2A"
BMGC_DS10040,BMG_DS037878,"Neuropathy, Distal Hereditary Motor, Type VIIA | neuronopathy, distal hereditary motor, type 7A"
BMGC_DS10041,BMG_DS037879,"Muscle Cramps, Familial | muscle cramps, familial"
BMGC_DS10042,BMG_DS037880,CEREBELLOPARENCHYMAL DISORDER VI
BMGC_DS10043,BMG_DS037883,Multiple Exostoses with Spastic Tetraparesis | multiple exostoses with spastic tetraparesis
BMGC_DS10044,BMG_DS037884,NONDISJUNCTION | nondisjunction
BMGC_DS10045,BMG_DS037885,"CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV"
BMGC_DS10046,BMG_DS037886,Monophalangy of Great Toe | Monophalangy of great toe
BMGC_DS10047,BMG_DS037889,MOMO syndrome | Macrosomia obesity macrocephaly ocular abnormalities
BMGC_DS10048,BMG_DS037890,MVP1 | MYXOMATOUS MITRAL VALVE PROLAPSE 1
BMGC_DS10049,BMG_DS037891,METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS | metaphyseal dysplasia without hypotrichosis
BMGC_DS10050,BMG_DS037892,"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"
BMGC_DS10051,BMG_DS037894,mirror movements 1
BMGC_DS10052,BMG_DS037896,Holoprosencephaly 2 | holoprosencephaly 2
BMGC_DS10053,BMG_DS037899,"Microphthalmia, Isolated, With Corectopia | microphthalmia, isolated, with corectopia"
BMGC_DS10054,BMG_DS037900,"Microphthalmia, Isolated, with Cataract 1 | microphthalmia, isolated, with cataract 1"
BMGC_DS10055,BMG_DS037901,Cloverleaf skull micromelia thoracic dysplasia | micromelic bone dysplasia with cloverleaf skull
BMGC_DS10056,BMG_DS037903,"Microcornea, glaucoma, and absent frontal sinuses | microcornea-glaucoma-absent frontal sinuses syndrome"
BMGC_DS10057,BMG_DS037904,"Metatarsus Varus, Type I | metatarsus varus, type 1"
BMGC_DS10058,BMG_DS037905,Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
BMGC_DS10059,BMG_DS037908,"MESOMELIC DYSPLASIA, KANTAPUTRA TYPE | mesomelic dysplasia, Kantaputra type"
BMGC_DS10060,BMG_DS037910,"Meralgia Paraesthetica, Familial | meralgia paraesthetica, familial"
BMGC_DS10061,BMG_DS037911,Mental and Growth Retardation with Amblyopia | mental and growth retardation with amblyopia
BMGC_DS10062,BMG_DS037912,"Membranous Cranial Ossification, Delayed | delayed membranous cranial ossification"
BMGC_DS10063,BMG_DS037915,melanoma and neural system tumor syndrome
BMGC_DS10064,BMG_DS037916,"melanoma, malignant familial intraocular"
BMGC_DS10065,BMG_DS037917,"melanoma, cutaneous malignant, susceptibility to, 2"
BMGC_DS10066,BMG_DS037918,"melanoma, cutaneous malignant, susceptibility to, 1"
BMGC_DS10067,BMG_DS037920,mediosternal depigmentation line
BMGC_DS10068,BMG_DS037922,"Median cleft lip, corpus callosum, lipoma, and skin polyps | Pai syndrome"
BMGC_DS10069,BMG_DS037923,Maxillofacial Dysostosis | maxillofacial dysostosis
BMGC_DS10070,BMG_DS037926,"Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type | mannose 6-phosphate receptor recognition defect, Lebanese type"
BMGC_DS10071,BMG_DS037927,malocclusion due to protuberant upper front teeth
BMGC_DS10072,BMG_DS037930,"Hypomagnesemia 2, renal | renal hypomagnesemia 2"
BMGC_DS10073,BMG_DS037932,"Macular Dystrophy, Fenestrated Sheen Type | macular dystrophy, fenestrated sheen type"
BMGC_DS10074,BMG_DS037933,"MACULAR DYSTROPHY, ATYPICAL VITELLIFORM"
BMGC_DS10075,BMG_DS037934,"MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 | macroglobulinemia, Waldenstrom, 1"
BMGC_DS10076,BMG_DS037935,"psoriatic arthritis, susceptibility to"
BMGC_DS10077,BMG_DS037936,"Lymphedema, microcephaly and chorioretinopathy syndrome | microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | microcephaly with or without chorioretinopathy, lymphedema, or mental retardation"
BMGC_DS10078,BMG_DS037937,Lymphedema and Cerebral Arteriovenous Anomaly | lymphedema-cerebral arteriovenous anomaly syndrome
BMGC_DS10079,BMG_DS037939,"Lumbar Stenosis, Familial | lumbar stenosis, familial"
BMGC_DS10080,BMG_DS037941,lithium transport
BMGC_DS10081,BMG_DS037945,"Lp(A) Deficiency, Congenital"
BMGC_DS10082,BMG_DS037947,lipoma of the conjunctiva
BMGC_DS10083,BMG_DS037948,"Lip, Hamartomatous | lip, hamartomatous"
BMGC_DS10084,BMG_DS037949,Median nodule of upper lip | Median nodule of upper lip (disorder) | median nodule of the upper lip
BMGC_DS10085,BMG_DS037950,LI-FRAUMENI SYNDROME 1
BMGC_DS10086,BMG_DS037951,"Lichen Planus, Familial | lichen planus, familial"
BMGC_DS10087,BMG_DS037952,Levator-Medial Rectus Synkinesis | levator-medial rectus synkinesis
BMGC_DS10088,BMG_DS037953,"Leukocyte Nuclear Appendages, Hereditary Prevalence of | leukocyte nuclear appendages, hereditary prevalence of"
BMGC_DS10089,BMG_DS037954,"hepatitis C virus, susceptibility to"
BMGC_DS10090,BMG_DS037955,"Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | Torrance type platyspondylic dysplasia | platyspondylic dysplasia, Torrance type"
BMGC_DS10091,BMG_DS037956,Leri pleonosteosis
BMGC_DS10092,BMG_DS037957,"Lentiginosis, Centrofacial Neurodysraphic | lentiginosis, centrofacial neurodysraphic"
BMGC_DS10093,BMG_DS037958,leiomyoma of vulva and esophagus
BMGC_DS10094,BMG_DS037961,"Tooth Agenesis, Selective, 4 | tooth agenesis, selective, 4"
BMGC_DS10095,BMG_DS037962,"Succedaneous Teeth, Agenesis Of"
BMGC_DS10096,BMG_DS037964,"Lactic Acidosis, Chronic Adult Form | lactic acidosis, chronic adult form"
BMGC_DS10097,BMG_DS037965,familial congenital nasolacrimal duct obstruction
BMGC_DS10098,BMG_DS037966,"labia minora, incomplete adhesion of"
BMGC_DS10099,BMG_DS037967,hereditary hyperekplexia
BMGC_DS10100,BMG_DS037968,Keratosis focal palmoplantar gingival | focal palmoplantar and gingival keratoderma | focal palmoplantar and gingival keratosis
BMGC_DS10101,BMG_DS037969,Keratosis palmoplantaris papulosa | punctate palmoplantar keratoderma type 1
BMGC_DS10102,BMG_DS037970,Keratosis Palmaris et Plantaris with Clinodactyly | keratosis palmaris et plantaris-clinodactyly syndrome
BMGC_DS10103,BMG_DS037971,palmoplantar keratoderma-esophageal carcinoma syndrome
BMGC_DS10104,BMG_DS037972,Keratoderma palmoplantar spastic paralysis | palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
BMGC_DS10105,BMG_DS037973,Palmoplantar Keratoderma with Deafness | palmoplantar keratoderma-deafness syndrome
BMGC_DS10106,BMG_DS037974,Keratoconus 1 | keratoconus 1
BMGC_DS10107,BMG_DS037975,Keratitis Fugax Hereditaria | keratitis fugax hereditaria
BMGC_DS10108,BMG_DS037976,"Keratitis, hereditary | autosomal dominant keratitis"
BMGC_DS10109,BMG_DS037977,"cirrhosis, noncryptogenic, susceptibility to"
BMGC_DS10110,BMG_DS037980,"kallikrein, decreased urinary activity of"
BMGC_DS10111,BMG_DS037981,Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency | body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
BMGC_DS10112,BMG_DS037982,"Mitral Valve Prolapse, Myxomatous 3 | mitral valve prolapse, myxomatous 3"
BMGC_DS10113,BMG_DS037984,"FANCONI ANEMIA, COMPLEMENTATION GROUP N | Fanconi anemia complementation group N"
BMGC_DS10114,BMG_DS037986,Holoprosencephaly 9 | holoprosencephaly 9
BMGC_DS10115,BMG_DS037987,HOLOPROSENCEPHALY 7 | holoprosencephaly 7
BMGC_DS10116,BMG_DS037988,congenital anomalies of kidney and urinary tract 1
BMGC_DS10117,BMG_DS037989,Immunodeficiency due to Defect in MAPBP-Interacting Protein | primary immunodeficiency syndrome due to p14 deficiency
BMGC_DS10118,BMG_DS037990,"Epiphyseal Dysplasia, Baumann Type | epiphyseal dysplasia, Baumann type"
BMGC_DS10119,BMG_DS037991,Mitochondrial Phosphate Carrier Deficiency | cardiomyopathy-hypotonia-lactic acidosis syndrome
BMGC_DS10120,BMG_DS037992,"Congenital Disorder Of Glycosylation, Type Im | DK1-congenital disorder of glycosylation"
BMGC_DS10121,BMG_DS037993,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 | autosomal recessive congenital ichthyosis 11"
BMGC_DS10122,BMG_DS037994,Alopecia-Mental Retardation Syndrome 2 | alopecia-intellectual disability syndrome 2 | alopecia-mental retardation syndrome 2
BMGC_DS10123,BMG_DS037995,"DEAFNESS, AUTOSOMAL RECESSIVE 68 | autosomal recessive nonsyndromic hearing loss 68"
BMGC_DS10124,BMG_DS037997,Cone-Rod Dystrophy 11 | cone-rod dystrophy 11
BMGC_DS10125,BMG_DS037998,"West Nile virus, susceptibility to"
BMGC_DS10126,BMG_DS038000,"Diabetes Mellitus, Transient Neonatal, 2 | diabetes mellitus, transient neonatal, 2"
BMGC_DS10127,BMG_DS038001,"Diarrhea 4, Malabsorptive, Congenital | congenital malabsorptive diarrhea 4"
BMGC_DS10128,BMG_DS038002,Orofacial Cleft 9 | orofacial cleft 9
BMGC_DS10129,BMG_DS038003,Retinitis Pigmentosa 33 | retinitis pigmentosa 33
BMGC_DS10130,BMG_DS038004,"Spastic Paraplegia 30, Autosomal Recessive"
BMGC_DS10131,BMG_DS038005,Retinal Cone Dystrophy 3B | cone dystrophy with supernormal rod response | retinal cone dystrophy 3B
BMGC_DS10132,BMG_DS038006,"Epilepsy, Nocturnal Frontal Lobe, Type 4 | autosomal dominant nocturnal frontal lobe epilepsy 4"
BMGC_DS10133,BMG_DS038007,"Familial anomalous origin of right pulmonary artery | right pulmonary artery, anomalous origin of, familial"
BMGC_DS10134,BMG_DS038008,AICARDI-GOUTIERES SYNDROME 4 | Aicardi-Goutieres syndrome 4
BMGC_DS10135,BMG_DS038010,AICARDI-GOUTIERES SYNDROME 3 | Aicardi-Goutieres syndrome 3
BMGC_DS10136,BMG_DS038011,"systemic lupus erythematosus, susceptibility to, 6"
BMGC_DS10137,BMG_DS038012,Aminoacylase 1 deficiency | Deficiency of aminoacylase 1 | Deficiency of aminoacylase 1 (disorder) | aminoacylase 1 deficiency
BMGC_DS10138,BMG_DS038013,Retinitis Pigmentosa 31 | retinitis pigmentosa 31
BMGC_DS10139,BMG_DS038016,"Cardiomyopathy, Dilated, 1q | dilated cardiomyopathy 1Q"
BMGC_DS10140,BMG_DS038017,Retinitis Pigmentosa 32 | retinitis pigmentosa 32
BMGC_DS10141,BMG_DS038018,"CARDIOMYOPATHY, DILATED, 1P | dilated cardiomyopathy 1P"
BMGC_DS10142,BMG_DS038020,"ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY | combined immunodeficiency due to partial RAG1 deficiency"
BMGC_DS10143,BMG_DS038021,"leprosy, susceptibility to, 1"
BMGC_DS10144,BMG_DS038022,"Glaucoma 1, Open Angle, G | obsolete glaucoma 1, open angle, G"
BMGC_DS10145,BMG_DS038027,PARIETAL FORAMINA 3 | parietal foramina 3
BMGC_DS10146,BMG_DS038029,Nanophthalmos 2 | nanophthalmos 2
BMGC_DS10147,BMG_DS038031,"SPOAN syndrome | Spastic Paraplegia, Optic Atrophy, and Neuropathy | spastic paraplegia, optic atropy, and neuropathy"
BMGC_DS10148,BMG_DS038034,"Drug Metabolism, Poor, CYP2C19-Related"
BMGC_DS10149,BMG_DS038035,"Deafness, Autosomal Recessive 23 | autosomal recessive nonsyndromic hearing loss 23"
BMGC_DS10150,BMG_DS038036,Immunoglobulin a deficiency 2 | immunoglobulin A deficiency 2
BMGC_DS10151,BMG_DS038037,"CEDNIK syndrome | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"
BMGC_DS10152,BMG_DS038038,"Filaminopathy, autosomal dominant | myofibrillar myopathy 5"
BMGC_DS10153,BMG_DS038040,"Stickler Syndrome, Type I, Nonsyndromic Ocular | Stickler syndrome, type I, nonsyndromic ocular"
BMGC_DS10154,BMG_DS038041,"RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT | autosomal dominant rhegmatogenous retinal detachment"
BMGC_DS10155,BMG_DS038042,LEFT VENTRICULAR NONCOMPACTION 2 | left ventricular noncompaction 2
BMGC_DS10156,BMG_DS038045,Al-Gazali Syndrome | Al-Gazali syndrome
BMGC_DS10157,BMG_DS038046,"SARCOIDOSIS, EARLY-ONSET"
BMGC_DS10158,BMG_DS038047,Goldberg-Shprintzen megacolon syndrome | Goldberg-Shprintzen syndrome
BMGC_DS10159,BMG_DS038049,"Supranuclear Palsy, Progressive, 2 | supranuclear palsy, progressive, 2"
BMGC_DS10160,BMG_DS038050,"Myopathy, Myofibrillar, Zasp-Related"
BMGC_DS10161,BMG_DS038051,Generalized Epilepsy and Paroxysmal Dyskinesia
BMGC_DS10162,BMG_DS038052,"Chondrodysplasia, acromesomelic, with genital anomalies"
BMGC_DS10163,BMG_DS038053,"DEAFNESS, AUTOSOMAL RECESSIVE 48 | autosomal recessive nonsyndromic hearing loss 48"
BMGC_DS10164,BMG_DS038054,"Mental retardation, keratoconus, febrile seizures, and sinoatrial block | intellectual disability, keratoconus, febrile seizures, and sinoatrial block"
BMGC_DS10165,BMG_DS038055,"Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction | mesoaxial synostotic syndactyly with phalangeal reduction"
BMGC_DS10166,BMG_DS038056,Tukel syndrome
BMGC_DS10167,BMG_DS038057,susceptibility to HIV infection
BMGC_DS10168,BMG_DS038058,Holoprosencephaly 8 | holoprosencephaly 8
BMGC_DS10169,BMG_DS038059,Preeclampsia Eclampsia 4 | preeclampsia/eclampsia 4
BMGC_DS10170,BMG_DS038064,"Cataract, Congenital Nuclear, Autosomal Recessive 1 | cataract 35"
BMGC_DS10171,BMG_DS038065,"Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | epidermolysis bullosa simplex 2E, with migratory circinate erythema"
BMGC_DS10172,BMG_DS038067,"Spastic Paraplegia 28, Autosomal Recessive | hereditary spastic paraplegia 28"
BMGC_DS10173,BMG_DS038068,Carotid Intimal Medial Thickness 1
BMGC_DS10174,BMG_DS038071,"multiple epiphyseal dysplasia, with severe proximal femoral dysplasia"
BMGC_DS10175,BMG_DS038072,Rhabdoid Tumor Predisposition Syndrome 1 | rhabdoid tumor predisposition syndrome 1
BMGC_DS10176,BMG_DS038073,Erythrokeratodermia Variabilis 3 | MEDNIK syndrome
BMGC_DS10177,BMG_DS038074,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H | Charcot-Marie-Tooth disease type 4H"
BMGC_DS10178,BMG_DS038075,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | autosomal recessive limb-girdle muscular dystrophy type 2K"
BMGC_DS10179,BMG_DS038076,SPINOCEREBELLAR ATAXIA 27 | spinocerebellar ataxia type 27
BMGC_DS10180,BMG_DS038077,SPINOCEREBELLAR ATAXIA 26 | spinocerebellar ataxia type 26
BMGC_DS10181,BMG_DS038079,"B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations | B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"
BMGC_DS10182,BMG_DS038080,"Familial neurocardiogenic syncope | syncope, familial vasovagal"
BMGC_DS10183,BMG_DS038081,"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3"
BMGC_DS10184,BMG_DS038082,Nemaline myopathy 4 | congenital myopathy 23 | nemaline myopathy 4
BMGC_DS10185,BMG_DS038083,Nemaline myopathy 1 | nemaline myopathy 1
BMGC_DS10186,BMG_DS038084,"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2"
BMGC_DS10187,BMG_DS038085,Nemaline myopathy 6 | nemaline myopathy 6
BMGC_DS10188,BMG_DS038087,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 | autosomal recessive spinocerebellar ataxia 7"
BMGC_DS10189,BMG_DS038089,Li-Fraumeni Syndrome 2 | Li-Fraumeni syndrome 2 | obsolete Li-Fraumeni syndrome 2
BMGC_DS10190,BMG_DS038090,"Stuttering, Familial Persistent 2 | stuttering, familial persistent, 2"
BMGC_DS10191,BMG_DS038091,"Charcot-Marie-Tooth Disease, Axonal, Type 2A2"
BMGC_DS10192,BMG_DS038092,Myopia 10 | myopia 10
BMGC_DS10193,BMG_DS038093,Myopia 9 | myopia 9
BMGC_DS10194,BMG_DS038094,Myopia 8 | myopia 8
BMGC_DS10195,BMG_DS038095,Myopia 7 | myopia 7
BMGC_DS10196,BMG_DS038096,"febrile seizures, familial, 5"
BMGC_DS10197,BMG_DS038097,Generalised onset tonic epileptic seizure | Generalised tonic seizure | Generalised-onset tonic epileptic seizure | Generalized onset tonic epileptic seizure | Generalized onset tonic epileptic seizure (finding) | Generalized tonic seizure | Generalized-onset tonic epileptic seizure
BMGC_DS10198,BMG_DS038098,Senior-Loken Syndrome 5 | Senior-Loken syndrome 5
BMGC_DS10199,BMG_DS038099,"febrile seizures, familial, 6"
BMGC_DS10200,BMG_DS038101,Alpha-N-acetylgalactosaminidase deficiency type 2 | Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder) | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 2 | Schindler disease type 2 | alpha-N-acetylgalactosaminidase deficiency type 2
BMGC_DS10201,BMG_DS038102,Alpha-N-acetylgalactosaminidase deficiency type 1 | Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder) | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1 | Schindler disease type 1 | alpha-N-acetylgalactosaminidase deficiency type 1
BMGC_DS10202,BMG_DS038103,"GRISCELLI SYNDROME, TYPE 3 | Griscelli syndrome type 3"
BMGC_DS10203,BMG_DS038104,"Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type | spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type"
BMGC_DS10204,BMG_DS038105,Bruck syndrome 2
BMGC_DS10205,BMG_DS038106,Foveal Hypoplasia and Anterior Segment Dysgenesis
BMGC_DS10206,BMG_DS038107,Glucocorticoid Deficiency 3 | glucocorticoid deficiency 3
BMGC_DS10207,BMG_DS038108,"Spastic paraplegia 26, autosomal recessive | hereditary spastic paraplegia 26"
BMGC_DS10208,BMG_DS038109,Loeys-Dietz Aortic Aneurysm Syndrome | Loeys-Dietz Syndrome | Loeys-Dietz syndrome
BMGC_DS10209,BMG_DS038110,"Dissection, Ascending Aorta"
BMGC_DS10210,BMG_DS038111,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | MPDU1-congenital disorder of glycosylation | congenital disorder of glycosylation If"
BMGC_DS10211,BMG_DS038113,"Total Hypotrichosis, Mari type | hypotrichosis 7"
BMGC_DS10212,BMG_DS038114,Branchiogenic-Deafness Syndrome | branchiogenic deafness syndrome
BMGC_DS10213,BMG_DS038117,spondyloepiphyseal dysplasia with metatarsal shortening
BMGC_DS10214,BMG_DS038118,"Striatal Degeneration, Autosomal Dominant | striatal degeneration, autosomal dominant"
BMGC_DS10215,BMG_DS038120,"Pseudohyperkalemia, Familial, 2, due to Red Cell Leak | familial pseudohyperkalemia"
BMGC_DS10216,BMG_DS038121,"Hyperthyroidism, Nonautoimmune | familial hyperthyroidism due to mutations in TSH receptor"
BMGC_DS10217,BMG_DS038122,"malaria, mild, susceptibility to"
BMGC_DS10218,BMG_DS038124,"Corneal Dystrophy, Posterior Polymorphous, 3 | posterior polymorphous corneal dystrophy 3"
BMGC_DS10219,BMG_DS038125,"PCWH syndrome | Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease"
BMGC_DS10220,BMG_DS038126,autosomal dominant auditory neuropathy 1
BMGC_DS10221,BMG_DS038127,"Arthrogryposis, Distal, Type 4 | arthrogryposis-severe scoliosis syndrome | distal arthrogryposis type 4"
BMGC_DS10222,BMG_DS038128,"ANEURYSM, INTRACRANIAL BERRY, 3 | aneurysm, intracranial berry, 3 | intracranial berry aneurysm 3"
BMGC_DS10223,BMG_DS038130,"Limb-Girdle Muscular Dystrophy, Type 1G | autosomal dominant limb-girdle muscular dystrophy type 1G"
BMGC_DS10224,BMG_DS038131,"TELOMERE LENGTH, MEAN LEUKOCYTE"
BMGC_DS10225,BMG_DS038132,PANCREATIC AND CEREBELLAR AGENESIS | permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
BMGC_DS10226,BMG_DS038133,Combined Oxidative Phosphorylation Deficiency 1 | combined oxidative phosphorylation deficiency 1 | hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
BMGC_DS10227,BMG_DS038134,"Nephropathy with Pretibial Epidermolysis Bullosa and Deafness | epidermolysis bullosa simplex 7, with nephropathy and deafness"
BMGC_DS10228,BMG_DS038135,Amish Infantile Epilepsy Syndrome | GM3 synthase deficiency
BMGC_DS10229,BMG_DS038136,Developmental regression | Developmental regression (disorder)
BMGC_DS10230,BMG_DS038137,"Ceroid lipofuscinosis, neuronal 9 | neuronal ceroid lipofuscinosis 9"
BMGC_DS10231,BMG_DS038138,"FANCONI ANEMIA, COMPLEMENTATION GROUP J | Fanconi anemia complementation group J"
BMGC_DS10232,BMG_DS038139,"FANCONI ANEMIA, COMPLEMENTATION GROUP I | Fanconi anemia complementation group I"
BMGC_DS10233,BMG_DS038140,"Spondylometaphyseal Dysplasia, Type A4 | spondylometaphyseal dysplasia type A4 | spondylometaphyseal dysplasia, A4 type"
BMGC_DS10234,BMG_DS038141,Microcoria and congenital nephrosis syndrome | Pierson syndrome | Pierson syndrome (disorder)
BMGC_DS10235,BMG_DS038142,"melanoma, cutaneous malignant, susceptibility to, 3"
BMGC_DS10236,BMG_DS038144,"Spastic Paraplegia 27, Autosomal Recessive | hereditary spastic paraplegia 27"
BMGC_DS10237,BMG_DS038145,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 | arrhythmogenic right ventricular dysplasia 9"
BMGC_DS10238,BMG_DS038146,NARCOLEPSY 3 | narcolepsy 3
BMGC_DS10239,BMG_DS038147,"Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature | intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature"
BMGC_DS10240,BMG_DS038148,POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA | posterior column ataxia-retinitis pigmentosa syndrome
BMGC_DS10241,BMG_DS038149,Der(22) syndrome due to 3:1 meiotic disjunction events | Emanuel syndrome | Supernumerary der(22) syndrome | Supernumerary der(22)t(11;22) syndrome | Supernumerary der(22)t(11;22) syndrome (disorder) | Supernumerary derivative 22 chromosome syndrome
BMGC_DS10242,BMG_DS038151,Peripheral Cone Dystrophy | peripheral cone dystrophy
BMGC_DS10243,BMG_DS038152,Marfanoid Habitus with Situs Inversus | marfanoid habitus with situs inversus
BMGC_DS10244,BMG_DS038153,"DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT | autosomal recessive nonsyndromic hearing loss 36"
BMGC_DS10245,BMG_DS038154,Premature Ovarian Failure 3 | premature ovarian failure 3
BMGC_DS10246,BMG_DS038155,"dyslexia, susceptibility to, 8"
BMGC_DS10247,BMG_DS038156,"Atrial Fibrillation, Familial, 3 | atrial fibrillation, familial, 3"
BMGC_DS10248,BMG_DS038157,autosomal dominant sensory ataxia 1
BMGC_DS10249,BMG_DS038158,"CATARACT, CONGENITAL, CERULEAN TYPE, 3"
BMGC_DS10250,BMG_DS038159,Meacham syndrome
BMGC_DS10251,BMG_DS038160,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive"
BMGC_DS10252,BMG_DS038161,"Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 | patterned macular dystrophy 2"
BMGC_DS10253,BMG_DS038162,"CD8 Deficiency, Familial | susceptibility to respiratory infections associated with CD8alpha chain mutation"
BMGC_DS10254,BMG_DS038163,Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | spondylometaphyseal dysplasia with cone-rod dystrophy | spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
BMGC_DS10255,BMG_DS038166,congenital myasthenic syndrome 4C
BMGC_DS10256,BMG_DS038167,"Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency"
BMGC_DS10257,BMG_DS038168,"Myasthenic Syndrome, Congenital, Fast-Channel"
BMGC_DS10258,BMG_DS038169,Myopia 6 | myopia 6
BMGC_DS10259,BMG_DS038170,Alzheimer Disease 9
BMGC_DS10260,BMG_DS038175,"Drug Metabolism, Poor, CYP2D6-Related | obsolete drug metabolism, poor, CYP2D6-related"
BMGC_DS10261,BMG_DS038176,"coronary heart disease, susceptibility to, 5"
BMGC_DS10262,BMG_DS038177,"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 | familial hemophagocytic lymphohistiocytosis 3"
BMGC_DS10263,BMG_DS038178,"MACULAR DEGENERATION, AGE-RELATED, 3 | macular degeneration, age-related, 3"
BMGC_DS10264,BMG_DS038179,Waardenburg syndrome type 2D
BMGC_DS10265,BMG_DS038180,"Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly | hereditary cryohydrocytosis with reduced stomatin"
BMGC_DS10266,BMG_DS038181,OROFACIAL CLEFT 5 | orofacial cleft 5
BMGC_DS10267,BMG_DS038182,"orofacial cleft 6, susceptibility to"
BMGC_DS10268,BMG_DS038183,isolated cleft palate
BMGC_DS10269,BMG_DS038184,"Muscular Dystrophy, Congenital, Type 1D | muscular dystrophy-dystroglycanopathy type B6"
BMGC_DS10270,BMG_DS038185,Carney Complex Variant | Carney complex - trismus - pseudocamptodactyly syndrome
BMGC_DS10271,BMG_DS038189,"MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3 | juvenile myoclonic epilepsy 3 | myoclonic epilepsy, juvenile, susceptibility to, 3"
BMGC_DS10272,BMG_DS038191,"colorectal cancer, susceptibility to, 1"
BMGC_DS10273,BMG_DS038193,Alpha-B Crystallinopathy | myofibrillar myopathy 2
BMGC_DS10274,BMG_DS038196,"transposition of the great arteries, dextro-looped"
BMGC_DS10275,BMG_DS038197,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J | autosomal recessive limb-girdle muscular dystrophy type 2J"
BMGC_DS10276,BMG_DS038198,"Leukodystrophy, Hypomyelinating, 2 | hypomyelinating leukodystrophy 2"
BMGC_DS10277,BMG_DS038199,Sudden Infant Death with Dysgenesis of the Testes Syndrome | sudden infant death-dysgenesis of the testes syndrome
BMGC_DS10278,BMG_DS038200,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | congenital disorder of glycosylation Ie | congenital disorder of glycosylation type 1E"
BMGC_DS10279,BMG_DS038202,OTOSCLEROSIS 5 | otosclerosis 5
BMGC_DS10280,BMG_DS038203,Pyruvate dehydrogenase phosphatase deficiency | Pyruvate dehydrogenase phosphatase deficiency (disorder) | pyruvate dehydrogenase phosphatase deficiency
BMGC_DS10281,BMG_DS038205,SPINOCEREBELLAR ATAXIA 8 | spinocerebellar ataxia type 8
BMGC_DS10282,BMG_DS038206,"scoliosis, isolated, susceptibility to, 3"
BMGC_DS10283,BMG_DS038208,"epilepsy, idiopathic generalized, susceptibility to, 3"
BMGC_DS10284,BMG_DS038209,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 | hypertrophic cardiomyopathy 8"
BMGC_DS10285,BMG_DS038210,Insulin-Like Growth Factor I Deficiency | growth delay due to insulin-like growth factor type 1 deficiency
BMGC_DS10286,BMG_DS038212,"Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related | spondyloepimetaphyseal dysplasia, matrilin-3 type"
BMGC_DS10287,BMG_DS038214,"Microcephaly, Primary Autosomal Recessive, 5 | microcephaly 5, primary, autosomal recessive"
BMGC_DS10288,BMG_DS038215,Spinocerebellar ataxia 25 | spinocerebellar ataxia type 25
BMGC_DS10289,BMG_DS038219,AICA-ribosiduria | AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
BMGC_DS10290,BMG_DS038220,SPINOCEREBELLAR ATAXIA 20 | spinocerebellar ataxia type 20
BMGC_DS10291,BMG_DS038221,"Spondylocostal Dysostosis 2, Autosomal Recessive | autosomal recessive spondylocostal dysostosis | spondylocostal dysostosis 2, autosomal recessive"
BMGC_DS10292,BMG_DS038222,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L | Charcot-Marie-Tooth disease axonal type 2L"
BMGC_DS10293,BMG_DS038223,Robin Sequence with Distinctive Facial Appearance and Brachydactyly | intellectual disability-brachydactyly-Pierre Robin syndrome
BMGC_DS10294,BMG_DS038226,"DEAFNESS, AUTOSOMAL RECESSIVE 32 | autosomal recessive nonsyndromic hearing loss 32"
BMGC_DS10295,BMG_DS038227,"Deafness, Autosomal Dominant 47 | autosomal dominant nonsyndromic hearing loss 47"
BMGC_DS10296,BMG_DS038228,ICHTHYOSIS PREMATURITY SYNDROME | ichthyosis prematurity syndrome
BMGC_DS10297,BMG_DS038229,"Ciliary Dyskinesia, Primary, 5 | primary ciliary dyskinesia 5"
BMGC_DS10298,BMG_DS038231,"Deafness, Autosomal Dominant 31 | autosomal dominant nonsyndromic hearing loss 31"
BMGC_DS10299,BMG_DS038232,"CILIARY DYSKINESIA, PRIMARY, 3 | primary ciliary dyskinesia 3"
BMGC_DS10300,BMG_DS038233,"Deafness, Autosomal Dominant 28 | autosomal dominant nonsyndromic hearing loss 28"
BMGC_DS10301,BMG_DS038234,"ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1 | asperger syndrome, susceptibility to, 1"
BMGC_DS10302,BMG_DS038235,"Autosomal recessive Larsen syndrome | Humero-spinal dysostosis | Spondyloepiphyseal dysplasia with congenital joint dislocations | Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) | Spondyloepiphyseal dysplasia, Omani type | spondyloepiphyseal dysplasia with congenital joint dislocations"
BMGC_DS10303,BMG_DS038236,Gross motor development delay | Gross motor development delay (disorder)
BMGC_DS10304,BMG_DS038237,"ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 | asperger syndrome, susceptibility to, 2"
BMGC_DS10305,BMG_DS038238,JOUBERT SYNDROME 3 | Joubert syndrome 3
BMGC_DS10306,BMG_DS038239,Amyotrophic Lateral Sclerosis 8 | amyotrophic lateral sclerosis type 8
BMGC_DS10307,BMG_DS038240,"Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia | midface hypoplasia, obesity, developmental delay, and neonatal hypotonia"
BMGC_DS10308,BMG_DS038241,"Hypertension, Diastolic, Resistance to"
BMGC_DS10309,BMG_DS038242,oligodontia-cancer predisposition syndrome
BMGC_DS10310,BMG_DS038243,MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY | mandibuloacral dysplasia type B lipodystrophy | mandibuloacral dysplasia with type B lipodystrophy
BMGC_DS10311,BMG_DS038245,"Charcot-Marie-Tooth disease, axonal, Type 2G"
BMGC_DS10312,BMG_DS038248,"asthma-related traits, susceptibility to, 2"
BMGC_DS10313,BMG_DS038249,"Atrial Fibrillation, Familial, 2 | atrial fibrillation, familial, 2"
BMGC_DS10314,BMG_DS038251,Burn-McKeown syndrome | Burn-Mckeown syndrome | choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
BMGC_DS10315,BMG_DS038253,Ulnar-Fibular Ray Defect and Brachydactyly | ulnar/fibula ray defect-brachydactyly syndrome
BMGC_DS10316,BMG_DS038254,"CARDIOMYOPATHY, DILATED, 1O | dilated cardiomyopathy 1O"
BMGC_DS10317,BMG_DS038255,sick sinus syndrome 1
BMGC_DS10318,BMG_DS038256,"DEAFNESS, AUTOSOMAL RECESSIVE 35 | autosomal recessive nonsyndromic hearing loss 35"
BMGC_DS10319,BMG_DS038259,"legionnaire disease, susceptibility to"
BMGC_DS10320,BMG_DS038260,Leber Congenital Amaurosis 9 | Leber congenital amaurosis 9
BMGC_DS10321,BMG_DS038261,Larsen-Like Syndrome | Larsen-like osseous dysplasia-short stature syndrome
BMGC_DS10322,BMG_DS038262,SCHIZOPHRENIA 12 | schizophrenia 12
BMGC_DS10323,BMG_DS038263,"Aneurysm, intracranial berry, 2 | aneurysm, intracranial berry, 2"
BMGC_DS10324,BMG_DS038264,"Chuvash polycythemia | ERYTHROCYTOSIS, FAMILIAL, 2"
BMGC_DS10325,BMG_DS038268,"Myopia 5 | myopia 5, autosomal dominant"
BMGC_DS10326,BMG_DS038269,"Corneal Dystrophy, Lattice Type IIIA | corneal dystrophy, lattice type 3A"
BMGC_DS10327,BMG_DS038270,Knobloch Syndrome Type II
BMGC_DS10328,BMG_DS038273,"intellectual disability, autosomal recessive 3"
BMGC_DS10329,BMG_DS038274,"Epilepsy, Nocturnal Frontal Lobe, Type 1 | autosomal dominant nocturnal frontal lobe epilepsy 1"
BMGC_DS10330,BMG_DS038275,Autosomal Dominant Lateral Temporal Lobe Epilepsy | autosomal dominant epilepsy with auditory features
BMGC_DS10331,BMG_DS038276,schizophrenia 3
BMGC_DS10332,BMG_DS038277,ABCD syndrome
BMGC_DS10333,BMG_DS038278,maturity-onset diabetes of the young type 3
BMGC_DS10334,BMG_DS038279,"malignant hyperthermia, susceptibility to, 4"
BMGC_DS10335,BMG_DS038280,"MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA | myopathy, lactic acidosis, and sideroblastic anemia | myopathy, lactic acidosis, and sideroblastic anemia 1"
BMGC_DS10336,BMG_DS038283,"Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly | acrocardiofacial syndrome"
BMGC_DS10337,BMG_DS038284,Arterial Dissection with Lentiginosis | arterial dissection-lentiginosis syndrome
BMGC_DS10338,BMG_DS038285,"Hypertrichosis, anterior cervical | isolated anterior cervical hypertrichosis"
BMGC_DS10339,BMG_DS038286,Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas | angiokeratoma corporis diffusum with arteriovenous fistulas
BMGC_DS10340,BMG_DS038288,"Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV | aphalangy-syndactyly-microcephaly syndrome"
BMGC_DS10341,BMG_DS038289,Mesomelia-synostoses syndrome | mesomelia-synostoses syndrome
BMGC_DS10342,BMG_DS038290,"telangiectasia, hereditary hemorrhagic, type 2"
BMGC_DS10343,BMG_DS038291,CODAS (cerebro-oculo-dento-auriculo-skeletal) syndrome | CODAS syndrome | Cerebro-oculo-dento-auriculo-skeletal syndrome | Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)
BMGC_DS10344,BMG_DS038292,cone-rod dystrophy 14
BMGC_DS10345,BMG_DS038293,"Spastic paraplegia 6, autosomal dominant | hereditary spastic paraplegia 6"
BMGC_DS10346,BMG_DS038294,Aplasia cutis congenita of limbs recessive | recessive aplasia cutis congenita of limbs
BMGC_DS10347,BMG_DS038295,"Pachydermodactyly, Familial | pachydermodactyly, familial"
BMGC_DS10348,BMG_DS038296,"SPINAL MUSCULAR ATROPHY, TYPE IV | adult spinal muscular atrophy | spinal muscular atrophy, type IV"
BMGC_DS10349,BMG_DS038298,Band Heterotopia of Brain
BMGC_DS10350,BMG_DS038300,Succinic Acidemia | succinic acidemia
BMGC_DS10351,BMG_DS038301,"TIBIAL MUSCULAR DYSTROPHY, TARDIVE | tibial muscular dystrophy"
BMGC_DS10352,BMG_DS038303,RIPPLING MUSCLE DISEASE 1 | rippling muscle disease 1
BMGC_DS10353,BMG_DS038304,"PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome | PARC syndrome | Poikiloderma, alopecia, retrognathism, cleft palate syndrome | Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)"
BMGC_DS10354,BMG_DS038306,Osteopetrosis and infantile neuroaxonal dystrophy | infantile osteopetrosis with neuroaxonal dysplasia
BMGC_DS10355,BMG_DS038308,"DIABETES MELLITUS, INSULIN-DEPENDENT, 5 | type 1 diabetes mellitus 5"
BMGC_DS10356,BMG_DS038311,"Deafness, Autosomal Recessive 3 | autosomal recessive nonsyndromic hearing loss 3"
BMGC_DS10357,BMG_DS038312,"Epiphyseal dysplasia, multiple, 1 | multiple epiphyseal dysplasia 1 | multiple epiphyseal dysplasia type 1"
BMGC_DS10358,BMG_DS038317,"Polycystic kidneys, severe infantile with tuberous sclerosis | autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis"
BMGC_DS10359,BMG_DS038318,Lopes Gorlin syndrome | Short tarsus with absence of lower eyelashes syndrome | Short tarsus with absence of lower eyelashes syndrome (disorder) | short tarsus-absence of lower eyelashes syndrome
BMGC_DS10360,BMG_DS038319,APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS | Toriello-Lacassie-Droste syndrome | oculoectodermal syndrome
BMGC_DS10361,BMG_DS038320,"HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO | Helicobacter pylori infection, susceptibility to"
BMGC_DS10362,BMG_DS038321,"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 | Lynch syndrome 4 | hereditary nonpolyposis colorectal cancer type 4"
BMGC_DS10363,BMG_DS038322,Bor-Duane hydrocephalus contiguous gene syndrome | chromosome 8Q12.1-q21.2 deletion syndrome
BMGC_DS10364,BMG_DS038323,"Hydrocephalus, Autosomal Dominant | craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"
BMGC_DS10365,BMG_DS038324,Oculomaxillofacial dysostosis | Oculomaxillofacial dysostosis (disorder) | Richieri Costa Gorlin syndrome | oculomaxillofacial dysostosis
BMGC_DS10366,BMG_DS038325,"Bothnian type palmoplantar keratoderma | Diffuse palmoplantar keratoderma, Bothnian type | palmoplantar keratoderma, Bothnian type"
BMGC_DS10367,BMG_DS038326,"Exostoses, Multiple, Type III | exostoses, multiple, type III"
BMGC_DS10368,BMG_DS038327,"Epiphyseal dysplasia, multiple, 2 | epiphyseal dysplasia, multiple, 2"
BMGC_DS10369,BMG_DS038328,"dyslexia, susceptibility to, 2"
BMGC_DS10370,BMG_DS038329,multiple cutaneous and mucosal venous malformations
BMGC_DS10371,BMG_DS038330,ICHTHYOSIS EXFOLIATIVA | exfoliative ichthyosis
BMGC_DS10372,BMG_DS038331,Waardenburg syndrome type 2B
BMGC_DS10373,BMG_DS038332,"FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | Fanconi anemia complementation group D1"
BMGC_DS10374,BMG_DS038333,"Kuzniecky syndrome | Pachygyria, intellectual disability, epilepsy syndrome | Pachygyria, intellectual disability, epilepsy syndrome (disorder) | pachygyria-intellectual disability-epilepsy syndrome"
BMGC_DS10375,BMG_DS038334,"Spinal Muscular Atrophy, Distal, Congenital Nonprogressive | neuronopathy, distal hereditary motor, autosomal dominant 8"
BMGC_DS10376,BMG_DS038335,"Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia | hyperparathyroidism, primary, caused by water clear cell hyperplasia"
BMGC_DS10377,BMG_DS038336,NANOPHTHALMOS 1 | nanophthalmos 1
BMGC_DS10378,BMG_DS038337,"CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE | atrial standstill 1"
BMGC_DS10379,BMG_DS038338,MELANOMA-PANCREATIC CANCER SYNDROME | melanoma-pancreatic cancer syndrome
BMGC_DS10380,BMG_DS038340,"Hirschsprung disease, susceptibility to, 2"
BMGC_DS10381,BMG_DS038341,Sacral defect and anterior sacral meningocele
BMGC_DS10382,BMG_DS038342,"CEROID LIPOFUSCINOSIS, NEURONAL, 8 | neuronal ceroid lipofuscinosis 8"
BMGC_DS10383,BMG_DS038343,"Ceroid Lipofuscinosis, Neuronal, 7 | neuronal ceroid lipofuscinosis 7"
BMGC_DS10384,BMG_DS038344,CARASIL syndrome | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
BMGC_DS10385,BMG_DS038345,Retinitis Pigmentosa 11 | retinitis pigmentosa 11
BMGC_DS10386,BMG_DS038346,Retinitis Pigmentosa 14 | retinitis pigmentosa 14
BMGC_DS10387,BMG_DS038347,"epilepsy, childhood absence, susceptibility to, 1"
BMGC_DS10388,BMG_DS038351,"Rhizomelic chondrodysplasia punctata, type 3 | rhizomelic chondrodysplasia punctata type 3"
BMGC_DS10389,BMG_DS038352,WARBURG MICRO SYNDROME 1 | Warburg micro syndrome | Warburg micro syndrome 1
BMGC_DS10390,BMG_DS038353,"Dysphasia, Familial Developmental | familial developmental dysphasia"
BMGC_DS10391,BMG_DS038354,Stargardt disease 3
BMGC_DS10392,BMG_DS038355,Retinitis Pigmentosa 12 | retinitis pigmentosa 12
BMGC_DS10393,BMG_DS038356,SPLIT-HAND/FOOT MALFORMATION 3 | split hand-foot malformation 3
BMGC_DS10394,BMG_DS038357,Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies | spondyloepiphyseal dysplasia tarda with characteristic facies
BMGC_DS10395,BMG_DS038358,Chondrodysplasia pseudohermaphroditism syndrome | Chondrodysplasia with disorder of sex development syndrome | Chondrodysplasia with disorder of sex development syndrome (disorder) | Nivelon Nivelon Mabille syndrome | chondrodysplasia-pseudohermaphroditism syndrome
BMGC_DS10396,BMG_DS038359,Pancreatic beta cell agenesis with neonatal diabetes mellitus | pancreatic beta cell agenesis with neonatal diabetes mellitus
BMGC_DS10397,BMG_DS038360,"Macrocytosis, Familial | macrocytosis, familial"
BMGC_DS10398,BMG_DS038361,"Vitamin D Hydroxylation-Deficient Rickets, Type 1B | vitamin D hydroxylation-deficient rickets, type 1B"
BMGC_DS10399,BMG_DS038362,familial chronic myelocytic leukemia-like syndrome
BMGC_DS10400,BMG_DS038363,"DEAFNESS, AUTOSOMAL RECESSIVE 2 | autosomal recessive nonsyndromic hearing loss 2"
BMGC_DS10401,BMG_DS038364,Retinitis Pigmentosa 13 | retinitis pigmentosa 13
BMGC_DS10402,BMG_DS038365,Bladder Exstrophy and Epispadias Complex | bladder exstrophy-epispadias-cloacal extrophy complex
BMGC_DS10403,BMG_DS038366,Eiken Skeletal Dysplasia | Eiken syndrome
BMGC_DS10404,BMG_DS038368,"Wolfram Syndrome, Mitochondrial Form | Wolfram syndrome, mitochondrial form"
BMGC_DS10405,BMG_DS038369,"DEAFNESS, AMINOGLYCOSIDE-INDUCED | aminoglycoside-induced deafness | deafness, aminoglycoside-induced"
BMGC_DS10406,BMG_DS038370,"Parkinson Disease, Mitochondrial | Parkinson disease, mitochondrial"
BMGC_DS10407,BMG_DS038372,"MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE | lethal infantile mitochondrial myopathy"
BMGC_DS10408,BMG_DS038373,"myoglobinuria, recurrent"
BMGC_DS10409,BMG_DS038376,"ATAXIA AND POLYNEUROPATHY, ADULT-ONSET | adult-onset ataxia and polyneuropathy | ataxia and polyneuropathy, adult-onset"
BMGC_DS10410,BMG_DS038377,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
BMGC_DS10411,BMG_DS038378,MITOCHONDRIAL COMPLEX I DEFICIENCY | mitochondrial complex I deficiency | nuclear type mitochondrial complex I deficiency 1
BMGC_DS10412,BMG_DS038379,chloramphenicol toxicity
BMGC_DS10413,BMG_DS038380,"Alzheimer disease, susceptibility to, mitochondrial"
BMGC_DS10414,BMG_DS038384,"Striatonigral Degeneration, Infantile, Mitochondrial | striatonigral degeneration, infantile, mitochondrial"
BMGC_DS10415,BMG_DS038385,Mitochondrial Myopathy with Diabetes | mitochondrial myopathy with diabetes
BMGC_DS10416,BMG_DS038386,LEBER OPTIC ATROPHY AND DYSTONIA | Leber hereditary optic neuropathy and dystonia | Leber optic atrophy and dystonia
BMGC_DS10417,BMG_DS038388,"Hairy Ears, Y-Linked | hairy ears, Y-linked"
BMGC_DS10418,BMG_DS038389,"Spermatogenic Failure, Nonobstructive, Y-Linked | Y-linked spermatogenic failure 2 | spermatogenic failure, Y-linked, 2"
BMGC_DS10419,BMG_DS038394,"Retinitis Pigmentosa, Y-Linked | retinitis pigmentosa Y-linked"
BMGC_DS10420,BMG_DS038396,"intellectual disability, X-linked 89"
BMGC_DS10421,BMG_DS038399,"Von Willebrand Disease, X-Linked Form | Von Willebrand disease, X-linked form"
BMGC_DS10422,BMG_DS038400,"Vesicoureteral Reflux, X-Linked | vesicoureteral reflux, X-linked"
BMGC_DS10423,BMG_DS038401,UNIQUE GREEN PHENOMENON | unique green phenomenon
BMGC_DS10424,BMG_DS038403,"Say Meyer syndrome | Trigonocephaly, short stature, developmental delay syndrome | Trigonocephaly, short stature, developmental delay syndrome (disorder) | trigonocephaly-short stature-developmental delay syndrome"
BMGC_DS10425,BMG_DS038404,Torticollis keloids cryptorchidism renal dysplasia | torticollis-keloids-cryptorchidism-renal dysplasia syndrome
BMGC_DS10426,BMG_DS038405,"Dystonia 3, Torsion, X-Linked | X-linked dystonia-parkinsonism"
BMGC_DS10427,BMG_DS038406,Thyroxine-Binding Globulin Deficiency
BMGC_DS10428,BMG_DS038407,"Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis | X-linked thrombocytopenia with beta-thalassemia | beta-thalassemia-X-linked thrombocytopenia syndrome"
BMGC_DS10429,BMG_DS038408,Thrombocytopenia with Elevated Serum Iga and Renal Disease | thrombocytopenia with elevated serum IgA and renal disease
BMGC_DS10430,BMG_DS038409,Thrombocytopenia 1 | thrombocytopenia 1
BMGC_DS10431,BMG_DS038412,"Taurodontism, microdontia, and dens invaginatus | taurodontism, microdontia, and dens invaginatus"
BMGC_DS10432,BMG_DS038414,SPLIT-HAND/FOOT MALFORMATION 2 | split hand-foot malformation 2
BMGC_DS10433,BMG_DS038415,"Bulbo-Spinal Atrophy, X-Linked | Kennedy disease | Kennedy's disease"
BMGC_DS10434,BMG_DS038416,"spatial visualization, aptitude for"
BMGC_DS10435,BMG_DS038417,"Spastic paraplegia 2, X-linked | hereditary spastic paraplegia 2"
BMGC_DS10436,BMG_DS038419,"Schimke X-linked mental retardation syndrome | X-linked intellectual disability, Schimke type"
BMGC_DS10437,BMG_DS038420,"SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome | SCARF syndrome | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder)"
BMGC_DS10438,BMG_DS038422,Retinitis Pigmentosa 6 | retinitis pigmentosa 6
BMGC_DS10439,BMG_DS038423,Radiation Sensitivity of Natural Killer Activity | radiation sensitivity of natural killer activity
BMGC_DS10440,BMG_DS038424,Radius absent anogenital anomalies | absent radius-anogenital anomalies syndrome
BMGC_DS10441,BMG_DS038425,Pyruvate Dehydrogenase E1 Alpha Deficiency | pyruvate dehydrogenase E1-alpha deficiency
BMGC_DS10442,BMG_DS038426,Chronic lactic acidosis
BMGC_DS10443,BMG_DS038427,"Multiple Pterygium Syndrome, X-Linked | X-linked lethal multiple pterygium syndrome"
BMGC_DS10444,BMG_DS038428,"PROPERDIN DEFICIENCY, X-LINKED | X-linked properdin deficiency | properdin deficiency, X-linked"
BMGC_DS10445,BMG_DS038429,"Properdin Deficiency, Type II"
BMGC_DS10446,BMG_DS038430,"Properdin Deficiency, Type III"
BMGC_DS10447,BMG_DS038431,"Pierre Robin sequence, congenital heart defect, talipes syndrome | Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) | Pierre Robin syndrome, congenital heart defect, talipes syndrome | TARP (talipes equinovarus, atrial septal defect, Robin sequence, persistence of left superior vena cava) syndrome | TARP syndrome"
BMGC_DS10448,BMG_DS038434,Jensen syndrome | obsolete Jensen syndrome
BMGC_DS10449,BMG_DS038435,Optic Atrophy Spastic Paraplegia Syndrome | optic atrophy--spastic paraplegia syndrome
BMGC_DS10450,BMG_DS038436,"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 | Charcot-Marie-Tooth disease X-linked recessive 5"
BMGC_DS10451,BMG_DS038437,Early-onset X-linked optic atrophy | Early-onset X-linked optic atrophy (disorder) | Non-Leber type optic atrophy with early-onset | Optic atrophy type 2 | optic atrophy 2
BMGC_DS10452,BMG_DS038438,"Ophthalmoplegia, External, and Myopia | ophthalmoplegia, external, and myopia"
BMGC_DS10453,BMG_DS038440,"Nystagmus, Myoclonic | nystagmus, myoclonic"
BMGC_DS10454,BMG_DS038441,"Nystagmus 1, congenital, X- linked | nystagmus 1, congenital, X-linked"
BMGC_DS10455,BMG_DS038443,"Neuropathy, Hereditary Sensory, X-Linked | hereditary sensory neuropathy X-linked"
BMGC_DS10456,BMG_DS038445,"MYOPIA 1, X-LINKED | myopia 1, X-linked"
BMGC_DS10457,BMG_DS038446,Vacuolar myopathy | X-linked myopathy with excessive autophagy | X-linked myopathy with excessive autophagy (disorder)
BMGC_DS10458,BMG_DS038447,MYELOLYMPHATIC INSUFFICIENCY | myelolymphatic insufficiency
BMGC_DS10459,BMG_DS038450,"Muscular Dystrophy, Hemizygous Lethal Type | muscular dystrophy, Hemizygous lethal type"
BMGC_DS10460,BMG_DS038451,"Modifier, X-Linked, for Neurofunctional Defects | modifier, X-linked, for Neurofunctional defects"
BMGC_DS10461,BMG_DS038454,METACARPAL 4-5 FUSION | syndactyly type 8
BMGC_DS10462,BMG_DS038455,Christian syndrome | Skeletal dysplasia with intellectual disability syndrome | Skeletal dysplasia with intellectual disability syndrome (disorder) | skeletal dysplasia-intellectual disability syndrome
BMGC_DS10463,BMG_DS038456,Prieto syndrome
BMGC_DS10464,BMG_DS038457,Wieacker-Wolff syndrome
BMGC_DS10465,BMG_DS038458,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE | Wilson-Turner syndrome"
BMGC_DS10466,BMG_DS038459,FRAGILE X TREMOR/ATAXIA SYNDROME | fragile X-associated tremor/ataxia syndrome
BMGC_DS10467,BMG_DS038460,syndromic X-linked intellectual disability 12
BMGC_DS10468,BMG_DS038461,Noncompaction cardiomyopathy
BMGC_DS10469,BMG_DS038462,major affective disorder 2
BMGC_DS10470,BMG_DS038463,"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase"
BMGC_DS10471,BMG_DS038464,"SPERMATOGENIC FAILURE, X-LINKED, 2 | X-linked spermatogenic failure 2 | spermatogenic failure, X-linked, 2"
BMGC_DS10472,BMG_DS038465,"Macular Dystrophy, X-Linked | macular dystrophy, X-linked"
BMGC_DS10473,BMG_DS038466,"Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis | proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis"
BMGC_DS10474,BMG_DS038467,Lesch-Nyhan phenotype with normal HGPRT
BMGC_DS10475,BMG_DS038468,"Leiomyomatosis, esophageal and vulval, with nephropathy | X-linked diffuse leiomyomatosis-Alport syndrome"
BMGC_DS10476,BMG_DS038470,"Leber optic atrophy, susceptibility to"
BMGC_DS10477,BMG_DS038471,"CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED | X-linked complicated corpus callosum dysgenesis"
BMGC_DS10478,BMG_DS038472,Keratosis follicularis dwarfism cerebral atrophy | keratosis follicularis-dwarfism-cerebral atrophy syndrome
BMGC_DS10479,BMG_DS038473,Kallmann syndrome with spastic paraplegia | Spastic paraplegia with Kallmann syndrome
BMGC_DS10480,BMG_DS038474,"Jaundice, Familial Obstructive, of Infancy | jaundice, familial obstructive, of infancy"
BMGC_DS10481,BMG_DS038475,IRIS HYPOPLASIA WITH GLAUCOMA | anterior segment dysgenesis 3 | iris hypoplasia with glaucoma
BMGC_DS10482,BMG_DS038477,"impacted teeth, multiple"
BMGC_DS10483,BMG_DS038479,"Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein | immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein"
BMGC_DS10484,BMG_DS038480,IFAP syndrome | Ichthyosis follicularis atrichia photophobia syndrome | ichthyosis follicularis-alopecia-photophobia syndrome 1
BMGC_DS10485,BMG_DS038483,SMALL PATELLA SYNDROME | coxopodopatellar syndrome | ischiocoxopodopatellar syndrome
BMGC_DS10486,BMG_DS038484,"Internal Carotid Artery, Spontaneous Dissection of | internal carotid artery, spontaneous dissection of"
BMGC_DS10487,BMG_DS038485,"iris pigment layer, cleavage of"
BMGC_DS10488,BMG_DS038487,"insect Stings, hypersensitivity to"
BMGC_DS10489,BMG_DS038490,"incisors, rotation of upper central"
BMGC_DS10490,BMG_DS038492,solitary median maxillary central incisor syndrome
BMGC_DS10491,BMG_DS038494,"IgE RESPONSIVENESS, ATOPIC | IgE responsiveness, atopic"
BMGC_DS10492,BMG_DS038495,IMMUNE SUPPRESSION
BMGC_DS10493,BMG_DS038497,"Immune Deficiency, Familial Variable | immune deficiency, familial variable"
BMGC_DS10494,BMG_DS038498,ICHTHYOSIS--CHEEK--EYEBROW SYNDROME | ichthyosis-cheek-eyebrow syndrome
BMGC_DS10495,BMG_DS038499,LEBER CONGENITAL AMAUROSIS 11 | Leber congenital amaurosis 11
BMGC_DS10496,BMG_DS038500,"Ichthyosis hystrix, Curth Macklin type | ichthyosis hystrix of Curth-Macklin"
BMGC_DS10497,BMG_DS038502,Hypotrichosis Simplex of Scalp | hypotrichosis 2
BMGC_DS10498,BMG_DS038503,HYPOPHOSPHATEMIC BONE DISEASE | hypophosphatemic bone disease
BMGC_DS10499,BMG_DS038504,Odontohypophosphatasia | Odontohypophosphatasia (disorder) | odontohypophosphatasia
BMGC_DS10500,BMG_DS038505,"Barakat syndrome | HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome | HDR syndrome | Hypoparathyroidism, deafness, renal disease syndrome | Hypoparathyroidism, deafness, renal disease syndrome (disorder) | hypoparathyroidism-deafness-renal disease syndrome"
BMGC_DS10501,BMG_DS038507,Hypomelia mullerian duct anomalies | mullerian duct anomalies-limb anomalies syndrome
BMGC_DS10502,BMG_DS038508,"Hypocalciuric hypercalcemia, familial, type 2 | familial hypocalciuric hypercalcemia 2"
BMGC_DS10503,BMG_DS038510,Hypertrophia Musculorum Vera | hypertrophia musculorum vera
BMGC_DS10504,BMG_DS038511,Ambras syndrome | Ambras type hypertrichosis universalis congenita
BMGC_DS10505,BMG_DS038512,"THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY | selective pituitary resistance to thyroid hormone | selective pituitary thyroid hormone resistance"
BMGC_DS10506,BMG_DS038513,King Denborough syndrome | King Denborough syndrome (disorder) | King-Denborough syndrome | Koussef Nichols syndrome
BMGC_DS10507,BMG_DS038514,"Hyperthermia, Cutaneous, With Headaches And Nausea | hyperthermia, cutaneous, with headaches and nausea"
BMGC_DS10508,BMG_DS038515,Hypertaurinuric Cardiomyopathy
BMGC_DS10509,BMG_DS038516,"Familial hypersensitivity pneumonitis | hypersensitivity pneumonitis, familial"
BMGC_DS10510,BMG_DS038519,"Pseudohypoaldosteronism, Type IIa | pseudohypoaldosteronism type 2A"
BMGC_DS10511,BMG_DS038520,"Pseudohypoaldosteronism, Type IIb | pseudohypoaldosteronism type 2B"
BMGC_DS10512,BMG_DS038521,"Pseudohypoaldosteronism, Type IIc | pseudohypoaldosteronism type 2C"
BMGC_DS10513,BMG_DS038522,"hyperpigmentation with or without hypopigmentation, familial progressive"
BMGC_DS10514,BMG_DS038523,Hyperpigmentation of Fuldauer and Kuijpers | hyperpigmentation of Fuldauer and Kuijpers
BMGC_DS10515,BMG_DS038525,HYPERPARATHYROIDISM 1 | hyperparathyroidism 1
BMGC_DS10516,BMG_DS038527,Hyperostosis Cranialis Interna | hyperostosis cranialis interna
BMGC_DS10517,BMG_DS038528,"Hyperlipoproteinemia, Type II, and Deafness | hyperlipoproteinemia, type II, and deafness"
BMGC_DS10518,BMG_DS038529,"Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads"
BMGC_DS10519,BMG_DS038532,isolated hyperchlorhidrosis
BMGC_DS10520,BMG_DS038533,"Orthostatic Hypotensive Disorder, Streeten Type | orthostatic hypotensive disorder, Streeten type"
BMGC_DS10521,BMG_DS038534,"CAKUT2 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL | bilateral multicystic dysplastic kidney"
BMGC_DS10522,BMG_DS038535,Hyaloideoretinal degeneration of Wagner | Wagner disease
BMGC_DS10523,BMG_DS038536,"Horner Syndrome, Congenital | congenital Horner syndrome"
BMGC_DS10524,BMG_DS038537,Holoprosencephaly 4 | holoprosencephaly 4
BMGC_DS10525,BMG_DS038538,HOLOPROSENCEPHALY 3 | holoprosencephaly 3
BMGC_DS10526,BMG_DS038540,"Hidradenitis suppurativa, familial | familial acne inversa"
BMGC_DS10527,BMG_DS038541,"Beukes hip dysplasia | HIP DYSPLASIA, BEUKES TYPE | hip dysplasia, Beukes type"
BMGC_DS10528,BMG_DS038542,"Histiocytosis, Progressive Mucinous | hereditary progressive mucinous histiocytosis"
BMGC_DS10529,BMG_DS038543,diaphragmatic hernia 1
BMGC_DS10530,BMG_DS038544,"Hepatic Adenomas, Familial | hepatic adenomas, familial"
BMGC_DS10531,BMG_DS038545,HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN | hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain
BMGC_DS10532,BMG_DS038548,"Methemoglobinemia, Alpha-Globin Type"
BMGC_DS10533,BMG_DS038552,"Hemifacial Spasm, Familial | clonic hemifacial spasm"
BMGC_DS10534,BMG_DS038553,Bencze syndrome | Hemifacial Hyperplasia With Strabismus
BMGC_DS10535,BMG_DS038554,Heme Oxygenase 1 Deficiency | heme oxygenase 1 deficiency
BMGC_DS10536,BMG_DS038555,hemangiomas of small intestine
BMGC_DS10537,BMG_DS038556,"Heart-hand syndrome, Spanish type | heart-hand syndrome type 3"
BMGC_DS10538,BMG_DS038557,"Progressive Familial Heart Block, Type II | progressive familial heart block type II"
BMGC_DS10539,BMG_DS038559,Hand foot uterus syndrome | hand-foot-genital syndrome
BMGC_DS10540,BMG_DS038563,hairy palms and soles
BMGC_DS10541,BMG_DS038564,hairy nose tip
BMGC_DS10542,BMG_DS038566,ACHROMATOPSIA 4 | achromatopsia 4
BMGC_DS10543,BMG_DS038567,"Prolonged Bleeding Time, Brachydactyly, and Mental Retardation"
BMGC_DS10544,BMG_DS038571,Grant syndrome | Grant syndrome (disorder)
BMGC_DS10545,BMG_DS038578,Glucocorticoid Receptor Deficiency | glucocorticoid resistance
BMGC_DS10546,BMG_DS038579,"Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance"
BMGC_DS10547,BMG_DS038580,GLOMUVENOUS MALFORMATIONS | glomuvenous malformation
BMGC_DS10548,BMG_DS038583,Globulin Anomaly involving Beta (2A)-Globulin | globulin anomaly involving beta (2A)-globulin
BMGC_DS10549,BMG_DS038584,Glaucoma and Sleep Apnea | glaucoma-sleep apnea syndrome
BMGC_DS10550,BMG_DS038585,"GLAUCOMA 1, OPEN ANGLE, E"
BMGC_DS10551,BMG_DS038586,"GLAUCOMA 1, OPEN ANGLE, A | glaucoma 1, open angle, A | juvenile glaucoma"
BMGC_DS10552,BMG_DS038588,"IRIDOGONIODYSGENESIS, TYPE 2 | anterior segment dysgenesis 4"
BMGC_DS10553,BMG_DS038589,Giant Platelet Syndrome with Thrombocytopenia | obsolete giant platelet syndrome with thrombocytopenia
BMGC_DS10554,BMG_DS038590,large congenital melanocytic nevus
BMGC_DS10555,BMG_DS038591,GIANT NEUTROPHIL LEUKOCYTES | giant neutrophil leukocytes
BMGC_DS10556,BMG_DS038596,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F | autosomal dominant limb-girdle muscular dystrophy type 1F"
BMGC_DS10557,BMG_DS038597,bradyopsia
BMGC_DS10558,BMG_DS038599,Platelet Glycoprotein IV Deficiency | platelet-type bleeding disorder 10
BMGC_DS10559,BMG_DS038600,"Deafness, Autosomal Dominant 43 | autosomal dominant nonsyndromic hearing loss 43"
BMGC_DS10560,BMG_DS038601,"Microcephaly, Primary Autosomal Recessive, 6 | microcephaly 6, primary, autosomal recessive"
BMGC_DS10561,BMG_DS038604,Branchiootic Syndrome 3 | branchiootic syndrome 3
BMGC_DS10562,BMG_DS038605,Retinitis Pigmentosa 26 | retinitis pigmentosa 26
BMGC_DS10563,BMG_DS038606,"Deafness, Autosomal Dominant 49 | autosomal dominant nonsyndromic hearing loss 49"
BMGC_DS10564,BMG_DS038607,Orofacial Cleft 4 | orofacial cleft 4
BMGC_DS10565,BMG_DS038608,"spondyloepiphyseal dysplasia Kimberley type | spondyloepiphyseal dysplasia, Kimberley type"
BMGC_DS10566,BMG_DS038609,"Hyaline body myopathy | Myosin storage myopathy | Myosin storage myopathy (disorder) | congenital myopathy 7A, myosin storage, autosomal dominant"
BMGC_DS10567,BMG_DS038610,Capillary Malformation-Arteriovenous Malformation | capillary malformation-arteriovenous malformation syndrome
BMGC_DS10568,BMG_DS038611,"Nystagmus 3, congenital, autosomal dominant | nystagmus 3, congenital, autosomal dominant"
BMGC_DS10569,BMG_DS038612,"Charcot-Marie-Tooth Disease, Recessive Intermediate A | Charcot-Marie-Tooth disease recessive intermediate A"
BMGC_DS10570,BMG_DS038613,"Charcot-Marie-Tooth Disease, Dominant Intermediate C | Charcot-Marie-Tooth disease dominant intermediate C"
BMGC_DS10571,BMG_DS038614,"CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 | coronary artery disease, autosomal dominant, 1"
BMGC_DS10572,BMG_DS038621,"Deafness, Autosomal Recessive 39 | autosomal recessive nonsyndromic hearing loss 39"
BMGC_DS10573,BMG_DS038622,"Deafness, Autosomal Recessive 40 | autosomal recessive nonsyndromic hearing loss 40"
BMGC_DS10574,BMG_DS038623,"Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant | mandibulofacial dysostosis with ptosis, autosomal dominant"
BMGC_DS10575,BMG_DS038624,OTOSCLEROSIS 3 | otosclerosis 3
BMGC_DS10576,BMG_DS038625,"Slowed Nerve Conduction Velocity, Autosomal Dominant | autosomal dominant slowed nerve conduction velocity"
BMGC_DS10577,BMG_DS038626,HERMANSKY-PUDLAK SYNDROME 2 | Hermansky-Pudlak syndrome 2
BMGC_DS10578,BMG_DS038627,"Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation | cataract - congenital heart disease - neural tube defect syndrome"
BMGC_DS10579,BMG_DS038628,"Deafness, Autosomal Dominant 41 | autosomal dominant nonsyndromic hearing loss 41"
BMGC_DS10580,BMG_DS038630,"DEAFNESS, AUTOSOMAL RECESSIVE 38 | autosomal recessive nonsyndromic hearing loss 38"
BMGC_DS10581,BMG_DS038631,"Epilepsy, Benign Neonatal, 3 | seizures, benign familial neonatal, 3"
BMGC_DS10582,BMG_DS038632,Neutrophil Immunodeficiency Syndrome | immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis | neutrophil immunodeficiency syndrome
BMGC_DS10583,BMG_DS038633,TROPICAL CALCIFIC PANCREATITIS | tropical pancreatitis
BMGC_DS10584,BMG_DS038634,"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4 | hyper-IgM syndrome type 4 | immunodeficiency with hyper-IgM type 4"
BMGC_DS10585,BMG_DS038635,Synpolydactyly 2 | synpolydactyly type 2
BMGC_DS10586,BMG_DS038637,"autoimmune thyroid disease, susceptibility to, 3"
BMGC_DS10587,BMG_DS038640,CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
BMGC_DS10588,BMG_DS038642,8q22.1 microdeletion syndrome | 8q22.1 microdeletion syndrome (disorder) | Monosomy 8q22.1 | Nablus mask-like facial syndrome
BMGC_DS10589,BMG_DS038643,"Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones | lipodystrophy-intellectual disability-deafness syndrome"
BMGC_DS10590,BMG_DS038645,Retinitis Pigmentosa 7 | retinitis pigmentosa 7
BMGC_DS10591,BMG_DS038646,"Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc | zinc deficiency, transient neonatal"
BMGC_DS10592,BMG_DS038647,"Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp | rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"
BMGC_DS10593,BMG_DS038648,Dystonia 18 | Paroxysmal exertion-induced dyskinesia | Paroxysmal exertion-induced dyskinesia (disorder) | childhood onset GLUT1 deficiency syndrome 2 | glucose transporter type 1 deficiency syndrome 2
BMGC_DS10594,BMG_DS038649,Limb-girdle muscle atrophy
BMGC_DS10595,BMG_DS038651,"Heterotopia, Periventricular, Autosomal Recessive | periventricular heterotopia with microcephaly, autosomal recessive"
BMGC_DS10596,BMG_DS038653,JOUBERT SYNDROME 2 | Joubert syndrome 2
BMGC_DS10597,BMG_DS038654,"Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux | hereditary sensory and autonomic neuropathy type 1B | hereditary sensory neuropathy type 1B"
BMGC_DS10598,BMG_DS038655,SCHIZOPHRENIA 11 | schizophrenia 11
BMGC_DS10599,BMG_DS038657,"autism, susceptibility to, 3"
BMGC_DS10600,BMG_DS038662,"Spinocerebellar ataxia, autosomal recessive 6 | autosomal recessive spinocerebellar ataxia 6 | infantile-onset autosomal recessive nonprogressive cerebellar ataxia"
BMGC_DS10601,BMG_DS038664,Pontocerebellar Hypoplasia Type 3 | pontocerebellar hypoplasia type 3
BMGC_DS10602,BMG_DS038665,Diaphanospondylodysostosis | Diaphanospondylodysostosis (disorder) | diaphanospondylodysostosis
BMGC_DS10603,BMG_DS038666,"GAUCHER DISEASE, PERINATAL LETHAL | Gaucher disease perinatal lethal"
BMGC_DS10604,BMG_DS038671,SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION | Spondyloenchondrodysplasia with immune dysregulation
BMGC_DS10605,BMG_DS038672,Atrial septal defect 2 | atrial septal defect 2
BMGC_DS10606,BMG_DS038673,"Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like | peeling skin syndrome 4"
BMGC_DS10607,BMG_DS038674,RETINITIS PIGMENTOSA 30 | retinitis pigmentosa 30
BMGC_DS10608,BMG_DS038675,"ALG2-congenital disorder of glycosylation | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | congenital disorder of glycosylation Ii"
BMGC_DS10609,BMG_DS038676,HYPOTRICHOSIS 6 | hypotrichosis 6
BMGC_DS10610,BMG_DS038677,"epilepsy, familial adult myoclonic, 2"
BMGC_DS10611,BMG_DS038678,Chromosome 1p36 Deletion Syndrome | chromosome 1p36 deletion syndrome
BMGC_DS10612,BMG_DS038679,Caudal Duplication Anomaly | caudal duplication
BMGC_DS10613,BMG_DS038681,"Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency"
BMGC_DS10614,BMG_DS038682,Adult-Onset Vitelliform Macular Dystrophy | Vitelliform Macular Dystrophy | adult-onset foveomacular vitelliform dystrophy | vitelliform macular dystrophy
BMGC_DS10615,BMG_DS038684,"Neutropenia, Nonimmune Chronic Idiopathic, Adult | nonimmune chronic idiopathic neutropenia of adults"
BMGC_DS10616,BMG_DS038685,"AURAL ATRESIA, CONGENITAL | aural atresia, congenital"
BMGC_DS10617,BMG_DS038686,"Deafness, Autosomal Dominant 48 | autosomal dominant nonsyndromic hearing loss 48"
BMGC_DS10618,BMG_DS038687,"autoimmune disease, susceptibility to, 1"
BMGC_DS10619,BMG_DS038688,"focal segmental glomerulosclerosis 3, susceptibility to"
BMGC_DS10620,BMG_DS038689,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K | Charcot-Marie-Tooth disease axonal type 2K"
BMGC_DS10621,BMG_DS038690,"Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k | autosomal dominant Charcot-Marie-Tooth disease type 2K"
BMGC_DS10622,BMG_DS038691,"MITRAL VALVE PROLAPSE, MYXOMATOUS 2 | mitral valve prolapse, myxomatous 2"
BMGC_DS10623,BMG_DS038692,HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME | hypotrichosis-lymphedema-telangiectasia syndrome
BMGC_DS10624,BMG_DS038693,"Alzheimer disease 3 | Alzheimer disease, familial, type 3"
BMGC_DS10625,BMG_DS038694,"Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques"
BMGC_DS10626,BMG_DS038695,"Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia"
BMGC_DS10627,BMG_DS038696,"Deafness, Autosomal Recessive 37 | autosomal recessive nonsyndromic hearing loss 37"
BMGC_DS10628,BMG_DS038697,Craniolenticulosutural Dysplasia | craniolenticulosutural dysplasia
BMGC_DS10629,BMG_DS038698,"Charcot-Marie-Tooth Disease, Dominant Intermediate D | Charcot-Marie-Tooth disease dominant intermediate D"
BMGC_DS10630,BMG_DS038699,Acrocapitofemoral Dysplasia | acrocapitofemoral dysplasia
BMGC_DS10631,BMG_DS038700,"Bile acid synthesis defect, congenital, 1 | congenital bile acid synthesis defect 1"
BMGC_DS10632,BMG_DS038701,"Hypercholanemia, Familial | hypercholanemia, familial"
BMGC_DS10633,BMG_DS038702,"SEIZURES, BENIGN FAMILIAL INFANTILE, 3 | benign familial infantile seizures 3 | seizures, benign familial infantile, 3"
BMGC_DS10634,BMG_DS038704,"Charcot-Marie-Tooth disease type 2J | Charcot-Marie-Tooth disease, Type 2J"
BMGC_DS10635,BMG_DS038705,"Charcot-Marie-Tooth disease type 1F | Charcot-Marie-Tooth disease, demyelinating, Type 1F"
BMGC_DS10636,BMG_DS038706,"Charcot-Marie-Tooth disease axonal type 2H | Charcot-Marie-Tooth disease, Type 2H"
BMGC_DS10637,BMG_DS038708,Noonan syndrome-like disorder with loose anagen hair | Noonan syndrome-like disorder with loose anagen hair (disorder) | Tosti syndrome
BMGC_DS10638,BMG_DS038709,"Charcot-Marie-Tooth disease, Type 4A, axonal form | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive"
BMGC_DS10639,BMG_DS038710,Parkinson Disease 11
BMGC_DS10640,BMG_DS038711,"Charcot-Marie-Tooth disease type 2E | Charcot-Marie-Tooth disease, Type 2E"
BMGC_DS10641,BMG_DS038714,"Charcot-Marie-Tooth disease type 1D | Charcot-Marie-Tooth disease, Type 1D"
BMGC_DS10642,BMG_DS038715,IRAK4 Deficiency | immunodeficiency 67
BMGC_DS10643,BMG_DS038716,"Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy | cataract, congenital, with mental impairment and dentate gyrus atrophy"
BMGC_DS10644,BMG_DS038717,torsion dystonia 13
BMGC_DS10645,BMG_DS038724,Skin Fragility-Woolly Hair Syndrome | woolly hair-skin fragility syndrome
BMGC_DS10646,BMG_DS038725,"CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY | candidiasis, familial, 3"
BMGC_DS10647,BMG_DS038726,"Neuronopathy, Distal Hereditary Motor, Type Viib | neuronopathy, distal hereditary motor, type 7B"
BMGC_DS10648,BMG_DS038727,Van Buchem disease type 2
BMGC_DS10649,BMG_DS038728,"OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 | autosomal dominant osteopetrosis 1"
BMGC_DS10650,BMG_DS038729,"ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS | neonatal ichthyosis-sclerosing cholangitis syndrome"
BMGC_DS10651,BMG_DS038730,"NIEMANN-PICK DISEASE, TYPE C2 | Niemann-Pick disease, type C2"
BMGC_DS10652,BMG_DS038733,"Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis | annular epidermolytic ichthyosis"
BMGC_DS10653,BMG_DS038735,Lethal Congenital Contracture Syndrome 2 | lethal congenital contracture syndrome 2
BMGC_DS10654,BMG_DS038738,"Pontocerebellar Hypoplasia, Type 1a | pontocerebellar hypoplasia type 1 | pontocerebellar hypoplasia type 1A"
BMGC_DS10655,BMG_DS038742,"Spastic Paraplegia 24, Autosomal Recessive | hereditary spastic paraplegia 24"
BMGC_DS10656,BMG_DS038743,"LEPROSY, SUSCEPTIBILITY TO, 2 | leprosy, susceptibility to, 2"
BMGC_DS10657,BMG_DS038744,"spastic paraplegia, ataxia, and intellectual disability"
BMGC_DS10658,BMG_DS038745,"Atrial fibrillation, familial 1 | atrial fibrillation, familial, 1"
BMGC_DS10659,BMG_DS038749,"Camptosynpolydactyly, complex"
BMGC_DS10660,BMG_DS038750,"TOENAIL DYSTROPHY, ISOLATED | nonsyndromic congenital nail disorder 8"
BMGC_DS10661,BMG_DS038751,"migraine with or without aura, susceptibility to, 6"
BMGC_DS10662,BMG_DS038753,"migraine with or without aura, susceptibility to, 5"
BMGC_DS10663,BMG_DS038755,"migraine without aura, susceptibility to, 4"
BMGC_DS10664,BMG_DS038756,"bulimia nervosa, susceptibility to, 1"
BMGC_DS10665,BMG_DS038757,"migraine with or without aura, susceptibility to, 3"
BMGC_DS10666,BMG_DS038758,"DYSTONIA 15, MYOCLONIC | myoclonic dystonia 15"
BMGC_DS10667,BMG_DS038759,"FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED | GRN-related frontotemporal lobar degeneration with Tdp43 inclusions"
BMGC_DS10668,BMG_DS038760,Biotin-responsive basal ganglia disease | Biotin-thiamine-responsive basal ganglia disease | Biotin-thiamine-responsive basal ganglia disease (disorder) | Thiamine metabolism dysfunction syndrome 2 | Thiamine transporter-2 deficiency | biotin-responsive basal ganglia disease
BMGC_DS10669,BMG_DS038761,"CARDIOMYOPATHY, DILATED, 1M | dilated cardiomyopathy 1M"
BMGC_DS10670,BMG_DS038762,Newfoundland Rod-Cone Dystrophy | Newfoundland cone-rod dystrophy
BMGC_DS10671,BMG_DS038763,Bothnia Retinal Dystrophy | Bothnia retinal dystrophy
BMGC_DS10672,BMG_DS038764,"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 | vitamin K-dependent clotting factors, combined deficiency of, type 2"
BMGC_DS10673,BMG_DS038765,"Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"
BMGC_DS10674,BMG_DS038766,SPINOCEREBELLAR ATAXIA WITH EPILEPSY | spinocerebellar ataxia with epilepsy
BMGC_DS10675,BMG_DS038767,SPINOCEREBELLAR ATAXIA 18 | spinocerebellar ataxia type 18
BMGC_DS10676,BMG_DS038768,GIL BLOOD GROUP
BMGC_DS10677,BMG_DS038769,SPINOCEREBELLAR ATAXIA 21 | spinocerebellar ataxia type 21
BMGC_DS10678,BMG_DS038770,"Deafness, Autosomal Dominant 44 | autosomal dominant nonsyndromic hearing loss 44"
BMGC_DS10679,BMG_DS038771,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | arrhythmogenic right ventricular dysplasia 8"
BMGC_DS10680,BMG_DS038772,coenzyme Q10 deficiency
BMGC_DS10681,BMG_DS038773,"intellectual disability, autosomal recessive 2"
BMGC_DS10682,BMG_DS038774,"Hypouricemia, Familial Renal, due to Tubular Hypersecretion | hypouricemia, familial renal, due to tubular hypersecretion"
BMGC_DS10683,BMG_DS038775,"Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies | male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"
BMGC_DS10684,BMG_DS038778,"Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction"
BMGC_DS10685,BMG_DS038779,Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence | holoprosencephaly-hypokinesia-congenital contractures syndrome
BMGC_DS10686,BMG_DS038780,Hirschsprung disease type d brachydactyly | Hirschsprung disease-type D brachydactyly syndrome
BMGC_DS10687,BMG_DS038781,Hhhh Syndrome | Hhhh syndrome
BMGC_DS10688,BMG_DS038782,"HETEROTAXY, VISCERAL, 1, X-LINKED | heterotaxy, visceral, 1, X-linked"
BMGC_DS10689,BMG_DS038783,"hernia, anterior diaphragmatic"
BMGC_DS10690,BMG_DS038784,hemopoietic proliferation
BMGC_DS10691,BMG_DS038787,"Granulomatous Disease, Chronic | Granulomatous Disease, Chronic, X-Linked | granulomatous disease, chronic, X-linked"
BMGC_DS10692,BMG_DS038789,"Granulomas, congenital cerebral | granulomas, congenital cerebral"
BMGC_DS10693,BMG_DS038792,"Membranoproliferative Glomerulonephritis, X-Linked | membranoproliferative glomerulonephritis, X-linked"
BMGC_DS10694,BMG_DS038793,Fingerprint Body Myopathy | fingerprint body myopathy
BMGC_DS10695,BMG_DS038795,"Exudative Vitreoretinopathy, Familial, X-Linked Recessive | exudative vitreoretinopathy 2, X-linked"
BMGC_DS10696,BMG_DS038798,"Dyggve-Melchior-Clausen syndrome, X-linked | X-linked Dyggve-Melchior-Clausen syndrome"
BMGC_DS10697,BMG_DS038799,Dermoids of cornea | X-linked corneal dermoid
BMGC_DS10698,BMG_DS038801,"Deafness, X-Linked 1 | hearing loss, X-linked 1"
BMGC_DS10699,BMG_DS038802,Progressive hearing loss stapes fixation | X-linked mixed hearing loss with perilymphatic gusher
BMGC_DS10700,BMG_DS038804,"OTOPALATODIGITAL SYNDROME, TYPE II | otopalatodigital syndrome type 2"
BMGC_DS10701,BMG_DS038806,"CONE-ROD DYSTROPHY, X-LINKED, 1 | X-linked cone-rod dystrophy 1"
BMGC_DS10702,BMG_DS038807,"CONE DYSTROPHY, X-LINKED, 1 | cone dystrophy 1, X-linked"
BMGC_DS10703,BMG_DS038808,"CLEFT PALATE, X-LINKED | cleft palate with or without ankyloglossia, X-linked"
BMGC_DS10704,BMG_DS038809,Cleft Palate with Ankyloglossia
BMGC_DS10705,BMG_DS038810,Ayazi syndrome | Choroideraemia with deafness and obesity syndrome | Choroideremia with deafness and obesity syndrome | Choroideremia with deafness and obesity syndrome (disorder) | Xq21 microdeletion syndrome
BMGC_DS10706,BMG_DS038811,"Brachytelephalangic Chondrodysplasia Punctata | chondrodysplasia punctata, brachytelephalangic, autosomal"
BMGC_DS10707,BMG_DS038812,Abruzzo Erickson syndrome | Abruzzo-Erickson syndrome | CHARGE-like syndrome | Cleft palate with coloboma of eye and deafness syndrome | Cleft palate with coloboma of eye and deafness syndrome (disorder)
BMGC_DS10708,BMG_DS038814,"Charcot Marie Tooth type 1 aplasia cutis congenita | Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita"
BMGC_DS10709,BMG_DS038815,"Charcot-Marie-Tooth disease X-linked recessive 3 | Charcot-Marie-Tooth disease, X-linked recessive, 3"
BMGC_DS10710,BMG_DS038816,"Charcot-Marie-Tooth disease X-linked recessive 2 | Charcot-Marie-Tooth disease, X-linked recessive, 2"
BMGC_DS10711,BMG_DS038817,"Cerebral Sclerosis, Diffuse, Scholz Type | cerebral sclerosis, diffuse, scholz type"
BMGC_DS10712,BMG_DS038818,"SPINOCEREBELLAR ATAXIA, X-LINKED 2 | X-linked spinocerebellar ataxia 2 | spinocerebellar ataxia, X-linked 2"
BMGC_DS10713,BMG_DS038819,"central incisors, absence of"
BMGC_DS10714,BMG_DS038820,Catel Manzke syndrome | Catel Manzke syndrome (disorder) | Catel-Manzke syndrome | Micrognathia digital syndrome | Palatodigital syndrome Catel-Manzke type
BMGC_DS10715,BMG_DS038823,Branchial arch syndrome X-linked | X-linked mandibulofacial dysostosis
BMGC_DS10716,BMG_DS038826,"Arthrogryposis multiplex congenita, distal, X-linked | X-linked spinal muscular atrophy 2 | infantile-onset X-linked spinal muscular atrophy"
BMGC_DS10717,BMG_DS038829,Microphthalmia with ankyloblepharon and intellectual disability syndrome | Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) | Syndromic microphthalmia type 4 | syndromic microphthalmia 1
BMGC_DS10718,BMG_DS038830,"Neural tube defects X-linked | neural tube defects, X-linked"
BMGC_DS10719,BMG_DS038832,"ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA | X-linked sideroblastic anemia with ataxia"
BMGC_DS10720,BMG_DS038833,X-linked reticulate pigmentary disorder
BMGC_DS10721,BMG_DS038834,"AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 | X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2"
BMGC_DS10722,BMG_DS038835,"AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1"
BMGC_DS10723,BMG_DS038836,"Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth | amelogenesis imperfecta type 1E"
BMGC_DS10724,BMG_DS038837,Alpha thalassaemia X-linked intellectual deficit | Alpha thalassaemia X-linked intellectual disability syndrome | Alpha thalassemia X-linked intellectual deficit | Alpha thalassemia X-linked intellectual disability syndrome | Alpha thalassemia X-linked intellectual disability syndrome (disorder) | alpha thalassemia-X-linked intellectual disability syndrome
BMGC_DS10725,BMG_DS038838,ALBINISM-DEAFNESS SYNDROME | albinism-hearing loss syndrome
BMGC_DS10726,BMG_DS038839,Ocular albinism with late-onset sensorineural deafness | Ocular albinism with late-onset sensorineural deafness (disorder) | ocular albinism with late-onset sensorineural deafness
BMGC_DS10727,BMG_DS038840,"Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked | rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked"
BMGC_DS10728,BMG_DS038841,"Invasive Pneumococcal Disease, Recurrent Isolated, 2"
BMGC_DS10729,BMG_DS038842,"Lymphoproliferative Syndrome, X-Linked, 2 | X-linked lymphoproliferative disease due to XIAP deficiency"
BMGC_DS10730,BMG_DS038843,"Cataracts, ataxia, short stature, and mental retardation | cataract, ataxia, short stature, and intellectual disability"
BMGC_DS10731,BMG_DS038844,"Deafness, X-Linked 5"
BMGC_DS10732,BMG_DS038846,"Hyperekplexia and Epilepsy | developmental and epileptic encephalopathy, 8"
BMGC_DS10733,BMG_DS038847,Retinitis Pigmentosa 34 | retinitis pigmentosa 34
BMGC_DS10734,BMG_DS038848,Premature Ovarian Failure 2b | premature ovarian failure 2B
BMGC_DS10735,BMG_DS038849,"Nystagmus 5, Infantile Periodic Alternating | nystagmus 5, congenital, X-linked"
BMGC_DS10736,BMG_DS038851,SHOX-related short stature
BMGC_DS10737,BMG_DS038852,FG syndrome 5 | Fg Syndrome 5
BMGC_DS10738,BMG_DS038853,Chromosome Xp11.3 Deletion Syndrome | X-linked intellectual disability-retinitis pigmentosa syndrome
BMGC_DS10739,BMG_DS038854,"intellectual disability, X-linked 91"
BMGC_DS10740,BMG_DS038855,"intellectual disability, X-linked 92"
BMGC_DS10741,BMG_DS038856,Hartsfield-Bixler-Demyer syndrome
BMGC_DS10742,BMG_DS038857,"Glycogen Storage Disease, Type IXD | glycogen storage disease IXd"
BMGC_DS10743,BMG_DS038859,Dent Disease 2 | Dent disease 2 | Dent disease type 2
BMGC_DS10744,BMG_DS038860,"Familial Hypophosphatemic Rickets | Hypophosphatemic Rickets, X-Linked Recessive | X-linked dominant hypophosphatemic rickets | hypophosphatemic rickets, X-linked recessive"
BMGC_DS10745,BMG_DS038861,Nephrogenic Syndrome of Inappropriate Antidiuresis | nephrogenic syndrome of inappropriate antidiuresis
BMGC_DS10746,BMG_DS038863,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | syndromic X-linked intellectual disability Claes-Jensen type"
BMGC_DS10747,BMG_DS038864,"Martin-Probst Deafness-Mental Retardation Syndrome | deafness-intellectual disability, Martin-Probst type syndrome"
BMGC_DS10748,BMG_DS038865,"intellectual disability, X-linked 82"
BMGC_DS10749,BMG_DS038866,"FANCONI ANEMIA, COMPLEMENTATION GROUP B | Fanconi anemia complementation group B"
BMGC_DS10750,BMG_DS038867,Premature Ovarian Failure 2a | premature ovarian failure 2A
BMGC_DS10751,BMG_DS038868,Ovarian Dysgenesis 2 | ovarian dysgenesis 2
BMGC_DS10752,BMG_DS038869,Premature Ovarian Failure 4 | ovarian dysgenesis 2 | premature ovarian failure 4
BMGC_DS10753,BMG_DS038871,"intellectual disability, X-linked 84"
BMGC_DS10754,BMG_DS038872,"intellectual disability, X-linked 45"
BMGC_DS10755,BMG_DS038873,"autism, susceptibility to, X-linked 3"
BMGC_DS10756,BMG_DS038874,"Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders | X-linked epilepsy with variable learning disabilities and behavior disorders"
BMGC_DS10757,BMG_DS038875,"Spinal Muscular Atrophy, Distal, X-Linked 3 | X-linked distal spinal muscular atrophy 3 | X-linked distal spinal muscular atrophy type 3"
BMGC_DS10758,BMG_DS038876,"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | X-linked intellectual disability-cerebellar hypoplasia syndrome"
BMGC_DS10759,BMG_DS038878,"CONE-ROD DYSTROPHY, X-LINKED, 3 | X-linked cone-rod dystrophy 3"
BMGC_DS10760,BMG_DS038879,"Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"
BMGC_DS10761,BMG_DS038882,"intellectual disability, X-linked 77"
BMGC_DS10762,BMG_DS038883,"intellectual disability, X-linked 46"
BMGC_DS10763,BMG_DS038884,"Stocco dos Santos syndrome | X-linked intellectual disability, Stocco dos Santos type"
BMGC_DS10764,BMG_DS038885,"intellectual disability, X-linked 81"
BMGC_DS10765,BMG_DS038886,"autism, susceptibility to, X-linked 2"
BMGC_DS10766,BMG_DS038887,"autism, susceptibility to, X-linked 1"
BMGC_DS10767,BMG_DS038888,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE | syndromic X-linked intellectual disability Hedera type"
BMGC_DS10768,BMG_DS038889,FG syndrome 4
BMGC_DS10769,BMG_DS038890,FG SYNDROME 3 | FG syndrome 3
BMGC_DS10770,BMG_DS038894,RETINITIS PIGMENTOSA 3 | retinitis pigmentosa 3
BMGC_DS10771,BMG_DS038895,Perisylvian syndrome | bilateral perisylvian polymicrogyria
BMGC_DS10772,BMG_DS038896,"intellectual disability, X-linked 63"
BMGC_DS10773,BMG_DS038899,Dyserythropoietic Anemia with Thrombocytopenia | GATA1-Related X-Linked Cytopenia
BMGC_DS10774,BMG_DS038902,"intellectual disability, X-linked 73"
BMGC_DS10775,BMG_DS038903,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE | X-linked intellectual disability, Cabezas type"
BMGC_DS10776,BMG_DS038904,"Creatine deficiency, X-linked | creatine transporter deficiency"
BMGC_DS10777,BMG_DS038906,"intellectual disability, X-linked 53"
BMGC_DS10778,BMG_DS038907,"Lesch-Nyhan Syndrome, Neurologic Variant"
BMGC_DS10779,BMG_DS038908,FG SYNDROME 2 | FG syndrome 2
BMGC_DS10780,BMG_DS038909,"Agammaglobulinemia, X-linked, type 2 | immunodeficiency 61"
BMGC_DS10781,BMG_DS038911,"Neutropenia, Severe Congenital, X-Linked | X-linked severe congenital neutropenia"
BMGC_DS10782,BMG_DS038912,"Ectodermal dysplasia, hypohidrotic, with immune deficiency | ectodermal dysplasia and immune deficiency"
BMGC_DS10783,BMG_DS038913,ectodermal dysplasia and immunodeficiency 1
BMGC_DS10784,BMG_DS038914,"IMAGe syndrome | Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome | Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder)"
BMGC_DS10785,BMG_DS038915,URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME | Uruguay Faciocardiomusculoskeletal syndrome
BMGC_DS10786,BMG_DS038917,"Goiter, Multinodular 2 | goiter, multinodular 2"
BMGC_DS10787,BMG_DS038919,"intellectual disability, X-linked 72"
BMGC_DS10788,BMG_DS038921,"Spastic paraplegia 16, X-linked | hereditary spastic paraplegia 16"
BMGC_DS10789,BMG_DS038922,Siderius X-linked mental retardation syndrome | syndromic X-linked intellectual disability Siderius type
BMGC_DS10790,BMG_DS038923,Abidi X-linked mental retardation syndrome | syndromic X-linked intellectual disability Abidi type
BMGC_DS10791,BMG_DS038924,Armfield X-Linked Mental Retardation Syndrome | Armfield syndrome
BMGC_DS10792,BMG_DS038925,Lubs X-linked intellectual disability syndrome | Lubs X-linked mental retardation syndrome | MECP2 duplication syndrome | Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) | Proximal Xq28 duplication syndrome | syndromic X-linked intellectual disability Lubs type
BMGC_DS10793,BMG_DS038926,"Roifman syndrome | Roifman syndrome (disorder) | Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome"
BMGC_DS10794,BMG_DS038927,"Ptosis, Hereditary Congenital 2 | ptosis, hereditary congenital 2"
BMGC_DS10795,BMG_DS038928,Terminal Osseous Dysplasia and Pigmentary Defects | terminal osseous dysplasia | terminal osseous dysplasia-pigmentary defects syndrome
BMGC_DS10796,BMG_DS038929,"Christianson syndrome | Mental retardation X-linked, South African type"
BMGC_DS10797,BMG_DS038930,HOYERAAL-HREIDARSSON SYNDROME | Hoyeraal-Hreidarsson syndrome | X-linked dyskeratosis congenita
BMGC_DS10798,BMG_DS038931,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 11 | syndromic X-linked intellectual disability Shashi type"
BMGC_DS10799,BMG_DS038933,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY | spondyloepimetaphyseal dysplasia, Bieganski type"
BMGC_DS10800,BMG_DS038934,testicular germ cell tumor 1
BMGC_DS10801,BMG_DS038936,Myotubular Myopathy with Abnormal Genital Development | X-linked myotubular myopathy-abnormal genitalia syndrome
BMGC_DS10802,BMG_DS038937,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 7 | syndromic X-linked intellectual disability 7"
BMGC_DS10803,BMG_DS038938,"Lissencephaly, X-Linked, 2 | X-linked lissencephaly with abnormal genitalia"
BMGC_DS10804,BMG_DS038939,Hydranencephaly and Abnormal Genitalia
BMGC_DS10805,BMG_DS038940,"EPISODIC MUSCLE WEAKNESS, X-LINKED | episodic muscle weakness, X-linked"
BMGC_DS10806,BMG_DS038941,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 | intellectual disability, X-linked 58 | non-syndromic X-linked intellectual disability 58"
BMGC_DS10807,BMG_DS038942,Lethal variant of Simpson Golabi Behmel syndrome | Simpson Golabi Behmel syndrome type 2 | Simpson Golabi Behmel syndrome type 2 (disorder) | Simpson-Golabi-Behmel syndrome type 2
BMGC_DS10808,BMG_DS038944,"AMME complex | Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"
BMGC_DS10809,BMG_DS038947,"Microphthalmia, syndromic 2 | microphthalmia, syndromic 2 | syndromic microphthalmia 2"
BMGC_DS10810,BMG_DS038948,"ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED | arthrogryposis, congenital, lower limb, X-linked"
BMGC_DS10811,BMG_DS038949,"Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder) | MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome | MEHMO syndrome | Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome"
BMGC_DS10812,BMG_DS038950,"prostate cancer, hereditary, X-linked 1"
BMGC_DS10813,BMG_DS038952,Juvenile-onset dystonia
BMGC_DS10814,BMG_DS038953,"Bartter disease type 3 | Bartter syndrome, type 3"
BMGC_DS10815,BMG_DS038954,"Bartter Syndrome, Type 3, with Hypocalciuria"
BMGC_DS10816,BMG_DS038955,"Meckel syndrome type 3 | Meckel syndrome, type 3"
BMGC_DS10817,BMG_DS038957,Spinocerebellar ataxia 19 | spinocerebellar ataxia type 19/22
BMGC_DS10818,BMG_DS038958,isolated focal cortical dysplasia type II
BMGC_DS10819,BMG_DS038959,"Focal Cortical Dysplasia of Taylor, Type IIa | isolated focal cortical dysplasia type IIa"
BMGC_DS10820,BMG_DS038960,"CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY"
BMGC_DS10821,BMG_DS038961,"Focal Cortical Dysplasia of Taylor, Type IIb"
BMGC_DS10822,BMG_DS038962,"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1 | coronary heart disease, susceptibility to, 1"
BMGC_DS10823,BMG_DS038963,Lathosterolosis | Lathosterolosis (disorder) | Sterol C5 desaturase deficiency | lathosterolosis
BMGC_DS10824,BMG_DS038965,Smith-McCort dysplasia
BMGC_DS10825,BMG_DS038966,odontoid hypoplasia
BMGC_DS10826,BMG_DS038968,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 | autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | autosomal recessive spinocerebellar ataxia 4"
BMGC_DS10827,BMG_DS038969,Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze | HGPPS - horizontal gaze palsy with progressive scoliosis | Horizontal gaze palsy with progressive scoliosis | Horizontal gaze palsy with progressive scoliosis (disorder)
BMGC_DS10828,BMG_DS038970,cataract 27
BMGC_DS10829,BMG_DS038971,CONE-ROD DYSTROPHY 10 | cone-rod dystrophy 10
BMGC_DS10830,BMG_DS038973,"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 | asthma-related traits, susceptibility to, 1"
BMGC_DS10831,BMG_DS038974,Autoimmune Lymphoproliferative Syndrome | Autoimmune Lymphoproliferative Syndrome Type 2B | autoimmune lymphoproliferative syndrome | autoimmune lymphoproliferative syndrome type 2B
BMGC_DS10832,BMG_DS038975,"SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 7"
BMGC_DS10833,BMG_DS038978,"DEAFNESS, AUTOSOMAL RECESSIVE 33 | autosomal recessive nonsyndromic hearing loss 33"
BMGC_DS10834,BMG_DS038979,"Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration | hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration"
BMGC_DS10835,BMG_DS038983,Thyroid Dyshormonogenesis 6 | thyroid dyshormonogenesis 6
BMGC_DS10836,BMG_DS038984,"Deafness, Autosomal Recessive | hearing loss, autosomal recessive"
BMGC_DS10837,BMG_DS038985,Amish lethal microcephaly | Amish lethal microcephaly (disorder) | Amish microcephaly
BMGC_DS10838,BMG_DS038987,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I | autosomal recessive limb-girdle muscular dystrophy type 2I"
BMGC_DS10839,BMG_DS038988,"Spastic paraplegia 19, autosomal dominant | hereditary spastic paraplegia 19"
BMGC_DS10840,BMG_DS038989,MOYAMOYA DISEASE 2 | Moyamoya disease 2
BMGC_DS10841,BMG_DS038990,SPINOCEREBELLAR ATAXIA 17 | spinocerebellar ataxia type 17
BMGC_DS10842,BMG_DS038991,SPECIFIC LANGUAGE IMPAIRMENT 3 | specific language impairment 3
BMGC_DS10843,BMG_DS038993,"Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | multiple epiphyseal dysplasia, Al-Gazali type"
BMGC_DS10844,BMG_DS038995,"nasopharyngeal carcinoma, susceptibility to, 1"
BMGC_DS10845,BMG_DS038996,"Deafness, Autosomal Recessive 30 | autosomal recessive nonsyndromic hearing loss 30"
BMGC_DS10846,BMG_DS038997,Joubert syndrome 4 | Joubert syndrome with renal defect
BMGC_DS10847,BMG_DS038998,Anauxetic dysplasia | Spondyloepimetaphyseal dysplasia Menger type | Spondyloepimetaphyseal dysplasia anauxetic type | Spondyloepimetaphyseal dysplasia anauxetic type (disorder) | anauxetic dysplasia
BMGC_DS10848,BMG_DS039000,"Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 | autosomal recessive distal hereditary motor neuronopathy 3 | neuronopathy, distal hereditary motor, autosomal recessive 3"
BMGC_DS10849,BMG_DS039001,"Aortic Aneurysm, Familial Thoracic 2 | aortic aneurysm, familial thoracic 2"
BMGC_DS10850,BMG_DS039003,"DEAFNESS, AUTOSOMAL RECESSIVE 31 | autosomal recessive nonsyndromic hearing loss 31"
BMGC_DS10851,BMG_DS039004,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 | multiple epiphyseal dysplasia 5 | multiple epiphyseal dysplasia type 5"
BMGC_DS10852,BMG_DS039006,"PARKINSON DISEASE 8, AUTOSOMAL DOMINANT | Parkinson's disease 8 | autosomal dominant Parkinson disease 8"
BMGC_DS10853,BMG_DS039007,"Deafness, Autosomal Recessive 22 | autosomal recessive nonsyndromic hearing loss 22"
BMGC_DS10854,BMG_DS039008,"Deafness, Autosomal Dominant 21 | autosomal dominant nonsyndromic hearing loss 21"
BMGC_DS10855,BMG_DS039009,"Brachydactyly, Type A1, B | brachydactyly type A1B"
BMGC_DS10856,BMG_DS039010,SENIOR-LOKEN SYNDROME 4 | Senior-Loken syndrome 4
BMGC_DS10857,BMG_DS039011,Senior-Loken Syndrome 3 | senior-loken syndrome 3
BMGC_DS10858,BMG_DS039012,"Hyperreninemic Hypoaldosteronism, Familial, 2 | familial hyperreninemic hypoaldosteronism type 2"
BMGC_DS10859,BMG_DS039014,NEPHRONOPHTHISIS 4 | nephronophthisis 4
BMGC_DS10860,BMG_DS039015,"COPD, severe early onset | PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET"
BMGC_DS10861,BMG_DS039016,Oculocutaneous albinism type 1B | oculocutaneous albinism type 1B | oculocutaneous albinism type IB
BMGC_DS10862,BMG_DS039017,"USHER SYNDROME, TYPE IG | Usher syndrome type 1G"
BMGC_DS10863,BMG_DS039018,"ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | temperature-sensitive oculocutaneous albinism type 1"
BMGC_DS10864,BMG_DS039020,"Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch | symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch"
BMGC_DS10865,BMG_DS039022,"Vascular Malformation, Primary Intraosseous | primary intraosseous venous malformation"
BMGC_DS10866,BMG_DS039023,ALZHEIMER DISEASE 4 | Alzheimer disease 4 | Alzheimer's disease 4
BMGC_DS10867,BMG_DS039024,Carney Stratakis dyad | Carney Stratakis syndrome | Carney-Stratakis syndrome | Paraganglioma and gastric stromal sarcoma syndrome | Paraganglioma and gastric stromal sarcoma syndrome (disorder)
BMGC_DS10868,BMG_DS039025,"pancreatic cancer, susceptibility to, 1"
BMGC_DS10869,BMG_DS039026,"POLYMICROGYRIA, BILATERAL FRONTOPARIETAL | bilateral frontoparietal polymicrogyria"
BMGC_DS10870,BMG_DS039028,Cree Mental Retardation Syndrome | Cree intellectual disability syndrome
BMGC_DS10871,BMG_DS039029,Cardioneuromyopathy with Hyaline Masses and Nemaline Rods | Cardioneuromyopathy with hyaline masses and nemaline rods
BMGC_DS10872,BMG_DS039030,"Faciomandibular myoclonus, nocturnal | parasomnia, sleep bruxism type"
BMGC_DS10873,BMG_DS039031,"Digital Arthropathy-Brachydactyly, Familial | familial digital arthropathy-brachydactyly"
BMGC_DS10874,BMG_DS039032,FRIEDREICH ATAXIA WITH RETAINED REFLEXES | Friedreich ataxia with retained reflexes
BMGC_DS10875,BMG_DS039034,"anorexia nervosa, susceptibility to, 1"
BMGC_DS10876,BMG_DS039035,Peripheral Arterial Occlusive Disease 1 | peripheral arterial occlusive disease 1
BMGC_DS10877,BMG_DS039036,GLUT1 deficiency syndrome | Glut1 Deficiency Syndrome | glucose transporter type 1 deficiency syndrome
BMGC_DS10878,BMG_DS039037,hemifacial myohyperplasia
BMGC_DS10879,BMG_DS039038,MOMES Syndrome | intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
BMGC_DS10880,BMG_DS039039,Astigmatism | Hyperopic Astigmatism
BMGC_DS10881,BMG_DS039040,"MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET | distal myopathy with anterior tibial onset"
BMGC_DS10882,BMG_DS039041,"Azoospermia, Nonobstructive"
BMGC_DS10883,BMG_DS039042,"Primary ciliary dyskinesia, 2 | primary ciliary dyskinesia 2"
BMGC_DS10884,BMG_DS039043,"Hyperinsulinemic hypoglycemia, familial, 6 | hyperinsulinism-hyperammonemia syndrome"
BMGC_DS10885,BMG_DS039044,SECKEL SYNDROME 2 | Seckel syndrome 2
BMGC_DS10886,BMG_DS039046,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 | multiple epiphyseal dysplasia 4 | multiple epiphyseal dysplasia type 4"
BMGC_DS10887,BMG_DS039047,Van der Woude syndrome 2 | van der Woude syndrome 2
BMGC_DS10888,BMG_DS039048,SPECIFIC LANGUAGE IMPAIRMENT 2 | specific language impairment 2
BMGC_DS10889,BMG_DS039049,SPECIFIC LANGUAGE IMPAIRMENT 1 | specific language impairment 1
BMGC_DS10890,BMG_DS039051,"Deafness, Autosomal Dominant 36 | autosomal dominant nonsyndromic hearing loss 36"
BMGC_DS10891,BMG_DS039052,"Dyskinesia, Familial, with Facial Myokymia"
BMGC_DS10892,BMG_DS039053,KUFOR-RAKEB SYNDROME | Kufor-Rakeb syndrome
BMGC_DS10893,BMG_DS039055,SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES | spongiform encephalopathy with neuropsychiatric features
BMGC_DS10894,BMG_DS039056,"CARDIOMYOPATHY, DILATED, 1L | dilated cardiomyopathy 1L"
BMGC_DS10895,BMG_DS039059,"nonarteritic anterior ischemic optic neuropathy, susceptibility to"
BMGC_DS10896,BMG_DS039061,Glycine N-methyltransferase deficiency | Hypermethioninaemia due to GNMT (glycine N-methyltransferase) deficiency | Hypermethioninaemia due to deficiency of glycine N-methyltransferase | Hypermethioninemia due to GNMT (glycine N-methyltransferase) deficiency | Hypermethioninemia due to deficiency of glycine N-methyltransferase | Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder) | glycine N-methyltransferase deficiency
BMGC_DS10897,BMG_DS039063,"melanoma, uveal, susceptibility to, 2"
BMGC_DS10898,BMG_DS039064,"melanoma, uveal, susceptibility to, 1"
BMGC_DS10899,BMG_DS039065,SPINOCEREBELLAR ATAXIA 15 | spinocerebellar ataxia type 15 | spinocerebellar ataxia type 15/16
BMGC_DS10900,BMG_DS039066,"glaucoma, normal tension, susceptibility to"
BMGC_DS10901,BMG_DS039068,Amyotrophic Lateral Sclerosis 3 | amyotrophic lateral sclerosis type 3
BMGC_DS10902,BMG_DS039070,"MUSCULAR DYSTROPHY, CONGENITAL, 1C | muscular dystrophy-dystroglycanopathy type B5"
BMGC_DS10903,BMG_DS039071,Waardenburg Syndrome | Waardenburg Syndrome Type 1 | Waardenburg syndrome | Waardenburg syndrome type 1
BMGC_DS10904,BMG_DS039072,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F | Charcot-Marie-Tooth disease axonal type 2F"
BMGC_DS10905,BMG_DS039073,DNA ligase IV deficiency | LIG4 Syndrome
BMGC_DS10906,BMG_DS039074,"polysubstance abuse, susceptibility to"
BMGC_DS10907,BMG_DS039075,vitiligo-associated multiple autoimmune disease susceptibility 1
BMGC_DS10908,BMG_DS039076,"Oculocutaneous Albinism, Type IV | oculocutaneous albinism type 4"
BMGC_DS10909,BMG_DS039077,"Episodic Ataxia, Type 3 | episodic ataxia type 3"
BMGC_DS10910,BMG_DS039078,"EPISODIC ATAXIA, TYPE 4 | episodic ataxia type 4"
BMGC_DS10911,BMG_DS039080,Homozygous 11p15-p14 Deletion Syndrome | homozygous 11P15-p14 deletion syndrome
BMGC_DS10912,BMG_DS039082,PHACE association | PHACE syndrome
BMGC_DS10913,BMG_DS039083,"Charcot-Marie-Tooth Disease, Dominant Intermediate A | Charcot-Marie-Tooth disease dominant intermediate A | Charcot-Marie-Tooth disease, dominant intermediate A"
BMGC_DS10914,BMG_DS039084,"Charcot-Marie-Tooth Disease, Dominant Intermediate B | Charcot-Marie-Tooth disease dominant intermediate B"
BMGC_DS10915,BMG_DS039085,"Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia"
BMGC_DS10916,BMG_DS039086,Ovarioleucodystrophy | Ovarioleukodystrophy | Ovarioleukodystrophy (disorder)
BMGC_DS10917,BMG_DS039087,"Deafness, Autosomal Dominant 30 | autosomal dominant nonsyndromic hearing loss 30"
BMGC_DS10918,BMG_DS039088,Persistent Polyclonal B-Cell Lymphocytosis | persistent polyclonal B-cell lymphocytosis
BMGC_DS10919,BMG_DS039089,HUNTINGTON DISEASE-LIKE 2 | Huntington disease-like 2
BMGC_DS10920,BMG_DS039090,Ehlers-Danlos syndrome caused by tenascin-X deficiency | Ehlers-Danlos syndrome due to tenascin-X deficiency
BMGC_DS10921,BMG_DS039091,Hypotonia-Cystinuria Syndrome | hypotonia-cystinuria syndrome
BMGC_DS10922,BMG_DS039093,"migraine, familial typical, susceptibility to, 2"
BMGC_DS10923,BMG_DS039094,"Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency | X-linked intellectual disability with isolated growth hormone deficiency"
BMGC_DS10924,BMG_DS039095,Lissencephaly and agenesis of corpus callosum
BMGC_DS10925,BMG_DS039096,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 | intellectual disability, X-linked 50 | non-syndromic X-linked intellectual disability 50"
BMGC_DS10926,BMG_DS039097,"Spondyloepimetaphyseal Dysplasia, X-Linked | X-linked spondyloepimetaphyseal dysplasia"
BMGC_DS10927,BMG_DS039098,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9 | developmental and epileptic encephalopathy 9 | developmental and epileptic encephalopathy, 9"
BMGC_DS10928,BMG_DS039099,"X Inactivation, Familial Skewed, 1 | X inactivation, familial skewed, 1"
BMGC_DS10929,BMG_DS039100,"CONE-ROD DYSTROPHY, X-LINKED, 2 | X-linked cone-rod dystrophy 2"
BMGC_DS10930,BMG_DS039101,"CGF1 | COGNITIVE FUNCTION 1, SOCIAL"
BMGC_DS10931,BMG_DS039102,Woods Black Norbury syndrome | X-linked immunoneurologic disorder | X-linked immunoneurologic disorder (disorder)
BMGC_DS10932,BMG_DS039103,"Fetal akinesia syndrome, X-linked | fetal akinesia syndrome, X-linked"
BMGC_DS10933,BMG_DS039104,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | congenital stationary night blindness 2A"
BMGC_DS10934,BMG_DS039106,Classical Lissencephalies and Subcortical Band Heterotopias | X-Linked Lissencephaly | chromosome 17p13.1 deletion syndrome
BMGC_DS10935,BMG_DS039107,"SUBCORTICAL BAND HETEROTOPIA, X-LINKED | X-linked lissencephaly 1"
BMGC_DS10936,BMG_DS039108,Classical Lissencephalies and Subcortical Band Heterotopias | Subcortical Band Heterotopia | chromosome 17p13.1 deletion syndrome | subcortical band heterotopia
BMGC_DS10937,BMG_DS039109,"Deafness, X-Linked 4 | hearing loss, X-linked 4"
BMGC_DS10938,BMG_DS039111,"Periventricular Heterotopia, X-Linked | Periventricular Nodular Heterotopia | heterotopia, periventricular, X-linked dominant | periventricular nodular heterotopia"
BMGC_DS10939,BMG_DS039113,"46,XY sex reversal 2 | DOSAGE-SENSITIVE SEX REVERSAL"
BMGC_DS10940,BMG_DS039114,Dent disease 1 | Dent disease type 1
BMGC_DS10941,BMG_DS039116,CHIME syndrome | Zunich neuroectodermal syndrome
BMGC_DS10942,BMG_DS039118,"Xeroderma pigmentosum, variant type | xeroderma pigmentosum variant type"
BMGC_DS10943,BMG_DS039119,"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | xeroderma pigmentosum group E"
BMGC_DS10944,BMG_DS039122,"WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS | hypotrichosis 8 | wooly hair, autosomal recessive 1, with or without hypotrichosis"
BMGC_DS10945,BMG_DS039123,"Mental retardation Wolff type | intellectual disability, Wolff type"
BMGC_DS10946,BMG_DS039125,WHITE FORELOCK WITH MALFORMATIONS | white forelock with malformations
BMGC_DS10947,BMG_DS039126,"Whistling face syndrome, recessive form | whistling face syndrome, recessive form"
BMGC_DS10948,BMG_DS039128,"Heterozygous OSMED (otospondylomegaepiphyseal dysplasia) | Heterozygous otospondylomegaepiphyseal dysplasia | Pierre Robin syndrome with fetal chondrodysplasia | Weissenbacher-Zweymuller syndrome | Weissenbacher-Zweymuller syndrome (disorder) | otospondylomegaepiphyseal dysplasia, autosomal dominant"
BMGC_DS10949,BMG_DS039129,"WAARDENBURG SYNDROME, TYPE 4A | Waardenburg syndrome type 4A"
BMGC_DS10950,BMG_DS039131,Pontocerebellar Hypoplasia Type 2A | pontocerebellar hypoplasia type 2A
BMGC_DS10951,BMG_DS039134,Ataxia with isolated vitamin E deficiency | Ataxia with vitamin E deficiency | Ataxia with vitamin E deficiency (disorder) | Familial isolated vitamin E deficiency | Friedreich ataxia phenotype with selective vitamin E deficiency | Friedreich-like ataxia | familial isolated deficiency of vitamin E
BMGC_DS10952,BMG_DS039135,"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | combined deficiency of vitamin K-dependent clotting factors 1 | vitamin K-dependent clotting factors, combined deficiency of, type 1"
BMGC_DS10953,BMG_DS039136,"Methylmalonic Aciduria and Homocystinuria, CblD Type | methylmalonic aciduria and homocystinuria type cblD"
BMGC_DS10954,BMG_DS039137,"Homocystinuria, CblD Type, Variant 1"
BMGC_DS10955,BMG_DS039138,"Methylmalonic Aciduria, CblD Type, Variant 2 | vitamin B12-responsive methylmalonic acidemia, type cblDv2"
BMGC_DS10956,BMG_DS039139,CblC - Cobalamin locus C | CblC methylmalonic acidaemia and homocystinuria | CblC methylmalonic acidemia and homocystinuria | Cobalamin C disease | Cobalamin C disease (disorder) | Cobalamin locus C variant | methylmalonic aciduria and homocystinuria type cblC
BMGC_DS10957,BMG_DS039140,"Methylmalonic Aciduria and Homocystinuria, CblF Type | methylmalonic aciduria and homocystinuria type cblF"
BMGC_DS10958,BMG_DS039141,Visceral myopathy familial external ophthalmoplegia | mitochondrial DNA depletion syndrome 1 | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 8b | oculogastrointestinal muscular dystrophy
BMGC_DS10959,BMG_DS039142,Isolated hypoplasia of the right ventricle | isolated right ventricular hypoplasia
BMGC_DS10960,BMG_DS039143,Vascular Hyalinosis | vascular hyalinosis
BMGC_DS10961,BMG_DS039144,Van Bogaert-Hozay syndrome | van Bogaert-Hozay syndrome
BMGC_DS10962,BMG_DS039145,VACTERL Association With Hydrocephalus | VACTERL with hydrocephalus
BMGC_DS10963,BMG_DS039147,"USHER SYNDROME, TYPE IC | Usher syndrome type 1C"
BMGC_DS10964,BMG_DS039148,"USHER SYNDROME, TYPE IIA | Usher syndrome type 2A"
BMGC_DS10965,BMG_DS039151,Ulnar Agenesis and Endocardial Fibroelastosis | ulnar agenesis and endocardial fibroelastosis
BMGC_DS10966,BMG_DS039152,Ulnar Hypoplasia with Mental Retardation | ulna hypoplasia-intellectual disability syndrome
BMGC_DS10967,BMG_DS039153,"Al Awadi syndrome | phocomelia, Schinzel type"
BMGC_DS10968,BMG_DS039156,T-substance anomaly
BMGC_DS10969,BMG_DS039157,Distal amyotrophy
BMGC_DS10970,BMG_DS039159,Oliver-McFarlane syndrome | trichomegaly-retina pigmentary degeneration-dwarfism syndrome
BMGC_DS10971,BMG_DS039160,"Tricarboxylic Acid Cycle, Defect of | tricarboxylic acid cycle, defect of"
BMGC_DS10972,BMG_DS039161,"TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF | tongue, pigmented fungiform papillae of"
BMGC_DS10973,BMG_DS039164,"Graves disease, susceptibility to, 1"
BMGC_DS10974,BMG_DS039165,Thyroid Dyshormonogenesis 1 | thyroid dyshormonogenesis 1
BMGC_DS10975,BMG_DS039166,Thymic-Renal-Anal-Lung dysplasia | thymic-renal-anal-lung dysplasia
BMGC_DS10976,BMG_DS039167,Thyrocerebral-retinal syndrome | thyrocerebrorenal syndrome
BMGC_DS10977,BMG_DS039168,"thymoma, familial"
BMGC_DS10978,BMG_DS039170,"Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness | upper limb defect-eye and ear abnormalities syndrome"
BMGC_DS10979,BMG_DS039171,"thumb, distal hyperextensibility of"
BMGC_DS10980,BMG_DS039172,"Thumb Agenesis, Short Stature, And Immunodeficiency | obsolete absent thumb-short stature-immunodeficiency syndrome"
BMGC_DS10981,BMG_DS039174,inherited threoninemia
BMGC_DS10982,BMG_DS039175,3-M syndrome | Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
BMGC_DS10983,BMG_DS039176,Thoracomelic Dysplasia | thoracomelic dysplasia
BMGC_DS10984,BMG_DS039178,"Thanatophoric dysplasia Glasgow variant | thanatophoric dysplasia, Glasgow variant"
BMGC_DS10985,BMG_DS039179,"testes, rudimentary"
BMGC_DS10986,BMG_DS039180,"teratoma, pineal"
BMGC_DS10987,BMG_DS039183,Teebi Shaltout syndrome | Teebi Shaltout syndrome (disorder) | Teebi-Shaltout syndrome
BMGC_DS10988,BMG_DS039184,"Tay-Sachs Disease, Juvenile"
BMGC_DS10989,BMG_DS039185,"Hexosaminidase A Deficiency, Adult Type | Tay-Sachs disease, B variant, adult form"
BMGC_DS10990,BMG_DS039187,"Tay-Sachs Disease, Variant B1 | Tay-Sachs disease, B1 variant"
BMGC_DS10991,BMG_DS039189,Hexosaminidase alpha-Subunit Deficiency (Variant B) | Tay-Sachs Disease
BMGC_DS10992,BMG_DS039190,Tatsumi Factor Deficiency | Tatsumi factor deficiency
BMGC_DS10993,BMG_DS039192,SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | spondylocarpotarsal synostosis syndrome
BMGC_DS10994,BMG_DS039193,Cold-induced sweating syndrome 1
BMGC_DS10995,BMG_DS039194,generalized dystonia
BMGC_DS10996,BMG_DS039195,"Sucrosuria, Hiatus Hernia and Mental Retardation | sucrosuria, hiatus hernia and intellectual disability"
BMGC_DS10997,BMG_DS039197,"SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | spondylometaepiphyseal dysplasia, short limb-hand type"
BMGC_DS10998,BMG_DS039198,"Spondyloepiphyseal dysplasia tarda, Toledo type | brachyolmia type 1, toledo type"
BMGC_DS10999,BMG_DS039199,"Spondyloepiphyseal Dysplasia Tarda with Mental Retardation | spondyloepiphyseal dysplasia tarda with intellectual disability | spondyloepiphyseal dysplasia tarda, Kohn type"
BMGC_DS11000,BMG_DS039200,"Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive | spondyloepiphyseal dysplasia tarda, autosomal recessive"
BMGC_DS11001,BMG_DS039201,"Brachyolmia, recessive Hobaek type | brachyolmia type 1, Hobaek type"
BMGC_DS11002,BMG_DS039202,Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies | spondylocostal dysostosis-anal and genitourinary malformations syndrome
BMGC_DS11003,BMG_DS039203,Mousa Al din Al Nassar syndrome | spastic ataxia-corneal dystrophy syndrome
BMGC_DS11004,BMG_DS039204,Corneal cerebellar syndrome | Der Kaloustian Jarudi Khoury syndrome | Spinocerebellar degeneration and corneal dystrophy syndrome | Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) | corneal-cerebellar syndrome
BMGC_DS11005,BMG_DS039206,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 | autosomal recessive cerebellar ataxia-blindness-deafness syndrome | autosomal recessive spinocerebellar ataxia 3"
BMGC_DS11006,BMG_DS039207,"Infantile onset spinocerebellar ataxia | Infantile onset spinocerebellar ataxia (disorder) | Ohaha syndrome | Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome | mitochondrial DNA depletion syndrome 7 | mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"
BMGC_DS11007,BMG_DS039209,"Spinal muscular atrophy, Ryukyuan type | spinal muscular atrophy, Ryukyuan type"
BMGC_DS11008,BMG_DS039211,Spinal Muscular Atrophy with Mental Retardation | spinal muscular atrophy with intellectual disability
BMGC_DS11009,BMG_DS039212,"Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation | spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"
BMGC_DS11010,BMG_DS039213,"Spastic Paresis, Glaucoma, and Mental Retardation | spastic paraplegia-glaucoma-intellectual disability syndrome"
BMGC_DS11011,BMG_DS039215,"Spastic Paraplegia 5a, Autosomal Recessive | hereditary spastic paraplegia 5A"
BMGC_DS11012,BMG_DS039216,"Spastic paraplegia 15, autosomal recessive | hereditary spastic paraplegia 15"
BMGC_DS11013,BMG_DS039217,Spastic diplegia infantile type | spastic diplegia and intellectual disability
BMGC_DS11014,BMG_DS039218,"Charlevoix-Saguenay spastic ataxia | SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE"
BMGC_DS11015,BMG_DS039219,Spastic Ataxia | spastic ataxia
BMGC_DS11016,BMG_DS039220,"Insulin-Like Growth Factor I, Resistance To | growth delay due to insulin-like growth factor I resistance"
BMGC_DS11017,BMG_DS039222,sodium-potassium-ATPase activity of red cell
BMGC_DS11018,BMG_DS039223,peeling skin syndrome | peeling skin syndrome 1
BMGC_DS11019,BMG_DS039226,"Severe combined immunodeficiency, atypical | immunodeficiency 48"
BMGC_DS11020,BMG_DS039229,Second Metatarsal-Metacarpal Syndrome | second metatarsal-metacarpal syndrome
BMGC_DS11021,BMG_DS039230,Rodrigues blindness | ectodermal dysplasia-blindness syndrome
BMGC_DS11022,BMG_DS039231,"Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction | rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction"
BMGC_DS11023,BMG_DS039232,"Robinow syndrome, autosomal recessive"
BMGC_DS11024,BMG_DS039233,"Richieri Costa Pereira syndrome | Richieri Costa-Pereira syndrome | Robin sequence with cleft mandible and limb anomalies syndrome | Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome | Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)"
BMGC_DS11025,BMG_DS039234,"Rhizomelic syndrome | rhizomelic syndrome, Urbach type"
BMGC_DS11026,BMG_DS039235,"Myoglobinuria, Acute Recurrent, Autosomal Recessive | myoglobinuria, acute recurrent, autosomal recessive"
BMGC_DS11027,BMG_DS039236,"Rh-Null, Regulator Type"
BMGC_DS11028,BMG_DS039237,Enhanced S-Cone Syndrome | enhanced S-cone syndrome
BMGC_DS11029,BMG_DS039239,"Retinopathy, Pericentral Pigmentary, Autosomal Recessive | autosomal recessive pericentral pigmentary retinopathy"
BMGC_DS11030,BMG_DS039241,"Retinitis Pigmentosa, Late-Adult Onset | late-adult onset retinitis pigmentosa"
BMGC_DS11031,BMG_DS039242,"Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism | retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome"
BMGC_DS11032,BMG_DS039245,Knobloch syndrome | Retinal detachment and occipital encephalocele | Retinal detachment and occipital encephalocele (disorder) | Retinal detachment and occipital encephalocoele
BMGC_DS11033,BMG_DS039246,Retinal Degeneration and Epilepsy | retinal degeneration and epilepsy
BMGC_DS11034,BMG_DS039248,"Renal, Genital, and Middle Ear Anomalies | renal-genital-middle ear anomalies"
BMGC_DS11035,BMG_DS039249,"Renal tubular acidosis, distal, type 3 | renal tubular acidosis 3"
BMGC_DS11036,BMG_DS039250,Mainzer-Saldino Disease | short-rib thoracic dysplasia 9 with or without polydactyly
BMGC_DS11037,BMG_DS039253,Reese Retinal Dysplasia | Reese retinal dysplasia
BMGC_DS11038,BMG_DS039254,Red skin pigment anomaly of New Guinea | red skin pigment anomaly of new guinea
BMGC_DS11039,BMG_DS039255,Rapadilino syndrome | rapadilino syndrome
BMGC_DS11040,BMG_DS039256,"Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia | radioulnar synostosis-developmental delay-hypotonia syndrome"
BMGC_DS11041,BMG_DS039257,"Radiculoneuropathy, Fatal Neonatal | radiculoneuropathy, fatal neonatal"
BMGC_DS11042,BMG_DS039258,"Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to | hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"
BMGC_DS11043,BMG_DS039259,"EPILEPSY, PYRIDOXINE-DEPENDENT | early-onset vitamin B6-dependent epilepsy 4 | pyridoxine-dependent epilepsy"
BMGC_DS11044,BMG_DS039260,Camera syndrome | Pyknoachondrogenesis | Pyknoachondrogenesis (disorder) | pyknoachondrogenesis
BMGC_DS11045,BMG_DS039262,congenital pulmonary lymphangiectasia
BMGC_DS11046,BMG_DS039263,Pulmonary Bullae Causing Pneumothorax | pulmonary bullae causing pneumothorax
BMGC_DS11047,BMG_DS039264,Pseudouridinuria and Mental Defect | Pseudouridinuria and mental defect
BMGC_DS11048,BMG_DS039265,Holoprosencephaly and postaxial polydactyly syndrome | Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Pseudotrisomy 13 syndrome | holoprosencephaly-postaxial polydactyly syndrome
BMGC_DS11049,BMG_DS039268,Peroxisomal ACYL-COA oxidase deficiency | peroxisomal acyl-CoA oxidase deficiency
BMGC_DS11050,BMG_DS039269,"Fundus dystrophy, pseudoinflammatory recessive form | fundus dystrophy, pseudoinflammatory, recessive form"
BMGC_DS11051,BMG_DS039271,"46,XX disorder of sex development-skeletal anomalies syndrome | Pseudohermaphroditism, Female, with Skeletal Anomalies"
BMGC_DS11052,BMG_DS039272,Prolactin Deficiency with Obesity and Enlarged Testes | prolactin deficiency with obesity and enlarged testes
BMGC_DS11053,BMG_DS039273,Progesterone Resistance | progesterone resistance
BMGC_DS11054,BMG_DS039274,Hyperphenylalaninemia with primapterinuria | pterin-4 alpha-carbinolamine dehydratase 1 deficiency
BMGC_DS11055,BMG_DS039275,prenatal bowing
BMGC_DS11056,BMG_DS039276,"Bartsocas-Papas syndrome 1 | POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE"
BMGC_DS11057,BMG_DS039277,Bonneau Syndrome | polysyndactyly-cardiac malformation syndrome
BMGC_DS11058,BMG_DS039278,"Polyhydramnios, Chronic Idiopathic | polyhydramnios, chronic idiopathic"
BMGC_DS11059,BMG_DS039279,"polysaccharide, storage of unusual"
BMGC_DS11060,BMG_DS039280,"Polyglucosan Body Disease, Adult Form | adult polyglucosan body disease"
BMGC_DS11061,BMG_DS039281,"Infantile polymyoclonus | polymyoclonus, infantile"
BMGC_DS11062,BMG_DS039283,"Gillessen-Kaesbach-Nishimura syndrome | Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia"
BMGC_DS11063,BMG_DS039284,Periportal fibrosis | Periportal fibrosis (disorder)
BMGC_DS11064,BMG_DS039287,Platelet Prostacyclin Receptor Defect | platelet prostacyclin receptor defect
BMGC_DS11065,BMG_DS039289,Kowarski syndrome | short stature due to growth hormone qualitative anomaly
BMGC_DS11066,BMG_DS039290,Achromatopsia 3 | achromatopsia 3
BMGC_DS11067,BMG_DS039292,Pili torti developmental delay neurological abnormalities | pili torti-developmental delay-neurological abnormalities syndrome
BMGC_DS11068,BMG_DS039293,"Glycogen Storage Disease of Heart, Lethal Congenital | lethal congenital glycogen storage disease of heart"
BMGC_DS11069,BMG_DS039294,"Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial | phosphoenolpyruvate carboxykinase deficiency, mitochondrial"
BMGC_DS11070,BMG_DS039295,phenformin 4-hydroxylation
BMGC_DS11071,BMG_DS039298,persistent Mullerian duct syndrome
BMGC_DS11072,BMG_DS039299,Presentey Anomaly | eosinophil peroxidase deficiency
BMGC_DS11073,BMG_DS039300,"peroneus tertius muscle, absence of"
BMGC_DS11074,BMG_DS039301,"Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain | peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain"
BMGC_DS11075,BMG_DS039303,Cousin syndrome | Familial pelvis-scapular dysplasia | Pelviscapular dysplasia | Pelviscapular dysplasia syndrome | Pelviscapular dysplasia syndrome (disorder) | pelviscapular dysplasia
BMGC_DS11076,BMG_DS039305,"Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 | hypomyelinating leukodystrophy 3"
BMGC_DS11077,BMG_DS039306,Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain | Pelger-Huet-like anomaly and episodic fever with abdominal pain
BMGC_DS11078,BMG_DS039307,"PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome | PEHO (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy) syndrome | PEHO syndrome | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder) | Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome"
BMGC_DS11079,BMG_DS039308,"PEHO-like syndrome | PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome | PEHOL (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like) syndrome | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder) | Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome"
BMGC_DS11080,BMG_DS039310,"Supranuclear Palsy, Progressive, 1, Atypical | progressive supranuclear palsy-parkinsonism syndrome"
BMGC_DS11081,BMG_DS039311,Parana Hard Skin Syndrome | Parana hard-skin syndrome
BMGC_DS11082,BMG_DS039314,"Pancreatic Agenesis, Congenital"
BMGC_DS11083,BMG_DS039315,Pallidopyramidal syndrome | Parkinsonian pyramidal syndrome | Parkinsonian pyramidal syndrome (disorder) | parkinsonian-pyramidal syndrome
BMGC_DS11084,BMG_DS039319,PA polymorphism of alpha-2-globulin
BMGC_DS11085,BMG_DS039320,Otoonychoperoneal Syndrome | otoonychoperoneal syndrome
BMGC_DS11086,BMG_DS039321,RAINE SYNDROME | lethal osteosclerotic bone dysplasia
BMGC_DS11087,BMG_DS039322,"Osteopetrosis, mild autosomal recessive form | autosomal recessive osteopetrosis 2"
BMGC_DS11088,BMG_DS039323,"Osteopetrosis, Autosomal Recessive 1 | autosomal recessive osteopetrosis 1"
BMGC_DS11089,BMG_DS039324,"Kaler Garrity Stern syndrome | Osteopenia, intellectual disability, sparse hair syndrome | Osteopenia, intellectual disability, sparse hair syndrome (disorder) | osteopenia-intellectual disability-sparse hair syndrome"
BMGC_DS11090,BMG_DS039325,osteoma of middle ear
BMGC_DS11091,BMG_DS039327,multicentric osteolysis-nodulosis-arthropathy spectrum
BMGC_DS11092,BMG_DS039328,Bruck syndrome 1
BMGC_DS11093,BMG_DS039329,"Osteogenesis Imperfecta, Type IX | osteogenesis imperfecta type 9"
BMGC_DS11094,BMG_DS039330,"Osteogenesis imperfecta congenita, microcephaly, and cataracts | congenital osteogenesis imperfecta-microcephaly-cataracts syndrome"
BMGC_DS11095,BMG_DS039331,"Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski | osteodysplasty, precocious, of Danks, Mayne, and Kozlowski"
BMGC_DS11096,BMG_DS039334,"oral sensibility, disturbance of"
BMGC_DS11097,BMG_DS039335,Optic atrophy 6 | optic atrophy 6
BMGC_DS11098,BMG_DS039336,Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria | ophthalmoplegic neuromuscular disorder with abnormal mitochondria
BMGC_DS11099,BMG_DS039337,autosomal recessive progressive external ophthalmoplegia
BMGC_DS11100,BMG_DS039338,Ophthalmoplegia Totalis with Ptosis and Miosis | ophthalmoplegia totalis with ptosis and miosis
BMGC_DS11101,BMG_DS039339,Onychotrichodysplasia and neutropenia
BMGC_DS11102,BMG_DS039340,Omphalocele cleft palate syndrome lethal | lethal omphalocele-cleft palate syndrome
BMGC_DS11103,BMG_DS039341,Omodysplasia type 1 | autosomal recessive omodysplasia | omodysplasia 1
BMGC_DS11104,BMG_DS039343,Oliver Syndrome | Oliver syndrome
BMGC_DS11105,BMG_DS039344,exstrophy-epispadias complex
BMGC_DS11106,BMG_DS039345,Hunter Jurenka Thompson syndrome | ORC (oculo-renal-cerebellar) syndrome | Oculorenocerebellar syndrome | Severe oculo-renal-cerebellar syndrome | Severe oculo-renal-cerebellar syndrome (disorder) | oculorenocerebellar syndrome
BMGC_DS11107,BMG_DS039347,Oculopalatocerebral Syndrome | oculo-palato-cerebral syndrome
BMGC_DS11108,BMG_DS039349,Mosaic variegated aneuploidy syndrome 1 | mosaic variegated aneuploidy syndrome | mosaic variegated aneuploidy syndrome 1
BMGC_DS11109,BMG_DS039350,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B | congenital stationary night blindness 1B"
BMGC_DS11110,BMG_DS039352,NEUTROPHIL ACTIN DYSFUNCTION | neutrophil actin dysfunction
BMGC_DS11111,BMG_DS039353,"Neutropenia, Lethal Congenital, with Eosinophilia | neutropenia, lethal congenital, with eosinophilia"
BMGC_DS11112,BMG_DS039355,"Neuropathy, Painful | neuropathy, painful"
BMGC_DS11113,BMG_DS039358,GIANT AXONAL NEUROPATHY 1 | giant axonal neuropathy 1
BMGC_DS11114,BMG_DS039360,"Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive | hereditary sensory and autonomic neuropathy with spastic paraplegia"
BMGC_DS11115,BMG_DS039361,NAVAJO NEUROHEPATOPATHY | mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
BMGC_DS11116,BMG_DS039362,Navajo Familial Neurogenic Arthropathy | mitochondrial DNA depletion syndrome 6
BMGC_DS11117,BMG_DS039363,"CEROID LIPOFUSCINOSIS, NEURONAL, 5 | neuronal ceroid lipofuscinosis 5"
BMGC_DS11118,BMG_DS039364,"CEROID LIPOFUSCINOSIS, NEURONAL, 1 | neuronal ceroid lipofuscinosis 1"
BMGC_DS11119,BMG_DS039367,Nephrosis deafness urinary tract digital malformation | nephrosis-deafness-urinary tract-digital malformations syndrome
BMGC_DS11120,BMG_DS039369,Atelosteogenesis de la Chapelle type | Atelosteogenesis type 2 | Atelosteogenesis type 2 (disorder) | atelosteogenesis type II
BMGC_DS11121,BMG_DS039370,De La Chapelle Dysplasia | de la Chapelle dysplasia
BMGC_DS11122,BMG_DS039371,"Autoinflammation, lipodystrophy and dermatosis syndrome | Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) | Japanese autoinflammatory syndrome with lipodystrophy | Nakajo syndrome | Nakajo-Nishimura syndrome | Proteasome-associated autoinflammatory syndrome | proteosome-associated autoinflammatory syndrome"
BMGC_DS11123,BMG_DS039372,Nemaline Myopathy 2 | nemaline myopathy 2
BMGC_DS11124,BMG_DS039375,Leigh Syndrome due to Mitochondrial Complex IV Deficiency
BMGC_DS11125,BMG_DS039377,"Bailey-Bloch congenital myopathy | Congenital myopathy, cleft palate. malignant hyperthermia syndrome | Native American myopathy | Native American myopathy (disorder)"
BMGC_DS11126,BMG_DS039378,Deafness with cataract and skeletal anomaly syndrome | Deafness with cataract and skeletal anomaly syndrome (disorder) | Nathalie syndrome
BMGC_DS11127,BMG_DS039379,Keipert syndrome | Keipert syndrome (disorder) | Nasodigitoacoustic syndrome
BMGC_DS11128,BMG_DS039381,"Myosclerosis, Autosomal Recessive | myosclerosis"
BMGC_DS11129,BMG_DS039382,Minicore Myopathy with External Ophthalmoplegia | congenital multicore myopathy with external ophthalmoplegia
BMGC_DS11130,BMG_DS039383,"Myopathy, Hyaline Body, Autosomal Recessive | myopathy, myosin storage, autosomal recessive"
BMGC_DS11131,BMG_DS039385,"MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE | hereditary myopathy with lactic acidosis due to ISCU deficiency"
BMGC_DS11132,BMG_DS039387,"Myopathy, Granulovacuolar Lobular, with Electrical Myotonia | myopathy, granulovacuolar lobular, with electrical myotonia"
BMGC_DS11133,BMG_DS039388,"Carey-Fineman-Ziter syndrome | Myopathy, congenital nonprogressive with Moebius and Robin sequences"
BMGC_DS11134,BMG_DS039391,myoclonic epilepsy of Lafora 2
BMGC_DS11135,BMG_DS039392,"myoclonic epilepsy, juvenile, susceptibility to, 1"
BMGC_DS11136,BMG_DS039393,"Myeloproliferative Disease, Autosomal Recessive | myeloproliferative disease, autosomal recessive"
BMGC_DS11137,BMG_DS039394,Congenital myasthenic syndrome ib | congenital myasthenic syndrome 10
BMGC_DS11138,BMG_DS039395,"Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors | myasthenia, congenital, refractory to acetylcholinesterase inhibitors"
BMGC_DS11139,BMG_DS039396,"Musk, Inability to Smell | musk, inability to smell"
BMGC_DS11140,BMG_DS039397,"Muscular Hypertonia, Lethal | muscular hypertonia, lethal"
BMGC_DS11141,BMG_DS039398,"Muscular Dystrophy, Congenital, with Rapid Progression | muscular dystrophy, congenital, with rapid progression"
BMGC_DS11142,BMG_DS039399,"Muscular dystrophy, congenital, infantile with cataract and hypogonadism | congenital muscular dystrophy-infantile cataract-hypogonadism syndrome"
BMGC_DS11143,BMG_DS039401,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | autosomal recessive limb-girdle muscular dystrophy type 2B"
BMGC_DS11144,BMG_DS039402,Gastrocutaneous syndrome | Gastrocutaneous syndrome (disorder) | gastrocutaneous syndrome
BMGC_DS11145,BMG_DS039405,"Gamma-A-Globulin, Defect in Assembly of | gamma-A-globulin, defect in assembly of"
BMGC_DS11146,BMG_DS039406,"FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY | Sorsby fundus dystrophy | Sorsby's fundus dystrophy"
BMGC_DS11147,BMG_DS039408,"Corneal dystrophy, Fuchs' endothelial, 1 | corneal dystrophy, Fuchs endothelial, 1"
BMGC_DS11148,BMG_DS039412,"Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness | Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness"
BMGC_DS11149,BMG_DS039417,"familial congenital palsy of trochlear nerve | fourth cranial nerve palsy, familial congenital"
BMGC_DS11150,BMG_DS039421,"Eng-Strom syndrome | FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE"
BMGC_DS11151,BMG_DS039423,LAURIN-SANDROW SYNDROME | Laurin-Sandrow syndrome | laurin-Sandrow syndrome
BMGC_DS11152,BMG_DS039424,"Laurin-Sandrow Syndrome, Segmental"
BMGC_DS11153,BMG_DS039425,"Fibrosis Of Extraocular Muscles, Congenital, 1 | congenital fibrosis of extraocular muscles type 1"
BMGC_DS11154,BMG_DS039426,Gingival fibromatosis with progressive deafness syndrome | Gingival fibromatosis with progressive deafness syndrome (disorder) | Jones syndrome | gingival fibromatosis-progressive deafness syndrome
BMGC_DS11155,BMG_DS039427,"Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia | gingival fibromatosis-hypertrichosis syndrome"
BMGC_DS11156,BMG_DS039428,"Desmoid disease, hereditary | hereditary desmoid disease"
BMGC_DS11157,BMG_DS039429,SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
BMGC_DS11158,BMG_DS039430,Fibrinolytic Defect | fibrinolytic defect
BMGC_DS11159,BMG_DS039432,Ectopia lentis isolated | autosomal dominant isolated ectopia lentis 1 | isolated ectopia lentis
BMGC_DS11160,BMG_DS039433,"Iron Overload, Autosomal Dominant | hemochromatosis type 5"
BMGC_DS11161,BMG_DS039434,"Familial Mediterranean Fever | Familial Mediterranean Fever, Autosomal Dominant | familial Mediterranean fever, autosomal dominant"
BMGC_DS11162,BMG_DS039435,"Familial Multiple Coagulation Factor Deficiency VI | factor 9 and Factor XI, combined deficiency of"
BMGC_DS11163,BMG_DS039437,"Familial Multiple Coagulation Factor Deficiency II | factor VIII and Factor IX, combined deficiency of"
BMGC_DS11164,BMG_DS039438,"Familial Multiple Coagulation Factor Deficiency IV | factor VII and Factor VIII, combined deficiency of"
BMGC_DS11165,BMG_DS039439,Factor V Excess with Spontaneous Thrombosis | factor 5 excess with spontaneous thrombosis
BMGC_DS11166,BMG_DS039440,"Facial Palsy, Familial Recurrent Peripheral | familial recurrent peripheral facial palsy"
BMGC_DS11167,BMG_DS039441,Exudative vitreoretinopathy 1 | exudative vitreoretinopathy 1
BMGC_DS11168,BMG_DS039443,"EXOSTOSES, MULTIPLE, TYPE II | exostoses, multiple, type 2"
BMGC_DS11169,BMG_DS039444,"Exostoses with Anetodermia and Brachydactyly, Type E | exostoses-anetodermia-brachydactyly type E syndrome"
BMGC_DS11170,BMG_DS039445,Cerebrooculofacioskeletal Syndrome 3 | cerebrooculofacioskeletal syndrome 3
BMGC_DS11171,BMG_DS039446,"Exchondrosis Of Pinna, Posterior | exchondrosis of pinna, posterior"
BMGC_DS11172,BMG_DS039448,Erythrokeratodermia Variabilis | Greither Disease | erythrokeratodermia variabilis | transgrediens et progrediens palmoplantar keratoderma
BMGC_DS11173,BMG_DS039449,Erythrokeratodermia with ataxia | Spinocerebellar ataxia and erythrokeratodermia | Spinocerebellar ataxia type 34 | Spinocerebellar ataxia type 34 (disorder) | spinocerebellar ataxia type 34
BMGC_DS11174,BMG_DS039450,Erythema Palmare Hereditarium | erythema palmare hereditarium
BMGC_DS11175,BMG_DS039451,"Erythema nodosum, familial | erythema nodosum, familial"
BMGC_DS11176,BMG_DS039452,"Aortic aneurysm, familial thoracic 4 | aortic aneurysm, familial thoracic 4"
BMGC_DS11177,BMG_DS039455,familial cylindromatosis
BMGC_DS11178,BMG_DS039456,"Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness | multiple epiphyseal dysplasia with myopia and deafness | multiple epiphyseal dysplasia, Beighton type"
BMGC_DS11179,BMG_DS039459,"Benign Occipital Epilepsy | Epilepsies, Partial | self-limited childhood occipital epilepsy"
BMGC_DS11180,BMG_DS039460,Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase | epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase
BMGC_DS11181,BMG_DS039461,Transient bullous dermolysis of the newborn | transient bullous dermolysis of the newborn
BMGC_DS11182,BMG_DS039464,"MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | myeloproliferative disorder with eosinophilia | myeloproliferative disorder, chronic, with eosinophilia"
BMGC_DS11183,BMG_DS039465,EOSINOPHILOPENIA | Eosinophilopenia
BMGC_DS11184,BMG_DS039466,"endometriosis, susceptibility to, 1"
BMGC_DS11185,BMG_DS039468,LATERAL MENINGOCELE SYNDROME | lateral meningocele syndrome
BMGC_DS11186,BMG_DS039469,"Emphysema, Hereditary Pulmonary | emphysema, hereditary pulmonary"
BMGC_DS11187,BMG_DS039470,Elliptocytosis 2 | elliptocytosis 2
BMGC_DS11188,BMG_DS039471,electroencephalographic peculiarity: fronto-precentral beta wave groups
BMGC_DS11189,BMG_DS039472,electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon
BMGC_DS11190,BMG_DS039473,EDS VIIB | Ehlers-Danlos syndrome arthrochalasia type 2 | Ehlers-Danlos syndrome type 7B
BMGC_DS11191,BMG_DS039474,"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1"
BMGC_DS11192,BMG_DS039475,"Edema, Familial Idiopathic, Prepubertal | edema, familial idiopathic, prepubertal"
BMGC_DS11193,BMG_DS039477,Ectrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate | ectrodactyly and ectodermal dysplasia without cleft lip/palate
BMGC_DS11194,BMG_DS039478,Ectodermal dysplasia adrenal cyst | ectodermal dysplasia with adrenal cyst
BMGC_DS11195,BMG_DS039481,OROFACIAL CLEFT 8 | orofacial cleft 8
BMGC_DS11196,BMG_DS039482,ECHO VIRUS 11 SENSITIVITY
BMGC_DS11197,BMG_DS039483,"earring holes, natural"
BMGC_DS11198,BMG_DS039484,thickened earlobes-conductive deafness syndrome
BMGC_DS11199,BMG_DS039485,ear without helix
BMGC_DS11200,BMG_DS039486,"ear pits, posterior helical"
BMGC_DS11201,BMG_DS039487,ear folding
BMGC_DS11202,BMG_DS039488,"ear antitragus, tag at base of"
BMGC_DS11203,BMG_DS039489,Dopa-Responsive Dystonia | dopa-responsive dystonia | dystonia 5
BMGC_DS11204,BMG_DS039491,Paroxysmal choreoathetosis | Paroxysmal choreoathetosis (disorder) | Paroxysmal dyskinesia
BMGC_DS11205,BMG_DS039492,Dystonia musculorum deformans 4 | torsion dystonia 4
BMGC_DS11206,BMG_DS039493,"DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | early-onset generalized limb-onset dystonia"
BMGC_DS11207,BMG_DS039494,Dystelephalangy | dystelephalangy
BMGC_DS11208,BMG_DS039498,"dyslexia, susceptibility to, 1"
BMGC_DS11209,BMG_DS039502,"Dwarfism, Levi Type | dwarfism, Levi type"
BMGC_DS11210,BMG_DS039503,Dwarfism tall vertebrae | dwarfism with tall vertebrae
BMGC_DS11211,BMG_DS039506,"Duodenal Ulcer, Hyperpepsinogenemic I | duodenal ulcer, hyperpepsinogenemic 1"
BMGC_DS11212,BMG_DS039507,Duodenal ulcer due to antral G-cell hyperfunction | duodenal ulcer due to antral G-cell hyperfunction
BMGC_DS11213,BMG_DS039508,Calvarial doughnut lesion with bone fragility syndrome | Doughnut lesion of calvaria and bone fragility syndrome | Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Familial doughnut lesions of skull | calvarial doughnut lesions-bone fragility syndrome
BMGC_DS11214,BMG_DS039509,double nail for fifth toe
BMGC_DS11215,BMG_DS039511,Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature | distichiasis with congenital anomalies of the heart and peripheral vasculature
BMGC_DS11216,BMG_DS039514,"discrimination, Two-point, reduction 1N"
BMGC_DS11217,BMG_DS039515,"Digitotalar Dysmorphism | digitotalar dysmorphism | digitotalar dysmorphism; ulnar drift, hereditary | distal arthrogryposis type 1"
BMGC_DS11218,BMG_DS039516,"diastema, dental medial"
BMGC_DS11219,BMG_DS039518,"DIABETES MELLITUS, INSULIN-DEPENDENT, 2 | type 1 diabetes mellitus 2"
BMGC_DS11220,BMG_DS039519,"Maturity-Onset Diabetes of the Young, Type 1 | maturity-onset diabetes of the young type 1"
BMGC_DS11221,BMG_DS039520,KERATOSIS PALMOPLANTARIS STRIATA II | keratosis palmoplantaris striata 2
BMGC_DS11222,BMG_DS039521,Dermoodontodysplasia | dermo-odonto dysplasia
BMGC_DS11223,BMG_DS039522,Familial dermographism | familial dermatographia
BMGC_DS11224,BMG_DS039523,DERMODISTORTIVE URTICARIA
BMGC_DS11225,BMG_DS039524,isolated congenital adermatoglyphia
BMGC_DS11226,BMG_DS039527,"Dermal Ridges, Patternless | dermal Ridges, patternless"
BMGC_DS11227,BMG_DS039529,major affective disorder 1
BMGC_DS11228,BMG_DS039530,Deoxyribose-5-Phosphate Aldolase Deficiency | deoxyribose-5-phosphate aldolase deficiency
BMGC_DS11229,BMG_DS039531,Dentin dysplasia sclerotic bones | dentin dysplasia-sclerotic bones syndrome
BMGC_DS11230,BMG_DS039532,"Failure of Tooth Eruption, Primary | primary failure of tooth eruption"
BMGC_DS11231,BMG_DS039533,Dementia-Parkinsonism With Non-Alzheimer Amyloid Plaques | dementia/parkinsonism with non-Alzheimer amyloid plaques
BMGC_DS11232,BMG_DS039537,Auditory neuropathy | auditory neuropathy
BMGC_DS11233,BMG_DS039539,Deafness with Anhidrotic Ectodermal Dysplasia | deafness with anhidrotic ectodermal dysplasia
BMGC_DS11234,BMG_DS039540,"Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease | deafness, sensorineural, with peripheral neuropathy and arterial disease"
BMGC_DS11235,BMG_DS039541,"Deafness, Autosomal Dominant 1 | autosomal dominant nonsyndromic hearing loss 1"
BMGC_DS11236,BMG_DS039542,"Deafness, Mid-Tone Neural | deafness, mid-tone neural"
BMGC_DS11237,BMG_DS039544,Darwinian tubercle of pinna
BMGC_DS11238,BMG_DS039545,"Darier Disease, Acral Hemorrhagic Type"
BMGC_DS11239,BMG_DS039546,"Darier Disease, Segmental"
BMGC_DS11240,BMG_DS039548,Mitochondrial Complex III Deficiency | mitochondrial complex III deficiency
BMGC_DS11241,BMG_DS039549,Mitochondrial encephalopathy
BMGC_DS11242,BMG_DS039552,Beare-Stevenson cutis gyrata syndrome | Cutis Gyrata Syndrome of Beare And Stevenson
BMGC_DS11243,BMG_DS039555,"CATARACT, COPPOCK-LIKE"
BMGC_DS11244,BMG_DS039558,"Cryptophthalmos, Unilateral or Bilateral, Isolated | isolated cryptophthalmia"
BMGC_DS11245,BMG_DS039560,"Cryptotia, Familial | cryptotia, familial"
BMGC_DS11246,BMG_DS039561,"Cryoglobulinemia, Familial Mixed | Cryoglobulinemic vasculitis"
BMGC_DS11247,BMG_DS039562,"Cryofibrinogenemia, Familial Primary | cryofibrinogenemia, familial primary"
BMGC_DS11248,BMG_DS039566,"CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | autosomal dominant craniometaphyseal dysplasia | craniometaphyseal dysplasia, autosomal dominant"
BMGC_DS11249,BMG_DS039567,Craniofacial deafness hand syndrome | Craniofacial deafness hand syndrome (disorder) | Sommer Young Wee Frye syndrome | craniofacial-deafness-hand syndrome
BMGC_DS11250,BMG_DS039568,Cranioacrofacial Syndrome | cranioacrofacial syndrome
BMGC_DS11251,BMG_DS039569,Coxoauricular Syndrome | coxoauricular syndrome
BMGC_DS11252,BMG_DS039572,congenitally short costocoracoid ligament
BMGC_DS11253,BMG_DS039573,Corticosteroid-Binding Globulin Deficiency | corticosteroid-binding globulin deficiency
BMGC_DS11254,BMG_DS039574,"Coronary Artery Dissection, Spontaneous | idiopathic spontaneous coronary artery dissection"
BMGC_DS11255,BMG_DS039577,Epithelial Recurrent Erosion Dystrophy | epithelial recurrent erosion dystrophy
BMGC_DS11256,BMG_DS039578,"Corneal Dystrophy, Posterior Polymorphous, 1 | posterior polymorphous corneal dystrophy | posterior polymorphous corneal dystrophy 1"
BMGC_DS11257,BMG_DS039580,"cornea plana 1, autosomal dominant"
BMGC_DS11258,BMG_DS039581,Cornea guttata with anterior polar cataract | cornea guttata with anterior polar cataracts
BMGC_DS11259,BMG_DS039582,"coracoclavicular joint, anomalous"
BMGC_DS11260,BMG_DS039583,"Copper deficiency, familial benign | familial benign copper deficiency"
BMGC_DS11261,BMG_DS039584,"Febrile Convulsions, Familial, 1 | febrile seizures, familial, 1"
BMGC_DS11262,BMG_DS039585,"seizures, benign familial neonatal, 2"
BMGC_DS11263,BMG_DS039588,"Arthrogryposis, distal, type 2E | arthrogryposis, distal, type 2E"
BMGC_DS11264,BMG_DS039589,"C1 inhibitor deficiency | Complement Component 4, Partial Deficiency Of"
BMGC_DS11265,BMG_DS039590,Branchiootic Syndrome 2 | branchiootic syndrome 2
BMGC_DS11266,BMG_DS039593,COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY | coloboma of macula-brachydactyly type B syndrome
BMGC_DS11267,BMG_DS039594,Papillorenal syndrome | Renal coloboma syndrome | Renal coloboma syndrome (disorder) | renal coloboma syndrome
BMGC_DS11268,BMG_DS039595,coloboma of macula
BMGC_DS11269,BMG_DS039596,"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 | posterior polymorphous corneal dystrophy 2"
BMGC_DS11270,BMG_DS039598,Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia | vitreoretinopathy with phalangeal epiphyseal dysplasia
BMGC_DS11271,BMG_DS039599,Cornelia de Lange Syndrome 3 | Cornelia de Lange syndrome 3 | De Lange Syndrome
BMGC_DS11272,BMG_DS039600,CEREBROOCULOFACIOSKELETAL SYNDROME 4 | cerebrooculofacioskeletal syndrome 4
BMGC_DS11273,BMG_DS039601,Cerebrooculofacioskeletal Syndrome 2 | cerebrooculofacioskeletal syndrome 2
BMGC_DS11274,BMG_DS039602,ALOPECIA AREATA 2 | alopecia areata 2
BMGC_DS11275,BMG_DS039604,"Spinocerebellar Ataxia, Autosomal Recessive 8 | autosomal recessive ataxia, Beauce type | autosomal recessive spinocerebellar ataxia 8"
BMGC_DS11276,BMG_DS039605,Congenital neutropenia | Congenital neutropenia (disorder) | Primary neutropenia | Severe congenital neutropenia | Severe infantile genetic neutropenia | severe congenital neutropenia
BMGC_DS11277,BMG_DS039606,Noonan Syndrome 4 | Noonan syndrome 4
BMGC_DS11278,BMG_DS039607,"NEPHROTIC SYNDROME, TYPE 3 | nephrotic syndrome type 3 | nephrotic syndrome, type 3"
BMGC_DS11279,BMG_DS039608,Neutral Lipid Storage Disease with Myopathy | neutral lipid storage myopathy
BMGC_DS11280,BMG_DS039609,BRACHYDACTYLY-SYNDACTYLY SYNDROME | brachydactyly-syndactyly syndrome
BMGC_DS11281,BMG_DS039610,Optic atrophy 5 | optic atrophy 5
BMGC_DS11282,BMG_DS039612,"Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia | deafness with labyrinthine aplasia, microtia, and microdontia"
BMGC_DS11283,BMG_DS039613,"Macular Degeneration, Age-Related, 4 | age related macular degeneration 4"
BMGC_DS11284,BMG_DS039614,JOUBERT SYNDROME 6 | Joubert syndrome 6
BMGC_DS11285,BMG_DS039615,Nemaline Myopathy 7 | nemaline myopathy 7
BMGC_DS11286,BMG_DS039617,Osteogenesis Imperfecta Type VII | osteogenesis imperfecta type 7
BMGC_DS11287,BMG_DS039620,Recurrent skin infections
BMGC_DS11288,BMG_DS039624,cold-induced sweating syndrome 2
BMGC_DS11289,BMG_DS039625,"Parkinson disease 13, autosomal dominant, susceptibility to"
BMGC_DS11290,BMG_DS039627,RETINITIS PIGMENTOSA 35 | retinitis pigmentosa 35
BMGC_DS11291,BMG_DS039628,"Pachygyria, frontotemporal | autosomal recessive frontotemporal pachygyria"
BMGC_DS11292,BMG_DS039629,"Deafness, Autosomal Recessive 67 | autosomal recessive nonsyndromic hearing loss 67"
BMGC_DS11293,BMG_DS039633,congenital primary aphakia
BMGC_DS11294,BMG_DS039634,Sclerocornea | sclerocornea
BMGC_DS11295,BMG_DS039635,"SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | hereditary spastic paraplegia 31"
BMGC_DS11296,BMG_DS039636,"DEAFNESS, AUTOSOMAL RECESSIVE 65 | autosomal recessive nonsyndromic hearing loss 65"
BMGC_DS11297,BMG_DS039637,SPINOCEREBELLAR ATAXIA 28 | spinocerebellar ataxia type 28
BMGC_DS11298,BMG_DS039638,SPINOCEREBELLAR ATAXIA 23 | spinocerebellar ataxia type 23
BMGC_DS11299,BMG_DS039639,"Spastic Paraplegia 33, Autosomal Dominant | hereditary spastic paraplegia 33"
BMGC_DS11300,BMG_DS039642,Seborrhea-Like Dermatitis with Psoriasiform Elements | seborrhea-like dermatitis with psoriasiform elements
BMGC_DS11301,BMG_DS039643,"HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY | hereditary hypophosphatemic rickets with hypercalciuria"
BMGC_DS11302,BMG_DS039644,"Deafness, Autosomal Recessive 28 | autosomal recessive nonsyndromic hearing loss 28"
BMGC_DS11303,BMG_DS039645,Bleeding Disorder Due To P2RY12 Defect | platelet-type bleeding disorder 8
BMGC_DS11304,BMG_DS039646,"Erythrocytosis, Familial, 3 | erythrocytosis, familial, 3"
BMGC_DS11305,BMG_DS039648,Zygodactyly 1 | zygodactyly 1 | zygodactyly type 1
BMGC_DS11306,BMG_DS039649,"Spondylocostal Dysostosis 3, Autosomal Recessive | autosomal recessive spondylocostal dysostosis | spondylocostal dysostosis 3, autosomal recessive"
BMGC_DS11307,BMG_DS039650,"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION | maturity-onset diabetes of the young type 8"
BMGC_DS11308,BMG_DS039651,"Hamartoma, Precalcaneal Congenital Fibrolipomatous | hamartoma, Precalcaneal congenital fibrolipomatous"
BMGC_DS11309,BMG_DS039652,"Generalized Epilepsy With Febrile Seizures Plus, Type 4 | generalized epilepsy with febrile seizures plus, type 4"
BMGC_DS11310,BMG_DS039653,"Acral peeling skin syndrome | Acral peeling skin syndrome (disorder) | Peeling skin syndrome, acral type | acral peeling skin syndrome | peeling skin syndrome 2"
BMGC_DS11311,BMG_DS039656,"aortic aneurysm, familial abdominal, 1"
BMGC_DS11312,BMG_DS039657,maturity-onset diabetes of the young type 6
BMGC_DS11313,BMG_DS039658,mega-cisterna magna
BMGC_DS11314,BMG_DS039659,"Interleukin 2 Receptor, Alpha, Deficiency of | immunodeficiency 41 | immunodeficiency due to CD25 deficiency"
BMGC_DS11315,BMG_DS039660,Primary lateral sclerosis juvenile | juvenile primary lateral sclerosis
BMGC_DS11316,BMG_DS039661,INFLAMMATORY BOWEL DISEASE 5 | inflammatory bowel disease 5
BMGC_DS11317,BMG_DS039662,"Heterotaxy, Visceral, 3, Autosomal | heterotaxy, visceral, 3, autosomal"
BMGC_DS11318,BMG_DS039663,"PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET | Parkinson's disease 7 | autosomal recessive early-onset Parkinson disease 7"
BMGC_DS11319,BMG_DS039664,"Deafness, Autosomal Dominant 24 | autosomal dominant nonsyndromic hearing loss 24"
BMGC_DS11320,BMG_DS039665,PAGET DISEASE OF BONE 4 | Paget's disease of bone 4 | paget disease of bone 4
BMGC_DS11321,BMG_DS039666,"Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism | intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism"
BMGC_DS11322,BMG_DS039667,22q13.3 Deletion Syndrome | Phelan-McDermid syndrome
BMGC_DS11323,BMG_DS039668,"Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations | intellectual disability, short stature, facial anomalies, and joint dislocations"
BMGC_DS11324,BMG_DS039669,"atrioventricular septal defect, susceptibility to, 2"
BMGC_DS11325,BMG_DS039670,"Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome"
BMGC_DS11326,BMG_DS039677,Genitopatellar Syndrome | genitopatellar syndrome
BMGC_DS11327,BMG_DS039680,Adult onset basal ganglia disease | Ferritin related neurodegeneration | Neuroferritinopathy | Neuroferritinopathy (disorder) | neurodegeneration with brain iron accumulation 3 | neuroferritinopathy
BMGC_DS11328,BMG_DS039682,Baraitser-Winter cerebrofrontofacial syndrome | Fryns-Aftimos Syndrome
BMGC_DS11329,BMG_DS039683,"Anemia, Diamond-Blackfan, 2 | Diamond-Blackfan anemia 2"
BMGC_DS11330,BMG_DS039684,"Goiter, Multinodular 3 | goiter, multinodular 3"
BMGC_DS11331,BMG_DS039685,Rippling muscle disease | Rippling muscle disease (disorder) | Rippling muscle syndrome | rippling muscle disease | rippling muscle disease 1 | rippling muscle disease 2
BMGC_DS11332,BMG_DS039686,"Charcot-Marie-Tooth disease axonal type 2C | Hereditary Motor And Sensory Neuropathy, Type IIC"
BMGC_DS11333,BMG_DS039687,distal myopathy with vocal cord weakness
BMGC_DS11334,BMG_DS039688,"HEMOCHROMATOSIS, TYPE 4 | hemochromatosis type 4"
BMGC_DS11335,BMG_DS039689,"Congenital Disorder Of Glycosylation, Type IIB | MOGS-congenital disorder of glycosylation | congenital disorder of glycosylation type IIb"
BMGC_DS11336,BMG_DS039690,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY | autism, susceptibility to, 5"
BMGC_DS11337,BMG_DS039692,"Deafness, Autosomal Dominant 18 | autosomal dominant nonsyndromic hearing loss 18"
BMGC_DS11338,BMG_DS039693,"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"
BMGC_DS11339,BMG_DS039695,Familial Wilms tumor 2
BMGC_DS11340,BMG_DS039696,Acro-pectoral syndrome | Acropectoral syndrome | Acropectoral syndrome (disorder) | Syndactyly with preaxial polydactyly and sternal deformity syndrome | acropectoral syndrome
BMGC_DS11341,BMG_DS039701,Holoprosencephaly 6 | holoprosencephaly 6
BMGC_DS11342,BMG_DS039703,"Parkinson Disease 6, Autosomal Recessive Early-Onset | autosomal recessive early-onset Parkinson disease 6"
BMGC_DS11343,BMG_DS039704,"Cardiomyopathy, Dilated, with Left Ventricular Noncompaction"
BMGC_DS11344,BMG_DS039705,Dimethylglycine Dehydrogenase Deficiency | dimethylglycine dehydrogenase deficiency
BMGC_DS11345,BMG_DS039710,"Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant | generalized basaloid follicular hamartoma syndrome"
BMGC_DS11346,BMG_DS039711,"Spondyloocular Syndrome, Autosomal Recessive"
BMGC_DS11347,BMG_DS039712,GNE myopathy | NONAKA MYOPATHY
BMGC_DS11348,BMG_DS039713,"DEAFNESS, AUTOSOMAL RECESSIVE 27 | autosomal recessive nonsyndromic hearing loss 27"
BMGC_DS11349,BMG_DS039714,"CITRULLINEMIA, TYPE II, NEONATAL-ONSET | neonatal intrahepatic cholestasis due to citrin deficiency | neonatal-onset type II citrullinemia"
BMGC_DS11350,BMG_DS039715,Birdshot Chorioretinopathy | birdshot chorioretinopathy
BMGC_DS11351,BMG_DS039716,"DERMATITIS, ATOPIC, 4 | atopic dermatitis 4 | dermatitis, atopic, 4"
BMGC_DS11352,BMG_DS039718,"Dermatitis, Atopic, 2 | dermatitis, atopic, 2"
BMGC_DS11353,BMG_DS039720,"SEIZURES, BENIGN FAMILIAL INFANTILE, 2 | benign familial infantile seizures 2 | seizures, benign familial infantile, 2"
BMGC_DS11354,BMG_DS039721,EXUDATIVE VITREORETINOPATHY 3 | exudative vitreoretinopathy 3
BMGC_DS11355,BMG_DS039725,"Cataract, Central Saccular, With Sutural Opacities | cataract 25"
BMGC_DS11356,BMG_DS039726,OTOSCLEROSIS 2 | otosclerosis 2
BMGC_DS11357,BMG_DS039727,"Spinal muscular atrophy, Jerash type | autosomal recessive distal hereditary motor neuronopathy 2 | autosomal recessive distal spinal muscular atrophy 2"
BMGC_DS11358,BMG_DS039728,"SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE | adult-onset proximal spinal muscular atrophy, autosomal dominant | autosomal dominant adult-onset proximal spinal muscular atrophy"
BMGC_DS11359,BMG_DS039730,Cardiomyopathy dilated with woolly hair and keratoderma | Carvajal syndrome | arrhythmogenic cardiomyopathy with wooly hair and keratoderma
BMGC_DS11360,BMG_DS039732,Late-Onset Retinal Degeneration | late-onset retinal degeneration
BMGC_DS11361,BMG_DS039734,"myopathy, proximal, and ophthalmoplegia"
BMGC_DS11362,BMG_DS039735,"Hyperaldosteronism, Familial, Type II | familial hyperaldosteronism type II"
BMGC_DS11363,BMG_DS039736,Cerebrooculonasal Syndrome | cerebrooculonasal syndrome
BMGC_DS11364,BMG_DS039738,"psoriasis 7, susceptibility to"
BMGC_DS11365,BMG_DS039740,"Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 | deafness, autosomal dominant 39, with dentinogenesis imperfecta 1"
BMGC_DS11366,BMG_DS039741,"Charcot-Marie-Tooth disease type 2B2 | Charcot-Marie-Tooth disease, Type 2B2"
BMGC_DS11367,BMG_DS039742,"Charcot-Marie-Tooth disease type 2B1 | Charcot-Marie-Tooth disease, Type 2B1"
BMGC_DS11368,BMG_DS039743,"Deafness, Autosomal Dominant 25 | autosomal dominant nonsyndromic hearing loss 25"
BMGC_DS11369,BMG_DS039744,"Cardiomyopathy, Dilated, 1K | dilated cardiomyopathy 1K"
BMGC_DS11370,BMG_DS039745,abdominal obesity-metabolic syndrome quantitative trait locus 2
BMGC_DS11371,BMG_DS039746,Cone-Rod Dystrophy 8 | cone-rod dystrophy 8
BMGC_DS11372,BMG_DS039748,"Parkinson Disease 4, Autosomal Dominant Lewy Body | autosomal dominant Parkinson disease 4"
BMGC_DS11373,BMG_DS039749,"ALZHEIMER DISEASE 6, LATE-ONSET | Alzheimer disease 6"
BMGC_DS11374,BMG_DS039752,Leber Congenital Amaurosis 6 | Leber congenital amaurosis 6
BMGC_DS11375,BMG_DS039753,Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia | radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
BMGC_DS11376,BMG_DS039754,"DEAFNESS, AUTOSOMAL RECESSIVE 26 | autosomal recessive nonsyndromic hearing loss 26"
BMGC_DS11377,BMG_DS039756,Hereditary hypotrichosis simplex | Hereditary hypotrichosis simplex (disorder) | Hypotrichosis simplex | hypotrichosis simplex
BMGC_DS11378,BMG_DS039757,"Cataract, posterior polar, 3 | cataract 31 multiple types"
BMGC_DS11379,BMG_DS039758,"Epilepsy, Nocturnal Frontal Lobe, Type 3 | autosomal dominant nocturnal frontal lobe epilepsy 3"
BMGC_DS11380,BMG_DS039759,PARAGANGLIOMAS 3 | paragangliomas 3
BMGC_DS11381,BMG_DS039763,"Cardiomyopathy, Dilated, 1J | dilated cardiomyopathy 1J"
BMGC_DS11382,BMG_DS039764,Spinocerebellar ataxia 14 | spinocerebellar ataxia type 14
BMGC_DS11383,BMG_DS039765,nemaline myopathy 5
BMGC_DS11384,BMG_DS039766,Frontoocular Syndrome | frontoocular syndrome
BMGC_DS11385,BMG_DS039768,MACROCEPHALY/AUTISM SYNDROME | macrocephaly-autism syndrome
BMGC_DS11386,BMG_DS039769,Optic Atrophy 4 | optic atrophy 4
BMGC_DS11387,BMG_DS039770,SPLIT-HAND/FOOT MALFORMATION 4 | split hand-foot malformation 4
BMGC_DS11388,BMG_DS039771,"Charcot-Marie-Tooth disease type 4G | Neuropathy, hereditary motor and sensory, Russe type"
BMGC_DS11389,BMG_DS039772,Tuberous Sclerosis 1 | tuberous sclerosis 1
BMGC_DS11390,BMG_DS039773,Temtamy preaxial brachydactyly syndrome | Temtamy preaxial brachydactyly syndrome (disorder) | temtamy preaxial brachydactyly syndrome
BMGC_DS11391,BMG_DS039774,"Spastic paraplegia 13, autosomal dominant | hereditary spastic paraplegia 13"
BMGC_DS11392,BMG_DS039775,Noonan Syndrome 2 | Noonan syndrome 2
BMGC_DS11393,BMG_DS039776,"Mesomelic Dysplasia, Savarirayan Type | mesomelic dysplasia, Savarirayan type"
BMGC_DS11394,BMG_DS039777,Spinocerebellar ataxia 13 | spinocerebellar ataxia type 13
BMGC_DS11395,BMG_DS039778,"Carney Complex | Carney Complex, Type 2 | Carney complex | Carney complex type 2"
BMGC_DS11396,BMG_DS039779,"Spastic paraplegia 14, autosomal recessive | hereditary spastic paraplegia 14"
BMGC_DS11397,BMG_DS039781,"systemic lupus erythematosus, susceptibility to, 2"
BMGC_DS11398,BMG_DS039782,"DEAFNESS, AUTOSOMAL DOMINANT 23 | autosomal dominant nonsyndromic hearing loss 23"
BMGC_DS11399,BMG_DS039783,"Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome | Wiedemann Steiner syndrome | Wiedemann Steiner syndrome (disorder) | Wiedemann-Steiner syndrome"
BMGC_DS11400,BMG_DS039784,"Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy | pseudohyperaldosteronism type 2"
BMGC_DS11401,BMG_DS039786,"Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy | muscular dystrophy, adult-onset, with leukoencephalopathy"
BMGC_DS11402,BMG_DS039788,LETHAL CONGENITAL CONTRACTURE SYNDROME 1 | lethal congenital contracture syndrome 1
BMGC_DS11403,BMG_DS039789,"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | lethal multiple pterygium syndrome"
BMGC_DS11404,BMG_DS039795,GNPTG-mucolipidosis | Mucolipidosis III Gamma | mucolipidosis III gamma
BMGC_DS11405,BMG_DS039798,Monosomy 7 of Bone Marrow | monosomy 7 myelodysplasia and leukemia syndrome 1
BMGC_DS11406,BMG_DS039799,Monocyte Chemotactic Disorder | chronic mucocutaneous candidiasis due to monocyte chemotactic disorder
BMGC_DS11407,BMG_DS039800,"Molybdenum Cofactor Deficiency, Complementation Group A | molybdenum cofactor deficiency type A | sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"
BMGC_DS11408,BMG_DS039801,"Molybdenum Cofactor Deficiency, Complementation Group B | molybdenum cofactor deficiency type B | sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"
BMGC_DS11409,BMG_DS039802,"Molybdenum Cofactor Deficiency, Complementation Group C | molybdenum cofactor deficiency type C | sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"
BMGC_DS11410,BMG_DS039803,Mitochondrial Complex II Deficiency | mitochondrial complex II deficiency
BMGC_DS11411,BMG_DS039805,Mitochondrial myopathy with lactic acidosis | mitochondrial myopathy-lactic acidosis-deafness syndrome
BMGC_DS11412,BMG_DS039806,Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport | mitochondrial myopathy with a defect in mitochondrial-protein transport
BMGC_DS11413,BMG_DS039808,"MICROPHTHALMIA, ISOLATED 1 | isolated microphthalmia 1"
BMGC_DS11414,BMG_DS039809,"Microphthalmia, Isolated, with Coloboma 4 | microphthalmia, isolated, with coloboma 4"
BMGC_DS11415,BMG_DS039811,ATAXIA-TELANGIECTASIA VARIANT V2
BMGC_DS11416,BMG_DS039813,Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia | Say-Barber-Miller syndrome
BMGC_DS11417,BMG_DS039814,Microcephaly-Micromelia Syndrome | microcephaly-micromelia syndrome
BMGC_DS11418,BMG_DS039815,Microcephalus cardiomyopathy syndrome | Microcephalus cardiomyopathy syndrome (disorder) | Microcephaly cardiomyopathy syndrome | Winship Viljoen Leary syndrome | microcephaly-cardiomyopathy syndrome
BMGC_DS11419,BMG_DS039816,"microcephaly 1, primary, autosomal recessive"
BMGC_DS11420,BMG_DS039818,Methylmalonyl-CoA Epimerase Deficiency | methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
BMGC_DS11421,BMG_DS039820,"Methylmalonic aciduria cblB type | methylmalonic aciduria, cblB type"
BMGC_DS11422,BMG_DS039821,"Methylmalonic aciduria cblA type | methylmalonic aciduria, cblA type"
BMGC_DS11423,BMG_DS039822,Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
BMGC_DS11424,BMG_DS039823,"Methylmalonic Aciduria, mut(0) Type | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"
BMGC_DS11425,BMG_DS039824,"Methylmalonic Aciduria, mut(-) Type | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"
BMGC_DS11426,BMG_DS039825,Methylmalonic aciduria
BMGC_DS11427,BMG_DS039826,3-Methylglutaconic Aciduria Type IV | 3-methylglutaconic aciduria type 4
BMGC_DS11428,BMG_DS039827,"Methylcobalamin Deficiency, CblG Type | methylcobalamin deficiency type cblG"
BMGC_DS11429,BMG_DS039828,"Roy Maroteaux Kremp syndrome | metaphyseal modeling abnormality, skin lesions, and spastic paraplegia"
BMGC_DS11430,BMG_DS039830,"Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness | metaphyseal dysostosis-intellectual disability-conductive deafness syndrome"
BMGC_DS11431,BMG_DS039831,early-onset anterior polar cataract
BMGC_DS11432,BMG_DS039832,Metaphyseal Chondrodysplasia with Retinitis Pigmentosa | metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
BMGC_DS11433,BMG_DS039833,"Metaphyseal Chondrodysplasia, Pena Type | metaphyseal chondrodysplasia, Pena type"
BMGC_DS11434,BMG_DS039835,"Spondylometaphyseal dysplasia, Sedaghatian type | spondylometaphyseal dysplasia Sedaghatian type | spondylometaphyseal dysplasia, Sedaghatian type"
BMGC_DS11435,BMG_DS039837,Pseudoarylsulfatase A Deficiency
BMGC_DS11436,BMG_DS039838,Mesomelic Limb Shortening and Bowing | mesomelic dwarfism-cleft palate-camptodactyly syndrome
BMGC_DS11437,BMG_DS039841,"intellectual disability, autosomal recessive 1"
BMGC_DS11438,BMG_DS039842,Frank-Ter Haar syndrome | Frank-Ter Haar syndrome (disorder) | Ter Haar syndrome
BMGC_DS11439,BMG_DS039843,Megalencephaly with Dysmyelination | megalencephaly with dysmyelination
BMGC_DS11440,BMG_DS039844,Megaepiphyseal dwarfism | megaepiphyseal dwarfism
BMGC_DS11441,BMG_DS039846,MAST SYNDROME | mast syndrome
BMGC_DS11442,BMG_DS039850,"Maple Syrup Urine Disease, Type IA | maple syrup urine disease type 1A"
BMGC_DS11443,BMG_DS039851,"MAPLE SYRUP URINE DISEASE, TYPE II | maple syrup urine disease type 2"
BMGC_DS11444,BMG_DS039855,Marles Greenberg Persaud syndrome | oculotrichoanal syndrome
BMGC_DS11445,BMG_DS039857,"Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | Treacher Collins syndrome 3"
BMGC_DS11446,BMG_DS039859,"magnesium, elevated red cell"
BMGC_DS11447,BMG_DS039860,Stargardt Disease | Stargardt Disease 1 | Stargardt disease | severe early-childhood-onset retinal dystrophy
BMGC_DS11448,BMG_DS039861,"Hypomagnesemia 5, Renal, with Ocular Involvement"
BMGC_DS11449,BMG_DS039864,"Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis | lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis"
BMGC_DS11450,BMG_DS039865,Lymphokine Deficiency | chronic mucocutaneous candidiasis due to lymphokine deficiency
BMGC_DS11451,BMG_DS039866,"lymphoblastic leukemia, acute, with lymphomatous features"
BMGC_DS11452,BMG_DS039868,"Lymphoblastic Transformation, Intrinsic Defect in | chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation"
BMGC_DS11453,BMG_DS039870,chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation
BMGC_DS11454,BMG_DS039871,Dahlberg Borer Newcomer syndrome | Dahlberg syndrome | Dahlberg-Borer-Newcomer syndrome | Lymphedema hypoparathyroidism syndrome | Lymphedema hypoparathyroidism syndrome (disorder) | Lymphoedema hypoparathyroidism syndrome
BMGC_DS11455,BMG_DS039872,"Lipase deficiency combined | lipase deficiency, combined"
BMGC_DS11456,BMG_DS039873,"Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome | fibular aplasia, tibial campomelia, and oligosyndactyly syndrome"
BMGC_DS11457,BMG_DS039874,"Limb Defects, Distal Transverse, with Mental Retardation and Spasticity | intellectual disability-spasticity-ectrodactyly syndrome"
BMGC_DS11458,BMG_DS039876,"Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome"
BMGC_DS11459,BMG_DS039877,"leukemia, acute myelocytic, with polyposis coli and colon cancer"
BMGC_DS11460,BMG_DS039878,"Leg, Absence Deformity of, with Congenital Cataract | absence deformity of leg-cataract syndrome"
BMGC_DS11461,BMG_DS039879,"Larsen like syndrome, lethal type | lethal Larsen-like syndrome"
BMGC_DS11462,BMG_DS039880,Laron syndrome type 2
BMGC_DS11463,BMG_DS039881,Lambotte syndrome
BMGC_DS11464,BMG_DS039882,"Branchial dysplasia, intellectual disability, inguinal hernia syndrome | Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Lambert syndrome"
BMGC_DS11465,BMG_DS039883,Lactic Aciduria due to D-Lactic Acid
BMGC_DS11466,BMG_DS039884,Pyruvate Dehydrogenase E3-Binding Protein Deficiency | pyruvate dehydrogenase E3-binding protein deficiency
BMGC_DS11467,BMG_DS039885,Pyruvate Dehydrogenase E2 Deficiency | pyruvate dehydrogenase E2 deficiency
BMGC_DS11468,BMG_DS039886,Erythrocyte Lactate Transporter Defect | metabolic myopathy due to lactate transporter defect
BMGC_DS11469,BMG_DS039887,"KURU, SUSCEPTIBILITY TO | kuru, susceptibility to"
BMGC_DS11470,BMG_DS039890,"Keutel syndrome | Keutel syndrome (disorder) | Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome"
BMGC_DS11471,BMG_DS039892,HAIM-MUNK SYNDROME | Haim-Munk syndrome
BMGC_DS11472,BMG_DS039893,"Keratoderma, Palmoplantar, Norrbotten Recessive Type | mal de Meleda"
BMGC_DS11473,BMG_DS039894,Keratoconus posticus circumscriptus | keratoconus posticus circumscriptus
BMGC_DS11474,BMG_DS039897,"KENNY-CAFFEY SYNDROME, TYPE 1 | Kenny-Caffey syndrome type 1 | autosomal recessive Kenny-Caffey syndrome"
BMGC_DS11475,BMG_DS039898,"Kaufman oculocerebrofacial syndrome | Oculocerebrofacial syndrome Kaufman type | Oculocerebrofacial syndrome Kaufman type (disorder) | oculocerebrofacial syndrome, Kaufman type"
BMGC_DS11476,BMG_DS039899,Arima syndrome | Cerebello-oculo-renal syndrome | Joubert syndrome with oculorenal defect | Joubert syndrome with oculorenal defect (disorder)
BMGC_DS11477,BMG_DS039900,"Nephronophthisis, familial juvenile | nephronophthisis 1"
BMGC_DS11478,BMG_DS039901,Jejunal Atresia with Microcephaly and Ocular Anomalies | Stromme syndrome
BMGC_DS11479,BMG_DS039902,"isovaleric acid, inability to smell"
BMGC_DS11480,BMG_DS039903,"Intrinsic Factor and R Binder, Combined Congenital Deficiency of | intrinsic factor and r binder, combined congenital deficiency of"
BMGC_DS11481,BMG_DS039904,BARAITSER-WINTER SYNDROME 1 | Baraitser-Winter syndrome 1
BMGC_DS11482,BMG_DS039905,Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth | natal teeth-intestinal pseudoobstruction-patent ductus syndrome
BMGC_DS11483,BMG_DS039906,"Neuronal intestinal pseudoobstruction | visceral neuropathy, familial, 1, autosomal recessive"
BMGC_DS11484,BMG_DS039907,IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1 | immunodeficiency with defective T-cell response to interleukin 1
BMGC_DS11485,BMG_DS039908,"internal carotid arteries, hypoplasia of"
BMGC_DS11486,BMG_DS039909,"Inosine Phosphorylase Deficiency, Immune Defect Due To | inosine phosphorylase deficiency, immune defect due to"
BMGC_DS11487,BMG_DS039910,Indolylacroyl Glycinuria with Mental Retardation | indolylacroyl glycinuria with intellectual disability
BMGC_DS11488,BMG_DS039911,"Indifference to Pain, Congenital, Autosomal Recessive | channelopathy-associated congenital insensitivity to pain, autosomal recessive"
BMGC_DS11489,BMG_DS039912,"immunoglobulin d level in plasma, low"
BMGC_DS11490,BMG_DS039915,Absent corpus callosum cataract immunodeficiency | Vici syndrome
BMGC_DS11491,BMG_DS039916,"Ichthyosis, Split Hairs, and Amino Aciduria | ichthyosis, split hairs, and amino aciduria"
BMGC_DS11492,BMG_DS039917,"Ichthyosis, mental retardation, dwarfism, and renal impairment | ichthyosis-intellectual disability-dwarfism-renal impairment syndrome"
BMGC_DS11493,BMG_DS039918,Jagell Holmgren Hofer syndrome | ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
BMGC_DS11494,BMG_DS039919,Self-Healing Collodion Baby | self-healing collodion baby
BMGC_DS11495,BMG_DS039920,"Hypouricemia, Hypercalcinuria, and Decreased Bone Density | hypouricemia, hypercalcinuria, and decreased bone density"
BMGC_DS11496,BMG_DS039921,Bamforth syndrome | Bamforth-Lazarus syndrome
BMGC_DS11497,BMG_DS039922,"Hypoproteinemia, Hypercatabolic | hypoproteinemia, hypercatabolic | immunodeficiency 43"
BMGC_DS11498,BMG_DS039925,"Hypoparathyroidism, intellectual disability, dysmorphism syndrome | Hypoparathyroidism, short stature, intellectual disability, seizures syndrome | Richardson Kirk syndrome | SSS - Sanjad Sakati syndrome | Sanjad Sakati syndrome | Sanjad Sakati syndrome (disorder) | hypoparathyroidism-retardation-dysmorphism syndrome"
BMGC_DS11499,BMG_DS039927,hypomandibular faciocranial dysostosis
BMGC_DS11500,BMG_DS039928,"Bartter disease type 2 | Bartter syndrome, antenatal , type 2"
BMGC_DS11501,BMG_DS039929,Hypohidrosis with Abnormal Palmar Dermal Ridges | hypohidrosis with abnormal palmar dermal Ridges
BMGC_DS11502,BMG_DS039930,Hypogonadism with Low-Grade Mental Deficiency and Microcephaly | hypogonadism with low-grade mental deficiency and microcephaly
BMGC_DS11503,BMG_DS039931,HYPOGONADISM-CATARACT SYNDROME | hypergonadotropic hypogonadism-cataract syndrome
BMGC_DS11504,BMG_DS039932,"Glycogen Storage Disease 0, Liver | glycogen storage disorder due to hepatic glycogen synthase deficiency"
BMGC_DS11505,BMG_DS039933,"Polyglandular Deficiency Syndrome, Persian-Jewish Type"
BMGC_DS11506,BMG_DS039934,"Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant"
BMGC_DS11507,BMG_DS039936,"Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase | hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase"
BMGC_DS11508,BMG_DS039937,Hypertrophic Neuropathy And Cataract | hypertrophic neuropathy and cataract
BMGC_DS11509,BMG_DS039938,Congenital generalised hypertrichosis Macias-Flores type | Congenital generalized hypertrichosis Macias-Flores type | Macias-Flores Garcia-Cruz Rivera syndrome | X-linked congenital generalised hypertrichosis | X-linked congenital generalized hypertrichosis | X-linked congenital generalized hypertrichosis (disorder)
BMGC_DS11510,BMG_DS039939,"Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy | cervical hypertrichosis-peripheral neuropathy syndrome"
BMGC_DS11511,BMG_DS039940,Hypertelorism and tetralogy of Fallot | hypertelorism and tetralogy of fallot
BMGC_DS11512,BMG_DS039941,Naguib-Richieri-Costa syndrome | acrofrontofacionasal dysostosis 2
BMGC_DS11513,BMG_DS039943,Hyperphosphatasaemia with intellectual disability | Hyperphosphatasaemia with mental retardation | Hyperphosphatasemia with intellectual disability | Hyperphosphatasemia with intellectual disability (disorder) | Hyperphosphatasemia with mental retardation | Hyperphosphatasia with seizures and neurologic deficit | Mabry syndrome | hyperphosphatasia with impaired intellectual development syndrome | hyperphosphatasia-intellectual disability syndrome
BMGC_DS11514,BMG_DS039944,"Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria | hyperparathyroidism, neonatal self-limited primary, with hypercalciuria"
BMGC_DS11515,BMG_DS039945,"hyperopia, high"
BMGC_DS11516,BMG_DS039947,Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria | hyperlysinemia due to defect in lysine transport into mitochondria
BMGC_DS11517,BMG_DS039948,hyperlexia
BMGC_DS11518,BMG_DS039949,seizures-intellectual disability due to hydroxylysinuria syndrome
BMGC_DS11519,BMG_DS039950,L-2-HYDROXYGLUTARIC ACIDURIA | L-2-hydroxyglutaric aciduria
BMGC_DS11520,BMG_DS039952,HYDROLETHALUS SYNDROME 1 | hydrolethalus syndrome 1
BMGC_DS11521,BMG_DS039953,"Daish Hardman Lamont syndrome | Hydrocephalus, tall stature, joint laxity syndrome | Hydrocephalus, tall stature, joint laxity syndrome (disorder) | Hydrocephaly, tall stature, joint laxity syndrome | hydrocephaly-tall stature-joint laxity syndrome"
BMGC_DS11522,BMG_DS039955,Hydranencephaly with Renal Aplasia-Dysplasia | multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
BMGC_DS11523,BMG_DS039956,HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME | Hutterite cerebroosteonephrodysplasia syndrome
BMGC_DS11524,BMG_DS039957,Humeroradial Multiple Synostosis Syndrome | autosomal recessive humeroradial synostosis
BMGC_DS11525,BMG_DS039958,"Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type | methylcobalamin deficiency type cblE"
BMGC_DS11526,BMG_DS039960,Methylenetetrahydrofolate reductase deficiency | homocystinuria due to methylene tetrahydrofolate reductase deficiency
BMGC_DS11527,BMG_DS039961,"Cleft palate, Potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome | Holzgreve Wagner Rehder syndrome | Holzgreve syndrome | Holzgreve syndrome (disorder) | Holzgreve-Wagner-Rehder Syndrome | Holzgreve-Wagner-Rehder syndrome"
BMGC_DS11528,BMG_DS039962,Al Gazali Hirschsprung syndrome | Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
BMGC_DS11529,BMG_DS039963,"Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect | Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect"
BMGC_DS11530,BMG_DS039964,"Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness | Hirschsprung disease-hearing loss-polydactyly syndrome"
BMGC_DS11531,BMG_DS039965,Hirschsprung disease-intellectual disability syndrome | Hirschsprung disease-mental retardation syndrome | Mowat-Wilson syndrome | Mowat-Wilson syndrome (disorder)
BMGC_DS11532,BMG_DS039966,"Bile acid synthesis defect, congenital, 2 | congenital bile acid synthesis defect 2"
BMGC_DS11533,BMG_DS039967,Hepatic venoocclusive disease with immunodeficiency | hepatic veno-occlusive disease-immunodeficiency syndrome | hepatic venoocclusive disease with immunodeficiency
BMGC_DS11534,BMG_DS039969,Hemolytic Anemia with Thermal Sensitivity of Red Cells | hemolytic anemia with thermal sensitivity of red cells
BMGC_DS11535,BMG_DS039970,Urioste Martinez-Frias syndrome | mullerian derivatives-lymphangiectasia-polydactyly syndrome
BMGC_DS11536,BMG_DS039971,"HEMIHYPERPLASIA, ISOLATED | isolated hemihyperplasia"
BMGC_DS11537,BMG_DS039972,Deafness enamel hypoplasia nail defects | obsolete Heimler syndrome
BMGC_DS11538,BMG_DS039973,"Hallux varus, preaxial polysyndactyly syndrome | Hallux varus, preaxial polysyndactyly syndrome (disorder) | Kleiner Holmes syndrome | hallux varus-preaxial polysyndactyly syndrome"
BMGC_DS11539,BMG_DS039974,Hall Riggs mental retardation syndrome | Hall-Riggs syndrome
BMGC_DS11540,BMG_DS039975,Hair defect with photosensitivity and mental retardation | hair defect with photosensitivity and intellectual disability syndrome
BMGC_DS11541,BMG_DS039977,Grouped Pigmentation of the Macula | grouped pigmentation of the retina
BMGC_DS11542,BMG_DS039978,"Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II | granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2"
BMGC_DS11543,BMG_DS039979,"Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I | granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1"
BMGC_DS11544,BMG_DS039980,"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 | autosomal recessive chronic granulomatous disease 4 | granulomatous disease, chronic, autosomal recessive, cytochrome b-negative"
BMGC_DS11545,BMG_DS039981,Granulomatous Disease with Defect in Neutrophil Chemotaxis | granulomatous disease with defect in neutrophil chemotaxis
BMGC_DS11546,BMG_DS039982,Granulocytopenia with Immunoglobulin Abnormality | granulocytopenia with immunoglobulin abnormality | immunodeficiency 59
BMGC_DS11547,BMG_DS039984,"46,XY sex reversal 7"
BMGC_DS11548,BMG_DS039985,GOMBO syndrome
BMGC_DS11549,BMG_DS039986,Glycoprotein Storage Disease | glycoprotein storage disease
BMGC_DS11550,BMG_DS039987,"GSD IV, Classic Hepatic"
BMGC_DS11551,BMG_DS039989,"GSD IV, Neuromuscular Form, Fatal Perinatal | glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form"
BMGC_DS11552,BMG_DS039990,"GSD IV, Neuromuscular Form, Congenital | glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form"
BMGC_DS11553,BMG_DS039991,"GSD IV, Neuromuscular Form, Childhood | glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"
BMGC_DS11554,BMG_DS039994,"Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to | glutathione synthetase deficiency | glutathione synthetase deficiency without 5-oxoprolinuria | inherited glutathione synthetase deficiency"
BMGC_DS11555,BMG_DS039995,Glutaric Aciduria IIA | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | multiple acyl-CoA dehydrogenase deficiency
BMGC_DS11556,BMG_DS039996,Glutaric Aciduria IIB | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | multiple acyl-CoA dehydrogenase deficiency
BMGC_DS11557,BMG_DS039997,Glutaric Aciduria IIC | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | multiple acyl-CoA dehydrogenase deficiency
BMGC_DS11558,BMG_DS039998,"GLAUCOMA 3, PRIMARY CONGENITAL, A | glaucoma 3A"
BMGC_DS11559,BMG_DS040001,"Bernard-Soulier Syndrome, Type B"
BMGC_DS11560,BMG_DS040002,"Bernard-Soulier Syndrome, Type C"
BMGC_DS11561,BMG_DS040003,ghosal hematodiaphyseal dysplasia
BMGC_DS11562,BMG_DS040004,Genito palato cardiac syndrome | genito-palato-cardiac syndrome
BMGC_DS11563,BMG_DS040005,"Gaucher Disease, Type Iiic | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"
BMGC_DS11564,BMG_DS040009,"Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to | congenital nonspherocytic hemolytic anemia 7 | gamma-glutamylcysteine synthetase deficiency"
BMGC_DS11565,BMG_DS040010,Fructose and Galactose Intolerance | fructose and galactose intolerance
BMGC_DS11566,BMG_DS040012,FRIEDREICH ATAXIA 1 | Friedreich ataxia 1
BMGC_DS11567,BMG_DS040014,Fraser-Like Syndrome | Fraser-like syndrome
BMGC_DS11568,BMG_DS040015,"Follicle-stimulating hormone deficiency, isolated"
BMGC_DS11569,BMG_DS040016,"Fleck Retina, Familial Benign | familial benign fleck retina | familial benign flecked retina"
BMGC_DS11570,BMG_DS040017,"Kininogen Deficiency, Total"
BMGC_DS11571,BMG_DS040019,Fuhrmann Rieger de Sousa syndrome | Fuhrmann syndrome | Fuhrmann syndrome (disorder)
BMGC_DS11572,BMG_DS040020,Fibular hypoplasia and complex brachydactyly | acromesomelic dysplasia 2B | fibular hypoplasia and complex brachydactyly
BMGC_DS11573,BMG_DS040023,Femur bifid with monodactylous ectrodactyly | Gollop-Wolfgang complex
BMGC_DS11574,BMG_DS040027,Aarskog-like syndrome | Autosomal recessive facio-digito-genital syndrome | Autosomal recessive faciodigitogenital syndrome | Autosomal recessive faciodigitogenital syndrome (disorder) | Facio-digito-genital syndrome Kuwait type | Teebi Naguib Alawadi syndrome | autosomal recessive faciodigitogenital syndrome
BMGC_DS11575,BMG_DS040028,"Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor | factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor"
BMGC_DS11576,BMG_DS040029,combined deficiency of factor V and factor VIII
BMGC_DS11577,BMG_DS040030,"Faciocardiomelic Dysplasia, Lethal | lethal faciocardiomelic dysplasia"
BMGC_DS11578,BMG_DS040031,Facial Dysmorphism with Multiple Malformations | Thakker-Donnai syndrome
BMGC_DS11579,BMG_DS040034,"Eunuchoidism, familial hypogonadotropic | hypogonadotropic hypogonadism 12 with or without anosmia"
BMGC_DS11580,BMG_DS040035,congenital lethal erythroderma
BMGC_DS11581,BMG_DS040036,Ermine phenotype | ermine phenotype
BMGC_DS11582,BMG_DS040037,erythema of acral regions
BMGC_DS11583,BMG_DS040039,"Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness | epiphyseal dysplasia of femoral head, myopia, and deafness"
BMGC_DS11584,BMG_DS040040,Epilepsy telangiectasia | epilepsy-telangiectasia syndrome
BMGC_DS11585,BMG_DS040041,Epilepsy occipital calcifications | celiac disease-epilepsy-cerebral calcification syndrome
BMGC_DS11586,BMG_DS040042,"Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation | epilepsy, photogenic, with spastic diplegia and intellectual disability"
BMGC_DS11587,BMG_DS040043,Epidermolysis Bullosa With Diaphragmatic Hernia | epidermolysis bullosa with diaphragmatic hernia
BMGC_DS11588,BMG_DS040044,Epidermolysis bullosa with pyloric atresia
BMGC_DS11589,BMG_DS040047,Endocardial Fibroelastosis and Coarctation of Abdominal Aorta | endocardial fibroelastosis and coarctation of abdominal aorta
BMGC_DS11590,BMG_DS040048,Encephaloclastic Proliferative Vasculopathy | Fowler syndrome | proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
BMGC_DS11591,BMG_DS040050,Congenital pontocerebellar hypoplasia type 4 | Congenital pontocerebellar hypoplasia type 4 (disorder) | Fatal infantile encephalopathy with olivopontocerebellar hypoplasia | PCH4 - pontocerebellar hypoplasia type 4 | Pontocerebellar hypoplasia type 4 | pontocerebellar hypoplasia type 4
BMGC_DS11592,BMG_DS040052,"Encephalomalacia, Multilocular | encephalomalacia, multilocular"
BMGC_DS11593,BMG_DS040055,"Ehlers-Danlos syndrome, cardiac valvular form"
BMGC_DS11594,BMG_DS040056,"Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality | Ehlers-Danlos syndrome, fibronectinemic type"
BMGC_DS11595,BMG_DS040057,Ectrodactyly-Polydactyly | ectrodactyly-polydactyly syndrome
BMGC_DS11596,BMG_DS040058,"EEM syndrome | Ectodermal dysplasia, ectrodactyly, and macular dystrophy"
BMGC_DS11597,BMG_DS040059,"Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia | hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome"
BMGC_DS11598,BMG_DS040061,Ectodermal Dysplasia and Neurosensory Deafness | ectodermal dysplasia-sensorineural deafness syndrome
BMGC_DS11599,BMG_DS040062,SchC6pf-Schulz-Passarge syndrome | Schopf-Schulz-Passarge Syndrome | Schopf-Schulz-Passarge syndrome
BMGC_DS11600,BMG_DS040065,Dystonia musculorum deformans type 2 | torsion dystonia 2
BMGC_DS11601,BMG_DS040066,Dyssegmental dysplasia | Silverman-Handmaker type dyssegmental dysplasia
BMGC_DS11602,BMG_DS040068,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 | autosomal recessive dyskeratosis congenita 1 | dyskeratosis congenita, autosomal recessive 1"
BMGC_DS11603,BMG_DS040069,Dysautonomia like disorder | dysautonomia-like disorder
BMGC_DS11604,BMG_DS040070,"Dwarfism, Proportionate, with Hip Dislocation | dwarfism, proportionate, with hip dislocation"
BMGC_DS11605,BMG_DS040071,"Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone | dwarfism, low-birth-weight type, with unresponsiveness to growth hormone"
BMGC_DS11606,BMG_DS040072,Dohle bodies and leukemia
BMGC_DS11607,BMG_DS040073,DK Phocomelia Syndrome | von Voss-Cherstvoy syndrome
BMGC_DS11608,BMG_DS040077,"Rhizomelic chondrodysplasia punctata, type 2 | rhizomelic chondrodysplasia punctata type 2"
BMGC_DS11609,BMG_DS040078,"2,4-Dienoyl-CoA Reductase Deficiency | progressive encephalopathy with leukodystrophy due to DECR deficiency"
BMGC_DS11610,BMG_DS040079,Dicarboxylicaminoaciduria | dicarboxylic aminoaciduria
BMGC_DS11611,BMG_DS040080,"Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant"
BMGC_DS11612,BMG_DS040081,Trichohepatoenteric Syndrome | trichohepatoenteric syndrome
BMGC_DS11613,BMG_DS040082,Diaphragmatic hernia-exomphalos-corpus callosum agenesis | Diaphragmatic hernia-exomphalos-hypertelorism syndrome | Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) | Donnai-Barrow syndrome | Faciooculoacousticorenal syndrome
BMGC_DS11614,BMG_DS040083,diaphragmatic hernia 2
BMGC_DS11615,BMG_DS040084,Diaminopentanuria | diaminopentanuria
BMGC_DS11616,BMG_DS040085,"Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification | nephrogenic diabetes insipidus-intracranial calcification syndrome"
BMGC_DS11617,BMG_DS040088,Dermatoleukodystrophy | Dermatoleukodystrophy (disorder) | dermatoleukodystrophy
BMGC_DS11618,BMG_DS040089,Nasu-Hakola disease | polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
BMGC_DS11619,BMG_DS040090,"Deafness, Sensorineural, Autosomal-Mitochondrial Type | hearing loss, sensorineural, autosomal-mitochondrial type"
BMGC_DS11620,BMG_DS040091,Deafness oligodontia syndrome | deafness-oligodontia syndrome
BMGC_DS11621,BMG_DS040092,"Deafness, Neural, with Atypical Atopic Dermatitis | deafness, neural, with atypical atopic dermatitis"
BMGC_DS11622,BMG_DS040093,"Deafness, Neural, Congenital Moderate | deafness, neural, congenital moderate"
BMGC_DS11623,BMG_DS040094,"Deafness, small bowel diverticulosis, neuropathy syndrome | Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Groll Hirschowitz syndrome | deafness-small bowel diverticulosis-neuropathy syndrome"
BMGC_DS11624,BMG_DS040095,"Deafness, Congenital, with Vitiligo and Achalasia | deafness-vitiligo-achalasia syndrome"
BMGC_DS11625,BMG_DS040096,Deafness conductive ptosis skeletal anomalies | conductive deafness-ptosis-skeletal anomalies syndrome
BMGC_DS11626,BMG_DS040097,"Deafness, Conductive, with Malformed External Ear | conductive deafness-malformed external ear syndrome"
BMGC_DS11627,BMG_DS040099,"Deafness, Congenital, with Total Albinism | deafness, congenital, with total albinism"
BMGC_DS11628,BMG_DS040100,Split-Hand-Foot Malformation With Sensorineural Hearing Loss | split hand-foot malformation 1 with sensorineural hearing loss
BMGC_DS11629,BMG_DS040102,Dandy Walker malformation postaxial polydactyly | Dandy-Walker malformation-postaxial polydactyly syndrome
BMGC_DS11630,BMG_DS040104,"French Canadian Leigh disease | Leigh syndrome , French Canadian type | congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"
BMGC_DS11631,BMG_DS040105,"Cystinuria, Type A | cystinuria type A"
BMGC_DS11632,BMG_DS040106,"Cystinuria, Type B | cystinuria type B"
BMGC_DS11633,BMG_DS040108,De Toni-Debre-Fanconi Syndrome | Fanconi Syndrome | primary Fanconi syndrome
BMGC_DS11634,BMG_DS040109,Cystic Kidney Disease with Ventriculomegaly | ventriculomegaly - cystic kidney disease | ventriculomegaly-cystic kidney disease
BMGC_DS11635,BMG_DS040111,Cysteine Peptiduria | cysteine Peptiduria
BMGC_DS11636,BMG_DS040113,CUTIS VERTICIS GYRATA AND IMPAIRED INTELLECTUAL DEVELOPMENT | cutis verticis gyrata and intellectual disability
BMGC_DS11637,BMG_DS040114,"Cutaneous photosensitivity and colitis, lethal | cutaneous photosensitivity-lethal colitis syndrome"
BMGC_DS11638,BMG_DS040115,ACTH-independent macronodular adrenal hyperplasia 1 | Acth-Independent Macronodular Adrenal Hyperplasia
BMGC_DS11639,BMG_DS040116,curved nail of fourth toe
BMGC_DS11640,BMG_DS040118,Craniosynostosis Mental Retardation Clefting Syndrome | craniosynostosis-intellectual disability-clefting syndrome
BMGC_DS11641,BMG_DS040120,Craniosynostosis with Fibular Aplasia | craniosynostosis-fibular aplasia syndrome
BMGC_DS11642,BMG_DS040123,Craniofacial dyssynostosis | craniofacial dyssynostosis
BMGC_DS11643,BMG_DS040124,Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) | Temtamy Shalash syndrome | Temtamy syndrome | temtamy syndrome
BMGC_DS11644,BMG_DS040125,"Cranial Nerves, Recurrent Paresis Of | cranial nerves, recurrent paresis of"
BMGC_DS11645,BMG_DS040126,"Cranial Nerves, Congenital Paresis Of | cranial nerves, congenital paresis of"
BMGC_DS11646,BMG_DS040128,"cramps, familial adolescent"
BMGC_DS11647,BMG_DS040130,congenital hereditary endothelial dystrophy of cornea
BMGC_DS11648,BMG_DS040132,CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS | corneal dystrophy-perceptive deafness syndrome
BMGC_DS11649,BMG_DS040133,CORNEA PLANA 2 | cornea plana 2
BMGC_DS11650,BMG_DS040134,"Convulsive Disorder, Familial, with Prenatal or Early Onset | convulsive disorder, familial, with prenatal or early onset"
BMGC_DS11651,BMG_DS040135,"Contractures, Congenital, Torticollis, and Malignant Hyperthermia | multiple pterygium-malignant hyperthermia syndrome"
BMGC_DS11652,BMG_DS040136,ADAM COMPLEX
BMGC_DS11653,BMG_DS040139,Conotruncal cardiac defects | conotruncal heart malformations
BMGC_DS11654,BMG_DS040140,Orstavik Lindemann Solberg syndrome | heart defect - tongue hamartoma - polysyndactyly syndrome
BMGC_DS11655,BMG_DS040141,Amaurosis hypertrichosis | amaurosis-hypertrichosis syndrome
BMGC_DS11656,BMG_DS040143,Achromatopsia 2 | achromatopsia 2
BMGC_DS11657,BMG_DS040144,Coloboma of Macula and Skeletal Anomalies | macular coloboma-cleft palate-hallux valgus syndrome
BMGC_DS11658,BMG_DS040145,"COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING | familial reactive perforating collagenosis"
BMGC_DS11659,BMG_DS040147,"COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome | COACH syndrome | Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis | Gentile syndrome | Joubert syndrome with congenital hepatic fibrosis | Joubert syndrome with congenital hepatic fibrosis (disorder) | Joubert syndrome with hepatic defect"
BMGC_DS11660,BMG_DS040148,Yunis Varon syndrome | Yunis-Varon syndrome
BMGC_DS11661,BMG_DS040149,Combined Oxidative Phosphorylation Deficiency 4 | combined oxidative phosphorylation defect type 4 | combined oxidative phosphorylation deficiency 4
BMGC_DS11662,BMG_DS040150,"Telangiectasia, Hereditary Hemorrhagic, Type 4 | hereditary hemorrhagic telangiectasia type 4"
BMGC_DS11663,BMG_DS040152,"Anemia, Diamond-Blackfan, 3 | Diamond-Blackfan anemia 3 | Diamond-blackfan anemia 3"
BMGC_DS11664,BMG_DS040154,Hereditary Angioedema Type III | hereditary angioedema type 3 | hereditary angioedema type III
BMGC_DS11665,BMG_DS040155,Leber Congenital Amaurosis 12 | Leber congenital amaurosis 12
BMGC_DS11666,BMG_DS040156,"DEAFNESS, AUTOSOMAL RECESSIVE 59 | autosomal recessive nonsyndromic hearing loss 59"
BMGC_DS11667,BMG_DS040157,Neurodegeneration With Brain Iron Accumulation 2B | neurodegeneration with brain iron accumulation 2B
BMGC_DS11668,BMG_DS040159,"DEAFNESS, AUTOSOMAL RECESSIVE 66 | autosomal recessive nonsyndromic hearing loss 66"
BMGC_DS11669,BMG_DS040160,"migraine with or without aura, susceptibility to, 11"
BMGC_DS11670,BMG_DS040161,"migraine with or without aura, susceptibility to, 10"
BMGC_DS11671,BMG_DS040162,Alagille Syndrome | Alagille Syndrome 2 | Alagille syndrome due to a NOTCH2 point mutation
BMGC_DS11672,BMG_DS040163,"Olivopontocerebellar hypoplasia, fetal-onset | pontocerebellar hypoplasia type 5"
BMGC_DS11673,BMG_DS040165,"Cataract, Pulverulent, Juvenile-Onset | cataract 21 multiple types"
BMGC_DS11674,BMG_DS040166,"Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism | neonatal diabetes mellitus with congenital hypothyroidism"
BMGC_DS11675,BMG_DS040167,"3-@METHYLGLUTACONIC ACIDURIA, TYPE V | 3-methylglutaconic aciduria type 5"
BMGC_DS11676,BMG_DS040168,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 | arrhythmogenic right ventricular dysplasia 10"
BMGC_DS11677,BMG_DS040169,SENIOR-LOKEN SYNDROME 6 | Senior-Loken syndrome 6
BMGC_DS11678,BMG_DS040170,JOUBERT SYNDROME 5 | Joubert syndrome 5
BMGC_DS11679,BMG_DS040171,diaphragmatic hernia 3
BMGC_DS11680,BMG_DS040173,Immunodeficiency due to Defect in CD3-Zeta | immunodeficiency 25
BMGC_DS11681,BMG_DS040174,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2 | corneal dystrophy, fuchs endothelial, 2"
BMGC_DS11682,BMG_DS040175,"Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome | MORM syndrome | Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome"
BMGC_DS11683,BMG_DS040177,"Diabetes Mellitus, Insulin-Dependent, 19 | type 1 diabetes mellitus 19"
BMGC_DS11684,BMG_DS040178,"DEAFNESS, AUTOSOMAL RECESSIVE 44 | autosomal recessive nonsyndromic hearing loss 44"
BMGC_DS11685,BMG_DS040179,"DEAFNESS, AUTOSOMAL RECESSIVE 49 | autosomal recessive nonsyndromic hearing loss 49"
BMGC_DS11686,BMG_DS040180,"Macular Degeneration, Age-Related, 7 | age related macular degeneration 7"
BMGC_DS11687,BMG_DS040181,"DEAFNESS, AUTOSOMAL RECESSIVE 62 | autosomal recessive nonsyndromic hearing loss 62"
BMGC_DS11688,BMG_DS040182,Leber Congenital Amaurosis 10 | Leber congenital amaurosis 10
BMGC_DS11689,BMG_DS040184,"Heart-hand syndrome, Slovenian type | heart-hand syndrome, Slovenian type"
BMGC_DS11690,BMG_DS040187,7q11.23 microduplication syndrome | Williams-Beuren Region Duplication Syndrome
BMGC_DS11691,BMG_DS040188,"celiac disease, susceptibility to, 3"
BMGC_DS11692,BMG_DS040190,"celiac disease, susceptibility to, 4"
BMGC_DS11693,BMG_DS040193,"Cataract, Congenital Nuclear, Autosomal Recessive 2 | cataract 22 multiple types"
BMGC_DS11694,BMG_DS040194,Proopiomelanocortin Deficiency | obesity due to pro-opiomelanocortin deficiency
BMGC_DS11695,BMG_DS040195,"SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT | hereditary spastic paraplegia 29"
BMGC_DS11696,BMG_DS040196,"Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology | Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology"
BMGC_DS11697,BMG_DS040197,Brooke-Spiegler syndrome | Brooke-Spiegler syndrome (disorder) | Spiegler-Brooke syndrome
BMGC_DS11698,BMG_DS040201,"Diabetes Mellitus, Congenital Autoimmune | diabetes mellitus, congenital autoimmune"
BMGC_DS11699,BMG_DS040202,"Hypobetalipoproteinemia, Familial, 2 | familial hypobetalipoproteinemia 2"
BMGC_DS11700,BMG_DS040203,MICROHYDRANENCEPHALY | NDE1-related microhydranencephaly
BMGC_DS11701,BMG_DS040204,WOLFRAM SYNDROME 2 | Wolfram syndrome 2
BMGC_DS11702,BMG_DS040206,Becker Nevus Syndrome | Becker nevus syndrome
BMGC_DS11703,BMG_DS040207,Okamoto syndrome | Okamoto syndrome (disorder)
BMGC_DS11704,BMG_DS040208,schizophrenia 9
BMGC_DS11705,BMG_DS040209,NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS | hereditary North American Indian childhood cirrhosis
BMGC_DS11706,BMG_DS040210,BARDET-BIEDL SYNDROME 6 | Bardet-Biedl syndrome 6
BMGC_DS11707,BMG_DS040211,ASTHMA AND NASAL POLYPS
BMGC_DS11708,BMG_DS040212,"Retinal Dystrophy, Early Onset Severe"
BMGC_DS11709,BMG_DS040214,"Stickler syndrome type 2 | Stickler syndrome, type 2"
BMGC_DS11710,BMG_DS040216,"Spastic paraplegia 12, autosomal dominant | hereditary spastic paraplegia 12"
BMGC_DS11711,BMG_DS040217,"Microcephaly, Primary Autosomal Recessive, 3 | microcephaly 3, primary, autosomal recessive"
BMGC_DS11712,BMG_DS040218,Huntington disease-like 3
BMGC_DS11713,BMG_DS040219,Caudate atrophy
BMGC_DS11714,BMG_DS040220,"Muscular Dystrophy, Congenital, 1B | congenital muscular dystrophy 1B"
BMGC_DS11715,BMG_DS040221,"Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive | autosomal recessive congenital ichthyosis 5"
BMGC_DS11716,BMG_DS040223,"CARDIOMYOPATHY, DILATED, 1I | dilated cardiomyopathy 1I"
BMGC_DS11717,BMG_DS040224,craniosynostosis 2
BMGC_DS11718,BMG_DS040225,"Deafness, Autosomal Dominant 20 | autosomal dominant nonsyndromic hearing loss 20"
BMGC_DS11719,BMG_DS040229,"Bare Lymphocyte Syndrome, Type I | MHC class I deficiency"
BMGC_DS11720,BMG_DS040230,"Charcot-Marie-Tooth disease type 4B2 | Charcot-Marie-Tooth disease, Type 4B2"
BMGC_DS11721,BMG_DS040231,"Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma"
BMGC_DS11722,BMG_DS040233,LEBER CONGENITAL AMAUROSIS 5 | Leber congenital amaurosis 5
BMGC_DS11723,BMG_DS040234,Ectodermal Dysplasia-Skin Fragility Syndrome | epidermolysis bullosa simplex due to plakophilin deficiency
BMGC_DS11724,BMG_DS040235,INFLAMMATORY BOWEL DISEASE 3 | inflammatory bowel disease 3
BMGC_DS11725,BMG_DS040237,"Bile acid synthesis defect, congenital, 4 | congenital bile acid synthesis defect 4"
BMGC_DS11726,BMG_DS040238,"Neuropathy, hereditary motor and sensory, Okinawa type | hereditary motor and sensory neuropathy, Okinawa type"
BMGC_DS11727,BMG_DS040240,SPINOCEREBELLAR ATAXIA 11 | spinocerebellar ataxia type 11
BMGC_DS11728,BMG_DS040242,pyogenic arthritis-pyoderma gangrenosum-acne syndrome
BMGC_DS11729,BMG_DS040243,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 | arrhythmogenic right ventricular dysplasia 6"
BMGC_DS11730,BMG_DS040244,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 | arrhythmogenic right ventricular dysplasia 5"
BMGC_DS11731,BMG_DS040245,"colorectal cancer, hereditary nonpolyposis, type 7"
BMGC_DS11732,BMG_DS040246,Leber Congenital Amaurosis 4 | Leber congenital amaurosis 4
BMGC_DS11733,BMG_DS040247,ataxia-telangiectasia-like disorder
BMGC_DS11734,BMG_DS040248,NEPHRONOPHTHISIS 3 | nephronophthisis 3
BMGC_DS11735,BMG_DS040250,Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies | patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
BMGC_DS11736,BMG_DS040252,"Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency"
BMGC_DS11737,BMG_DS040253,"Epilepsy, Partial, with Variable Foci | familial focal epilepsy with variable foci"
BMGC_DS11738,BMG_DS040255,"Spastic paraplegia 11, autosomal recessive | hereditary spastic paraplegia 11"
BMGC_DS11739,BMG_DS040256,"febrile seizures, familial, 4"
BMGC_DS11740,BMG_DS040257,"Advanced Sleep-Phase Syndrome, Familial | advanced sleep phase syndrome"
BMGC_DS11741,BMG_DS040259,Spinocerebellar Ataxia 12 | spinocerebellar ataxia type 12
BMGC_DS11742,BMG_DS040260,"Acne, Adult | adult acne"
BMGC_DS11743,BMG_DS040261,"MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 4, primary, autosomal recessive | primary autosomal recessive microcephaly 4"
BMGC_DS11744,BMG_DS040262,SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 | autosomal recessive distal spinal muscular atrophy 1
BMGC_DS11745,BMG_DS040263,"MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS | microcephaly 2, primary, autosomal recessive, with or without cortical malformations | primary autosomal recessive microcephaly 2 with or without cortical malformations"
BMGC_DS11746,BMG_DS040266,"Blepharophimosis with Facial and Genital Anomalies and Mental Retardation | blepharophimosis - intellectual disability syndrome, Verloes type"
BMGC_DS11747,BMG_DS040267,MASS syndrome | OVERLAP CONNECTIVE TISSUE DISEASE
BMGC_DS11748,BMG_DS040268,"Rheumatoid Arthritis, Systemic Juvenile | systemic-onset juvenile idiopathic arthritis"
BMGC_DS11749,BMG_DS040269,"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3"
BMGC_DS11750,BMG_DS040271,"Cardiomyopathy, Dilated, 1h | dilated cardiomyopathy 1H"
BMGC_DS11751,BMG_DS040272,Carney Triad | Carney triad
BMGC_DS11752,BMG_DS040273,"Limb-girdle muscular dystrophy, type 2E | autosomal recessive limb-girdle muscular dystrophy type 2E"
BMGC_DS11753,BMG_DS040274,"Short Stature, Idiopathic, Autosomal | short stature due to partial GHR deficiency"
BMGC_DS11754,BMG_DS040277,"HEMOCHROMATOSIS, TYPE 3 | hemochromatosis type 3"
BMGC_DS11755,BMG_DS040278,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 | generalized epilepsy with febrile seizures plus 1 | generalized epilepsy with febrile seizures plus, type 1"
BMGC_DS11756,BMG_DS040279,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 | generalized epilepsy with febrile seizures plus 2 | generalized epilepsy with febrile seizures plus, type 2"
BMGC_DS11757,BMG_DS040280,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 | familial febrile seizures 8"
BMGC_DS11758,BMG_DS040281,Leber Congenital Amaurosis 3 | Leber congenital amaurosis 3
BMGC_DS11759,BMG_DS040282,"CATARACT, AUTOSOMAL DOMINANT | cataract 9 multiple types"
BMGC_DS11760,BMG_DS040283,Familial dementia with neuroserpin inclusion bodies | Familial encephalopathy with neuroserpin inclusion bodies | Familial encephalopathy with neuroserpin inclusion bodies (disorder) | familial encephalopathy with neuroserpin inclusion bodies
BMGC_DS11761,BMG_DS040284,Chudley-McCullough syndrome | Chudley-Mccullough syndrome
BMGC_DS11762,BMG_DS040287,"Spastic paraplegia 10, autosomal dominant | hereditary spastic paraplegia 10"
BMGC_DS11763,BMG_DS040288,"Facial paresis, hereditary, congenital | facial paresis, hereditary congenital, 2"
BMGC_DS11764,BMG_DS040289,Poikiloderma with Neutropenia | poikiloderma with neutropenia
BMGC_DS11765,BMG_DS040291,left ventricular noncompaction 1
BMGC_DS11766,BMG_DS040292,"Congenital Cataracts, Facial Dysmorphism, And Neuropathy | congenital cataracts-facial dysmorphism-neuropathy syndrome"
BMGC_DS11767,BMG_DS040294,"Cardiomyopathy, Dilated, 1g | dilated cardiomyopathy 1G"
BMGC_DS11768,BMG_DS040295,"Cerebellar Ataxia, Deafness, and Narcolepsy"
BMGC_DS11769,BMG_DS040296,"Vohwinkel Syndrome, Variant Form | loricrin keratoderma"
BMGC_DS11770,BMG_DS040297,Cone-Rod Dystrophy 3 | cone-rod dystrophy 3
BMGC_DS11771,BMG_DS040298,"DEAFNESS, AUTOSOMAL RECESSIVE 20 | autosomal recessive nonsyndromic hearing loss 20"
BMGC_DS11772,BMG_DS040299,megalencephalic leukoencephalopathy with subcortical cysts | megalencephalic leukoencephalopathy with subcortical cysts 1
BMGC_DS11773,BMG_DS040300,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 | focal segmental glomerulosclerosis 2
BMGC_DS11774,BMG_DS040301,"DEAFNESS, AUTOSOMAL DOMINANT 16 | autosomal dominant nonsyndromic hearing loss 16"
BMGC_DS11775,BMG_DS040304,"Autoimmune Lymphoproliferative Syndrome, Type IIA | autoimmune lymphoproliferative syndrome type 2A"
BMGC_DS11776,BMG_DS040305,"Beta Thalassemia, Dominant Inclusion Body Type | dominant beta-thalassemia"
BMGC_DS11777,BMG_DS040306,Childhood Ataxia with Central Nervous System Hypomyelinization | Leukoencephalopathies | leukoencephalopathy with vanishing white matter
BMGC_DS11778,BMG_DS040307,CCHS WITH HIRSCHSPRUNG DISEASE | Haddad syndrome
BMGC_DS11779,BMG_DS040308,LONG QT SYNDROME 3 | long QT syndrome 3
BMGC_DS11780,BMG_DS040310,"Cleidocranial Dysplasia, Recessive Form | cleidocranial dysplasia, recessive form"
BMGC_DS11781,BMG_DS040311,"Cleft Palate, Deafness, and Oligodontia | cleft palate-stapes fixation-oligodontia syndrome"
BMGC_DS11782,BMG_DS040312,Verloove Vanhorick-Brubakk syndrome | Verloove-Vanhorick Brubakk syndrome
BMGC_DS11783,BMG_DS040313,"Novak syndrome | cleft larynx, posterior"
BMGC_DS11784,BMG_DS040314,Citrulline transport defect | citrulline transport defect
BMGC_DS11785,BMG_DS040315,"COPPER TOXICOSIS, IDIOPATHIC"
BMGC_DS11786,BMG_DS040316,Circumvallate Placenta Syndrome | circumvallate placenta syndrome
BMGC_DS11787,BMG_DS040318,Choroid plexus calcification with mental retardation | infantile choroidocerebral calcification syndrome
BMGC_DS11788,BMG_DS040319,"Boucher-Neuhauser syndrome | Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | ataxia-hypogonadism-choroidal dystrophy syndrome"
BMGC_DS11789,BMG_DS040320,"Chorea, Benign Familial | chorea, benign familial"
BMGC_DS11790,BMG_DS040322,"Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome | chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome"
BMGC_DS11791,BMG_DS040324,"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | rhizomelic chondrodysplasia punctata type 1"
BMGC_DS11792,BMG_DS040325,Chondrodysplasia Calcificans Metaphysealis | chondrodysplasia calcificans Metaphysealis
BMGC_DS11793,BMG_DS040326,"Chondrodysplasia, blomstrand type | chondrodysplasia Blomstrand type"
BMGC_DS11794,BMG_DS040329,"GRISCELLI SYNDROME, TYPE 1 | Griscelli syndrome type 1"
BMGC_DS11795,BMG_DS040330,"Charcot-Marie-Tooth disease type 4A | Charcot-Marie-Tooth disease, Type 4A"
BMGC_DS11796,BMG_DS040331,"Klippel Feil syndrome recessive type | Klippel-Feil syndrome 2, autosomal recessive"
BMGC_DS11797,BMG_DS040333,Cerebrofaciothoracic Dysplasia
BMGC_DS11798,BMG_DS040335,Pelizaeus-Merzbacher like brain sclerosis | cerebral sclerosis similar to Pelizaeus-Merzbacher disease
BMGC_DS11799,BMG_DS040337,"Cerebral Angiopathy, Dysphoric | cerebral angiopathy, dysphoric"
BMGC_DS11800,BMG_DS040338,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 | autosomal recessive spinocerebellar ataxia 2"
BMGC_DS11801,BMG_DS040339,Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome | hepatic fibrosis-renal cysts-intellectual disability syndrome
BMGC_DS11802,BMG_DS040340,"Cerebellar Ataxia, Benign, with Thermoanalgesia | cerebellar ataxia, benign, with thermoanalgesia"
BMGC_DS11803,BMG_DS040341,Cerebellar Ataxia and Neurosensory Deafness | cerebellar ataxia and neurosensory deafness
BMGC_DS11804,BMG_DS040342,Cerebellar Ataxia and Hypogonadotropic Hypogonadism | Gordon Holmes syndrome | cerebellar ataxia-hypogonadism syndrome
BMGC_DS11805,BMG_DS040344,Cephalin Lipidosis | cephalin lipidosis
BMGC_DS11806,BMG_DS040345,PREMATURE CENTROMERE DIVISION | premature centromere division
BMGC_DS11807,BMG_DS040346,Cenani-Lenz syndactyly syndrome | Syndactyly Cenani Lenz type
BMGC_DS11808,BMG_DS040347,"celiac disease, susceptibility to, 1"
BMGC_DS11809,BMG_DS040348,"Microphthalmia, Isolated, with Cataract 2"
BMGC_DS11810,BMG_DS040350,Cataract and congenital ichthyosis | congenital cataract-ichthyosis syndrome
BMGC_DS11811,BMG_DS040351,CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME | autosomal recessive palmoplantar keratoderma and congenital alopecia | palmoplantar keratoderma and congenital alopecia 2
BMGC_DS11812,BMG_DS040352,Cataract and cardiomyopathy | Sengers syndrome
BMGC_DS11813,BMG_DS040353,"Myopathic carnitine deficiency | carnitine deficiency, myopathic"
BMGC_DS11814,BMG_DS040355,Cardiomyopathy Associated With Myopathy And Sudden Death | cardiomyopathy associated with myopathy and sudden death
BMGC_DS11815,BMG_DS040356,Cardioauditory syndrome of Sanchez Cascos | cardioauditory syndrome of Sanchez Cascos
BMGC_DS11816,BMG_DS040358,Cardiac Septal Defects with Coarctation of the Aorta | cardiac septal defects with coarctation of the aorta
BMGC_DS11817,BMG_DS040359,"Cardiac Lipidosis, Familial | cardiac lipidosis, familial"
BMGC_DS11818,BMG_DS040360,"Candidiasis, Familial, 2 | predisposition to invasive fungal disease due to CARD9 deficiency"
BMGC_DS11819,BMG_DS040361,"Camptomelic syndrome long limb type | camptomelic syndrome, long-limb type"
BMGC_DS11820,BMG_DS040363,Tel Hashomer camptodactyly syndrome | Tel Hashomer camptodactyly syndrome (disorder)
BMGC_DS11821,BMG_DS040365,"Campomelia Cumming type | Campomelia Cumming type (disorder) | Cumming syndrome | campomelia, Cumming type"
BMGC_DS11822,BMG_DS040366,Calcification of Joints and Arteries | hereditary arterial and articular multiple calcification syndrome
BMGC_DS11823,BMG_DS040368,"Brachydactyly, Type A2, With Microcephaly | brachydactyly, type A2, with microcephaly"
BMGC_DS11824,BMG_DS040371,Bowen Hutterite syndrome | Bowen-Conradi Hutterite syndrome | Bowen-Conradi syndrome | Bowen-Conradi syndrome (disorder) | Hutterite syndrome
BMGC_DS11825,BMG_DS040373,"Blepharophimosis with ptosis, syndactyly, and short stature | blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome"
BMGC_DS11826,BMG_DS040375,"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | microcephalic osteodysplastic primordial dwarfism type I"
BMGC_DS11827,BMG_DS040376,"Bird headed dwarfism Montreal type | bird headed-dwarfism, Montreal type"
BMGC_DS11828,BMG_DS040377,BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | Bietti crystalline corneoretinal dystrophy
BMGC_DS11829,BMG_DS040378,Biemond syndrome II | Biemond syndrome type 2
BMGC_DS11830,BMG_DS040379,3-methylcrotonyl CoA carboxylase 2 deficiency | 3-methylcrotonyl-CoA carboxylase 2 deficiency
BMGC_DS11831,BMG_DS040380,"Beta-Aminoisobutyric Acid, Urinary Excretion of | beta-aminoisobutyric acid, urinary excretion of"
BMGC_DS11832,BMG_DS040381,"Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification | berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification"
BMGC_DS11833,BMG_DS040382,"Beemer Ertbruggen syndrome | Beemer lethal malformation syndrome | Beemer-Ertbruggen syndrome | Hydrocephalus, cardiac malformation, dense bone syndrome | Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)"
BMGC_DS11834,BMG_DS040387,"Bare Lymphocyte Syndrome, Type II, Complementation Group B | MHC class II deficiency 2"
BMGC_DS11835,BMG_DS040388,"Bare Lymphocyte Syndrome, Type II, Complementation Group C | MHC class II deficiency 3"
BMGC_DS11836,BMG_DS040389,"Bare Lymphocyte Syndrome, Type II, Complementation Group D | MHC class II deficiency 4"
BMGC_DS11837,BMG_DS040390,"Bare Lymphocyte Syndrome, Type II, Complementation Group E | MHC class II deficiency 5"
BMGC_DS11838,BMG_DS040391,Bardet-Biedl syndrome 3
BMGC_DS11839,BMG_DS040392,BARDET-BIEDL SYNDROME 7 | Bardet-Biedl syndrome 7
BMGC_DS11840,BMG_DS040393,BARDET-BIEDL SYNDROME 8 | Bardet-Biedl syndrome 8
BMGC_DS11841,BMG_DS040394,BARDET-BIEDL SYNDROME 9 | Bardet-Biedl syndrome 9
BMGC_DS11842,BMG_DS040395,BARDET-BIEDL SYNDROME 10 | Bardet-Biedl syndrome 10
BMGC_DS11843,BMG_DS040396,BARDET-BIEDL SYNDROME 11 | Bardet-Biedl syndrome 11
BMGC_DS11844,BMG_DS040397,BARDET-BIEDL SYNDROME 12 | Bardet-Biedl syndrome 12
BMGC_DS11845,BMG_DS040398,"Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation | Cooper-Jabs syndrome"
BMGC_DS11846,BMG_DS040399,ATRICHIA WITH PAPULAR LESIONS | atrichia with papular lesions
BMGC_DS11847,BMG_DS040400,Atonic-Astatic Syndrome of Foerster | atonic-astatic syndrome of Foerster
BMGC_DS11848,BMG_DS040401,"Athrombia, Essential | Athrombia, essential"
BMGC_DS11849,BMG_DS040402,"Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease | atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"
BMGC_DS11850,BMG_DS040403,"ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | ataxia with oculomotor apraxia type 1 | ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"
BMGC_DS11851,BMG_DS040405,"Ataxia, Deafness, and Cardiomyopathy | ataxia, deafness, and cardiomyopathy"
BMGC_DS11852,BMG_DS040406,Ataxia with Myoclonic Epilepsy and Presenile Dementia | ataxia with myoclonic epilepsy and presenile dementia
BMGC_DS11853,BMG_DS040407,"Asthma, Short Stature, and Elevated IgA | asthma, short stature, and elevated IgA"
BMGC_DS11854,BMG_DS040408,"Asthma, Nasal Polyps, And Aspirin Intolerance | asthma, nasal polyps, and aspirin intolerance"
BMGC_DS11855,BMG_DS040409,CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME | camptodactyly-arthropathy-coxa vara-pericarditis syndrome
BMGC_DS11856,BMG_DS040411,Kuskokwim disease | arthrogryposis-like syndrome
BMGC_DS11857,BMG_DS040412,"Arthrogryposis hyperkeratosis syndrome lethal form | Arthrogryposis hyperkeratosis syndrome lethal form (disorder) | Johnston Aarons Schelley syndrome | arthrogryposis-hyperkeratosis syndrome, lethal form"
BMGC_DS11858,BMG_DS040413,Arthrogryposis multiplex congenita whistling face | arthrogryposis multiplex congenita-whistling face syndrome
BMGC_DS11859,BMG_DS040414,Arthrogryposis multiplex congenita neurogenic type | neurogenic-type arthrogryposis multiplex congenita-2
BMGC_DS11860,BMG_DS040415,"Arthrogryposis, renal dysfunction, and cholestasis 1 | arthrogryposis, renal dysfunction, and cholestasis 1"
BMGC_DS11861,BMG_DS040418,"Arteriosclerosis, Severe Juvenile | arteriosclerosis, severe juvenile"
BMGC_DS11862,BMG_DS040419,ARTERIAL TORTUOSITY SYNDROME | arterial tortuosity syndrome
BMGC_DS11863,BMG_DS040420,Arterial calcification of infancy | arterial calcification of infancy
BMGC_DS11864,BMG_DS040421,"Coronary Sclerosis, Medial, of Infancy"
BMGC_DS11865,BMG_DS040422,"Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy | polyneuropathy-hand defect syndrome"
BMGC_DS11866,BMG_DS040423,Aplasia cutis congenita intestinal lymphangiectasia | aplasia cutis congenita-intestinal lymphangiectasia syndrome
BMGC_DS11867,BMG_DS040425,"Antithrombin, Familial Hemorrhagic Diathesis due to | antithrombin, familial hemorrhagic diathesis due to"
BMGC_DS11868,BMG_DS040426,anosmia for isobutyric acid
BMGC_DS11869,BMG_DS040428,"Microphthalmia, Syndromic 3 | anophthalmia/microphthalmia-esophageal atresia syndrome | syndromic microphthalmia 3"
BMGC_DS11870,BMG_DS040429,Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
BMGC_DS11871,BMG_DS040430,Aniridia renal agenesis psychomotor retardation | aniridia-renal agenesis-psychomotor retardation syndrome
BMGC_DS11872,BMG_DS040431,"Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert | angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert"
BMGC_DS11873,BMG_DS040432,"Angiolipomatosis, Familial | familial angiolipomatosis"
BMGC_DS11874,BMG_DS040433,"Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism | anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism"
BMGC_DS11875,BMG_DS040434,"Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane | anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane"
BMGC_DS11876,BMG_DS040436,Amyotrophic Lateral Sclerosis With Polyglucosan Bodies | amyotrophic lateral sclerosis with polyglucosan bodies
BMGC_DS11877,BMG_DS040437,"Amyotrophic Lateral Sclerosis, Juvenile, with Dementia | juvenile amyotrophic lateral sclerosis with dementia"
BMGC_DS11878,BMG_DS040438,"Amyotrophic Lateral Sclerosis 2, Juvenile | amyotrophic lateral sclerosis type 2, juvenile"
BMGC_DS11879,BMG_DS040439,"Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation | amyloidosis of gingiva and conjunctiva, with intellectual disability"
BMGC_DS11880,BMG_DS040440,"Amobarbital, Deficient N-Hydroxylation of | Amobarbital, deficient N-hydroxylation of"
BMGC_DS11881,BMG_DS040441,2-aminoadipic 2-oxoadipic aciduria | 2-aminoadipic 2-oxoadipic aciduria (disorder) | Alpha-aminoadipic aciduria
BMGC_DS11882,BMG_DS040442,"Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis | amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis"
BMGC_DS11883,BMG_DS040443,"Amaurosis congenita of Leber, type 2 | Leber congenital amaurosis 2"
BMGC_DS11884,BMG_DS040444,Alpha-2-Deficient Collagen Disease | obsolete alpha-2-deficient collagen disease
BMGC_DS11885,BMG_DS040445,alopecia universalis congenita
BMGC_DS11886,BMG_DS040446,Alopecia-Mental Retardation Syndrome 1 | alopecia-intellectual disability syndrome 1
BMGC_DS11887,BMG_DS040447,Microcephaly albinism digital anomalies syndrome | microcephaly-albinism-digital anomalies syndrome
BMGC_DS11888,BMG_DS040448,Coloboma of Alar-nasal cartilages with telecanthus | alar cartilages hypoplasia-coloboma-telecanthus syndrome
BMGC_DS11889,BMG_DS040450,"Neutropenia, Severe Congenital, Autosomal Dominant 1 | neutropenia, severe congenital, 1, autosomal dominant"
BMGC_DS11890,BMG_DS040452,agenesis of cerebral white matter
BMGC_DS11891,BMG_DS040453,"Hypodysfibrinogenemia, Congenital | familial hypodysfibrinogenemia"
BMGC_DS11892,BMG_DS040454,Adrenocortical Unresponsiveness To Acth With Postreceptor Defect | adrenocortical unresponsiveness to ACTH with postreceptor defect
BMGC_DS11893,BMG_DS040455,"adrenocortical carcinoma, hereditary"
BMGC_DS11894,BMG_DS040456,"Adrenal Hypoplasia, Cytomegalic Type | adrenal hypoplasia, cytomegalic type"
BMGC_DS11895,BMG_DS040457,"Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone | familial adrenal hypoplasia with absent pituitary luteinizing hormone"
BMGC_DS11896,BMG_DS040458,"Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency"
BMGC_DS11897,BMG_DS040459,Antley-Bixler Syndrome Phenotype | Antley-Bixler Syndrome with Disordered Steroidogenesis | congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
BMGC_DS11898,BMG_DS040460,Severe short-limb dwarfism
BMGC_DS11899,BMG_DS040461,Acrofrontofacionasal dysostosis syndrome | acrofrontofacionasal dysostosis
BMGC_DS11900,BMG_DS040462,Acrofacial dysostosis Rodriguez type | Acrofacial dysostosis Rodriguez type (disorder) | acrofacial dysostosis Rodriguez type
BMGC_DS11901,BMG_DS040464,Elejalde Disease | neuroectodermal melanolysosomal disease
BMGC_DS11902,BMG_DS040465,Acro-renal-mandibular syndrome | Acrorenal mandibular syndrome | Acrorenal mandibular syndrome (disorder) | Split hand and split foot with mandibular hypoplasia syndrome | acro-renal-mandibular syndrome
BMGC_DS11903,BMG_DS040466,Ackerman syndrome | Ackerman syndrome (disorder)
BMGC_DS11904,BMG_DS040467,Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency | short-limb skeletal dysplasia with severe combined immunodeficiency
BMGC_DS11905,BMG_DS040468,Achalasia microcephaly | achalasia microcephaly syndrome
BMGC_DS11906,BMG_DS040469,"Achalasia, familial esophageal | achalasia, familial esophageal"
BMGC_DS11907,BMG_DS040470,Acanthosis nigricans muscle cramps acral enlargement | acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
BMGC_DS11908,BMG_DS040471,ABLEPHARON-MACROSTOMIA SYNDROME | ablepharon macrostomia syndrome
BMGC_DS11909,BMG_DS040472,"zinc, elevated plasma"
BMGC_DS11910,BMG_DS040474,Woronets trait
BMGC_DS11911,BMG_DS040475,autosomal dominant wooly hair
BMGC_DS11912,BMG_DS040476,Wilms Tumor 3 | Wilms tumor 3
BMGC_DS11913,BMG_DS040477,"Whispering dysphonia, hereditary"
BMGC_DS11914,BMG_DS040478,"WAARDENBURG SYNDROME, TYPE IIA | Waardenburg syndrome type 2A"
BMGC_DS11915,BMG_DS040480,Ptosis and vocal cord paralysis syndrome | Ptosis and vocal cord paralysis syndrome (disorder) | Tucker syndrome | ptosis-vocal cord paralysis syndrome
BMGC_DS11916,BMG_DS040481,Snowflake vitreoretinal degeneration | snowflake vitreoretinal degeneration
BMGC_DS11917,BMG_DS040482,"congenital vertical talus, bilateral"
BMGC_DS11918,BMG_DS040483,Vertebral Hypoplasia With Lumbar Kyphosis | vertebral hypoplasia with lumbar kyphosis
BMGC_DS11919,BMG_DS040484,Vertebral fusion posterior lumbosacral blepharoptosis | posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
BMGC_DS11920,BMG_DS040485,"Venular Insufficiency, Systemic | venular insufficiency, systemic"
BMGC_DS11921,BMG_DS040486,Stoll Alembik Dott syndrome | ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
BMGC_DS11922,BMG_DS040488,"Vasculopathy, Retinal, With Cerebral Leukodystrophy | retinal vasculopathy with cerebral leukodystrophy | retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"
BMGC_DS11923,BMG_DS040489,"Vasculitis, Lymphocytic, Nodular | vasculitis, lymphocytic, nodular"
BMGC_DS11924,BMG_DS040492,"Urticaria, Familial Localized Heat | urticaria, familial localized heat"
BMGC_DS11925,BMG_DS040493,"Ureter, Bifid Or Double | ureter, bifid or double"
BMGC_DS11926,BMG_DS040495,Hip dysplasia with enchondromata and ecchondroma syndrome | Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) | Upington disease
BMGC_DS11927,BMG_DS040496,Undritz Anomaly | Undritz anomaly
BMGC_DS11928,BMG_DS040498,Rosenberg-Lohr syndrome | Ulna metaphyseal dysplasia syndrome | Ulna metaphyseal dysplasia syndrome (disorder) | ulna metaphyseal dysplasia syndrome
BMGC_DS11929,BMG_DS040500,Tune Deafness | tune deafness
BMGC_DS11930,BMG_DS040502,Tuberous Sclerosis 2 | tuberous sclerosis 2
BMGC_DS11931,BMG_DS040503,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 | hypertrophic cardiomyopathy 7"
BMGC_DS11932,BMG_DS040504,humerus trochlea aplasia
BMGC_DS11933,BMG_DS040505,Tristichiasis
BMGC_DS11934,BMG_DS040506,Transient Myeloproliferative Disorder of Down Syndrome
BMGC_DS11935,BMG_DS040507,Triphalangeal thumbs brachyectrodactyly | triphalangeal thumbs-brachyectrodactyly syndrome
BMGC_DS11936,BMG_DS040508,Say Field Coldwell syndrome | Say-field-Coldwell syndrome | Triphalangeal thumb and dislocation of patella syndrome | Triphalangeal thumb and dislocation of patella syndrome (disorder)
BMGC_DS11937,BMG_DS040509,Triphalangeal Thumb with Double Phalanges | triphalangeal thumb with double phalanges
BMGC_DS11938,BMG_DS040510,Triosephosphate Isomerase Deficiency | triosephosphate isomerase deficiency
BMGC_DS11939,BMG_DS040511,"Triglyceride Storage Disease, Type II | triglyceride storage disease, type 2"
BMGC_DS11940,BMG_DS040512,"Triglyceride Storage Disease, Type I | triglyceride storage disease, type 1"
BMGC_DS11941,BMG_DS040514,"Trichorhinophalangeal Syndrome, Type III | obsolete trichorhinophalangeal syndrome, type III"
BMGC_DS11942,BMG_DS040517,Familial multiple trichodiscomas | familial multiple discoid fibromas
BMGC_DS11943,BMG_DS040518,"Neuhauser Daly Magnelli syndrome | Tremor, nystagmus, duodenal ulcer syndrome | Tremor, nystagmus, duodenal ulcer syndrome (disorder) | tremor-nystagmus-duodenal ulcer syndrome"
BMGC_DS11944,BMG_DS040519,"TREMOR, HEREDITARY ESSENTIAL, 1 | essential tremor 1 | tremor, hereditary essential, 1"
BMGC_DS11945,BMG_DS040520,"Tremor of Intention, Ataxia, and Lipofuscinosis | tremor of intention, ataxia, and lipofuscinosis"
BMGC_DS11946,BMG_DS040521,"colorectal cancer, hereditary nonpolyposis, type 6"
BMGC_DS11947,BMG_DS040522,hereditary geniospasm
BMGC_DS11948,BMG_DS040523,NOONAN SYNDROME 3 | Noonan syndrome 3
BMGC_DS11949,BMG_DS040524,Esophageal atresia with or without tracheoesophageal fistula
BMGC_DS11950,BMG_DS040526,"toes, space between first and second"
BMGC_DS11951,BMG_DS040527,"toes, relative length of first and second"
BMGC_DS11952,BMG_DS040528,"toe, rotated fifth"
BMGC_DS11953,BMG_DS040529,"toe, misshapen"
BMGC_DS11954,BMG_DS040530,"toe, fifth, number of phalanges 1N"
BMGC_DS11955,BMG_DS040531,"tobacco addiction, susceptibility to"
BMGC_DS11956,BMG_DS040532,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 | hypertrophic cardiomyopathy 9"
BMGC_DS11957,BMG_DS040533,"Tibial Torsion, Bilateral Medial | tibial torsion, bilateral medial"
BMGC_DS11958,BMG_DS040534,"Tibia, Hypoplasia of, with Polydactyly | tibia, hypoplasia or aplasia of, with polydactyly"
BMGC_DS11959,BMG_DS040535,Absence of tibia with polydactyly | hypoplastic or aplastic tibia with polydactyly
BMGC_DS11960,BMG_DS040536,THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT | thyroid hormone plasma membrane transport defect
BMGC_DS11961,BMG_DS040537,"Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency | Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | Resistance to thyrotropin-releasing hormone syndrome | TRH (thyrotropin-releasing hormone) resistance syndrome | hypothyroidism, congenital, nongoitrous, 7"
BMGC_DS11962,BMG_DS040541,"Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay | thumb stiffness-brachydactyly-intellectual disability syndrome"
BMGC_DS11963,BMG_DS040542,Thumb Deformity And Alopecia | thumb deformity-alopecia-pigmentation anomaly syndrome
BMGC_DS11964,BMG_DS040543,Thrombophilia due to Activated Protein C Resistance | thrombophilia due to activated protein C resistance
BMGC_DS11965,BMG_DS040544,Venous Thromboembolism | venous thromboembolism
BMGC_DS11966,BMG_DS040545,Thrombocytopenia 2 | thrombocytopenia 2
BMGC_DS11967,BMG_DS040546,"Thrombasthenia-Thrombocytopenia, Hereditary | platelet-type bleeding disorder 17"
BMGC_DS11968,BMG_DS040547,"Glanzmann Thrombasthenia, Autosomal Dominant"
BMGC_DS11969,BMG_DS040549,Barnes syndrome | Thoracolaryngopelvic dysplasia | Thoracolaryngopelvic dysplasia syndrome | Thoracolaryngopelvic dysplasia syndrome (disorder) | thoracolaryngopelvic dysplasia
BMGC_DS11970,BMG_DS040550,"Thoracic Dysostosis, Isolated | thoracic dysostosis, isolated"
BMGC_DS11971,BMG_DS040552,"Thalassemia, Beta+, Silent Allele | thalassemia, beta+, silent allele"
BMGC_DS11972,BMG_DS040553,tetramelic monodactyly
BMGC_DS11973,BMG_DS040554,Tetralogy of fallot and glaucoma | tetralogy of fallot and glaucoma
BMGC_DS11974,BMG_DS040555,Forebrain Defects
BMGC_DS11975,BMG_DS040556,extensor tendons of finger anomalies
BMGC_DS11976,BMG_DS040557,"ARTHROGRYPOSIS, DISTAL, TYPE 10 | distal arthrogryposis type 10"
BMGC_DS11977,BMG_DS040559,"Teeth, Odd Shapes Of | teeth, odd shapes of"
BMGC_DS11978,BMG_DS040565,talonavicular coalition
BMGC_DS11979,BMG_DS040566,Immunodeficiency due to Defect in CD3-Gamma
BMGC_DS11980,BMG_DS040568,"syringomas, multiple"
BMGC_DS11981,BMG_DS040569,"Arthrocutaneouveal granulamotosis | Familial granulomatosis, Blau type | Familial granulomatous inflammatory arthritis, dermatitis and uveitis | Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) | Familial juvenile systemic granulomatosis | Granulomatous inflammatory arthritis, dermatitis and uveitis, familial | Paediatric granulomatous arthritis | Pediatric granulomatous arthritis"
BMGC_DS11982,BMG_DS040570,"Synovial Chondromatosis, Familial, with Dwarfism | synovial chondromatosis, familial, with dwarfism"
BMGC_DS11983,BMG_DS040571,TARSAL-CARPAL COALITION SYNDROME | tarsal-carpal coalition syndrome
BMGC_DS11984,BMG_DS040573,"Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly | brachydactyly-elbow wrist dysplasia syndrome"
BMGC_DS11985,BMG_DS040575,Syndactyly-Polydactyly-Earlobe Syndrome | syndactyly-polydactyly-ear lobe syndrome
BMGC_DS11986,BMG_DS040576,syndactyly type 5
BMGC_DS11987,BMG_DS040577,"Syndactyly, Type IV | syndactyly type 4"
BMGC_DS11988,BMG_DS040578,"SYNDACTYLY, TYPE III | syndactyly type 3"
BMGC_DS11989,BMG_DS040580,"Syndactyly, Type I | syndactyly type 1"
BMGC_DS11990,BMG_DS040581,proximal symphalangism
BMGC_DS11991,BMG_DS040583,distal symphalangism
BMGC_DS11992,BMG_DS040584,"Symphalangism, C. S. Lewis Type | symphalangism, C. S. Lewis type"
BMGC_DS11993,BMG_DS040586,Symphalangism of Toes | symphalangism of toes
BMGC_DS11994,BMG_DS040588,"Sulfhemoglobinemia, Congenital | sulfhemoglobinemia, congenital"
BMGC_DS11995,BMG_DS040590,"Striae Distensae, Familial | striae distensae, familial"
BMGC_DS11996,BMG_DS040592,"strabismus, susceptibility to"
BMGC_DS11997,BMG_DS040594,Stormorken Syndrome | Stormorken syndrome
BMGC_DS11998,BMG_DS040596,Pseudohyperkalemia Cardiff | cryohydrocytosis
BMGC_DS11999,BMG_DS040598,overhydrated hereditary stomatocytosis
BMGC_DS12000,BMG_DS040599,Stiff Skin Syndrome | stiff skin syndrome
BMGC_DS12001,BMG_DS040600,PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY | progressive encephalomyelitis with rigidity and myoclonus
BMGC_DS12002,BMG_DS040601,"Stickler syndrome, type 3"
BMGC_DS12003,BMG_DS040603,COLCHICINE RESISTANCE
BMGC_DS12004,BMG_DS040604,Cochleosaccular degeneration of the inner ear and progressive cataracts | cochleosaccular degeneration-cataract syndrome
BMGC_DS12005,BMG_DS040605,"Cluster Headache, Familial | cluster headache, familial"
BMGC_DS12006,BMG_DS040606,Cleidorhizomelic syndrome | Cleidorhizomelic syndrome (disorder) | Rhizomelic shortness with clavicular defect | Wallis Zieff Goldblatt syndrome | cleidorhizomelic syndrome
BMGC_DS12007,BMG_DS040608,Blepharo-cheilo-dontic syndrome | blepharocheilodontic syndrome
BMGC_DS12008,BMG_DS040609,OROFACIAL CLEFT 1 | orofacial cleft 1
BMGC_DS12009,BMG_DS040610,Split-Hand-Foot Malformation With Long Bone Deficiency 1 | split-hand/foot malformation with long bone deficiency 1
BMGC_DS12010,BMG_DS040611,"Cirrhosis, Familial | cirrhosis, familial"
BMGC_DS12011,BMG_DS040614,"Chylomicronemia, Familial, due to Circulating Inhibitor of Lipoprotein Lipase | chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase"
BMGC_DS12012,BMG_DS040615,"Choreoathetosis, Familial Inverted | choreoathetosis, familial inverted"
BMGC_DS12013,BMG_DS040622,Charcot-Marie-Tooth disease and deafness | Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
BMGC_DS12014,BMG_DS040624,"Charcot-Marie-Tooth Disease, Axonal, Type 2a1 | Charcot-Marie-Tooth disease type 2A1"
BMGC_DS12015,BMG_DS040625,"Klippel-Feil syndrome 1, autosomal dominant"
BMGC_DS12016,BMG_DS040626,Cervical Vertebral Dysplasia | cervical vertebral dysplasia
BMGC_DS12017,BMG_DS040627,cervical vertebral Bridge
BMGC_DS12018,BMG_DS040628,Cervical Hypertrichosis with Underlying Kyphoscoliosis | cervical hypertrichosis with underlying kyphoscoliosis
BMGC_DS12019,BMG_DS040629,"EAR WAX, WET/DRY"
BMGC_DS12020,BMG_DS040631,Spinocerebellar Ataxia 29 | spinocerebellar ataxia type 29
BMGC_DS12021,BMG_DS040632,"ADan amyloidosis | Dementia, familial Danish"
BMGC_DS12022,BMG_DS040633,Spinocerebellar Ataxia 31 | spinocerebellar ataxia type 31
BMGC_DS12023,BMG_DS040637,"Multiminicore Disease, Moderate, with Hand Involvement | moderate multiminicore disease with hand involvement"
BMGC_DS12024,BMG_DS040638,Median Arcuate Ligament Syndrome | celiac artery stenosis from compression by median arcuate ligament of diaphragm | median arcuate ligament syndrome
BMGC_DS12025,BMG_DS040639,Cavernous Malformations of CNS and Retina
BMGC_DS12026,BMG_DS040640,Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations
BMGC_DS12027,BMG_DS040642,"CATARACT, MARNER TYPE"
BMGC_DS12028,BMG_DS040643,"CATARACT, POSTERIOR POLAR, 1 | cataract 6 multiple types"
BMGC_DS12029,BMG_DS040645,"Cataract, Nuclear Diffuse Nonprogressive"
BMGC_DS12030,BMG_DS040646,"Cataract, Zonular Pulverulent 1 | cataract 1 multiple types"
BMGC_DS12031,BMG_DS040647,Cataract microcornea syndrome | cataract - microcornea syndrome
BMGC_DS12032,BMG_DS040650,"CATARACT, CONGENITAL, VOLKMANN TYPE | cataract 8 multiple types"
BMGC_DS12033,BMG_DS040652,carpal displacement
BMGC_DS12034,BMG_DS040653,PARAGANGLIOMAS 4 | paragangliomas 4
BMGC_DS12035,BMG_DS040655,"Cardiomyopathy, Familial Restrictive, 1 | cardiomyopathy, familial restrictive, 1"
BMGC_DS12036,BMG_DS040656,hypertrophic cardiomyopathy 4
BMGC_DS12037,BMG_DS040657,"Cardiomyopathy, Familial Hypertrophic, 3 | hypertrophic cardiomyopathy 3"
BMGC_DS12038,BMG_DS040658,"Cardiomyopathy, Familial Hypertrophic, 2 | hypertrophic cardiomyopathy 2"
BMGC_DS12039,BMG_DS040659,Familial Sudden Death
BMGC_DS12040,BMG_DS040660,Monocyte Esterase Deficiency
BMGC_DS12041,BMG_DS040662,Carabelli Anomaly of Maxillary Molar Teeth | Carabelli anomaly of maxillary molar teeth
BMGC_DS12042,BMG_DS040663,Car Factor Deficiency | Car factor deficiency
BMGC_DS12043,BMG_DS040664,"CANINE TEETH, ABSENCE OF UPPER PERMANENT | canine teeth, absence of upper permanent"
BMGC_DS12044,BMG_DS040665,"cancer, familial, with in vitro Radioresistance"
BMGC_DS12045,BMG_DS040666,CAMPOMELIC DYSPLASIA | campomelic dysplasia
BMGC_DS12046,BMG_DS040667,Acampomelic Campomelic Dysplasia | Campomelic Dysplasia | campomelic dysplasia
BMGC_DS12047,BMG_DS040668,camptobrachydactyly
BMGC_DS12048,BMG_DS040669,"Callosities, Hereditary Painful | hereditary painful callosities"
BMGC_DS12049,BMG_DS040670,"Idiopathic basal ganglia calcification, childhood onset | basal ganglia calcification, idiopathic, childhood-onset"
BMGC_DS12050,BMG_DS040671,"Calcific Aortic Disease with Immunologic Abnormalities, Familial | calcific aortic disease with immunologic abnormalities, familial"
BMGC_DS12051,BMG_DS040672,"Cafe au lait spots, multiple | cafe au lait spots, multiple"
BMGC_DS12052,BMG_DS040675,"Heart Block, Nonprogressive"
BMGC_DS12053,BMG_DS040676,"Cardiac Conduction Defect, Nonprogressive"
BMGC_DS12054,BMG_DS040681,Brachymorphism-onychodysplasia-dysphalangism syndrome
BMGC_DS12055,BMG_DS040685,Brachydactyly-Nystagmus-Cerebellar Ataxia | brachydactyly-nystagmus-cerebellar ataxia syndrome
BMGC_DS12056,BMG_DS040686,Fibular aplasia ectrodactyly | fibular aplasia-ectrodactyly syndrome
BMGC_DS12057,BMG_DS040687,"Brachydactyly, Type E, with Atrial Septal Defect, Type II | brachydactyly, type E, with atrial septal defect, type 2"
BMGC_DS12058,BMG_DS040688,brachydactyly type E1
BMGC_DS12059,BMG_DS040689,brachydactyly type C
BMGC_DS12060,BMG_DS040690,brachydactyly type B1
BMGC_DS12061,BMG_DS040691,Brachydactyly type A6 | Brachydactyly type A6 (disorder) | Osebold Remondini syndrome | Osebold-Remondini syndrome | brachydactyly type A6
BMGC_DS12062,BMG_DS040693,brachydactyly type A4
BMGC_DS12063,BMG_DS040694,brachydactyly type A3
BMGC_DS12064,BMG_DS040695,Brachydactyly Farabee type | Brachydactyly type A1 | Brachydactyly type A1 (disorder) | brachydactyly type A1
BMGC_DS12065,BMG_DS040696,Brachydactyly preaxial with hallux varus and thumb abduction | brachydactyly-preaxial hallux varus syndrome
BMGC_DS12066,BMG_DS040699,Brachydactyly with hypertension | brachydactyly-arterial hypertension syndrome | hypertension and brachydactyly syndrome
BMGC_DS12067,BMG_DS040700,"Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay | Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay"
BMGC_DS12068,BMG_DS040701,Anterior bowing of legs with dwarfism | Weismann Netter syndrome | Weismann Netter syndrome (disorder) | Weismann-Netter syndrome
BMGC_DS12069,BMG_DS040702,"bone pain, periodic"
BMGC_DS12070,BMG_DS040703,Diaphyseal medullary stenosis with malignant fibrous histiocytoma | diaphyseal medullary stenosis with malignant fibrous histiocytoma | diaphyseal medullary stenosis-bone malignancy syndrome
BMGC_DS12071,BMG_DS040704,"Bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome | Cole Carpenter syndrome | Cole-Carpenter dysplasia | Cole-Carpenter dysplasia (disorder) | Cole-Carpenter syndrome"
BMGC_DS12072,BMG_DS040708,Blepharoptosis myopia ectopia lentis | blepharoptosis-myopia-ectopia lentis syndrome
BMGC_DS12073,BMG_DS040709,Bpes With Ovarian Failure
BMGC_DS12074,BMG_DS040710,Bpes Without Ovarian Failure
BMGC_DS12075,BMG_DS040711,Bpes With Duane Retraction Syndrome
BMGC_DS12076,BMG_DS040712,"Blepharochalasis, Superior | blepharochalasis, superior"
BMGC_DS12077,BMG_DS040714,"Basilar Impression, Primary | primary basilar invagination"
BMGC_DS12078,BMG_DS040718,"Ovalocytosis, Malaysian-Melanesian-Filipino Type | southeast Asian ovalocytosis"
BMGC_DS12079,BMG_DS040721,Axial osteomalacia | axial osteomalacia
BMGC_DS12080,BMG_DS040722,"Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities | Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities"
BMGC_DS12081,BMG_DS040723,Aurocephalosyndactyly | aurocephalosyndactyly
BMGC_DS12082,BMG_DS040724,Auriculoosteodysplasia | auriculoosteodysplasia
BMGC_DS12083,BMG_DS040725,SVEINSSON CHORIORETINAL ATROPHY | Sveinsson chorioretinal atrophy | helicoid peripapillary chorioretinal degeneration
BMGC_DS12084,BMG_DS040726,Atrial Tachyarrhythmia with Short PR Interval | Lown-Ganong-Levine syndrome
BMGC_DS12085,BMG_DS040727,atrial septal defect 1
BMGC_DS12086,BMG_DS040728,"Atrial Fibrillation, Familial, 4 | atrial fibrillation, familial, 4"
BMGC_DS12087,BMG_DS040729,Ataxia with Fasciculations | ataxia with fasciculations
BMGC_DS12088,BMG_DS040730,"Ataxia, Spastic, with Congenital Miosis | spastic ataxia 7"
BMGC_DS12089,BMG_DS040732,spermatogenic failure 2
BMGC_DS12090,BMG_DS040735,Arthrogryposis-like hand anomaly and sensorineural deafness | arthrogryposis-like hand anomaly-sensorineural deafness syndrome | distal arthrogryposis type 6
BMGC_DS12091,BMG_DS040736,Arthrogryposis with oculomotor limitation and electroretinal anomaly | Distal arthrogryposis type 5 | Distal arthrogryposis type 5 (disorder) | Distal arthrogryposis with ophthalmoplegia | Oculomelic amyoplasia | arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | distal arthrogryposis type 5
BMGC_DS12092,BMG_DS040738,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 | arrhythmogenic right ventricular dysplasia 1"
BMGC_DS12093,BMG_DS040740,"arms, malformation of"
BMGC_DS12094,BMG_DS040748,"coronary artery disease, severe, susceptibility to"
BMGC_DS12095,BMG_DS040749,Familial hypobetalipoproteinaemia | Familial hypobetalipoproteinemia | Familial hypobetalipoproteinemia (disorder)
BMGC_DS12096,BMG_DS040750,"appendicitis, proneness to"
BMGC_DS12097,BMG_DS040751,"Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma | aortic arch interruption, facial palsy, and retinal coloboma"
BMGC_DS12098,BMG_DS040752,Aortic arch anomaly with peculiar facies and mental retardation | aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
BMGC_DS12099,BMG_DS040753,Townes-Brocks-Branchiootorenal-Like Syndrome
BMGC_DS12100,BMG_DS040754,anterior segment dysgenesis
BMGC_DS12101,BMG_DS040756,Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges | Cooks syndrome
BMGC_DS12102,BMG_DS040758,Anonychia-Ectrodactyly | anonychia-ectrodactyly
BMGC_DS12103,BMG_DS040759,Anonychia with Flexural Pigmentation | anonychia with flexural pigmentation
BMGC_DS12104,BMG_DS040760,"spondyloarthropathy, susceptibility to, 1"
BMGC_DS12105,BMG_DS040761,ankyloblepharon filiforme adnatum-cleft palate syndrome
BMGC_DS12106,BMG_DS040762,"Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract | aniridia, microcornea, and spontaneously Reabsorbed cataract"
BMGC_DS12107,BMG_DS040763,Aniridia and Absent Patella | aniridia-absent patella syndrome
BMGC_DS12108,BMG_DS040764,Hereditary Angioedema Type II | Hereditary Angioedema Types I and II
BMGC_DS12109,BMG_DS040767,"Aneurysm, Intracranial Berry, 1 | aneurysm, intracranial berry type 1"
BMGC_DS12110,BMG_DS040771,AMYOTROPHIC LATERAL SCLEROSIS 1 | amyotrophic lateral sclerosis type 1
BMGC_DS12111,BMG_DS040773,"Amyotrophic Lateral Sclerosis, Sporadic | sporadic amyotrophic lateral sclerosis"
BMGC_DS12112,BMG_DS040774,Amyotrophic Dystonic Paraplegia | amyotrophic dystonic paraplegia
BMGC_DS12113,BMG_DS040776,"Amelogenesis Imperfecta, Type IV | hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"
BMGC_DS12114,BMG_DS040777,Amelia and Terminal Transverse Hemimelia | amelia and terminal transverse hemimelia
BMGC_DS12115,BMG_DS040778,"Amastia, Bilateral, With Ureteral Triplication And Dysmorphism | amastia, bilateral, with ureteral triplication and dysmorphism"
BMGC_DS12116,BMG_DS040779,ALZHEIMER DISEASE 2 | Alzheimer disease 2
BMGC_DS12117,BMG_DS040780,"ALZHEIMER DISEASE, FAMILIAL, 1 | Alzheimer disease type 1 | Alzheimer's disease 1"
BMGC_DS12118,BMG_DS040782,alpha-Fetoprotein Deficiency | obsolete congenital deficiency in alpha-fetoprotein
BMGC_DS12119,BMG_DS040784,"Alopecia, Familial Focal | familial focal alopecia"
BMGC_DS12120,BMG_DS040785,Alopecia congenita keratosis palmoplantaris | alopecia congenita keratosis palmoplantaris | palmoplantar keratoderma and congenital alopecia 1
BMGC_DS12121,BMG_DS040786,ALOPECIA AREATA 1 | alopecia areata 1
BMGC_DS12122,BMG_DS040787,Dysalbuminemic Hyperthyroxinemia
BMGC_DS12123,BMG_DS040789,Hypoglossia-Hypodactylia | Hypoglossia-hypodactyly syndrome
BMGC_DS12124,BMG_DS040790,ADULT SYNDROME | ADULT syndrome
BMGC_DS12125,BMG_DS040791,"Adenosine Triphosphate, Elevated, Of Erythrocytes | pyruvate kinase hyperactivity"
BMGC_DS12126,BMG_DS040793,"Adenosine Deaminase, Elevated, Hemolytic Anemia Due To | hemolytic anemia due to erythrocyte adenosine deaminase overproduction"
BMGC_DS12127,BMG_DS040794,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"
BMGC_DS12128,BMG_DS040795,Partial adenosine deaminase deficiency
BMGC_DS12129,BMG_DS040796,"Acropectorovertebral Dysplasia, F-Form | Acropectorovertebral dysplasia"
BMGC_DS12130,BMG_DS040797,"Acroleukopathy, Symmetric | acroleukopathy, symmetric"
BMGC_DS12131,BMG_DS040798,"Acrokeratoderma, Hereditary Papulotranslucent | hereditary papulotranslucent acrokeratoderma"
BMGC_DS12132,BMG_DS040799,Saethre-Chotzen Syndrome with Eyelid Anomalies
BMGC_DS12133,BMG_DS040800,Acrocephalosyndactylia | Apert-Crouzon Disease
BMGC_DS12134,BMG_DS040802,Achoo syndrome | Autosomal dominant compelling helio ophthalmic outburst syndrome
BMGC_DS12135,BMG_DS040803,"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | hypercholesterolemia, familial, 4"
BMGC_DS12136,BMG_DS040807,Stargardt disease 4
BMGC_DS12137,BMG_DS040808,"HYPERCHOLESTEROLEMIA, FAMILIAL, 3 | hypercholesterolemia, autosomal dominant, 3"
BMGC_DS12138,BMG_DS040810,"Ohdo syndrome,  SBBYS variant | Young Simpson syndrome | blepharophimosis - intellectual disability syndrome, SBBYS type"
BMGC_DS12139,BMG_DS040811,"Deafness, Autosomal Recessive 16 | autosomal recessive nonsyndromic hearing loss 16"
BMGC_DS12140,BMG_DS040813,"Hereditary Myopathy with Early Respiratory Failure | myopathy, myofibrillar, 9, with early respiratory failure"
BMGC_DS12141,BMG_DS040814,prostate cancer/brain cancer susceptibility
BMGC_DS12142,BMG_DS040815,"DEAFNESS, AUTOSOMAL RECESSIVE 14 | autosomal recessive nonsyndromic hearing loss 14"
BMGC_DS12143,BMG_DS040816,ACROMELIC FRONTONASAL DYSOSTOSIS | acromelic frontonasal dysostosis
BMGC_DS12144,BMG_DS040822,Cone-Rod Dystrophy 7 | cone-rod dystrophy 7
BMGC_DS12145,BMG_DS040826,"Deafness, Autosomal Recessive 21 | autosomal recessive nonsyndromic hearing loss 21"
BMGC_DS12146,BMG_DS040827,"DEAFNESS, AUTOSOMAL DOMINANT 17 | autosomal dominant nonsyndromic hearing loss 17"
BMGC_DS12147,BMG_DS040829,Craniosynostosis with Ectopia Lentis | craniosynostosis with ectopia lentis
BMGC_DS12148,BMG_DS040830,"Xanthinuria, Type II | xanthinuria type II"
BMGC_DS12149,BMG_DS040834,"Spastic paraplegia 8, autosomal dominant | hereditary spastic paraplegia 8"
BMGC_DS12150,BMG_DS040835,"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | familial hemophagocytic lymphohistiocytosis 2"
BMGC_DS12151,BMG_DS040836,"Hemophagocytic lymphohistiocytosis, familial, 4 | familial hemophagocytic lymphohistiocytosis 4"
BMGC_DS12152,BMG_DS040837,Spondyloepimetaphyseal dysplasia with joint laxity Hall type | Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type | Spondyloepimetaphyseal dysplasia with joint laxity type 2 | Spondyloepimetaphyseal dysplasia with multiple dislocations | Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) | Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type | spondyloepimetaphyseal dysplasia with multiple dislocations
BMGC_DS12153,BMG_DS040838,enlarged vestibular aqueduct syndrome
BMGC_DS12154,BMG_DS040839,LIMB-MAMMARY SYNDROME | limb-mammary syndrome
BMGC_DS12155,BMG_DS040842,"Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema"
BMGC_DS12156,BMG_DS040843,Neuronal intranuclear inclusion disease | Neuronal intranuclear inclusion disease (disorder) | neuronal intranuclear inclusion disease
BMGC_DS12157,BMG_DS040844,Adult-onset citrullinemia type 2 | citrullinemia type II
BMGC_DS12158,BMG_DS040846,Coloboma of superior eyelid | Coloboma of superior eyelid (disorder) | Coloboma of upper eyelid | Superior palpebral coloboma | coloboma of superior eyelid
BMGC_DS12159,BMG_DS040847,"Arhinia, choanal atresia, and microphthalmia | arhinia, choanal atresia, and microphthalmia"
BMGC_DS12160,BMG_DS040850,radioulnar synostosis-microcephaly-scoliosis syndrome
BMGC_DS12161,BMG_DS040857,Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
BMGC_DS12162,BMG_DS040859,"Glaucoma 1, Open Angle, F | obsolete glaucoma 1, open angle, F"
BMGC_DS12163,BMG_DS040860,"long chain fatty acids, defect in transport of"
BMGC_DS12164,BMG_DS040861,"Hyperthyroidism, Familial Gestational | familial gestational hyperthyroidism"
BMGC_DS12165,BMG_DS040864,"Fellman syndrome | Finnish lactic acidosis with hepatic hemosiderosis | Finnish lethal neonatal metabolic syndrome | GRACILE syndrome | Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death | Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder)"
BMGC_DS12166,BMG_DS040865,SCHIZOPHRENIA 2 | schizophrenia 2
BMGC_DS12167,BMG_DS040867,Cerebral Cavernous Malformations 3 | cerebral cavernous malformation 3
BMGC_DS12168,BMG_DS040868,CEREBRAL CAVERNOUS MALFORMATIONS 2 | cerebral cavernous malformation 2
BMGC_DS12169,BMG_DS040869,"DIABETES MELLITUS, INSULIN-DEPENDENT, 17 | type 1 diabetes mellitus 17"
BMGC_DS12170,BMG_DS040870,"PSEUDOHYPOPARATHYROIDISM, TYPE IB | pseudohypoparathyroidism type 1B"
BMGC_DS12171,BMG_DS040871,"Myopia 3 | myopia 3, autosomal dominant"
BMGC_DS12172,BMG_DS040872,HUNTINGTON DISEASE-LIKE 1 | Huntington disease-like 1
BMGC_DS12173,BMG_DS040874,"Epilepsy, Nocturnal Frontal Lobe, Type 2 | autosomal dominant nocturnal frontal lobe epilepsy 2"
BMGC_DS12174,BMG_DS040875,"MECKEL SYNDROME, TYPE 2 | Meckel syndrome, type 2"
BMGC_DS12175,BMG_DS040878,"Dermatitis, Atopic, 1"
BMGC_DS12176,BMG_DS040884,CDAGS SYNDROME | craniosynostosis-anal anomalies-porokeratosis syndrome
BMGC_DS12177,BMG_DS040885,"DEAFNESS, AUTOSOMAL RECESSIVE 13 | autosomal recessive nonsyndromic hearing loss 13"
BMGC_DS12178,BMG_DS040886,"Macular Degeneration, Age-Related, 1 | age related macular degeneration 1"
BMGC_DS12179,BMG_DS040888,Endplate Acetylcholinesterase Deficiency | congenital myasthenic syndrome 5
BMGC_DS12180,BMG_DS040890,SCHIZOPHRENIA 6 | schizophrenia 6
BMGC_DS12181,BMG_DS040891,"Deafness, Autosomal Recessive 17 | autosomal recessive nonsyndromic hearing loss 17"
BMGC_DS12182,BMG_DS040893,"ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE | acromesomelic dysplasia 1, Maroteaux type"
BMGC_DS12183,BMG_DS040894,PREMATURE CHROMATID SEPARATION TRAIT | premature chromatid separation trait
BMGC_DS12184,BMG_DS040895,"Peroxisome Biogenesis Disorder, Complementation Group 7"
BMGC_DS12185,BMG_DS040896,Muenke Syndrome | Muenke syndrome
BMGC_DS12186,BMG_DS040897,H syndrome | Histiocytosis with joint contractures and sensorineural deafness
BMGC_DS12187,BMG_DS040898,Retinitis Pigmentosa 25 | retinitis pigmentosa 25
BMGC_DS12188,BMG_DS040900,PSORIASIS 2 | psoriasis 2
BMGC_DS12189,BMG_DS040901,autosomal recessive distal renal tubular acidosis
BMGC_DS12190,BMG_DS040904,"Cataract, posterior polar, 4 | cataract 11 multiple types"
BMGC_DS12191,BMG_DS040905,RETINITIS PIGMENTOSA 36 | retinitis pigmentosa 36
BMGC_DS12192,BMG_DS040906,"Diabetes Mellitus, Transient Neonatal, 3 | diabetes mellitus, transient neonatal, 3"
BMGC_DS12193,BMG_DS040907,"CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"
BMGC_DS12194,BMG_DS040909,"GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | Gaucher disease due to saposin C deficiency"
BMGC_DS12195,BMG_DS040910,"Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | mandibulofacial dysostosis-microcephaly syndrome"
BMGC_DS12196,BMG_DS040911,"Glaucoma 1, Open Angle, M | glaucoma 1, open angle, M"
BMGC_DS12197,BMG_DS040912,hypomyelinating leukodystrophy 5
BMGC_DS12198,BMG_DS040913,"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4"
BMGC_DS12199,BMG_DS040914,NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY | neuronal ceroid lipofuscinosis 10
BMGC_DS12200,BMG_DS040915,"Neuronal Ceroid Lipofuscinosis, Congenital | congenital neuronal ceroid lipofuscinosis"
BMGC_DS12201,BMG_DS040916,"Microphthalmia, Syndromic 6 | microphthalmia with brain and digit anomalies | syndromic microphthalmia 6"
BMGC_DS12202,BMG_DS040917,"Microphthalmia, Syndromic 5 | syndromic microphthalmia 5 | syndromic microphthalmia type 5"
BMGC_DS12203,BMG_DS040918,Complement Component 7 Deficiency | complement component 7 deficiency
BMGC_DS12204,BMG_DS040919,"Giant Axonal Neuropathy, Autosomal Dominant | giant axonal neuropathy 2"
BMGC_DS12205,BMG_DS040920,"Finnish upper limb-onset distal myopathy | Myopathy, Distal 3"
BMGC_DS12206,BMG_DS040921,"MICROPHTHALMIA, ISOLATED 2 | isolated microphthalmia 2"
BMGC_DS12207,BMG_DS040922,"Microphthalmia, Isolated, with Coloboma 3 | microphthalmia, isolated, with coloboma 3"
BMGC_DS12208,BMG_DS040923,"Microphthalmia, Cataracts, and Iris Abnormalities"
BMGC_DS12209,BMG_DS040924,Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency | pyridoxal phosphate-responsive seizures | pyridoxamine 5'-phosphate oxidase deficiency
BMGC_DS12210,BMG_DS040926,"Polyposis Syndrome, Hereditary Mixed, 2 | polyposis syndrome, hereditary mixed, 2"
BMGC_DS12211,BMG_DS040929,"opioid dependence, susceptibility to, 1"
BMGC_DS12212,BMG_DS040930,"Corneal Dystrophy, Congenital Stromal | congenital stromal corneal dystrophy"
BMGC_DS12213,BMG_DS040931,"Deafness, Autosomal Recessive 53 | autosomal recessive nonsyndromic hearing loss 53"
BMGC_DS12214,BMG_DS040935,Short Stature And Facioauriculothoracic Malformations | short stature and Facioauriculothoracic malformations
BMGC_DS12215,BMG_DS040936,TRICHILEMMAL CYST 1
BMGC_DS12216,BMG_DS040937,"Deafness, Autosomal Recessive 46 | autosomal recessive nonsyndromic hearing loss 46"
BMGC_DS12217,BMG_DS040938,"Deafness, Autosomal Recessive 42 | autosomal recessive nonsyndromic hearing loss 42"
BMGC_DS12218,BMG_DS040940,Frias syndrome
BMGC_DS12219,BMG_DS040941,"Epidermolysis bullosa, lethal acantholytic | lethal acantholytic epidermolysis bullosa"
BMGC_DS12220,BMG_DS040942,HOLOPROSENCEPHALY 5 | holoprosencephaly 5
BMGC_DS12221,BMG_DS040943,ALZHEIMER DISEASE 10 | Alzheimer disease 10
BMGC_DS12222,BMG_DS040944,maturity-onset diabetes of the young type 7
BMGC_DS12223,BMG_DS040945,Combined Oxidative Phosphorylation Deficiency 3 | combined oxidative phosphorylation deficiency 3 | fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
BMGC_DS12224,BMG_DS040946,Combined Oxidative Phosphorylation Deficiency 2 | combined oxidative phosphorylation defect type 2 | combined oxidative phosphorylation deficiency 2
BMGC_DS12225,BMG_DS040947,"Pigmented Nodular Adrenocortical Disease, Primary, 1 | pigmented nodular adrenocortical disease, primary, 1 | primary pigmented nodular adrenocortical disease 1"
BMGC_DS12226,BMG_DS040949,RETINAL CONE DYSTROPHY 4 | retinal cone dystrophy 4
BMGC_DS12227,BMG_DS040950,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 | arrhythmogenic right ventricular dysplasia 11"
BMGC_DS12228,BMG_DS040951,"Pigmented Nodular Adrenocortical Disease, Primary, 2 | pigmented nodular adrenocortical disease, primary, 2 | primary pigmented nodular adrenocortical disease 2"
BMGC_DS12229,BMG_DS040952,CATSHL syndrome | camptodactyly-tall stature-scoliosis-hearing loss syndrome
BMGC_DS12230,BMG_DS040953,"Tumoral Calcinosis, Normophosphatemic, Familial | normophosphatemic familial tumoral calcinosis"
BMGC_DS12231,BMG_DS040954,"Buruli ulcer, susceptibility to"
BMGC_DS12232,BMG_DS040955,"Night Blindness, Congenital Stationary, Autosomal Dominant 1 | congenital stationary night blindness autosomal dominant 1"
BMGC_DS12233,BMG_DS040956,"Night Blindness, Congenital Stationary, Autosomal Dominant 3 | congenital stationary night blindness autosomal dominant 3"
BMGC_DS12234,BMG_DS040957,Chromosome 17q21.31 Deletion Syndrome | Koolen-de Vries syndrome | Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome
BMGC_DS12235,BMG_DS040958,"Spondyloepimetaphyseal dysplasia, Genevieve type | spondyloepimetaphyseal dysplasia, Genevieve type | spondyloepimetaphyseal dysplasia, Genevieve-type"
BMGC_DS12236,BMG_DS040959,Testicular Microlithiasis | testicular microlithiasis
BMGC_DS12237,BMG_DS040963,"Night Blindness, Congenital Stationary, Type 2B"
BMGC_DS12238,BMG_DS040966,"hepatitis B virus, susceptibility to"
BMGC_DS12239,BMG_DS040967,Retinal Cone Dystrophy 3A | retinal cone dystrophy 3A
BMGC_DS12240,BMG_DS040968,"Brachydactyly, Coloboma, And Anterior Segment Dysgenesis | brachydactyly, coloboma, and anterior segment dysgenesis"
BMGC_DS12241,BMG_DS040969,"Hyperinsulinemic hypoglycemia, familial, 7 | exercise-induced hyperinsulinism | familial hyperinsulinemic hypoglycemia 7"
BMGC_DS12242,BMG_DS040970,Hyperinsulinemic hypoglycemia | hyperinsulinemic hypoglycemia
BMGC_DS12243,BMG_DS040971,"Cataract, autosomal recessive congenital 2 | cataract 18"
BMGC_DS12244,BMG_DS040972,"Glutamine deficiency, congenital | congenital brain dysgenesis due to glutamine synthetase deficiency"
BMGC_DS12245,BMG_DS040973,2-Methylbutyryl-CoA Dehydrogenase Deficiency | 2-methylbutyryl-CoA dehydrogenase deficiency
BMGC_DS12246,BMG_DS040974,Northern epilepsy syndrome | neuronal ceroid lipofuscinosis 8 northern epilepsy variant
BMGC_DS12247,BMG_DS040979,Osteosclerosis with ichthyosis and premature ovarian failure | osteosclerosis-ichthyosis-premature ovarian failure syndrome
BMGC_DS12248,BMG_DS040983,"Natural Killer Cell Deficiency, Familial Isolated | immunodeficiency 54 | primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"
BMGC_DS12249,BMG_DS040984,"Hyperinsulinemic Hypoglycemia, Familial, 4 | hyperinsulinemic hypoglycemia, familial, 4"
BMGC_DS12250,BMG_DS040985,"Hyperinsulinemic Hypoglycemia, Familial, 5 | hyperinsulinism due to INSR deficiency"
BMGC_DS12251,BMG_DS040986,"Deafness, Autosomal Dominant 53 | autosomal dominant nonsyndromic hearing loss 53"
BMGC_DS12252,BMG_DS040990,"DEAFNESS, AUTOSOMAL RECESSIVE 55 | autosomal recessive nonsyndromic hearing loss 55"
BMGC_DS12253,BMG_DS040991,"Deafness, Autosomal Recessive 47 | autosomal recessive nonsyndromic hearing loss 47"
BMGC_DS12254,BMG_DS040992,"Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia | brachyphalangy, polydactyly, and tibial aplasia/hypoplasia"
BMGC_DS12255,BMG_DS040993,"Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features | ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features"
BMGC_DS12256,BMG_DS040994,"DEAFNESS, AUTOSOMAL RECESSIVE 51 | autosomal recessive nonsyndromic hearing loss 51"
BMGC_DS12257,BMG_DS040996,"Migraine, Familial Hemiplegic, 3 | migraine, familial hemiplegic, 3"
BMGC_DS12258,BMG_DS040999,"Visceral Neuropathy, Familial, Autosomal Dominant | visceral neuropathy, familial, 3, autosomal dominant"
BMGC_DS12259,BMG_DS041000,"Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and neutrophilic dermatosis | Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis | Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder) | Majeed syndrome"
BMGC_DS12260,BMG_DS041001,Short QT Syndrome 3 | short QT syndrome type 3
BMGC_DS12261,BMG_DS041002,Short QT Syndrome 2 | short QT syndrome type 2
BMGC_DS12262,BMG_DS041003,Short QT Syndrome 1 | short QT syndrome type 1
BMGC_DS12263,BMG_DS041004,"Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness | spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness"
BMGC_DS12264,BMG_DS041005,"fibrosis of extraocular muscles, congenital, with synergistic divergence"
BMGC_DS12265,BMG_DS041007,PARIETAL FORAMINA 2 | parietal foramina 2
BMGC_DS12266,BMG_DS041008,"SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT | familial scaphocephaly syndrome, McGillivray type"
BMGC_DS12267,BMG_DS041010,"Tooth Agenesis, Selective, 2 | tooth agenesis, selective, 2"
BMGC_DS12268,BMG_DS041011,"Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal | skeletal dysplasia and progressive central nervous system degeneration, lethal"
BMGC_DS12269,BMG_DS041015,BRANCHIOOTIC SYNDROME 1 | branchiootic syndrome 1
BMGC_DS12270,BMG_DS041016,Congenital disorder of glycosylation type 1B | MPI-congenital disorder of glycosylation
BMGC_DS12271,BMG_DS041018,Mandibulofacial Dysostosis with Macroblepharon and Macrostomia | mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
BMGC_DS12272,BMG_DS041021,"Spondyloepimetaphyseal Dysplasia, Shohat Type | spondyloepimetaphyseal dysplasia, Shohat type"
BMGC_DS12273,BMG_DS041024,Torsion dystonia with onset in infancy | torsion dystonia with onset in infancy
BMGC_DS12274,BMG_DS041027,"Muscular Dystrophy, Congenital, Megaconial Type | megaconial type congenital muscular dystrophy"
BMGC_DS12275,BMG_DS041028,"ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS | ichthyosis, hystrix-like, with hearing loss"
BMGC_DS12276,BMG_DS041029,"Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly | grange syndrome"
BMGC_DS12277,BMG_DS041030,Bartter disease type 4A
BMGC_DS12278,BMG_DS041032,Megalencephaly cutis marmorata telangiectatica congenita | megalencephaly-capillary malformation-polymicrogyria syndrome
BMGC_DS12279,BMG_DS041033,"MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA | colobomatous macrophthalmia-microcornea syndrome"
BMGC_DS12280,BMG_DS041034,"HYPERLIPIDEMIA, COMBINED, 1 | hyperlipidemia, combined, 1"
BMGC_DS12281,BMG_DS041035,"Hyperinsulinemic hypoglycemia, familial, 3 | hyperinsulinism due to glucokinase deficiency"
BMGC_DS12282,BMG_DS041037,Pelvic dysplasia arthrogryposis of lower limbs | pelvic dysplasia-arthrogryposis of lower limbs syndrome
BMGC_DS12283,BMG_DS041038,Auriculo-condylar syndrome | Auriculo-condylar syndrome (disorder) | Auriculocondylar syndrome | Dysgnathia complex | Question-mark ear syndrome | auriculocondylar syndrome
BMGC_DS12284,BMG_DS041039,"MIGRAINE, FAMILIAL HEMIPLEGIC, 2 | familial hemiplegic migraine 2 | migraine, familial hemiplegic, 2"
BMGC_DS12285,BMG_DS041040,"Migraine, Familial Basilar"
BMGC_DS12286,BMG_DS041041,"Febrile Convulsions, Familial, 2 | febrile seizures, familial, 2"
BMGC_DS12287,BMG_DS041042,OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE | ossification of the posterior longitudinal ligament of spine | ossification of the posterior longitudinal ligament of the spine
BMGC_DS12288,BMG_DS041043,Ethylmalonic encephalopathy | Ethylmalonic encephalopathy (disorder) | ethylmalonic encephalopathy
BMGC_DS12289,BMG_DS041045,short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
BMGC_DS12290,BMG_DS041046,"Deafness, Autosomal Dominant 15 | autosomal dominant nonsyndromic hearing loss 15"
BMGC_DS12291,BMG_DS041047,Severe combined immunodeficiency with sensitivity to ionizing radiation | severe combined immunodeficiency due to DCLRE1C deficiency | severe combined immunodeficiency with sensitivity to ionizing radiation
BMGC_DS12292,BMG_DS041048,"SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE"
BMGC_DS12293,BMG_DS041049,"SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL"
BMGC_DS12294,BMG_DS041050,"Amyotrophy, monomelic | monomelic amyotrophy"
BMGC_DS12295,BMG_DS041051,"Amyotrophic Lateral Sclerosis 4, Juvenile | amyotrophic lateral sclerosis type 4"
BMGC_DS12296,BMG_DS041053,congenital bilateral absence of vas deferens
BMGC_DS12297,BMG_DS041054,Weyers ulnar ray-oligodactyly syndrome | Weyers ulnar ray/oligodactyly syndrome
BMGC_DS12298,BMG_DS041057,Desmosterolosis | Desmosterolosis (disorder) | desmosterolosis
BMGC_DS12299,BMG_DS041058,"HEMOCHROMATOSIS, TYPE 2A | hemochromatosis type 2A"
BMGC_DS12300,BMG_DS041059,"HEMOCHROMATOSIS, TYPE 2B | hemochromatosis type 2B"
BMGC_DS12301,BMG_DS041060,Gracile bone dysplasia | Osteocraniosplenic syndrome | Osteocraniostenosis | Osteocraniostenosis (disorder) | osteocraniostenosis
BMGC_DS12302,BMG_DS041061,"Cholestasis, progressive familial intrahepatic 3 | progressive familial intrahepatic cholestasis 3 | progressive familial intrahepatic cholestasis type 3"
BMGC_DS12303,BMG_DS041062,"Pierpont syndrome | Plantar Lipomatosis, Unusual Facies, and Developmental Delay"
BMGC_DS12304,BMG_DS041064,"Spondylometaphyseal dysplasia, axial | axial spondylometaphyseal dysplasia"
BMGC_DS12305,BMG_DS041067,"XANTHOMATOSIS, SUSCEPTIBILITY TO | xanthomatosis, susceptibility to"
BMGC_DS12306,BMG_DS041068,Ventriculomegaly With Defects Of The Radius And Kidney | ventriculomegaly with defects of the radius and kidney
BMGC_DS12307,BMG_DS041069,Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency | medium chain 3-ketoacyl-Coa thiolase deficiency
BMGC_DS12308,BMG_DS041070,Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
BMGC_DS12309,BMG_DS041071,"RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome | RHYNS syndrome | Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome | Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)"
BMGC_DS12310,BMG_DS041074,"TREMOR, HEREDITARY ESSENTIAL, 2 | essential tremor 2 | tremor, hereditary essential, 2"
BMGC_DS12311,BMG_DS041075,Torsion dystonia 7 | torsion dystonia 7
BMGC_DS12312,BMG_DS041076,"CERVICAL DYSTONIA, PRIMARY | torsion dystonia 7"
BMGC_DS12313,BMG_DS041077,"Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease | nephropathy, progressive tubulointerstitial, with cholestatic liver disease"
BMGC_DS12314,BMG_DS041078,"Spondyloepimetaphyseal Dysplasia, Missouri Type | spondyloepimetaphyseal dysplasia, Missouri type"
BMGC_DS12315,BMG_DS041080,amyotrophic lateral sclerosis type 5
BMGC_DS12316,BMG_DS041081,"Usher Syndrome, Type IE | Usher syndrome type 1E"
BMGC_DS12317,BMG_DS041082,Congenital sensorineural deafness | Congenital sensorineural hearing loss | Congenital sensorineural hearing loss (disorder)
BMGC_DS12318,BMG_DS041083,ALZHEIMER DISEASE 5 | Alzheimer disease 5
BMGC_DS12319,BMG_DS041084,Cone Dystrophy 3 | cone dystrophy 3 | cone-rod dystrophy 14
BMGC_DS12320,BMG_DS041085,"Deafness, Autosomal Recessive 18 | autosomal recessive nonsyndromic hearing loss 18A"
BMGC_DS12321,BMG_DS041086,"HEMANGIOMA, CAPILLARY INFANTILE | capillary infantile hemangioma"
BMGC_DS12322,BMG_DS041087,NEPHRONOPHTHISIS 2 | nephronophthisis 2
BMGC_DS12323,BMG_DS041088,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 | arrhythmogenic right ventricular dysplasia 4"
BMGC_DS12324,BMG_DS041089,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 | arrhythmogenic right ventricular dysplasia 3"
BMGC_DS12325,BMG_DS041090,"Polydactyly, Postaxial, Type A2 | polydactyly, postaxial, type A2"
BMGC_DS12326,BMG_DS041091,"Usher Syndrome, Type IF | Usher syndrome type 1F"
BMGC_DS12327,BMG_DS041092,"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 | congenital fibrosis of the extraocular muscles 2 | fibrosis of extraocular muscles, congenital, 2"
BMGC_DS12328,BMG_DS041093,Bilateral ptosis
BMGC_DS12329,BMG_DS041094,"Broad Terminal Phalanges, Familial | broad terminal phalanges, familial"
BMGC_DS12330,BMG_DS041095,"Infantile convulsions and paroxysmal choreoathetosis, familial | infantile convulsions and choreoathetosis"
BMGC_DS12331,BMG_DS041096,pure hair and nail ectodermal dysplasia
BMGC_DS12332,BMG_DS041097,"Hypomagnesemia 1, Intestinal | intestinal hypomagnesemia 1"
BMGC_DS12333,BMG_DS041098,FRIEDREICH ATAXIA 2 | Friedreich ataxia 2
BMGC_DS12334,BMG_DS041099,Hyperzincemia with Functional Zinc Depletion | hyperzincemia with functional zinc depletion
BMGC_DS12335,BMG_DS041101,Odontotrichoungual-Digital-Palmar Syndrome | odonto-tricho-ungual-digito-palmar syndrome
BMGC_DS12336,BMG_DS041102,"Muscular Dystrophy, Limb-Girdle, Type 2G | autosomal recessive limb-girdle muscular dystrophy type 2G"
BMGC_DS12337,BMG_DS041103,Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma | keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
BMGC_DS12338,BMG_DS041104,"EPISODIC ATAXIA, TYPE 5 | episodic ataxia type 5"
BMGC_DS12339,BMG_DS041105,"DIABETES MELLITUS, INSULIN-DEPENDENT, 10 | type 1 diabetes mellitus 10"
BMGC_DS12340,BMG_DS041106,"DIABETES MELLITUS, INSULIN-DEPENDENT, 6 | type 1 diabetes mellitus 6"
BMGC_DS12341,BMG_DS041107,Severe hydrops
BMGC_DS12342,BMG_DS041108,"Deafness, Congenital Heart Defects, and Posterior Embryotoxon | deafness, congenital heart defects, and posterior embryotoxon"
BMGC_DS12343,BMG_DS041109,orofacial cleft 10
BMGC_DS12344,BMG_DS041110,glomerulopathy with fibronectin deposits 2
BMGC_DS12345,BMG_DS041112,"malignant hyperthermia, susceptibility to, 5"
BMGC_DS12346,BMG_DS041113,"Cataract, Zonular Pulverulent 3 | cataract 14 multiple types"
BMGC_DS12347,BMG_DS041114,Left-Right Axis Malformations
BMGC_DS12348,BMG_DS041115,"DEAFNESS, AUTOSOMAL RECESSIVE 15 | autosomal recessive nonsyndromic hearing loss 15"
BMGC_DS12349,BMG_DS041116,"Deafness, Autosomal Dominant 13 | autosomal dominant nonsyndromic hearing loss 13"
BMGC_DS12350,BMG_DS041117,"Autoimmune Lymphoproliferative Syndrome, Type IA"
BMGC_DS12351,BMG_DS041118,"Autoimmune Lymphoproliferative Syndrome, Type IB"
BMGC_DS12352,BMG_DS041121,Vacuolar Neuromyopathy | vacuolar Neuromyopathy
BMGC_DS12353,BMG_DS041123,PHGDH deficiency | Phosphoglycerate Dehydrogenase Deficiency
BMGC_DS12354,BMG_DS041124,Exudative Vitreoretinopathy 4 | exudative vitreoretinopathy 4
BMGC_DS12355,BMG_DS041125,Penttinen-Aula syndrome | acroosteolysis-keloid-like lesions-premature aging syndrome
BMGC_DS12356,BMG_DS041126,"Premature Aging Syndrome, Okamoto Type | premature aging syndrome, Okamoto type"
BMGC_DS12357,BMG_DS041127,Spondylospinal Thoracic Dysostosis | Spondylospinal thoracic dysostosis
BMGC_DS12358,BMG_DS041128,Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome
BMGC_DS12359,BMG_DS041129,"Peroxisome Biogenesis Disorder, Complementation Group K | peroxisome biogenesis disorder, complementation group K"
BMGC_DS12360,BMG_DS041132,Retinal cone dystrophy 2 | cone-rod dystrophy 6
BMGC_DS12361,BMG_DS041133,"Ehlers-Danlos syndrome, musculocontractural type"
BMGC_DS12362,BMG_DS041134,Preaxial Hallucal Polydactyly | preaxial hallucal polydactyly
BMGC_DS12363,BMG_DS041138,"systemic lupus erythematosus, susceptibility to, 1"
BMGC_DS12364,BMG_DS041139,Proteus Syndrome | Proteus-Like Syndrome | Proteus-like syndrome
BMGC_DS12365,BMG_DS041140,RETINITIS PIGMENTOSA 19 | retinitis pigmentosa 19
BMGC_DS12366,BMG_DS041141,Quebec platelet disorder
BMGC_DS12367,BMG_DS041142,"Superior Transverse Scapular Ligament, Calcification Of, Familial | superior transverse scapular ligament, calcification of, familial"
BMGC_DS12368,BMG_DS041143,"Yemenite deaf-blind hypopigmentation syndrome | deaf blind hypopigmentation syndrome, Yemenite type"
BMGC_DS12369,BMG_DS041144,"T-cell immunodeficiency, congenital alopecia and nail dystrophy | T-cell immunodeficiency, congenital alopecia, and nail dystrophy"
BMGC_DS12370,BMG_DS041145,Arthrogryposis and ectodermal dysplasia | tricho-oculo-dermo-vertebral syndrome
BMGC_DS12371,BMG_DS041146,"Sebaceous gland hyperplasia, familial presenile | sebaceous gland hyperplasia, familial presenile"
BMGC_DS12372,BMG_DS041148,glaucoma type 1C
BMGC_DS12373,BMG_DS041149,"Bartter disease type 1 | Bartter syndrome, antenatal type 1"
BMGC_DS12374,BMG_DS041151,"Photosensitive Trichothiodystrophy | Trichothiodystrophy Syndromes | nonphotosensitive trichothiodystrophy 5 | photosensitive trichothiodystrophy | trichothiodystrophy 1, photosensitive"
BMGC_DS12375,BMG_DS041154,"DIABETES MELLITUS, INSULIN-DEPENDENT, 15 | type 1 diabetes mellitus 15"
BMGC_DS12376,BMG_DS041155,Paragangliomas 2 | paragangliomas 2
BMGC_DS12377,BMG_DS041156,"Neural tube defect, folate-sensitive | neural tube defects, folate-sensitive"
BMGC_DS12378,BMG_DS041158,"Iridogoniodysgenesis, Type 1 | anterior segment dysgenesis 3"
BMGC_DS12379,BMG_DS041160,Iris Pigment Epithelium Anomalies | iris pigment epithelium anomalies
BMGC_DS12380,BMG_DS041161,Spastic Paraplegia And Evans Syndrome | spastic paraplegia and Evans syndrome
BMGC_DS12381,BMG_DS041163,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C | Charcot-Marie-Tooth disease type 4C"
BMGC_DS12382,BMG_DS041164,Steinfeld Syndrome | holoprosencephaly-radial heart renal anomalies syndrome
BMGC_DS12383,BMG_DS041165,Steatocystoma multiplex with natal teeth | steatocystoma multiplex-natal teeth syndrome
BMGC_DS12384,BMG_DS041166,Stapes ankylosis with broad thumb and toe syndrome | Stapes ankylosis with broad thumb and toe syndrome (disorder) | Teunissen Cremers syndrome | stapes ankylosis with broad thumbs and toes
BMGC_DS12385,BMG_DS041167,"Spondylometaphyseal dysplasia, Algerian type | spondylometaphyseal dysplasia Algerian type | spondylometaphyseal dysplasia, Schmidt type"
BMGC_DS12386,BMG_DS041168,"Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant | spondyloepiphyseal dysplasia tarda, autosomal dominant"
BMGC_DS12387,BMG_DS041172,"SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2 | ankylosing spondylitis 2 | spondyloarthropathy, susceptibility to, 2"
BMGC_DS12388,BMG_DS041174,"Karsch-Neugebauer syndrome | SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS"
BMGC_DS12389,BMG_DS041175,Split-Hand And Split-Foot With Hypodontia | split-hand and split-foot with hypodontia
BMGC_DS12390,BMG_DS041176,split lower lip
BMGC_DS12391,BMG_DS041178,Splenogonadal fusion limb defects micrognatia | splenogonadal fusion-limb defects-micrognathia syndrome
BMGC_DS12392,BMG_DS041179,Spinocerebellar Atrophy With Pupillary Paralysis | spinocerebellar atrophy with pupillary paralysis
BMGC_DS12393,BMG_DS041181,Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy | spinocerebellar ataxia with rigidity and peripheral neuropathy
BMGC_DS12394,BMG_DS041182,"spinal muscular atrophy, segmental"
BMGC_DS12395,BMG_DS041184,"Spinal Muscular Atrophy, Facioscapulohumeral Type | spinal muscular atrophy, facioscapulohumeral type"
BMGC_DS12396,BMG_DS041185,"Neuronopathy, Distal Hereditary Motor, Type I | autosomal dominant distal hereditary motor neuronopathy 1 | neuronopathy, distal hereditary motor, autosomal dominant 1"
BMGC_DS12397,BMG_DS041186,Spheroid body myopathy | Spheroid body myopathy (disorder)
BMGC_DS12398,BMG_DS041188,"Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease | delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome"
BMGC_DS12399,BMG_DS041189,ELLIPTOCYTOSIS 3 | elliptocytosis 3
BMGC_DS12400,BMG_DS041190,"Spastic Paraplegia, Optic Atrophy, And Dementia | spastic paraplegia, optic atrophy, and dementia"
BMGC_DS12401,BMG_DS041192,Spastic paraplegia neuropathy poikiloderma | spastic paraplegia-neuropathy-poikiloderma syndrome
BMGC_DS12402,BMG_DS041193,Spastic Paraplegia With Associated Extrapyramidal Signs | spastic paraplegia with associated extrapyramidal signs
BMGC_DS12403,BMG_DS041194,"Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy | spastic paraplegia-nephritis-deafness syndrome"
BMGC_DS12404,BMG_DS041196,"Spastic paraplegia 4, autosomal dominant | hereditary spastic paraplegia 4"
BMGC_DS12405,BMG_DS041198,Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification | skeletal dysplasia with delayed epiphyseal and carpal bone ossification
BMGC_DS12406,BMG_DS041200,"Shprintzen omphalocele syndrome | omphalocele syndrome, Shprintzen-Goldberg type"
BMGC_DS12407,BMG_DS041201,"sella turcica, bridged"
BMGC_DS12408,BMG_DS041202,Sinus Node Disease and Myopia | sinus node disease and myopia
BMGC_DS12409,BMG_DS041203,Simosa cranio facial syndrome | flat face-microstomia-ear anomaly syndrome
BMGC_DS12410,BMG_DS041204,"SCLERODERMA, FAMILIAL PROGRESSIVE | scleroderma, familial progressive"
BMGC_DS12411,BMG_DS041206,"Intellectual disability, balding, patella luxation, acromicria syndrome | Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) | Scholte Begeer-van Essen syndrome | Scholte syndrome | intellectual disability-balding-patella luxation-acromicria syndrome"
BMGC_DS12412,BMG_DS041208,Schinzel syndrome | Ulnar mammary syndrome | Ulnar mammary syndrome (disorder) | Ulnar-mammary syndrome | ulnar-mammary syndrome
BMGC_DS12413,BMG_DS041209,"Scapuloperoneal Syndrome, Neurogenic, Kaeser Type | neurogenic scapuloperoneal syndrome Kaeser type | neurogenic scapuloperoneal syndrome, Kaeser type"
BMGC_DS12414,BMG_DS041210,SCALP-EAR-NIPPLE SYNDROME | scalp-ear-nipple syndrome
BMGC_DS12415,BMG_DS041211,Scalp defects postaxial polydactyly | scalp defects-postaxial polydactyly syndrome
BMGC_DS12416,BMG_DS041212,Say syndrome | cleft palate-large ears-small head syndrome
BMGC_DS12417,BMG_DS041218,Robinow Sorauf syndrome | Robinow-Sorauf syndrome
BMGC_DS12418,BMG_DS041219,Rombo syndrome | Rombo syndrome (disorder)
BMGC_DS12419,BMG_DS041220,RING DERMOID OF CORNEA | ring dermoid of cornea
BMGC_DS12420,BMG_DS041221,rhiny
BMGC_DS12421,BMG_DS041222,"rhabdomyosarcoma, embryonal, 2"
BMGC_DS12422,BMG_DS041225,"Retinopathy, Pericentral Pigmentary, Dominant | dominant pericentral pigmentary retinopathy"
BMGC_DS12423,BMG_DS041226,Retinitis Pigmentosa 10 | retinitis pigmentosa 10
BMGC_DS12424,BMG_DS041227,RETINITIS PIGMENTOSA 9 | retinitis pigmentosa 9
BMGC_DS12425,BMG_DS041229,RETINAL CONE DYSTROPHY 1 | retinal cone dystrophy type 1
BMGC_DS12426,BMG_DS041231,Reticular Dystrophy Of Retinal Pigment Epithelium | reticular dystrophy of the retinal pigment epithelium
BMGC_DS12427,BMG_DS041232,Red cell phospholipid defect with hemolysis | red cell phospholipid defect with hemolysis
BMGC_DS12428,BMG_DS041234,raindrop hypopigmentation
BMGC_DS12429,BMG_DS041236,"RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE | radius, aplasia of, with cleft lip/palate"
BMGC_DS12430,BMG_DS041237,RADIAL-RENAL SYNDROME
BMGC_DS12431,BMG_DS041238,"Radial hypoplasia, triphalangeal thumbs and hypospadias | radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome"
BMGC_DS12432,BMG_DS041239,"Radial Heads, Posterior Dislocation Of | radial heads, posterior dislocation of"
BMGC_DS12433,BMG_DS041240,"Infantile Hypertrophic Pyloric Stenosis | Pyloric Stenosis, Hypertrophic | hypertrophic pyloric stenosis | pyloric stenosis, infantile hypertrophic, 1"
BMGC_DS12434,BMG_DS041241,PULMONIC STENOSIS AND DEAFNESS | pulmonic stenosis and deafness
BMGC_DS12435,BMG_DS041242,"Ciuffo Syndrome | pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities"
BMGC_DS12436,BMG_DS041244,Pubic Bone Dysplasia | pubic bone dysplasia
BMGC_DS12437,BMG_DS041245,"Ptosis, Strabismus, And Ectopic Pupils | ptosis-strabismus-ectopic pupils syndrome"
BMGC_DS12438,BMG_DS041246,"Ptosis, Hereditary Congenital 1 | ptosis, hereditary congenital, 1"
BMGC_DS12439,BMG_DS041247,"Pterygium, Antecubital | antecubital pterygium syndrome"
BMGC_DS12440,BMG_DS041248,"Autosomal dominant multiple pterygium syndrome | Autosomal dominant multiple pterygium syndrome (disorder) | Distal arthrogryposis type 8 | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A"
BMGC_DS12441,BMG_DS041249,"Pterygium Colli, Isolated | pterygium colli, isolated"
BMGC_DS12442,BMG_DS041250,Haspeslagh Fryns Muelenaere syndrome | Short stature with craniofacial anomalies and genital hypoplasia syndrome | Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) | short stature-craniofacial anomalies-genital hypoplasia syndrome
BMGC_DS12443,BMG_DS041251,"psoriasis 1, susceptibility to"
BMGC_DS12444,BMG_DS041252,"Pseudoxanthoma Elasticum | Pseudoxanthoma Elasticum, Incomplete | pseudoxanthoma elasticum, forme fruste"
BMGC_DS12445,BMG_DS041256,"Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type"
BMGC_DS12446,BMG_DS041259,"Pruritus, Hereditary Localized | pruritus, hereditary localized"
BMGC_DS12447,BMG_DS041262,benign neoplasm of eye
BMGC_DS12448,BMG_DS041265,PCAD - premature coronary artery disease | Premature coronary artery disease | Premature coronary artery disease (disorder)
BMGC_DS12449,BMG_DS041266,Primary Release Disorder Of Platelets | primary release disorder of platelets
BMGC_DS12450,BMG_DS041268,"Presenile dementia, Kraepelin type | presenile dementia, Kraepelin type"
BMGC_DS12451,BMG_DS041271,"Guttmacher syndrome | Preaxial deficiency, postaxial polydactyly and hypospadias"
BMGC_DS12452,BMG_DS041273,LONG QT SYNDROME 5 | long QT syndrome 5
BMGC_DS12453,BMG_DS041274,Posterior column ataxia | posterior column ataxia
BMGC_DS12454,BMG_DS041275,postaxial tetramelic oligodactyly
BMGC_DS12455,BMG_DS041276,"Porphyria Cutanea Tarda, Type I | sporadic porphyria cutanea tarda"
BMGC_DS12456,BMG_DS041277,"Porphyria, Acute Intermittent, Nonerythroid Variant"
BMGC_DS12457,BMG_DS041278,"POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 | porokeratosis 3, disseminated superficial actinic type"
BMGC_DS12458,BMG_DS041279,punctate palmoplantar keratoderma type 2
BMGC_DS12459,BMG_DS041280,Familial porencephalic cyst | Familial porencephaly | Familial porencephaly (disorder) | familial porencephaly | porencephaly
BMGC_DS12460,BMG_DS041283,polyposis of gastric fundus without polyposis coli
BMGC_DS12461,BMG_DS041284,"polyposis, intestinal, with multiple exostoses"
BMGC_DS12462,BMG_DS041285,"polyposis, intestinal, scattered and discrete"
BMGC_DS12463,BMG_DS041288,Juvenile Polyposis Coli | generalized juvenile polyposis/juvenile polyposis coli | juvenile polyposis syndrome
BMGC_DS12464,BMG_DS041290,polysyndactyly 4
BMGC_DS12465,BMG_DS041292,"Polydactyly, Preaxial III | polydactyly of an index finger"
BMGC_DS12466,BMG_DS041293,polydactyly of a triphalangeal thumb
BMGC_DS12467,BMG_DS041294,"POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA | polydactyly-myopia syndrome"
BMGC_DS12468,BMG_DS041295,Orofaciodigital syndrome 5 | orofaciodigital syndrome V
BMGC_DS12469,BMG_DS041296,postaxial polydactyly type B
BMGC_DS12470,BMG_DS041297,"Autosomal dominant medullary cystic kidney disease without hyperuricaemia | Autosomal dominant medullary cystic kidney disease without hyperuricemia | MUC1-related autosomal dominant tubulointerstitial kidney disease | Medullary cystic kidney disease 1 | Mucin 1 related autosomal dominant tubulointerstitial kidney disease | Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) | tubulointerstitial kidney disease, autosomal dominant, 2"
BMGC_DS12471,BMG_DS041300,"PNEUMOTHORAX, PRIMARY SPONTANEOUS | familial spontaneous pneumothorax | primary spontaneous pneumothorax"
BMGC_DS12472,BMG_DS041301,Platelet Signal Processing Defect | platelet signal processing defect
BMGC_DS12473,BMG_DS041305,Platelet Factor 3 Deficiency | platelet factor 3 deficiency
BMGC_DS12474,BMG_DS041306,"Platelet Disorder, Undefined | platelet disorder, undefined"
BMGC_DS12475,BMG_DS041309,Robin sequence and oligodactyly | Robin sequence-oligodactyly syndrome
BMGC_DS12476,BMG_DS041310,Pigmented Paravenous Chorioretinal Atrophy | pigmented paravenous chorioretinal atrophy | pigmented paravenous retinochoroidal atrophy
BMGC_DS12477,BMG_DS041311,Piebald trait with neurologic defects syndrome | Piebald trait with neurologic defects syndrome (disorder) | Telfer Sugar Jaeger syndrome | piebald trait-neurologic defects syndrome
BMGC_DS12478,BMG_DS041313,6-Phosphogluconolactonase Deficiency | 6-phosphogluconolactonase deficiency
BMGC_DS12479,BMG_DS041316,Phlebectasia Of Lips | phlebectasia of lips
BMGC_DS12480,BMG_DS041317,pheochromocytoma-islet cell tumor syndrome
BMGC_DS12481,BMG_DS041320,"Accessory deep peroneal nerve | peroneal nerve, accessory deep"
BMGC_DS12482,BMG_DS041321,"Normokalemic Periodic Paralysis, Potassium-Sensitive"
BMGC_DS12483,BMG_DS041325,Pelvis-Shoulder Dysplasia | pelvis-shoulder dysplasia
BMGC_DS12484,BMG_DS041326,Pelvic Lipomatosis with Crossed Renal Ectopia | pelvic lipomatosis with crossed renal ectopia
BMGC_DS12485,BMG_DS041327,"Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant | adult-onset autosomal dominant demyelinating leukodystrophy"
BMGC_DS12486,BMG_DS041328,Pechet Factor Deficiency | Pechet factor deficiency
BMGC_DS12487,BMG_DS041330,Patterned dystrophy of retinal pigment epithelium | patterned dystrophy of the retinal pigment epithelium
BMGC_DS12488,BMG_DS041331,CHAR SYNDROME | Char syndrome
BMGC_DS12489,BMG_DS041333,"Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia | benign paroxysmal tonic upgaze of childhood with ataxia"
BMGC_DS12490,BMG_DS041334,patella aplasia/hypoplasia
BMGC_DS12491,BMG_DS041335," | Patella aplasia, coxa vara, tarsal synostosis | ischiocoxopodopatellar syndrome | obsolete patella aplasia, coxa vara, and tarsal synostosis"
BMGC_DS12492,BMG_DS041336,"Parotidomegaly, Hereditary Bilateral | Parotidomegaly, hereditary bilateral"
BMGC_DS12493,BMG_DS041337,Perry Syndrome | Perry syndrome
BMGC_DS12494,BMG_DS041338,"PARKINSON DISEASE 1, AUTOSOMAL DOMINANT | Parkinson's disease 1 | autosomal dominant Parkinson disease 1"
BMGC_DS12495,BMG_DS041340,Parietal Foramina With Cleidocranial Dysplasia | parietal foramina with cleidocranial dysplasia
BMGC_DS12496,BMG_DS041341,parietal foramina
BMGC_DS12497,BMG_DS041342,parietal foramina 1
BMGC_DS12498,BMG_DS041343,parastremmatic dwarfism
BMGC_DS12499,BMG_DS041344,Myotonic Disorders | Paramyotonia Congenita Without Cold Paralysis
BMGC_DS12500,BMG_DS041345,Paragangliomas with Sensorineural Hearing Loss
BMGC_DS12501,BMG_DS041346,"papillomatosis, florid, of nipple"
BMGC_DS12502,BMG_DS041347,panic disorder 1
BMGC_DS12503,BMG_DS041353,Nasopalpebral lipoma coloboma syndrome | Nasopalpebral lipoma coloboma syndrome (disorder) | nasopalpebral lipoma-coloboma syndrome
BMGC_DS12504,BMG_DS041354,"palmaris longus muscle, absence of"
BMGC_DS12505,BMG_DS041355,"NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | nephrotic syndrome type 2 | nephrotic syndrome, type 2"
BMGC_DS12506,BMG_DS041356,"PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | Parkinson's disease 2 | autosomal recessive juvenile Parkinson disease 2"
BMGC_DS12507,BMG_DS041357,PHOTOPAROXYSMAL RESPONSE 1 | photoparoxysmal response 1
BMGC_DS12508,BMG_DS041358,"Thanatophoric Dysplasia, Type I | thanatophoric dysplasia type 1"
BMGC_DS12509,BMG_DS041359,"GRISCELLI SYNDROME, TYPE 2 | Griscelli syndrome type 2"
BMGC_DS12510,BMG_DS041360,DYSTONIA 12 | dystonia 12
BMGC_DS12511,BMG_DS041361,Paroxysmal choreoathetosis | Paroxysmal choreoathetosis (disorder) | Paroxysmal dyskinesia | Paroxysmal kinesigenic choreoathetosis | Paroxysmal kinesigenic choreoathetosis (disorder) | Paroxysmal kinesigenic dyskinesia | Paroxysmal kinesigenic dyskinesia (disorder) | episodic kinesigenic dyskinesia
BMGC_DS12512,BMG_DS041362,"leukemia, chronic lymphocytic, susceptibility to, 2"
BMGC_DS12513,BMG_DS041363,"EAR, PATELLA, SHORT STATURE SYNDROME | Meier-Gorlin syndrome | Meier-Gorlin syndrome 1"
BMGC_DS12514,BMG_DS041364,"multiple sclerosis, susceptibility to"
BMGC_DS12515,BMG_DS041365,Shone complex | Shone complex (disorder) | Shone syndrome | shone complex
BMGC_DS12516,BMG_DS041368,Periventricular Nodular Heterotopia | periventricular nodular heterotopia
BMGC_DS12517,BMG_DS041371,diabetic encephalopathy
BMGC_DS12518,BMG_DS041374,penoscrotal transposition
BMGC_DS12519,BMG_DS041375,Constipation predominant irritable bowel syndrome | Irritable bowel syndrome characterised by constipation | Irritable bowel syndrome characterized by constipation | Irritable bowel syndrome characterized by constipation (disorder)
BMGC_DS12520,BMG_DS041378,"Weill-Marchesani Syndrome | Weill-Marchesani Syndrome, Autosomal Recessive | Weill-Marchesani syndrome"
BMGC_DS12521,BMG_DS041379,"Weill-Marchesani Syndrome | Weill-Marchesani Syndrome, Autosomal Dominant | Weill-Marchesani syndrome | Weill-Marchesani syndrome 2, dominant"
BMGC_DS12522,BMG_DS041380,inherited susceptibility to asthma
BMGC_DS12523,BMG_DS041381,Familial paroxysmal choreoathetosis | Mount-Reback syndrome | Paroxysmal dystonic choreoathetosis | Paroxysmal nonkinesigenic dyskinesia | Paroxysmal nonkinesigenic dyskinesia (disorder) | paroxysmal nonkinesigenic dyskinesia
BMGC_DS12524,BMG_DS041382,"hypothyroidism, congenital, nongoitrous, 2"
BMGC_DS12525,BMG_DS041383,Ehlers-Danlos syndrome spondylodysplastic type 2
BMGC_DS12526,BMG_DS041384,Limb-girdle muscular dystrophy type 2A | autosomal recessive limb-girdle muscular dystrophy type 2A
BMGC_DS12527,BMG_DS041385,"CEROID LIPOFUSCINOSIS, NEURONAL, 2 | neuronal ceroid lipofuscinosis 2"
BMGC_DS12528,BMG_DS041387,Copper-Overload Cirrhosis
BMGC_DS12529,BMG_DS041392,"asthma, aspirin-induced, susceptibility to"
BMGC_DS12530,BMG_DS041393,Ataxia-Telangiectasia Variant | ataxia - telangiectasia variant
BMGC_DS12531,BMG_DS041395,"restless legs syndrome, susceptibility to, 1"
BMGC_DS12532,BMG_DS041396,"arteries, anomalies of"
BMGC_DS12533,BMG_DS041397,"EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS | external auditory canal atresia-vertical talus-hypertelorism syndrome"
BMGC_DS12534,BMG_DS041398,"NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 | congenital stationary night blindness autosomal dominant 2"
BMGC_DS12535,BMG_DS041399,calcaneonavicular coalition
BMGC_DS12536,BMG_DS041400,Dysgnathia complex
BMGC_DS12537,BMG_DS041401,"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome"
BMGC_DS12538,BMG_DS041402,frontonasal dysplasia
BMGC_DS12539,BMG_DS041404,"Hereditary bundle branch system defect | progressive familial heart block, type 1A"
BMGC_DS12540,BMG_DS041405,acute myeloblastic leukemia with maturation | acute myeloid leukemia with maturation
BMGC_DS12541,BMG_DS041408,Elevated tyrosine blood level | Hypertyrosinaemia | Hypertyrosinemia | Hypertyrosinemia (disorder) | Tyrosinaemia | Tyrosinemia | Tyrosinemia (disorder)
BMGC_DS12542,BMG_DS041414,Inappropriate sinus tachycardia | Inappropriate sinus tachycardia (disorder)
BMGC_DS12543,BMG_DS041421,uterine corpus cancer
BMGC_DS12544,BMG_DS041431,HHV-6 encephalitis | Human Herpesvirus 6 encephalitis
BMGC_DS12545,BMG_DS041434,Glucocorticoid deficiency
BMGC_DS12546,BMG_DS041445,T-cell large granular lymphocyte leukemia
BMGC_DS12547,BMG_DS041446,Malformations of Cortical Development
BMGC_DS12548,BMG_DS041447,Classical Lissencephalies and Subcortical Band Heterotopias | chromosome 17p13.1 deletion syndrome
BMGC_DS12549,BMG_DS041449,Trichothiodystrophy Syndromes | nonphotosensitive trichothiodystrophy 5 | photosensitive trichothiodystrophy | trichothiodystrophy
BMGC_DS12550,BMG_DS041451,Jacobsen Distal 11q Deletion Syndrome | Jacobsen Syndrome | Paris-Trousseau Thrombocytopenia | Paris-Trousseau thrombocytopenia
BMGC_DS12551,BMG_DS041452,Wolf-Hirschhorn Syndrome | Wolf-Hirschhorn syndrome
BMGC_DS12552,BMG_DS041453,Alagille Syndrome | Alagille Syndrome 1 | Alagille syndrome due to a JAG1 point mutation
BMGC_DS12553,BMG_DS041454,microlissencephaly
BMGC_DS12554,BMG_DS041456,"Basal Ganglia Hemorrhage | Hematoma, Basal Ganglia"
BMGC_DS12555,BMG_DS041459,Pulmonary Stenosis | Pulmonary Valve Stenosis | pulmonic stenosis | valvar pulmonary stenosis
BMGC_DS12556,BMG_DS041460,"Familial Thrombotic Thrombocytopenic Purpura | Purpura, Thrombotic Thrombocytopenic"
BMGC_DS12557,BMG_DS041461,Coronary Artery Disease | coronary artery disorder
BMGC_DS12558,BMG_DS041462,"Cerebral Amyloid Angiopathy, Familial | Cerebral Amyloid Angiopathy, Genetic | cerebral amyloid angiopathy"
BMGC_DS12559,BMG_DS041464,Cranial Arteritis | Giant Cell Arteritis
BMGC_DS12560,BMG_DS041465,Giant Cell Arteritis | Temporal Arteritis | temporal arteritis
BMGC_DS12561,BMG_DS041469,"Double Outlet Right Ventricle | Double Outlet Right Ventricle, Subaortic VSD"
BMGC_DS12562,BMG_DS041473,"Bannayan-Riley-Ruvalcaba syndrome | Hamartoma Syndrome, Multiple | PTEN Hamartoma Tumor Syndrome | PTEN hamartoma tumor syndrome"
BMGC_DS12563,BMG_DS041474,Heart Failure | Myocardial Failure
BMGC_DS12564,BMG_DS041478,Dihydropyrimidine Dehydrogenase Deficiency | dihydropyrimidine dehydrogenase deficiency
BMGC_DS12565,BMG_DS041479,Mevalonate Kinase Deficiency | Mevalonic Aciduria | mevalonic aciduria
BMGC_DS12566,BMG_DS041484,Calcium renal calculus | Calcium renal calculus (disorder)
BMGC_DS12567,BMG_DS041499,Aphthosis | Aphthous ulcer | Aphthous ulceration | Aphthous ulceration of skin and/or mucous membrane | Aphthous ulceration of skin and/or mucous membrane (disorder)
BMGC_DS12568,BMG_DS041545,HER2 positive breast carcinoma
BMGC_DS12569,BMG_DS041558,Hereditary angio-oedema with normal C1 esterase inhibitor activity | Hereditary angioedema - type 3 | Hereditary angioedema with normal C1 esterase inhibitor activity | Hereditary angioedema with normal C1 esterase inhibitor activity (disorder) | Hereditary angioneurotic edema with normal C1 esterase inhibitor activity | Hereditary angioneurotic oedema with normal C1 esterase inhibitor activity | hereditary angioedema with normal C1Inh
BMGC_DS12570,BMG_DS041561,Left ventricular noncompaction | Left ventricular noncompaction (disorder) | left ventricular noncompaction
BMGC_DS12571,BMG_DS041572,Aromatase deficiency | aromatase deficiency
BMGC_DS12572,BMG_DS041593,Long-chain fatty acid transport deficiency | Long-chain fatty acid transport deficiency (disorder)
BMGC_DS12573,BMG_DS041602,Crohn disease in remission | Crohn's disease in remission | Crohn's disease in remission (disorder)
BMGC_DS12574,BMG_DS041621,Right-sided Staphylococcus aureus endocarditis | Right-sided Staphylococcus aureus endocarditis (disorder)
BMGC_DS12575,BMG_DS041630,T-cell acute lymphoblastic leukemia
BMGC_DS12576,BMG_DS041635,"Gaucher Disease | Gaucher Disease, Type 1 | Gaucher disease type I"
BMGC_DS12577,BMG_DS041641,Spinocerebellar Ataxia 10 | spinocerebellar ataxia type 10
BMGC_DS12578,BMG_DS041652,"ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS | severe congenital encephalopathy due to MECP2 mutation | severe neonatal-onset encephalopathy with microcephaly"
BMGC_DS12579,BMG_DS041653,"Xeroderma Pigmentosum, Type G-Cockayne Syndrome | xeroderma pigmentosum, type G/Cockayne syndrome"
BMGC_DS12580,BMG_DS041654,Respiratory Distress Syndrome In Premature Infants | respiratory distress syndrome in premature infants
BMGC_DS12581,BMG_DS041655,"Surfactant Metabolism Dysfunction, Pulmonary, 1 | surfactant metabolism dysfunction, pulmonary, 1"
BMGC_DS12582,BMG_DS041656,"Osteopetrosis, Autosomal Recessive 5 | autosomal recessive osteopetrosis 5"
BMGC_DS12583,BMG_DS041657,"Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies | microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies"
BMGC_DS12584,BMG_DS041658,"leprosy, susceptibility to, 3"
BMGC_DS12585,BMG_DS041659,hyper IgE recurrent infection syndrome 1
BMGC_DS12586,BMG_DS041661,Glycogen Storage Disease IIIA
BMGC_DS12587,BMG_DS041662,Glycogen Storage Disease IIIB
BMGC_DS12588,BMG_DS041663,Glycogen Storage Disease IIIC
BMGC_DS12589,BMG_DS041666,"Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement"
BMGC_DS12590,BMG_DS041668,"MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES | myopathy, congenital, with excess of muscle spindles"
BMGC_DS12591,BMG_DS041669,"Plasminogen Deficiency, Type I | hypoplasminogenemia | plasminogen deficiency type I"
BMGC_DS12592,BMG_DS041672,"Microphthalmia, Isolated, with Coloboma 5 | microphthalmia, isolated, with coloboma 5"
BMGC_DS12593,BMG_DS041673,"Primary Lateral Sclerosis, Adult, 1 | primary lateral sclerosis, adult, 1"
BMGC_DS12594,BMG_DS041674,"Febrile Convulsions, Familial, 9 | familial febrile seizures 9"
BMGC_DS12595,BMG_DS041675,"Epilepsy, Familial Temporal Lobe, 4 | familial temporal lobe epilepsy 4"
BMGC_DS12596,BMG_DS041676,"Epilepsy, Familial Mesial Temporal Lobe | familial temporal lobe epilepsy 3"
BMGC_DS12597,BMG_DS041677,"Preauricular Tag, Isolated, Autosomal Dominant, 1 | preauricular tag, isolated, autosomal dominant, 1"
BMGC_DS12598,BMG_DS041678,"autism, susceptibility to, 1"
BMGC_DS12599,BMG_DS041679,congenital anomaly of kidney and urinary tract
BMGC_DS12600,BMG_DS041680,"CARDIOMYOPATHY, DILATED, 1X | dilated cardiomyopathy 1X"
BMGC_DS12601,BMG_DS041681,Lissencephaly 3 | lissencephaly 3 | lissencephaly type 3
BMGC_DS12602,BMG_DS041684,"Cataract, Autosomal Dominant, Multiple Types 1"
BMGC_DS12603,BMG_DS041685,"Renal Tubular Acidosis, Distal, With Hemolytic Anemia"
BMGC_DS12604,BMG_DS041686,"Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology"
BMGC_DS12605,BMG_DS041687,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | autosomal recessive limb-girdle muscular dystrophy type 2M"
BMGC_DS12606,BMG_DS041688,OTOSCLEROSIS 7 | otosclerosis 7
BMGC_DS12607,BMG_DS041689,OTOSCLEROSIS 4 | otosclerosis 4
BMGC_DS12608,BMG_DS041690,"MECKEL SYNDROME, TYPE 5 | Meckel syndrome, type 5"
BMGC_DS12609,BMG_DS041691,JOUBERT SYNDROME 7 | Joubert syndrome 7
BMGC_DS12610,BMG_DS041692,"Glycogen Storage Disease 0, Muscle | glycogen storage disease due to muscle and heart glycogen synthase deficiency"
BMGC_DS12611,BMG_DS041693,"Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies | renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies"
BMGC_DS12612,BMG_DS041694,LEOPARD SYNDROME 2 | LEOPARD syndrome 2
BMGC_DS12613,BMG_DS041695,Noonan Syndrome 5 | Noonan syndrome 5
BMGC_DS12614,BMG_DS041696,Premature Ovarian Failure 5 | premature ovarian failure 5
BMGC_DS12615,BMG_DS041697,"Cataract, Congenital Nuclear, Autosomal Recessive 3"
BMGC_DS12616,BMG_DS041698,familial cavitary optic disk anomaly
BMGC_DS12617,BMG_DS041700,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 | arrhythmogenic right ventricular dysplasia 12"
BMGC_DS12618,BMG_DS041701,Pontocerebellar Hypoplasia Type 6 | pontocerebellar hypoplasia type 6
BMGC_DS12619,BMG_DS041702,Tyrosine Kinase 2 Deficiency | immunodeficiency 35
BMGC_DS12620,BMG_DS041704,NEPHRONOPHTHISIS 7 | nephronophthisis 7
BMGC_DS12621,BMG_DS041705,"Osteopetrosis, Autosomal Recessive 6 | autosomal recessive osteopetrosis 6"
BMGC_DS12622,BMG_DS041706,"Atrial Fibrillation, Familial, 5 | atrial fibrillation, familial, 5"
BMGC_DS12623,BMG_DS041707,"Osteopetrosis, Autosomal Recessive 4 | autosomal recessive osteopetrosis 4"
BMGC_DS12624,BMG_DS041710,GALLBLADDER DISEASE 4
BMGC_DS12625,BMG_DS041711,"PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED"
BMGC_DS12626,BMG_DS041712,"Familial Primary Pulmonary Hypertension | Pulmonary Hypertension, Primary, Fenfluramine-Associated"
BMGC_DS12627,BMG_DS041714,Trifunctional Protein Deficiency With Myopathy And Neuropathy | mitochondrial trifunctional protein deficiency
BMGC_DS12628,BMG_DS041718,"intellectual disability, autosomal dominant 1"
BMGC_DS12629,BMG_DS041721,"DEAFNESS, AUTOSOMAL RECESSIVE 63 | autosomal recessive nonsyndromic hearing loss 63"
BMGC_DS12630,BMG_DS041722,Legius syndrome | NFLS - neurofibromatosis type 1-like syndrome | Neurofibromatosis type 1-like syndrome | Neurofibromatosis type 1-like syndrome (disorder)
BMGC_DS12631,BMG_DS041724,"Cardiomyopathy, Dilated, 1w | dilated cardiomyopathy 1W"
BMGC_DS12632,BMG_DS041726,"Cataract, Cortical, Juvenile-Onset"
BMGC_DS12633,BMG_DS041727,"Ataxia, Spastic, 3, Autosomal Recessive | spastic ataxia 3"
BMGC_DS12634,BMG_DS041730,"Macular Degeneration, Age-Related, 9 | age related macular degeneration 9"
BMGC_DS12635,BMG_DS041731,Brachydactyly type B2 | Brachydactyly type B2 (disorder) | brachydactyly type B2
BMGC_DS12636,BMG_DS041732,MUNGAN SYNDROME | Mungan syndrome
BMGC_DS12637,BMG_DS041733,lethal congenital contracture syndrome 3
BMGC_DS12638,BMG_DS041734,"MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 | juvenile myoclonic epilepsy 4 | myoclonic epilepsy, juvenile, susceptibility to, 4"
BMGC_DS12639,BMG_DS041735,Atrial Septal Defect 4 | atrial septal defect 4
BMGC_DS12640,BMG_DS041736,"autism, susceptibility to, 8"
BMGC_DS12641,BMG_DS041737,"Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | persistent hyperplastic primary vitreous, autosomal recessive"
BMGC_DS12642,BMG_DS041739,"Muscular Dystrophy, Limb-Girdle, Type 2L | autosomal recessive limb-girdle muscular dystrophy type 2L"
BMGC_DS12643,BMG_DS041740,"Ataxia, Spastic, 2, Autosomal Recessive | spastic ataxia 2"
BMGC_DS12644,BMG_DS041741,"Cernunnos-XLF deficiency | Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation"
BMGC_DS12645,BMG_DS041742,"Dystonia, Focal, Task-Specific | dystonia, focal, task-specific"
BMGC_DS12646,BMG_DS041743,Isobutyryl-CoA dehydrogenase deficiency | isobutyryl-CoA dehydrogenase deficiency
BMGC_DS12647,BMG_DS041744,"febrile seizures, familial, 8"
BMGC_DS12648,BMG_DS041745,"Glaucoma 1, Open Angle, H | obsolete glaucoma 1, open angle, H"
BMGC_DS12649,BMG_DS041749,"intellectual disability, FRA12A type"
BMGC_DS12650,BMG_DS041752,Asphyxiating Thoracic Dystrophy 2 | asphyxiating thoracic dystrophy 2
BMGC_DS12651,BMG_DS041753,"SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 32"
BMGC_DS12652,BMG_DS041755,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J | Charcot-Marie-Tooth disease type 4J"
BMGC_DS12653,BMG_DS041757,"restless legs syndrome, susceptibility to, 6"
BMGC_DS12654,BMG_DS041758,"COG8-congenital disorder of glycosylation | Congenital Disorder Of Glycosylation, Type IIH | congenital disorder of glycosylation type IIh"
BMGC_DS12655,BMG_DS041759,"Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility | craniofacial dysplasia - osteopenia syndrome"
BMGC_DS12656,BMG_DS041760,"malaria, susceptibility to"
BMGC_DS12657,BMG_DS041763,"Bpes, Type I, Autosomal Recessive"
BMGC_DS12658,BMG_DS041764,spastic ataxia 1
BMGC_DS12659,BMG_DS041765,AROMATASE EXCESS SYNDROME | aromatase excess syndrome
BMGC_DS12660,BMG_DS041768,"CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED | ankyrin-B-related cardiac arrhythmia | cardiac arrhythmia, ankyrin-B-related"
BMGC_DS12661,BMG_DS041769,"Angioma serpiginosum, autosomal dominant | angioma serpiginosum, autosomal dominant"
BMGC_DS12662,BMG_DS041774,Paroxysmal Nonkinesigenic Dyskinesia 2 | paroxysmal nonkinesigenic dyskinesia 2
BMGC_DS12663,BMG_DS041776,"MECKEL SYNDROME, TYPE 4 | Meckel syndrome, type 4"
BMGC_DS12664,BMG_DS041778,Retinitis Pigmentosa 37 | retinitis pigmentosa 37
BMGC_DS12665,BMG_DS041779,"Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of | nuclear type mitochondrial complex I deficiency 20"
BMGC_DS12666,BMG_DS041781,"intellectual disability, autosomal recessive 4"
BMGC_DS12667,BMG_DS041782,Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
BMGC_DS12668,BMG_DS041783,"Deafness, Sensorineural, And Male Infertility | deafness-infertility syndrome"
BMGC_DS12669,BMG_DS041785,"intellectual disability, autosomal recessive 11"
BMGC_DS12670,BMG_DS041786,"intellectual disability, autosomal recessive 10"
BMGC_DS12671,BMG_DS041787,"intellectual disability, autosomal recessive 9"
BMGC_DS12672,BMG_DS041788,"intellectual disability, autosomal recessive 7"
BMGC_DS12673,BMG_DS041789,"intellectual disability, autosomal recessive 6"
BMGC_DS12674,BMG_DS041790,"intellectual disability, autosomal recessive 5"
BMGC_DS12675,BMG_DS041791,"intellectual disability, autosomal recessive 12"
BMGC_DS12676,BMG_DS041792,"Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy | polyhydramnios, megalencephaly, and symptomatic epilepsy"
BMGC_DS12677,BMG_DS041793,Inflammatory Bowel Disease 10 | inflammatory bowel disease 10
BMGC_DS12678,BMG_DS041795,"Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | autosomal recessive distal hereditary motor neuronopathy 4 | neuronopathy, distal hereditary motor, autosomal recessive 4"
BMGC_DS12679,BMG_DS041796,"asthma-related traits, susceptibility to, 5"
BMGC_DS12680,BMG_DS041798,"Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen | isolated microphthalmia 5"
BMGC_DS12681,BMG_DS041799,"Microphthalmia, Isolated 3"
BMGC_DS12682,BMG_DS041800,Episodic Kinesigenic Dyskinesia 2 | episodic kinesigenic dyskinesia 2
BMGC_DS12683,BMG_DS041801,"DEAFNESS, AUTOSOMAL RECESSIVE, 24 | autosomal recessive nonsyndromic hearing loss 24"
BMGC_DS12684,BMG_DS041802,"autism, susceptibility to, 10"
BMGC_DS12685,BMG_DS041803,"autism, susceptibility to, 9"
BMGC_DS12686,BMG_DS041806,"prostate cancer, hereditary, 9"
BMGC_DS12687,BMG_DS041807,PSAT deficiency | Phosphoserine Aminotransferase Deficiency
BMGC_DS12688,BMG_DS041808,"leprosy, susceptibility to, 4"
BMGC_DS12689,BMG_DS041809,"Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | brain-lung-thyroid syndrome"
BMGC_DS12690,BMG_DS041810,Choreoathetosis And Congenital Hypothyroidism
BMGC_DS12691,BMG_DS041811,"Tooth Agenesis, Selective, 3 | tooth agenesis, selective, 3"
BMGC_DS12692,BMG_DS041812,"Progressive Familial Heart Block, Type Ib | progressive familial heart block type IB"
BMGC_DS12693,BMG_DS041813,"Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation | autosomal recessive proximal renal tubular acidosis"
BMGC_DS12694,BMG_DS041815,"Congenital Disorder Of Glycosylation, Type IIF | SLC35A1-congenital disorder of glycosylation | congenital disorder of glycosylation type IIf"
BMGC_DS12695,BMG_DS041816,"Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities"
BMGC_DS12696,BMG_DS041817,XFE Progeroid Syndrome | XFE progeroid syndrome
BMGC_DS12697,BMG_DS041818,PITT-HOPKINS SYNDROME | Pitt-Hopkins syndrome
BMGC_DS12698,BMG_DS041820,"Coronary Artery Disease, Autosomal Dominant 2 | coronary artery disease, autosomal dominant 2"
BMGC_DS12699,BMG_DS041821,"coronary heart disease, susceptibility to, 7"
BMGC_DS12700,BMG_DS041822,"systemic lupus erythematosus, susceptibility to, 9"
BMGC_DS12701,BMG_DS041823,"Surfactant Metabolism Dysfunction, Pulmonary, 3 | interstitial lung disease due to ABCA3 deficiency"
BMGC_DS12702,BMG_DS041824,"Osteogenesis imperfecta, type VIII | osteogenesis imperfecta type 8"
BMGC_DS12703,BMG_DS041826,"Surfactant Metabolism Dysfunction, Pulmonary, 2 | surfactant metabolism dysfunction, pulmonary, 2"
BMGC_DS12704,BMG_DS041827,"PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED | autoimmune pulmonary alveolar proteinosis"
BMGC_DS12705,BMG_DS041831,Branchio-Oto-Renal Syndrome | Branchiootorenal Syndrome 2 | branchiootorenal syndrome 2
BMGC_DS12706,BMG_DS041832,Vesicoureteral Reflux 2 | vesicoureteral reflux 2
BMGC_DS12707,BMG_DS041834,"CILIARY DYSKINESIA, PRIMARY, 6 | primary ciliary dyskinesia 6"
BMGC_DS12708,BMG_DS041837,multiple endocrine neoplasia type 4
BMGC_DS12709,BMG_DS041838,"Hirschsprung disease, susceptibility to, 5"
BMGC_DS12710,BMG_DS041839,"Tooth Agenesis, Selective, X-Linked, 1 | tooth agenesis, selective, X-linked, 1"
BMGC_DS12711,BMG_DS041842,"Fabry Disease, Cardiac Variant"
BMGC_DS12712,BMG_DS041843,"Mental Retardation, X-Linked, Syndromic 14 | syndromic X-linked intellectual disability 14"
BMGC_DS12713,BMG_DS041844,Phosphoribosylpyrophosphate Synthetase Superactivity | phosphoribosylpyrophosphate synthetase superactivity
BMGC_DS12714,BMG_DS041845,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 | intellectual disability, X-linked 93 | non-syndromic X-linked intellectual disability 93"
BMGC_DS12715,BMG_DS041846,Phosphoglycerate Kinase 1 Deficiency | glycogen storage disease due to phosphoglycerate kinase 1 deficiency | phosphoglycerate kinase 1 deficiency
BMGC_DS12716,BMG_DS041847,"Atypical Mycobacteriosis, Familial, X-Linked 2 | X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | immunodeficiency 34"
BMGC_DS12717,BMG_DS041848,IMMUNODEFICIENCY 33 | immunodeficiency 33
BMGC_DS12718,BMG_DS041859,Hypokalaemia | Hypokalaemic syndrome | Hypokalemia | Hypokalemia (disorder) | Hypokalemic syndrome | Hypopotassaemia | Hypopotassaemia syndrome | Hypopotassemia | Hypopotassemia syndrome | K deficiency | Potassium deficiency | Potassium depletion
BMGC_DS12719,BMG_DS041954,Chlamydia trachomatis genital infection | Chlamydia trachomatis infection of genital structure | Chlamydia trachomatis infection of genital structure (disorder)
BMGC_DS12720,BMG_DS041958,Left ventricular cardiac dysfunction | Left ventricular cardiac dysfunction (disorder)
BMGC_DS12721,BMG_DS041996,Osteomyelitis caused by Staphylococcus aureus | Osteomyelitis caused by Staphylococcus aureus (disorder)
BMGC_DS12722,BMG_DS042014,Citrin deficiency | Citrin deficiency (disorder) | SLC25A13 related citrin deficiency | Solute carrier family 25 member 13 related citrin deficiency | citrin deficiency
BMGC_DS12723,BMG_DS042157,Acid reflux | Esophageal reflux | Esophageal reflux (& [without mention of esophagitis]) | Esopheal reflux without mention of esophagitis | Gastro-esophageal reflux | Gastro-esophageal reflux disease without esophagitis | Gastro-oesophageal reflux | Gastro-oesophageal reflux disease without oesophagitis | Oesophageal reflux | Oesophageal reflux (& [without mention of oesophagitis]) | Oesophageal reflux (& [without mention of oesophagitis]) (disorder) | Oesopheal reflux without mention of oesophagitis
BMGC_DS12724,BMG_DS042159,Intestinal ischaemia | Intestinal ischemia | Ischaemic bowel disease | Ischaemic disease of gut | Ischemic bowel disease | Ischemic disease of gut | Vascular insufficiency of intestine | Vascular insufficiency of intestine (disorder) | Vascular insufficiency of the intestine | ischemic bowel disorder
BMGC_DS12725,BMG_DS042256,glycogen-rich clear cell breast carcinoma
BMGC_DS12726,BMG_DS042282,ovarian squamous cell carcinoma
BMGC_DS12727,BMG_DS042286,"Stickler syndrome type 1 | Stickler syndrome, type 1"
BMGC_DS12728,BMG_DS042308,Group B Streptococcal Infection | Streptococcal Infections | group B streptococcal infection
BMGC_DS12729,BMG_DS042349,diffuse large B-cell lymphoma of the central nervous system | primary diffuse large B-cell lymphoma of the central nervous system
BMGC_DS12730,BMG_DS042351,X-linked cerebral adrenoleukodystrophy
BMGC_DS12731,BMG_DS042352,Haemophilus Infections | Haemophilus influenzae Type b Infection | haemophilus infectious disease
BMGC_DS12732,BMG_DS042357,pancreatic vasoactive intestinal peptide producing tumor
BMGC_DS12733,BMG_DS042390,Mixed hyperlipidaemia | Mixed hyperlipidemia | Mixed hyperlipidemia (disorder) | Multiple-type hyperlipidaemia | Multiple-type hyperlipidemia
BMGC_DS12734,BMG_DS042400,indolent plasma cell myeloma
BMGC_DS12735,BMG_DS042403,pectus excavatum
BMGC_DS12736,BMG_DS042428,testicular germ cell tumor non-seminomatous | testicular non-seminomatous germ cell tumor
BMGC_DS12737,BMG_DS042432,congenital fibrinogen deficiency
BMGC_DS12738,BMG_DS042433,ACTH-independent macronodular adrenal hyperplasia | Cushing syndrome due to macronodular adrenal hyperplasia | Hypercortisolism due to macronodular adrenal hyperplasia | Hypercortisolism due to macronodular adrenal hyperplasia (disorder)
BMGC_DS12739,BMG_DS042442,Acute bacterial pyelonephritis | Acute pyelonephritis caused by bacterium | Acute pyelonephritis caused by bacterium (disorder)
BMGC_DS12740,BMG_DS042454,Acinetobacter pneumonia | Pneumonia caused by Acinetobacter | Pneumonia caused by Acinetobacter (disorder)
BMGC_DS12741,BMG_DS042466,mucinous cystadenocarcinoma of pancreas | pancreatic mucinous cystadenocarcinoma
BMGC_DS12742,BMG_DS042469,bile duct rhabdomyosarcoma | extrahepatic bile duct rhabdomyosarcoma
BMGC_DS12743,BMG_DS042584,"Pain, Postoperative | Postoperative Pain, Chronic"
BMGC_DS12744,BMG_DS042590,Influenza A (H1N1) | Influenza caused by Influenza A virus subtype H1N1 | Influenza caused by Influenza A virus subtype H1N1 (disorder) | Influenza due to Influenza A virus subtype H1N1
BMGC_DS12745,BMG_DS042724,tic disorder
BMGC_DS12746,BMG_DS042802,bile duct sarcoma | extrahepatic bile duct sarcoma
BMGC_DS12747,BMG_DS042808,ovarian small cell carcinoma
BMGC_DS12748,BMG_DS042926,"Brucellosis | Brucellosis, Pulmonary"
BMGC_DS12749,BMG_DS042978,hepatocellular carcinoma
BMGC_DS12750,BMG_DS042988,"DEAFNESS, AUTOSOMAL RECESSIVE 74 | autosomal recessive nonsyndromic hearing loss 74"
BMGC_DS12751,BMG_DS042994,Bone infection | Infection of bone | Infection of bone (disorder)
BMGC_DS12752,BMG_DS043002,Olfaction Disorders | Phantosmia
BMGC_DS12753,BMG_DS043004,oromandibular dystonia
BMGC_DS12754,BMG_DS043005,Cardio-Renal Syndrome | cardio-renal syndrome
BMGC_DS12755,BMG_DS043008,AD - Atopic dermatitis | Atopic dermatitis | Atopic dermatitis (disorder) | Atopic eczema | Atopic prurigo | Besnier prurigo | Besnier's prurigo | Besnier's prurigo (disorder) | Constitutional eczema | Disseminated neurodermatitis
BMGC_DS12756,BMG_DS043031,Follicular isthmus cyst | Isthmus catagen cyst | Keratinising cyst | Keratinizing cyst | Keratinous cyst | Pilar cyst | Sebaceous cyst | Sebaceous cyst (morphologic abnormality) | Steatocystoma | Steatoma | Trichilemmal cyst | Trichilemmal cyst (disorder) | Trichilemmal cyst (morphologic abnormality) | Wen | trichilemmal cyst
BMGC_DS12757,BMG_DS043032,bulimia nervosa
BMGC_DS12758,BMG_DS043035,Benign familial neutropaenia | Benign familial neutropenia | Chronic familial neutropaenia | Chronic familial neutropenia | Chronic familial neutropenia (disorder) | Chronic idiopathic neutropaenia | Chronic idiopathic neutropenia | Chronic idiopathic neutropenia (disorder) | Idiopathic agranulocytosis
BMGC_DS12759,BMG_DS043036,Muscle Hypotonia | Neonatal Hypotonia
BMGC_DS12760,BMG_DS043039,familial atypical multiple mole melanoma syndrome
BMGC_DS12761,BMG_DS043043,Paediatric failure to thrive | Pediatric failure to thrive | Pediatric failure to thrive (disorder)
BMGC_DS12762,BMG_DS043094,Cryopyrin-Associated Periodic Syndromes | cryopyrin-associated periodic syndrome
BMGC_DS12763,BMG_DS043123,CKD stage 5 | Chronic kidney disease stage 5 | Chronic kidney disease stage 5 (disorder) | end stage renal failure
BMGC_DS12764,BMG_DS043131,Fetal Pyelectasis | Pyelectasis
BMGC_DS12765,BMG_DS043157,microscopic polyangiitis
BMGC_DS12766,BMG_DS043159,Short Qt Syndrome | short QT syndrome
BMGC_DS12767,BMG_DS043161,Acute Anterior Wall Myocardial Infarction | Anterior Wall Myocardial Infarction
BMGC_DS12768,BMG_DS043172,Pneumonia caused by Staphylococcus aureus | Pneumonia caused by Staphylococcus aureus (disorder)
BMGC_DS12769,BMG_DS043203,"Bacterial folliculitis | Barbers' itch | Barbers' rash | Deep bacterial folliculitis | Dermatophytosis of beard | Folliculitis barbae | Mycotic sycosis | Pseudofolliculitis barbae | Sycosis barbae | Sycosis barbae, not parasitic | Sycosis vulgaris | Tinea barbae | Tinea barbae (disorder) | Tinea sycosis | tinea barbae"
BMGC_DS12770,BMG_DS043204,Croup | Viral Croup
BMGC_DS12771,BMG_DS043205,Croup | Postintubation Croup
BMGC_DS12772,BMG_DS043206,"Clinically Isolated Syndrome, CNS Demyelinating | Demyelinating Diseases"
BMGC_DS12773,BMG_DS043209,"Granuloma, Lethal Midline | Polymorphic Reticulosis"
BMGC_DS12774,BMG_DS043210,Nasal Obstruction | Unilateral Nasal Obstruction
BMGC_DS12775,BMG_DS043211,Bilateral Nasal Obstruction | Nasal Obstruction
BMGC_DS12776,BMG_DS043212,Antley-Bixler Syndrome Phenotype
BMGC_DS12777,BMG_DS043214,Lumbarsacral Spondylosis | Spondylosis
BMGC_DS12778,BMG_DS043215,"Osteoarthritis, Spine | osteoarthritis, spine"
BMGC_DS12779,BMG_DS043218,Chronic Lung Injury | Lung Injury
BMGC_DS12780,BMG_DS043228,Pulmonary Atelectasis | Resorption Pulmonary Atelectasis
BMGC_DS12781,BMG_DS043229,Contraction Pulmonary Atelectasis | Pulmonary Atelectasis
BMGC_DS12782,BMG_DS043230,Postoperative Pulmonary Atelectasis | Pulmonary Atelectasis
BMGC_DS12783,BMG_DS043231,Berylliosis | Beryllium Disease
BMGC_DS12784,BMG_DS043232,Bronchiolitis Obliterans | Constrictive Bronchiolitis
BMGC_DS12785,BMG_DS043233,"Bronchiolitis Obliterans | Bronchiolitis, Exudative"
BMGC_DS12786,BMG_DS043234,Focal Emphysema | Pulmonary Emphysema
BMGC_DS12787,BMG_DS043235,Pulmonary Eosinophilia | Tropical Eosinophilic Pneumonia
BMGC_DS12788,BMG_DS043236,"Bronchiolitis Obliterans | Bronchiolitis, Proliferative"
BMGC_DS12789,BMG_DS043242,Pediatric Obesity
BMGC_DS12790,BMG_DS043248,Familial hypophosphataemia | Familial hypophosphataemic bone disease | Familial hypophosphataemic osteomalacia | Familial hypophosphataemic rickets | Familial hypophosphatemia | Familial hypophosphatemic bone disease | Familial hypophosphatemic osteomalacia | Familial hypophosphatemic rickets | Familial vitamin D-resistant rickets | Familial x-linked hypophosphataemic vitamin D refractory rickets | Familial x-linked hypophosphatemic vitamin D refractory rickets | Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) | HPDR I - Hypophosphataemic vitamin D-resistant rickets | HPDR I - Hypophosphatemic vitamin D-resistant rickets | Hereditary hypophosphataemia | Hereditary hypophosphatemia | Vitamin D-resistant osteomalacia | Vitamin D-resistant rickets | Vitamin D-resistant rickets (disorder) | X-linked hypophosphataemic osteomalacia | X-linked hypophosphataemic rickets | X-linked hypophosphatemic osteomalacia | X-linked hypophosphatemic rickets | X-linked vitamin D-resistant rickets
BMGC_DS12791,BMG_DS043249,Familial hypophosphataemia | Familial hypophosphataemic bone disease | Familial hypophosphataemic osteomalacia | Familial hypophosphataemic rickets | Familial hypophosphatemia | Familial hypophosphatemic bone disease | Familial hypophosphatemic osteomalacia | Familial hypophosphatemic rickets | Familial vitamin D-resistant rickets | Familial x-linked hypophosphataemic vitamin D refractory rickets | Familial x-linked hypophosphatemic vitamin D refractory rickets | Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) | HPDR I - Hypophosphataemic vitamin D-resistant rickets | HPDR I - Hypophosphatemic vitamin D-resistant rickets | Hereditary hypophosphataemia | Hereditary hypophosphatemia | Vitamin D-resistant osteomalacia | Vitamin D-resistant rickets | X-linked hypophosphataemic osteomalacia | X-linked hypophosphataemic rickets | X-linked hypophosphatemic osteomalacia | X-linked hypophosphatemic rickets | X-linked vitamin D-resistant rickets
BMGC_DS12792,BMG_DS043251,"Benign Rolandic Epilepsy | Epilepsy, Rolandic"
BMGC_DS12793,BMG_DS043252,T-cell prolymphocytic leukemia
BMGC_DS12794,BMG_DS043256,Astigmatism | Myopic Astigmatism
BMGC_DS12795,BMG_DS043257,angiocentric glioma
BMGC_DS12796,BMG_DS043259,Chronic thromboembolic pulmonary hypertension | Thromboembolic pulmonary hypertension | Thromboembolic pulmonary hypertension (disorder)
BMGC_DS12797,BMG_DS043270,Systemic sclerosis [scleroderma]
BMGC_DS12798,BMG_DS043283,Hereditary protein S deficiency | Hereditary protein S deficiency (disorder) | hereditary thrombophilia due to congenital protein S deficiency
BMGC_DS12799,BMG_DS043284,"Thrombophilia, hereditary | inherited thrombophilia"
BMGC_DS12800,BMG_DS043296,Congenital hypofibrinogenaemia | Congenital hypofibrinogenemia | Congenital hypofibrinogenemia (disorder) | congenital afibrinogenemia
BMGC_DS12801,BMG_DS043308,Qualitative platelet defect | Qualitative platelet disorder | Qualitative platelet disorder (disorder) | Thromboasthenia
BMGC_DS12802,BMG_DS043340,Hereditary antithrombin III deficiency | Hereditary antithrombin III deficiency (disorder)
BMGC_DS12803,BMG_DS043352,AR - Allergic rhinitis | Allergic rhinitis | Allergic rhinitis (disorder) | Allergic rhinitis due to allergen | Atopic rhinitis | allergic rhinitis
BMGC_DS12804,BMG_DS043353,"Carney Complex | Carney Complex, Type 1 | Carney complex | Carney complex, type 1"
BMGC_DS12805,BMG_DS043356,"Unilateral deafness | Unilateral deafness (situation) | deafness, unilateral"
BMGC_DS12806,BMG_DS043358,Folliculitis decalvans | Folliculitis decalvans (disorder) | Folliculitis depilans | Quinquaud's folliculitis decalvans
BMGC_DS12807,BMG_DS043359,trilateral retinoblastoma
BMGC_DS12808,BMG_DS043360,hereditary renal cell carcinoma
BMGC_DS12809,BMG_DS043361,"Renal Hypoplasia, Isolated"
BMGC_DS12810,BMG_DS043362,"Cholestasis, benign recurrent intrahepatic 2 | benign recurrent intrahepatic cholestasis 2 | benign recurrent intrahepatic cholestasis type 2"
BMGC_DS12811,BMG_DS043363,"Epidermolysis Bullosa, Junctional, Localisata Variant | epidermolysis bullosa, junctional 4, intermediate"
BMGC_DS12812,BMG_DS043364,"neuronopathy, distal hereditary motor, type 2B"
BMGC_DS12813,BMG_DS043367,Antisynthetase syndrome | Antisynthetase syndrome (disorder) | antisynthetase syndrome
BMGC_DS12814,BMG_DS043369,Autoimmune Pancreatitis | autoimmune pancreatitis
BMGC_DS12815,BMG_DS043373,low phospholipid associated cholelithiasis
BMGC_DS12816,BMG_DS043377,acute kidney failure
BMGC_DS12817,BMG_DS043379,"Aortic Aneurysm, Familial Thoracic 6 | aortic aneurysm, familial thoracic 6"
BMGC_DS12818,BMG_DS043380,"Erythrocytosis, Familial, 4 | erythrocytosis, familial, 4"
BMGC_DS12819,BMG_DS043381,Brugada Syndrome 2 | Brugada syndrome 2
BMGC_DS12820,BMG_DS043382,"Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome"
BMGC_DS12821,BMG_DS043383,LIPOPROTEIN GLOMERULOPATHY | lipoprotein glomerulopathy
BMGC_DS12822,BMG_DS043384,Familial Cold Autoinflammatory Syndrome 2 | familial cold autoinflammatory syndrome 2
BMGC_DS12823,BMG_DS043386,Brain Tumor-Polyposis Syndrome 2
BMGC_DS12824,BMG_DS043387,progressive myoclonic epilepsy type 3 | progressive myoclonus epilepsy 3
BMGC_DS12825,BMG_DS043388,"KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | Krabbe disease due to saposin A deficiency"
BMGC_DS12826,BMG_DS043389,"Mucolipidosis III Alpha Beta, Atypical"
BMGC_DS12827,BMG_DS043390,Mucolipidosis II Alpha Beta | mucolipidosis type II
BMGC_DS12828,BMG_DS043391,"Hypophosphatasia, Perinatal Lethal | perinatal lethal hypophosphatasia"
BMGC_DS12829,BMG_DS043393,Hypergonadotropic Hypogonadism And Partial Alopecia | primary hypergonadotropic hypogonadism-partial alopecia syndrome
BMGC_DS12830,BMG_DS043394,"Leydig Cell Hypoplasia, Type II | Leydig cell hypoplasia"
BMGC_DS12831,BMG_DS043395,"microvascular complications of diabetes, susceptibility to, 7"
BMGC_DS12832,BMG_DS043396,"Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive | TH-deficient dopa-responsive dystonia"
BMGC_DS12833,BMG_DS043397,Combined Cellular And Humoral Immune Defects With Granulomas | combined cellular and humoral immune defects with granulomas | combined immunodeficiency with skin granulomas
BMGC_DS12834,BMG_DS043400,"Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant"
BMGC_DS12835,BMG_DS043401,"Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive"
BMGC_DS12836,BMG_DS043402,"Hypothyroidism, Congenital, Nongoitrous, 5 | hypothyroidism, congenital, nongoitrous, 5"
BMGC_DS12837,BMG_DS043404,Combined Saposin Deficiency | combined PSAP deficiency | combined saposin deficiency
BMGC_DS12838,BMG_DS043405,Combined Oxidative Phosphorylation Deficiency 5 | combined oxidative phosphorylation deficiency 5 | hypotonia with lactic acidemia and hyperammonemia
BMGC_DS12839,BMG_DS043406,"Hypomagnesemia 4, Renal | renal hypomagnesemia 4"
BMGC_DS12840,BMG_DS043407,"Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech | spondyloepiphyseal dysplasia, Cantu type | spondyloepiphyseal dysplasia-brachydactyly and distinctive speech"
BMGC_DS12841,BMG_DS043408,"migraine with or without aura, susceptibility to, 12"
BMGC_DS12842,BMG_DS043409,"Myopathy, Early-Onset, with Fatal Cardiomyopathy | early-onset myopathy with fatal cardiomyopathy"
BMGC_DS12843,BMG_DS043411,Dystonia with Cerebellar Atrophy | dystonia with cerebellar atrophy
BMGC_DS12844,BMG_DS043412,Dibasic Amino Aciduria I | hyperdibasic aminoaciduria type 1
BMGC_DS12845,BMG_DS043413,"Deafness, Autosomal Recessive 1A | autosomal recessive nonsyndromic hearing loss 1A"
BMGC_DS12846,BMG_DS043414,"Deafness, Digenic, Gjb2-Gjb6"
BMGC_DS12847,BMG_DS043415,"Deafness, Digenic, Gjb2-Gjb3"
BMGC_DS12848,BMG_DS043417,Ciliary Dyskinesia With Transposition Of Ciliary Microtubules | ciliary dyskinesia with transposition of ciliary microtubules
BMGC_DS12849,BMG_DS043418,BARDET-BIEDL SYNDROME 13 | Bardet-Biedl syndrome 13
BMGC_DS12850,BMG_DS043419,Bardet-Biedl Syndrome 14 | Bardet-Biedl syndrome 14
BMGC_DS12851,BMG_DS043420,renal-hepatic-pancreatic dysplasia
BMGC_DS12852,BMG_DS043421,Meckel syndrome 7 | NPHP3-related Meckel-like syndrome | Renal hepatic pancreatic dysplasia Dandy Walker cyst
BMGC_DS12853,BMG_DS043422,"Anemia, Hypochromic Microcytic, With Iron Overload | anemia, hypochromic microcytic with iron overload"
BMGC_DS12854,BMG_DS043423,"Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive"
BMGC_DS12855,BMG_DS043424,"Amelogenesis Imperfecta, Hypomaturation Type, Iia1 | amelogenesis imperfecta type 2A1"
BMGC_DS12856,BMG_DS043425,"Amelogenesis Imperfecta, Type Ic | amelogenesis imperfecta type 1C"
BMGC_DS12857,BMG_DS043426,foveal hypoplasia
BMGC_DS12858,BMG_DS043427,"Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma"
BMGC_DS12859,BMG_DS043428,R BINDER DEFICIENCY WITH LACTOFERRIN DEFICIENCY
BMGC_DS12860,BMG_DS043432,Inflammatory Bowel Disease 11 | inflammatory bowel disease 11
BMGC_DS12861,BMG_DS043435,SADDAN | severe achondroplasia-developmental delay-acanthosis nigricans syndrome
BMGC_DS12862,BMG_DS043436,"Spherocytosis, Type 1 | hereditary spherocytosis type 1"
BMGC_DS12863,BMG_DS043437,"SPHEROCYTOSIS, HEREDITARY, 2 | hereditary spherocytosis type 2"
BMGC_DS12864,BMG_DS043439,"Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber"
BMGC_DS12865,BMG_DS043440,"Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant | autosomal dominant thrombophilia due to protein C deficiency | thrombophilia due to protein C deficiency, autosomal dominant"
BMGC_DS12866,BMG_DS043444,"Seizures, intractable"
BMGC_DS12867,BMG_DS043447,Palmoplantar Hyperkeratosis And True Hermaphroditism
BMGC_DS12868,BMG_DS043448,"Aortic aneurysm, familial thoracic 3 | Loeys-Dietz syndrome 2"
BMGC_DS12869,BMG_DS043451,"microvascular complications of diabetes, susceptibility to, 5"
BMGC_DS12870,BMG_DS043453,"Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant | Osteoarthropathy, Primary Hypertrophic | hypertrophic osteoarthropathy, primary, autosomal dominant"
BMGC_DS12871,BMG_DS043454,"Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy | multicentric carpo-tarsal osteolysis with or without nephropathy | multicentric carpotarsal osteolysis syndrome"
BMGC_DS12872,BMG_DS043456,RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER | autoimmune lymphoproliferative syndrome type 4
BMGC_DS12873,BMG_DS043457,Myokymia 1
BMGC_DS12874,BMG_DS043458,Faciocardiomelic Syndrome | faciocardiomelic syndrome
BMGC_DS12875,BMG_DS043459,"alcohol sensitivity, acute"
BMGC_DS12876,BMG_DS043460,Chromosome 10q26 Deletion Syndrome | distal 10q deletion syndrome
BMGC_DS12877,BMG_DS043461,Chromosome 3q29 Deletion Syndrome | chromosome 3q29 microdeletion syndrome
BMGC_DS12878,BMG_DS043462,"Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant | dandy-walker malformation with occipital cephalocele, autosomal dominant"
BMGC_DS12879,BMG_DS043463,Mullerian Aplasia and Hyperandrogenism | Mullerian aplasia and hyperandrogenism | mullerian aplasia and hyperandrogenism
BMGC_DS12880,BMG_DS043465,Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
BMGC_DS12881,BMG_DS043468,"microvascular complications of diabetes, susceptibility to, 4"
BMGC_DS12882,BMG_DS043469,"microvascular complications of diabetes, susceptibility to, 6"
BMGC_DS12883,BMG_DS043470,"Hypospadias 3, Autosomal | hypospadias 3, autosomal"
BMGC_DS12884,BMG_DS043471,AGAT deficiency | Arginine:Glycine Amidinotransferase Deficiency
BMGC_DS12885,BMG_DS043472,"Myopia 15 | myopia 15, autosomal dominant"
BMGC_DS12886,BMG_DS043474,"Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis | pancreatic insufficiency-anemia-hyperostosis syndrome"
BMGC_DS12887,BMG_DS043475,Kahrizi Syndrome | Kahrizi syndrome
BMGC_DS12888,BMG_DS043476,LEBER CONGENITAL AMAUROSIS 13 | Leber congenital amaurosis 13
BMGC_DS12889,BMG_DS043477,"Microcephaly, Primary Autosomal Recessive, 7 | microcephaly 7, primary, autosomal recessive"
BMGC_DS12890,BMG_DS043479,"Polymicrogyria, Bilateral Occipital"
BMGC_DS12891,BMG_DS043480,"Spherocytosis, Type 5 | hereditary spherocytosis type 5"
BMGC_DS12892,BMG_DS043481,"PHARC syndrome | Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract"
BMGC_DS12893,BMG_DS043482,Cone-Rod Dystrophy 12 | cone-rod dystrophy 12
BMGC_DS12894,BMG_DS043483,"Episodic Ataxia, Type 6 | episodic ataxia type 6"
BMGC_DS12895,BMG_DS043484,"Spherocytosis, Type 4 | hereditary spherocytosis type 4"
BMGC_DS12896,BMG_DS043485,Endocrine-Cerebroosteodysplasia | endocrine-cerebro-osteodysplasia syndrome
BMGC_DS12897,BMG_DS043486,"CILIARY DYSKINESIA, PRIMARY, 12 | primary ciliary dyskinesia 12"
BMGC_DS12898,BMG_DS043487,"CILIARY DYSKINESIA, PRIMARY, 11 | primary ciliary dyskinesia 11"
BMGC_DS12899,BMG_DS043488,"Deafness, Autosomal Recessive 1b | autosomal recessive nonsyndromic hearing loss 1B"
BMGC_DS12900,BMG_DS043489,"Deafness, Autosomal Dominant 2B | autosomal dominant nonsyndromic hearing loss 2B"
BMGC_DS12901,BMG_DS043490,"Deafness, Autosomal Dominant 3B | autosomal dominant nonsyndromic hearing loss 3B"
BMGC_DS12902,BMG_DS043491,"Deafness, Autosomal Dominant 59 | autosomal dominant nonsyndromic hearing loss 59"
BMGC_DS12903,BMG_DS043492,Inflammatory Bowel Disease 26 | inflammatory bowel disease 26
BMGC_DS12904,BMG_DS043496,15q11q13 microduplication syndrome | Duplication 15q11-q13 Syndrome
BMGC_DS12905,BMG_DS043497,Chromosome 22q11.2 Microduplication Syndrome | chromosome 22q11.2 microduplication syndrome
BMGC_DS12906,BMG_DS043498,Capillary Malformation Without Arteriovenous Malformation
BMGC_DS12907,BMG_DS043499,plasma fibronectin deficiency
BMGC_DS12908,BMG_DS043500,Desmoid Tumor Caused By Somatic Mutation | desmoid tumor caused by somatic mutation
BMGC_DS12909,BMG_DS043502,"Adenylate Kinase Deficiency, Hemolytic Anemia Due To | hemolytic anemia due to adenylate kinase deficiency"
BMGC_DS12910,BMG_DS043504,Chromosome 15q26-Qter Deletion Syndrome | chromosome 15q26-qter deletion syndrome
BMGC_DS12911,BMG_DS043505,"microvascular complications of diabetes, susceptibility to, 3"
BMGC_DS12912,BMG_DS043506,"microvascular complications of diabetes, susceptibility to, 2"
BMGC_DS12913,BMG_DS043508,"intellectual disability, autosomal dominant 5"
BMGC_DS12914,BMG_DS043511,"multiple sclerosis, susceptibility to, 3"
BMGC_DS12915,BMG_DS043515,"colorectal cancer, susceptibility to, 10"
BMGC_DS12916,BMG_DS043520,Chromosome 6pter-P24 Deletion Syndrome | chromosome 6pter-p24 deletion syndrome
BMGC_DS12917,BMG_DS043521,"intellectual disability, autosomal dominant 4"
BMGC_DS12918,BMG_DS043522,"intellectual disability, autosomal dominant 3"
BMGC_DS12919,BMG_DS043523,AMYOTROPHIC LATERAL SCLEROSIS 11 | amyotrophic lateral sclerosis type 11
BMGC_DS12920,BMG_DS043524,"Split-Hand-Foot Malformation With Long Bone Deficiency 3 | chromosome 17P13.3, telomeric, duplication syndrome"
BMGC_DS12921,BMG_DS043525,Retinitis Pigmentosa 46 | retinitis pigmentosa 46
BMGC_DS12922,BMG_DS043527,"INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE | inflammatory bowel disease 25"
BMGC_DS12923,BMG_DS043528,Inflammatory Bowel Disease 24 | inflammatory bowel disease 24
BMGC_DS12924,BMG_DS043529,Diamond-Blackfan Anemia 8 | Diamond-Blackfan anemia 8
BMGC_DS12925,BMG_DS043530,Diamond-Blackfan Anemia 7 | Diamond-Blackfan anemia 7
BMGC_DS12926,BMG_DS043534,Adiponectin Deficiency
BMGC_DS12927,BMG_DS043535,Hypoadiponectinemia
BMGC_DS12928,BMG_DS043536,"breast-ovarian cancer, familial, susceptibility to, 2"
BMGC_DS12929,BMG_DS043539,"focal segmental glomerulosclerosis 4, susceptibility to"
BMGC_DS12930,BMG_DS043540,"Compton-North congenital myopathy | Myopathy, Congenital, Compton-North"
BMGC_DS12931,BMG_DS043541,"Spastic Paraplegia 42, Autosomal Dominant | hereditary spastic paraplegia 42"
BMGC_DS12932,BMG_DS043542,"lumbar disk degeneration, susceptibility to"
BMGC_DS12933,BMG_DS043543,"Retinitis Pigmentosa 7, Digenic"
BMGC_DS12934,BMG_DS043545,familial acute necrotizing encephalopathy
BMGC_DS12935,BMG_DS043547,osteoarthritis susceptibility 3
BMGC_DS12936,BMG_DS043549,"Niemann-Pick Disease, Intermediate, Protracted Neurovisceral"
BMGC_DS12937,BMG_DS043552,Dyschromatosis Universalis Hereditaria 1 | dyschromatosis universalis hereditaria 1
BMGC_DS12938,BMG_DS043553,"Deafness, Congenital, and Onychodystrophy, Autosomal Dominant | autosomal dominant deafness - onychodystrophy syndrome"
BMGC_DS12939,BMG_DS043554,"Craniodiaphyseal Dysplasia, Autosomal Dominant | craniodiaphyseal dysplasia, autosomal dominant"
BMGC_DS12940,BMG_DS043555,"Deafness, Autosomal Dominant 3A | autosomal dominant nonsyndromic hearing loss 3A"
BMGC_DS12941,BMG_DS043556,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 | epiphyseal dysplasia, multiple, 6 | multiple epiphyseal dysplasia 6"
BMGC_DS12942,BMG_DS043558,Holoprosencephaly 10 | chromosome 1q41-q42 deletion syndrome
BMGC_DS12943,BMG_DS043559,"Amelogenesis Imperfecta, Hypomaturation Type, Iia2 | amelogenesis imperfecta hypomaturation type 2A2"
BMGC_DS12944,BMG_DS043560,Diamond-Blackfan Anemia 5 | Diamond-Blackfan anemia 5
BMGC_DS12945,BMG_DS043561,Diamond-Blackfan Anemia 4 | Diamond-Blackfan anemia 4
BMGC_DS12946,BMG_DS043562,"Lipodystrophy, Congenital Generalized, Type 3 | congenital generalized lipodystrophy type 3"
BMGC_DS12947,BMG_DS043563,"Pyloric Stenosis, Infantile Hypertrophic, 5 | pyloric stenosis, infantile hypertrophic, 5"
BMGC_DS12948,BMG_DS043564,"Diabetes Mellitus, Insulin-Dependent, 22 | type 1 diabetes mellitus 22"
BMGC_DS12949,BMG_DS043566,"Diabetes Mellitus, Insulin-Dependent, 20 | type 1 diabetes mellitus 20"
BMGC_DS12950,BMG_DS043567,"CILIARY DYSKINESIA, PRIMARY, 10 | primary ciliary dyskinesia 10"
BMGC_DS12951,BMG_DS043568,Specific Language Impairment 4 | specific language impairment 4
BMGC_DS12952,BMG_DS043569,Chromosome 2p16.1-P15 Deletion Syndrome | chromosome 2p16.1-p15 deletion syndrome
BMGC_DS12953,BMG_DS043570,Chromosome 1q21.1 Duplication Syndrome | chromosome 1q21.1 duplication syndrome
BMGC_DS12954,BMG_DS043571,chromosome 1q21.1 deletion syndrome
BMGC_DS12955,BMG_DS043572,"Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome | Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome"
BMGC_DS12956,BMG_DS043573,"schizophrenia, susceptibility to"
BMGC_DS12957,BMG_DS043576,"Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant | hereditary hypercarotenemia and vitamin A deficiency"
BMGC_DS12958,BMG_DS043579,Diamond-Blackfan Anemia 1 | Diamond-Blackfan anemia 1
BMGC_DS12959,BMG_DS043581,familial isolated pituitary adenoma
BMGC_DS12960,BMG_DS043584,"Skeletal Defects, Genital Hypoplasia, And Mental Retardation | skeletal defects, genital hypoplasia, and intellectual disability"
BMGC_DS12961,BMG_DS043585,Complement Component 6 Deficiency | complement component 6 deficiency
BMGC_DS12962,BMG_DS043588,"CILIARY DYSKINESIA, PRIMARY, 9 | primary ciliary dyskinesia 9"
BMGC_DS12963,BMG_DS043589,"Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome"
BMGC_DS12964,BMG_DS043590,"Leukodystrophy, Hypomyelinating, 6 | hypomyelinating leukodystrophy 6"
BMGC_DS12965,BMG_DS043591,"Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia | epilepsy, progressive myoclonic, 1B"
BMGC_DS12966,BMG_DS043592,"Cardiomyopathy, Familial Restrictive, 3 | cardiomyopathy, familial restrictive, 3"
BMGC_DS12967,BMG_DS043595,"Dystonia 17, Torsion, Autosomal Recessive | torsion dystonia 17"
BMGC_DS12968,BMG_DS043596,"Bone Fragility with Contractures, Arterial Rupture, and Deafness | bone fragility with contractures, arterial rupture, and deafness"
BMGC_DS12969,BMG_DS043597,Pontocerebellar Hypoplasia Type 2C | pontocerebellar hypoplasia type 2C
BMGC_DS12970,BMG_DS043598,Pontocerebellar Hypoplasia Type 2B | pontocerebellar hypoplasia type 2B
BMGC_DS12971,BMG_DS043600,"sarcoidosis, susceptibility to, 2"
BMGC_DS12972,BMG_DS043601,Inflammatory Bowel Disease 23 | inflammatory bowel disease 23
BMGC_DS12973,BMG_DS043602,Inflammatory Bowel Disease 22 | inflammatory bowel disease 22
BMGC_DS12974,BMG_DS043604,Cowden syndrome 2 | Cowden-Like Syndrome
BMGC_DS12975,BMG_DS043605,Inflammatory Bowel Disease 21 | inflammatory bowel disease 21
BMGC_DS12976,BMG_DS043606,"Porokeratosis, Disseminated Superficial Actinic, 4 | porokeratosis 6, disseminated superficial actinic type"
BMGC_DS12977,BMG_DS043607,"Ehlers-Danlos syndrome, spondylocheirodysplastic type | Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like"
BMGC_DS12978,BMG_DS043608,"breast-ovarian cancer, familial, susceptibility to, 1"
BMGC_DS12979,BMG_DS043610,"Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator | thrombophilia due to decreased release of PLAT | thrombophilia, familial, due to decreased release of tissue plasminogen activator"
BMGC_DS12980,BMG_DS043612,Jervell And Lange-Nielsen Syndrome 2 | Jervell and Lange-Nielsen syndrome 2
BMGC_DS12981,BMG_DS043614,"Chromosome 1q43-Q44 Deletion Syndrome | intellectual disability, autosomal dominant 22"
BMGC_DS12982,BMG_DS043615,"Spastic Paraplegia 38, Autosomal Dominant | hereditary spastic paraplegia 38"
BMGC_DS12983,BMG_DS043616,Chromosome 2q32-Q33 Deletion Syndrome | SATB2-associated syndrome | chromosome 2q32-q33 deletion syndrome
BMGC_DS12984,BMG_DS043619,Premature Ovarian Failure 6 | premature ovarian failure 6
BMGC_DS12985,BMG_DS043620,"THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE | autosomal recessive thrombophilia due to protein C deficiency | thrombophilia due to protein C deficiency, autosomal recessive"
BMGC_DS12986,BMG_DS043621,"Osteopetrosis, Autosomal Recessive 7 | autosomal recessive osteopetrosis 7"
BMGC_DS12987,BMG_DS043622,CD59 Deficiency | primary CD59 deficiency
BMGC_DS12988,BMG_DS043624,Birk-Barel Mental Retardation Dysmorphism Syndrome | Birk-Barel syndrome
BMGC_DS12989,BMG_DS043625,Joubert Syndrome 8 | Joubert syndrome 8
BMGC_DS12990,BMG_DS043626,"Microtia, Hearing Impairment, And Cleft Palate | bilateral microtia-deafness-cleft palate syndrome"
BMGC_DS12991,BMG_DS043627,FONTAINE PROGEROID SYNDROME | Fontaine progeroid syndrome
BMGC_DS12992,BMG_DS043628,Inflammatory Bowel Disease 20 | inflammatory bowel disease 20
BMGC_DS12993,BMG_DS043629,"Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 | hypophosphatemic nephrolithiasis/osteoporosis 2"
BMGC_DS12994,BMG_DS043630,"Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 | hypophosphatemic nephrolithiasis/osteoporosis 1"
BMGC_DS12995,BMG_DS043631,Joubert Syndrome 9 | Joubert syndrome 9
BMGC_DS12996,BMG_DS043632,"Meckel Syndrome, Type 6 | Meckel syndrome, type 6"
BMGC_DS12997,BMG_DS043633,"microvascular complications of diabetes, susceptibility to, 1"
BMGC_DS12998,BMG_DS043634,"lumbar disk herniation, susceptibility to"
BMGC_DS12999,BMG_DS043635,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 | autosomal recessive congenital ichthyosis 6"
BMGC_DS13000,BMG_DS043637,Inflammatory Bowel Disease 19 | inflammatory bowel disease 19
BMGC_DS13001,BMG_DS043639,"epilepsy, childhood absence, susceptibility to, 5"
BMGC_DS13002,BMG_DS043641,Inflammatory Bowel Disease 18 | inflammatory bowel disease 18
BMGC_DS13003,BMG_DS043642,Inflammatory Bowel Disease 17 | inflammatory bowel disease 17
BMGC_DS13004,BMG_DS043643,MYD88 Deficiency | pyogenic bacterial infections due to MyD88 deficiency
BMGC_DS13005,BMG_DS043644,Inflammatory Bowel Disease 16 | inflammatory bowel disease 16
BMGC_DS13006,BMG_DS043645,Inflammatory Bowel Disease 15 | inflammatory bowel disease 15
BMGC_DS13007,BMG_DS043647,"systemic lupus erythematosus, susceptibility to, 11"
BMGC_DS13008,BMG_DS043648,"systemic lupus erythematosus, susceptibility to, 10"
BMGC_DS13009,BMG_DS043649,Crouzon syndrome-acanthosis nigricans syndrome
BMGC_DS13010,BMG_DS043650,Inflammatory Bowel Disease 14 | inflammatory bowel disease 14
BMGC_DS13011,BMG_DS043651,Inflammatory Bowel Disease 13 | inflammatory bowel disease 13
BMGC_DS13012,BMG_DS043653,Inflammatory Bowel Disease 12 | inflammatory bowel disease 12
BMGC_DS13013,BMG_DS043654,"Atrial Fibrillation, Familial, 7 | atrial fibrillation, familial, 7"
BMGC_DS13014,BMG_DS043657,"Leukodystrophy, Hypomyelinating, 4 | hypomyelinating leukodystrophy 4"
BMGC_DS13015,BMG_DS043658,"Leukodystrophy, hypomyelinating"
BMGC_DS13016,BMG_DS043662,"colorectal cancer, susceptibility to, 3"
BMGC_DS13017,BMG_DS043664,maturity-onset diabetes of the young type 9
BMGC_DS13018,BMG_DS043665,"Lymphedema, Cardiac Septal Defects, And Characteristic Facies | lymphedema-atrial septal defects-facial changes syndrome"
BMGC_DS13019,BMG_DS043668,"Atrial Fibrillation, Familial, 6 | atrial fibrillation, familial, 6"
BMGC_DS13020,BMG_DS043669,Coats plus syndrome
BMGC_DS13021,BMG_DS043670,Diastasis Recti And Weakness Of The Linea Alba | diastasis recti and weakness of the linea alba
BMGC_DS13022,BMG_DS043671,Retinitis Pigmentosa 29 | retinitis pigmentosa 29
BMGC_DS13023,BMG_DS043672,"Epileptic Encephalopathy, Early Infantile, 4 | developmental and epileptic encephalopathy, 4"
BMGC_DS13024,BMG_DS043675,"Cardiomyopathy, Dilated, 1AA | dilated cardiomyopathy 1AA"
BMGC_DS13025,BMG_DS043676,"Epidermolysis Bullosa Simplex With Pyloric Atresia | epidermolysis bullosa simplex 5C, with pyloric atresia"
BMGC_DS13026,BMG_DS043677,OROFACIAL CLEFT 11 | orofacial cleft 11
BMGC_DS13027,BMG_DS043678,"Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant | ectodermal dysplasia and immunodeficiency 2"
BMGC_DS13028,BMG_DS043679,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 | hypertrophic cardiomyopathy 12"
BMGC_DS13029,BMG_DS043680,Oculoauricular Syndrome | oculoauricular syndrome
BMGC_DS13030,BMG_DS043681,"autism, susceptibility to, 15"
BMGC_DS13031,BMG_DS043682,"Trichoepithelioma, Multiple Familial, 2 | trichoepithelioma, multiple familial, 2"
BMGC_DS13032,BMG_DS043683,"Cardiomyopathy, Familial Hypertrophic, 11 | hypertrophic cardiomyopathy 11"
BMGC_DS13033,BMG_DS043684,"Deafness, Unilateral, With Delayed Endolymphatic Hydrops | deafness, unilateral, with delayed endolymphatic hydrops"
BMGC_DS13034,BMG_DS043685,Otosclerosis 8 | otosclerosis 8
BMGC_DS13035,BMG_DS043686,Retinitis Pigmentosa 41 | retinitis pigmentosa 41
BMGC_DS13036,BMG_DS043687,Hypophosphatemic Rickets And Hyperparathyroidism | hypophosphatemic rickets and hyperparathyroidism
BMGC_DS13037,BMG_DS043688,"ANE syndrome | Alopecia, Neurologic Defects, and Endocrinopathy Syndrome | alopecia, neurologic defects, and endocrinopathy syndrome"
BMGC_DS13038,BMG_DS043689,"Hypouricemia, Renal, 2 | hypouricemia, renal, 2"
BMGC_DS13039,BMG_DS043690,Amyotrophic Lateral Sclerosis 10 | amyotrophic lateral sclerosis type 10
BMGC_DS13040,BMG_DS043691,dystonia 16
BMGC_DS13041,BMG_DS043693,"Spastic Paraplegia 39, Autosomal Recessive | hereditary spastic paraplegia 39"
BMGC_DS13042,BMG_DS043694,"Cataract, Juvenile, With Microcornea And Glucosuria"
BMGC_DS13043,BMG_DS043696,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 | autosomal recessive ataxia due to ubiquinone deficiency | primary coenzyme Q10 deficiency 4"
BMGC_DS13044,BMG_DS043697,"Congenital Disorder Of Glycosylation, Type In | RFT1-congenital disorder of glycosylation"
BMGC_DS13045,BMG_DS043698,"celiac disease, susceptibility to, 13"
BMGC_DS13046,BMG_DS043705,Thrombocytopenia 4 | thrombocytopenia 4
BMGC_DS13047,BMG_DS043706,Chromosome 15q13.3 Microdeletion Syndrome | chromosome 15q13.3 microdeletion syndrome
BMGC_DS13048,BMG_DS043707,SCHIZOPHRENIA 14 | schizophrenia 14
BMGC_DS13049,BMG_DS043708,"Deafness, Autosomal Dominant 2A | autosomal dominant nonsyndromic hearing loss 2A"
BMGC_DS13050,BMG_DS043709,"Rett Syndrome, Zappella Variant"
BMGC_DS13051,BMG_DS043711,Hunter-Macdonald Syndrome | Hunter-Macdonald syndrome
BMGC_DS13052,BMG_DS043712,Stevenson-Carey Syndrome | Stevenson-Carey syndrome
BMGC_DS13053,BMG_DS043713,"asthma-related traits, susceptibility to, 7"
BMGC_DS13054,BMG_DS043717,"Macular Degeneration, Age-Related, 11 | age related macular degeneration 11"
BMGC_DS13055,BMG_DS043720,RIDDLE syndrome | Riddle Syndrome
BMGC_DS13056,BMG_DS043721,"epilepsy, idiopathic generalized, susceptibility to, 6"
BMGC_DS13057,BMG_DS043722,catecholaminergic polymorphic ventricular tachycardia 2
BMGC_DS13058,BMG_DS043724,"Camptodactyly Syndrome, Guadalajara, Type III | camptodactyly syndrome, Guadalajara type 3"
BMGC_DS13059,BMG_DS043725,"prostate cancer, hereditary, 13"
BMGC_DS13060,BMG_DS043726,"Episodic Ataxia, Type 7 | episodic ataxia type 7"
BMGC_DS13061,BMG_DS043727,"Surfactant Metabolism Dysfunction, Pulmonary, 4 | surfactant metabolism dysfunction, pulmonary, 4"
BMGC_DS13062,BMG_DS043728,"Hypospadias 2, X-Linked | hypospadias 2, X-linked"
BMGC_DS13063,BMG_DS043730,"Protoporphyria, Erythropoietic, X-Linked Dominant | X-linked erythropoietic protoporphyria"
BMGC_DS13064,BMG_DS043731,"Spastic Paraplegia 34, X-Linked | hereditary spastic paraplegia 34"
BMGC_DS13065,BMG_DS043732,Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia | syndromic X-linked intellectual disability Najm type
BMGC_DS13066,BMG_DS043733,"Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities | deafness, cataract, retinitis pigmentosa, and sperm abnormalities"
BMGC_DS13067,BMG_DS043734,"Myopathy, Reducing Body, X-Linked, Childhood-Onset"
BMGC_DS13068,BMG_DS043735,"Myopathy, Reducing Body, X-Linked, Early-Onset, Severe"
BMGC_DS13069,BMG_DS043736,"intellectual disability, X-linked 95"
BMGC_DS13070,BMG_DS043737,Craniofacioskeletal Syndrome | X-linked intellectual disability-craniofacioskeletal syndrome
BMGC_DS13071,BMG_DS043740,syndromic X-linked intellectual disability Shrimpton type
BMGC_DS13072,BMG_DS043741,"TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS | syndactyly-telecanthus-anogenital and renal malformations syndrome"
BMGC_DS13073,BMG_DS043742,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | intellectual disability, X-linked syndromic, Turner type"
BMGC_DS13074,BMG_DS043744,"Spinocerebellar Ataxia, X-Linked 5 | X-linked non progressive cerebellar ataxia | X-linked spinocerebellar ataxia 5"
BMGC_DS13075,BMG_DS043745,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE | syndromic X-linked intellectual disability 94"
BMGC_DS13076,BMG_DS043746,"Myopathy, X-Linked, With Postural Muscle Atrophy | X-Linked Emery-Dreifuss Muscular Dystrophy | X-linked myopathy with postural muscle atrophy"
BMGC_DS13077,BMG_DS043747,"SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT | X-linked scapuloperoneal muscular dystrophy"
BMGC_DS13078,BMG_DS043748,Myofibrillar Myopathy | myofibrillar myopathy
BMGC_DS13079,BMG_DS043749,"Hypospadias 1, X-Linked | hypospadias 1, X-linked"
BMGC_DS13080,BMG_DS043750,Periventricular Laminar Heterotopia
BMGC_DS13081,BMG_DS043753,"Christianson syndrome | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE"
BMGC_DS13082,BMG_DS043754,"Mental Retardation, X-Linked, With Panhypopituitarism | intellectual disability, X-linked, with panhypopituitarism"
BMGC_DS13083,BMG_DS043756,"Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive | hypercarotenemia and vitamin A deficiency, autosomal recessive"
BMGC_DS13084,BMG_DS043757,Thrombocytopenia 3 | thrombocytopenia 3
BMGC_DS13085,BMG_DS043758,3M syndrome 1 | Three M Syndrome 1
BMGC_DS13086,BMG_DS043759,"Spherocytosis, Type 3 | hereditary spherocytosis type 3"
BMGC_DS13087,BMG_DS043761,"UV-induced skin damage, susceptibility to"
BMGC_DS13088,BMG_DS043762,"PITUITARY HORMONE DEFICIENCY, COMBINED, 4 | combined pituitary hormone deficiency 4 | short stature-pituitary and cerebellar defects-small sella turcica syndrome"
BMGC_DS13089,BMG_DS043764,"Hyperphenylalaninemia, Non-Pku Mild"
BMGC_DS13090,BMG_DS043765,CRANIOOSTEOARTHROPATHY | cranio-osteoarthropathy
BMGC_DS13091,BMG_DS043766,Nanophthalmos 3 | nanophthalmos 3
BMGC_DS13092,BMG_DS043767,Amyotrophic Lateral Sclerosis 9 | amyotrophic lateral sclerosis type 9
BMGC_DS13093,BMG_DS043770,Lethal Arthrogryposis With Anterior Horn Cell Disease
BMGC_DS13094,BMG_DS043772,"Ciliary Dyskinesia, Primary, 7 | primary ciliary dyskinesia 7"
BMGC_DS13095,BMG_DS043773,"Cardiomyopathy, Dilated, 2a | dilated cardiomyopathy 2A"
BMGC_DS13096,BMG_DS043774,"Cardiomyopathy, Dilated, 1z | dilated cardiomyopathy 1Z"
BMGC_DS13097,BMG_DS043775,"Cardiomyopathy, Dilated, 1y | dilated cardiomyopathy 1Y"
BMGC_DS13098,BMG_DS043776,Brugada Syndrome 4 | Brugada syndrome 4
BMGC_DS13099,BMG_DS043777,Brugada Syndrome 3 | Brugada syndrome 3
BMGC_DS13100,BMG_DS043778,"prostate cancer, hereditary, 12"
BMGC_DS13101,BMG_DS043779,"Chromosome 22q11.2 Deletion Syndrome, Distal | chromosome 22q11.2 deletion syndrome, distal"
BMGC_DS13102,BMG_DS043780,Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma | microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
BMGC_DS13103,BMG_DS043781,Long Qt Syndrome 11 | long QT syndrome 11
BMGC_DS13104,BMG_DS043782,Long Qt Syndrome 10 | long QT syndrome 10
BMGC_DS13105,BMG_DS043783,Long Qt Syndrome 9 | long QT syndrome 9
BMGC_DS13106,BMG_DS043784,Temple-Baraitser Syndrome | Temple-Baraitser syndrome
BMGC_DS13107,BMG_DS043785,"SERKAL syndrome | Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs"
BMGC_DS13108,BMG_DS043786,"Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus | tremor, hereditary essential, and idiopathic normal pressure hydrocephalus"
BMGC_DS13109,BMG_DS043787,Elliptocytosis 1 | elliptocytosis 1
BMGC_DS13110,BMG_DS043788,"AXENFELD-RIEGER SYNDROME, TYPE 3 | Axenfeld-Rieger syndrome type 3"
BMGC_DS13111,BMG_DS043789,"SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 43"
BMGC_DS13112,BMG_DS043790,"HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1"
BMGC_DS13113,BMG_DS043791,Retinitis Pigmentosa 2 | retinitis pigmentosa 2
BMGC_DS13114,BMG_DS043792,"aplastic anemia, susceptibility to"
BMGC_DS13115,BMG_DS043793,"sarcoidosis, susceptibility to, 1"
BMGC_DS13116,BMG_DS043794,"46,XY ovotesticular disorder of sex development"
BMGC_DS13117,BMG_DS043796,nevus flammeus of nape of neck
BMGC_DS13118,BMG_DS043797,Loeys-Dietz Syndrome | Loeys-Dietz syndrome
BMGC_DS13119,BMG_DS043798,B-lymphoblastic leukemia/lymphoma with hyperdiploidy
BMGC_DS13120,BMG_DS043799,B-lymphoblastic leukemia/lymphoma with hypodiploidy
BMGC_DS13121,BMG_DS043800,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
BMGC_DS13122,BMG_DS043801,B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)
BMGC_DS13123,BMG_DS043805,split hand
BMGC_DS13124,BMG_DS043807,synpolydactyly
BMGC_DS13125,BMG_DS043811,Waardenburg syndrome type 2
BMGC_DS13126,BMG_DS043812,"WAARDENBURG SYNDROME, TYPE IIE | Waardenburg syndrome type 2E"
BMGC_DS13127,BMG_DS043813,"scoliosis, isolated, susceptibility to, 1"
BMGC_DS13128,BMG_DS043814,"EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE | Ehlers-Danlos syndrome dermatosparaxis type | Ehlers-Danlos syndrome, dermatosparaxis type"
BMGC_DS13129,BMG_DS043815,"nephrolithiasis, uric acid, susceptibility to"
BMGC_DS13130,BMG_DS043816,major affective disorder 7
BMGC_DS13131,BMG_DS043819,Omenn Syndrome | Omenn syndrome | Severe Combined Immunodeficiency
BMGC_DS13132,BMG_DS043842,Influenza caused by Influenza A virus | Influenza caused by Influenza A virus (disorder)
BMGC_DS13133,BMG_DS043846,Fatty Liver | Steatohepatitis | Steatohepatitis (disorder) | fatty liver disease
BMGC_DS13134,BMG_DS043852,osteonecrosis of the jaw
BMGC_DS13135,BMG_DS043853,Ischaemic priapism | Ischemic priapism | Ischemic priapism (disorder) | Low flow priapism | Veno-occlusive priapism
BMGC_DS13136,BMG_DS043888,Combined immunodeficiency disease | Combined immunodeficiency disease (disorder) | combined T cell and B cell immunodeficiency | combined immunodeficiency
BMGC_DS13137,BMG_DS043890,Epilepsy characterised by intractable complex partial seizures | Epilepsy characterized by intractable complex partial seizures | Epilepsy characterized by intractable complex partial seizures (disorder)
BMGC_DS13138,BMG_DS043904,Lateral cystocele | Lateral cystocele (disorder) | lateral cystocele
BMGC_DS13139,BMG_DS043929,Gout attack
BMGC_DS13140,BMG_DS043934,"Arylsulfatase A Deficiency | Leukodystrophy, Metachromatic"
BMGC_DS13141,BMG_DS043935,Mucopolysaccharidosis I | alpha-L-Iduronidase Deficiency
BMGC_DS13142,BMG_DS043936,7-Dehydrocholesterol Reductase Deficiency | Smith-Lemli-Opitz Syndrome
BMGC_DS13143,BMG_DS043937,myelodysplastic syndrome
BMGC_DS13144,BMG_DS043938,"Oculocerebrorenal Syndrome | Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency"
BMGC_DS13145,BMG_DS043939,Haim-Monk Syndrome | Papillon-Lefevre Disease
BMGC_DS13146,BMG_DS043940,"Adenomatous Polyposis Coli | Polyposis, Adenomatous Intestinal | familial adenomatous polyposis 1"
BMGC_DS13147,BMG_DS043941,Adenomatous Polyposis Coli | Familial Intestinal Polyposis
BMGC_DS13148,BMG_DS043942,"Hyperpotassemia and Hypertension, Familial | Pseudohypoaldosteronism"
BMGC_DS13149,BMG_DS043943,Sandhoff Disease | Total Hexosaminidase Deficiency
BMGC_DS13150,BMG_DS043944,Bernard-Soulier Syndrome | Deficiency of Platelet Glycoprotein 1b
BMGC_DS13151,BMG_DS043945,Androgen Receptor Deficiency | Androgen-Insensitivity Syndrome
BMGC_DS13152,BMG_DS043949,Gray Platelet Syndrome | Platelet alpha-Granule Deficiency
BMGC_DS13153,BMG_DS043952,"Ichthyosis, X-Linked | Steroid Sulfatase Deficiency Disease"
BMGC_DS13154,BMG_DS043953,"Chemical and Drug Induced Liver Injury, Chronic | Drug-Induced Liver Injury, Chronic"
BMGC_DS13155,BMG_DS043954,Encapsulating Peritoneal Sclerosis | Peritoneal Fibrosis
BMGC_DS13156,BMG_DS043958,Propionic Acidemia | Propionic Aciduria | propionic acidemia
BMGC_DS13157,BMG_DS043959,"Autoimmune Lymphoproliferative Syndrome | Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant | autoimmune lymphoproliferative syndrome"
BMGC_DS13158,BMG_DS043960,Hereditary Angioedema Types I and II
BMGC_DS13159,BMG_DS043961,Hereditary Angioedema Type I | Hereditary Angioedema Types I and II | hereditary angioedema type 1
BMGC_DS13160,BMG_DS043962,Isolated Noncompaction of the Ventricular Myocardium
BMGC_DS13161,BMG_DS043966,Thrombotic Microangiopathies | thrombotic microangiopathy
BMGC_DS13162,BMG_DS043972,"Alcoholic Steatohepatitis | Fatty Liver, Alcoholic"
BMGC_DS13163,BMG_DS043973,"Gangliosidosis, GM1 | beta-Galactosidase Deficiency"
BMGC_DS13164,BMG_DS043974,"Deficiency of Uroporphyrinogen III Synthase | Porphyria, Erythropoietic"
BMGC_DS13165,BMG_DS043976,Mucopolysaccharidosis II | Sulfoiduronate Sulfatase Deficiency
BMGC_DS13166,BMG_DS043977,"Ichthyosis, X-Linked | Placental Steroid Sulfatase Deficiency"
BMGC_DS13167,BMG_DS043978,"ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | anemia, nonspherocytic hemolytic, due to G6PD deficiency | congenital nonspherocytic hemolytic anemia 1"
BMGC_DS13168,BMG_DS043979,Fibrosis of pleura | Fibrosis of pleura (disorder) | Pleural cuirasse | Pleural fibrosis | Pleural thickening | Thickening of pleura | Thickening of pleura (disorder)
BMGC_DS13169,BMG_DS043996,Auditory neuropathy spectrum disorder | Auditory neuropathy spectrum disorder (disorder) | Auditory neuropathy with dys-synchrony
BMGC_DS13170,BMG_DS044037,Cerebral Small Vessel Diseases
BMGC_DS13171,BMG_DS044060,Pulmonary Mycobacterium avium complex infection | Pulmonary Mycobacterium avium complex infection (disorder) | Pulmonary Mycobacterium avium-intracellulare infection
BMGC_DS13172,BMG_DS044061,Disorder of lumbar disc | Disorder of lumbar disc (disorder)
BMGC_DS13173,BMG_DS044069,Juvenile-Onset Vitelliform Macular Dystrophy | Vitelliform Macular Dystrophy | vitelliform macular dystrophy | vitelliform macular dystrophy 2
BMGC_DS13174,BMG_DS044070,"Hyaline Fibromatosis Syndrome | Hyalinosis, Systemic | hyaline fibromatosis syndrome | juvenile hyaline fibromatosis"
BMGC_DS13175,BMG_DS044071,Spondylometaphyseal dysplasia with dentinogenesis imperfecta | odontochondrodysplasia
BMGC_DS13176,BMG_DS044072,spondyloepiphyseal dysplasia congenita
BMGC_DS13177,BMG_DS044074,Kashin-Beck Disease | Kashin-Beck disease
BMGC_DS13178,BMG_DS044075,Fitzsimmons-McLachlan-Gilbert syndrome | paraplegia-intellectual disability-hyperkeratosis syndrome
BMGC_DS13179,BMG_DS044076,Joubert syndrome with orofaciodigital defect | OROFACIODIGITAL SYNDROME VI | orofaciodigital syndrome type 6
BMGC_DS13180,BMG_DS044077,2-Hydroxyglutaricaciduria | 2-hydroxyglutaric aciduria
BMGC_DS13181,BMG_DS044079,"Congenital idiopathic intestinal pseudoobstruction | intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked"
BMGC_DS13182,BMG_DS044080,Familial ectopia lentis | isolated ectopia lentis
BMGC_DS13183,BMG_DS044081,"Deafness, Autosomal Recessive 77 | autosomal recessive nonsyndromic hearing loss 77"
BMGC_DS13184,BMG_DS044083,Cronobacter Infections | Enterobacteriaceae Infections
BMGC_DS13185,BMG_DS044086,Sensorineural Deafness With Mild Renal Dysfunction
BMGC_DS13186,BMG_DS044088,"leishmaniasis, tegumentary, susceptibility to"
BMGC_DS13187,BMG_DS044089,"CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS | posterior amorphous corneal dystrophy"
BMGC_DS13188,BMG_DS044092,Orofacial Cleft 12 | orofacial cleft 12
BMGC_DS13189,BMG_DS044093,"restless legs syndrome, susceptibility to, 7"
BMGC_DS13190,BMG_DS044094,INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY | sterile multifocal osteomyelitis with periostitis and pustulosis
BMGC_DS13191,BMG_DS044096,"spondyloepimetaphyseal dysplasia, PAPSS2 type"
BMGC_DS13192,BMG_DS044098,Lumbar scoliosis
BMGC_DS13193,BMG_DS044099,"Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant | keratosis follicularis spinulosa decalvans, autosomal dominant"
BMGC_DS13194,BMG_DS044100,Hypotrichosis 5 | hypotrichosis 5
BMGC_DS13195,BMG_DS044101,"Leukocyte Adhesion Deficiency, Type III | leukocyte adhesion deficiency 3"
BMGC_DS13196,BMG_DS044102,Brugada Syndrome 5 | Brugada syndrome 5
BMGC_DS13197,BMG_DS044103,"Cardiac Conduction Defect, Nonspecific | conduction system disorder"
BMGC_DS13198,BMG_DS044104,"Spondyloepimetaphyseal Dysplasia, Aggrecan Type | spondyloepimetaphyseal dysplasia, aggrecan type"
BMGC_DS13199,BMG_DS044105,"question mark ears, isolated"
BMGC_DS13200,BMG_DS044106,Inflammatory Bowel Disease 27 | inflammatory bowel disease 27
BMGC_DS13201,BMG_DS044107,Atrial Septal Defect 5 | atrial septal defect 5
BMGC_DS13202,BMG_DS044108,"Deafness, Autosomal Recessive 71 | autosomal recessive nonsyndromic hearing loss 71"
BMGC_DS13203,BMG_DS044110,Immune dysfunction with T-cell inactivation due to calcium entry defect 2 | combined immunodeficiency due to STIM1 deficiency | immunodeficiency 10
BMGC_DS13204,BMG_DS044111,Immune dysfunction with T-cell inactivation due to calcium entry defect 1 | combined immunodeficiency due to ORAI1 deficiency | immunodeficiency 9
BMGC_DS13205,BMG_DS044112,"Isolated Growth Hormone Deficiency, Type IB | isolated growth hormone deficiency type IB"
BMGC_DS13206,BMG_DS044113,EAST syndrome | SeSAME syndrome
BMGC_DS13207,BMG_DS044115,Hypoglossia With Situs Inversus | isolated congenital hypoglossia/aglossia
BMGC_DS13208,BMG_DS044119,Mitchell-Riley Syndrome | hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
BMGC_DS13209,BMG_DS044121,"Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor | vitamin D-dependent rickets, type 2B"
BMGC_DS13210,BMG_DS044123,"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT | congenital fibrosis of the extraocular muscles 3A | fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement"
BMGC_DS13211,BMG_DS044124,"CARDIOMYOPATHY, INFANTILE HYPERTROPHIC | cardiomyopathy, infantile hypertrophic | infantile hypertrophic cardiomyopathy"
BMGC_DS13212,BMG_DS044125,"46,XX sex reversal 1 | Ovotesticular Disorders of Sex Development"
BMGC_DS13213,BMG_DS044126,"46,XY sex reversal 1 | 46,Xy Gonadal Dysgenesis, Complete, Sry-Related"
BMGC_DS13214,BMG_DS044127,"46,Xy True Hermaphroditism, Sry-Related"
BMGC_DS13215,BMG_DS044128,"Rett Syndrome, Atypical | atypical Rett syndrome"
BMGC_DS13216,BMG_DS044129,Otopalatodigital Spectrum Disorder | otopalatodigital syndrome spectrum disorder
BMGC_DS13217,BMG_DS044131,"Glycogen Storage Disease, Type IXA2 | glycogen storage disease IXa2"
BMGC_DS13218,BMG_DS044132,Chromosome Xq28 Duplication Syndrome | chromosome Xq28 duplication syndrome
BMGC_DS13219,BMG_DS044134,"Thrombophilia, X-Linked, Due To Factor Ix Defect | X-linked thrombophilia due to factor IX defect | thrombophilia, X-linked, due to factor 9 defect"
BMGC_DS13220,BMG_DS044135,Joubert Syndrome 10 | Joubert syndrome 10
BMGC_DS13221,BMG_DS044136,"intellectual disability, X-linked 97"
BMGC_DS13222,BMG_DS044137,Chromosome Xp11.23-P11.22 Duplication Syndrome | chromosome Xp11.23-p11.22 duplication syndrome
BMGC_DS13223,BMG_DS044138,"Corneal Dystrophy, Endothelial, X-Linked | X-linked endothelial corneal dystrophy"
BMGC_DS13224,BMG_DS044139,"Corneal Dystrophy, Lisch Epithelial | Lisch epithelial corneal dystrophy"
BMGC_DS13225,BMG_DS044140,"Emery-Dreifuss Muscular Dystrophy 6, X-Linked | Emery-Dreifuss muscular dystrophy 6, X-linked | X-Linked Emery-Dreifuss Muscular Dystrophy"
BMGC_DS13226,BMG_DS044141,"Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked | myopathy, congenital, with fiber-type disproportion, X-linked"
BMGC_DS13227,BMG_DS044142,"Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness | obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome"
BMGC_DS13228,BMG_DS044143,"Mineralocorticoid Deficiency, Isolated"
BMGC_DS13229,BMG_DS044144,"46,XX SEX REVERSAL 2 | 46,XX sex reversal 2"
BMGC_DS13230,BMG_DS044145,Vater Association With Macrocephaly And Ventriculomegaly
BMGC_DS13231,BMG_DS044146,"Gm2-Gangliosidosis, Variant B1"
BMGC_DS13232,BMG_DS044148,"Refsum Disease, Adult, 1"
BMGC_DS13233,BMG_DS044149,"Refsum Disease, Adult, 2 | peroxisome biogenesis disorder 9B"
BMGC_DS13234,BMG_DS044150,"Oculodentodigital Dysplasia, Autosomal Recessive | oculodentodigital dysplasia, autosomal recessive"
BMGC_DS13235,BMG_DS044151,"neuroblastoma, susceptibility to, 1"
BMGC_DS13236,BMG_DS044152,"MYOPIA 18, AUTOSOMAL RECESSIVE | myopia 18, autosomal recessive"
BMGC_DS13237,BMG_DS044154,"Methemoglobinemia, Type I"
BMGC_DS13238,BMG_DS044155,"Methemoglobinemia, Type Ii"
BMGC_DS13239,BMG_DS044156,"Nadh-Cytochrome B5 Reductase Deficiency, Type I"
BMGC_DS13240,BMG_DS044157,"Nadh-Cytochrome B5 Reductase Deficiency, Type Ii"
BMGC_DS13241,BMG_DS044159,"AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA"
BMGC_DS13242,BMG_DS044160,"hemolytic uremic syndrome, atypical, susceptibility to, 1"
BMGC_DS13243,BMG_DS044161,Motor axonal neuropathy
BMGC_DS13244,BMG_DS044163,"MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE | megaloblastic anemia, folate-responsive"
BMGC_DS13245,BMG_DS044164,Aicardi-Goutieres syndrome 5
BMGC_DS13246,BMG_DS044165,Split-Hand-Foot Malformation 6 | split hand-foot malformation 6
BMGC_DS13247,BMG_DS044167,"CYSTINOSIS, ATYPICAL NEPHROPATHIC"
BMGC_DS13248,BMG_DS044168,BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 | bronchiectasis 1 | bronchiectasis with or without elevated sweat chloride 1
BMGC_DS13249,BMG_DS044169,"Macrothrombocytopenia-Stomatocytosis, Mediterranean | sitosterolemia 1"
BMGC_DS13250,BMG_DS044172,MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) | mitochondrial DNA depletion syndrome 8a
BMGC_DS13251,BMG_DS044173,"Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related | mitochondrial DNA depletion syndrome 1 | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 8b"
BMGC_DS13252,BMG_DS044174,"Booth Haworth Dilling syndrome | Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) | Mitochondrial encephalomyopathy aminoacidopathy syndrome | mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria"
BMGC_DS13253,BMG_DS044175,"epilepsy, childhood absence, susceptibility to, 6"
BMGC_DS13254,BMG_DS044176,Chromosome 3q29 Duplication Syndrome | chromosome 3q29 microduplication syndrome
BMGC_DS13255,BMG_DS044178,"Spastic Paraplegia 18, Autosomal Recessive | hereditary spastic paraplegia 18"
BMGC_DS13256,BMG_DS044179,"thyrotoxic periodic paralysis, susceptibility to, 1"
BMGC_DS13257,BMG_DS044180,Growth Hormone Deficiency With Pituitary Anomalies
BMGC_DS13258,BMG_DS044182,"Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive | Emery-Dreifuss muscular dystrophy 3, autosomal recessive"
BMGC_DS13259,BMG_DS044184,"Hypokalemic Periodic Paralysis, Type 2 | hypokalemic periodic paralysis, type 2"
BMGC_DS13260,BMG_DS044185,Leber Congenital Amaurosis 14 | Leber congenital amaurosis 14
BMGC_DS13261,BMG_DS044186,"Leber congenital amaurosis 14 | Retinal Dystrophy, Early-Onset Severe, Lrat-Related"
BMGC_DS13262,BMG_DS044187,"RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED"
BMGC_DS13263,BMG_DS044188,Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | spondylo-megaepiphyseal-metaphyseal dysplasia
BMGC_DS13264,BMG_DS044189,Plasminogen Activator Inhibitor-1 Deficiency | congenital plasminogen activator inhibitor type 1 deficiency
BMGC_DS13265,BMG_DS044190,Roifman-Chitayat Syndrome | combined immunodeficiency with faciooculoskeletal anomalies
BMGC_DS13266,BMG_DS044191,"Lipodystrophy, Congenital Generalized, Type 4 | congenital generalized lipodystrophy type 4"
BMGC_DS13267,BMG_DS044192,Rhabdoid Tumor Predisposition Syndrome 2 | rhabdoid tumor predisposition syndrome 2
BMGC_DS13268,BMG_DS044193,"Chondrodysplasia, Megarbane-Dagher-Melki Type | autosomal recessive spondylometaphyseal dysplasia, Megarbane type"
BMGC_DS13269,BMG_DS044194,Miyoshi Muscular Dystrophy 3 | Miyoshi muscular dystrophy 3
BMGC_DS13270,BMG_DS044195,Miyoshi Muscular Dystrophy 2 | Miyoshi muscular dystrophy 2
BMGC_DS13271,BMG_DS044196,"Hypophosphatemic Rickets, Autosomal Recessive, 2 | hypophosphatemic rickets, autosomal recessive, 2"
BMGC_DS13272,BMG_DS044197,Exudative Vitreoretinopathy 5 | exudative vitreoretinopathy 5
BMGC_DS13273,BMG_DS044198,Diamond-Blackfan Anemia 10 | Diamond-Blackfan anemia 10
BMGC_DS13274,BMG_DS044199,Diamond-Blackfan Anemia 9 | Diamond-Blackfan anemia 9
BMGC_DS13275,BMG_DS044200,"Deafness, Autosomal Recessive 79 | autosomal recessive nonsyndromic hearing loss 79"
BMGC_DS13276,BMG_DS044201,"Bile Acid Malabsorption, Primary"
BMGC_DS13277,BMG_DS044203,"Charcot-Marie-Tooth Disease, Axonal, Type 2n | Charcot-Marie-Tooth disease axonal type 2N"
BMGC_DS13278,BMG_DS044204,"Cardiomyopathy, Dilated, 1FF | dilated cardiomyopathy 1FF"
BMGC_DS13279,BMG_DS044205,"herpes simplex encephalitis, susceptibility to, 1"
BMGC_DS13280,BMG_DS044206,Karak Syndrome
BMGC_DS13281,BMG_DS044207,"CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 | cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2"
BMGC_DS13282,BMG_DS044208,Pitt-Hopkins-Like Syndrome 1 | cortical dysplasia-focal epilepsy syndrome
BMGC_DS13283,BMG_DS044210,"Progeria Syndrome, Childhood-Onset"
BMGC_DS13284,BMG_DS044211,Oculootodental syndrome | Oculootodental syndrome (disorder) | oculootodental syndrome
BMGC_DS13285,BMG_DS044212,Autosomal dominant omodysplasia | Autosomal dominant omodysplasia (disorder) | Omodysplasia 2 | autosomal dominant omodysplasia | omodysplasia 2
BMGC_DS13286,BMG_DS044213,"Fibrosis of Extraocular Muscles, Congenital, 3C | fibrosis of extraocular muscles, congenital, 3c"
BMGC_DS13287,BMG_DS044214,"Cap Myopathy, Tpm2-Related | nemaline myopathy 4"
BMGC_DS13288,BMG_DS044215,"Cap Myopathy, Tpm3-Related | nemaline myopathy 1"
BMGC_DS13289,BMG_DS044216,BNAR syndrome | Bifid Nose With Or Without Anorectal And Renal Anomalies
BMGC_DS13290,BMG_DS044217,NAFLD1
BMGC_DS13291,BMG_DS044218,Hypermanganesemia with Dystonia Polycythemia and Cirrhosis | cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
BMGC_DS13292,BMG_DS044220,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 | corneal dystrophy, Fuchs endothelial, 6"
BMGC_DS13293,BMG_DS044222,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 | corneal dystrophy, Fuchs endothelial, 4"
BMGC_DS13294,BMG_DS044223,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 | corneal dystrophy, Fuchs endothelial, 3"
BMGC_DS13295,BMG_DS044224,"Waardenburg Syndrome, Type 4c | Waardenburg syndrome type 4C"
BMGC_DS13296,BMG_DS044225,"Waardenburg Syndrome, Type 4b | Waardenburg syndrome type 4B"
BMGC_DS13297,BMG_DS044226,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 | hypertrophic cardiomyopathy 15"
BMGC_DS13298,BMG_DS044227,"Cardiomyopathy, Dilated, 1EE | dilated cardiomyopathy 1EE"
BMGC_DS13299,BMG_DS044228,"Cardiomyopathy, Familial Hypertrophic, 14 | hypertrophic cardiomyopathy 14"
BMGC_DS13300,BMG_DS044229,"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 | Lynch syndrome 8 | hereditary nonpolyposis colorectal cancer type 8"
BMGC_DS13301,BMG_DS044230,"Cardiomyopathy, Familial Hypertrophic, 13 | hypertrophic cardiomyopathy 13"
BMGC_DS13302,BMG_DS044231,"thyrotoxic periodic paralysis, susceptibility to, 2"
BMGC_DS13303,BMG_DS044233,Focal Segmental Glomerulosclerosis 5 | focal segmental glomerulosclerosis 5
BMGC_DS13304,BMG_DS044234,"factor XIII, b subunit, deficiency of"
BMGC_DS13305,BMG_DS044235,"Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 | autosomal recessive spinocerebellar ataxia 34 | cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3"
BMGC_DS13306,BMG_DS044236,"Factor Xiii, A Subunit, Deficiency Of | factor XIII, A subunit, deficiency of"
BMGC_DS13307,BMG_DS044237,"nasopharyngeal carcinoma, susceptibility to, 2"
BMGC_DS13308,BMG_DS044238,Cone-Rod Dystrophy 13 | cone-rod dystrophy 13
BMGC_DS13309,BMG_DS044239,"Amyotrophic Lateral Sclerosis 6, Autosomal Recessive"
BMGC_DS13310,BMG_DS044240,Noonan Syndrome 6 | Noonan syndrome 6
BMGC_DS13311,BMG_DS044241,"leprosy, susceptibility to, 5"
BMGC_DS13312,BMG_DS044242,"DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | congenital diarrhea 5 with tufting enteropathy"
BMGC_DS13313,BMG_DS044244,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C | congenital stationary night blindness 1C"
BMGC_DS13314,BMG_DS044246,"Amelogenesis Imperfecta, Hypomaturation Type, Iia3 | amelogenesis imperfecta hypomaturation type 2A3"
BMGC_DS13315,BMG_DS044248,"Spastic Paraplegia 44, Autosomal Recessive | hereditary spastic paraplegia 44"
BMGC_DS13316,BMG_DS044249,"Muscular Dystrophy, Congenital, Lmna-Related | congenital muscular dystrophy due to LMNA mutation"
BMGC_DS13317,BMG_DS044250,"Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | congenital muscular dystrophy due to integrin alpha-7 deficiency"
BMGC_DS13318,BMG_DS044251,"Weill-Marchesani 4 syndrome, recessive | Weill-Marchesani-Like Syndrome"
BMGC_DS13319,BMG_DS044252,"Retinitis Pigmentosa, Concentric | retinitis pigmentosa 50"
BMGC_DS13320,BMG_DS044253,"CILIARY DYSKINESIA, PRIMARY, 13 | primary ciliary dyskinesia 13"
BMGC_DS13321,BMG_DS044254,"intellectual disability, autosomal recessive 13"
BMGC_DS13322,BMG_DS044255,Polymicrogyria With Optic Nerve Hypoplasia | polymicrogyria with optic nerve hypoplasia
BMGC_DS13323,BMG_DS044256,"Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities | autosomal recessive cutis laxa type IC | cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"
BMGC_DS13324,BMG_DS044257,Chromosome 5p13 Duplication Syndrome | chromosome 5p13 duplication syndrome
BMGC_DS13325,BMG_DS044258,Marie Unna Hereditary Hypotrichosis 1 | hypotrichosis 4
BMGC_DS13326,BMG_DS044259,"Dystransthyretinemic Euthyroidal Hyperthyroxinemia | hyperthyroxinemia, dystransthyretinemic"
BMGC_DS13327,BMG_DS044260,glioma susceptibility 1
BMGC_DS13328,BMG_DS044261,"epilepsy, idiopathic generalized, susceptibility to, 9"
BMGC_DS13329,BMG_DS044262,"epilepsy, juvenile myoclonic, susceptibility to, 6"
BMGC_DS13330,BMG_DS044263,"epilepsy, juvenile absence, susceptibility to, 1"
BMGC_DS13331,BMG_DS044264,"epilepsy, idiopathic generalized, susceptibility to, 11"
BMGC_DS13332,BMG_DS044266,"Cardiomyopathy, Dilated, 1DD | dilated cardiomyopathy 1DD"
BMGC_DS13333,BMG_DS044268,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 | muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | muscular dystrophy-dystroglycanopathy type B4"
BMGC_DS13334,BMG_DS044269,"INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE | inflammatory bowel disease 28"
BMGC_DS13335,BMG_DS044271,"Choroidal Dystrophy, Central Areolar 3 | choroidal dystrophy, central areolar, 3"
BMGC_DS13336,BMG_DS044272,"Parkinsonism-Dystonia, Infantile | classic dopamine transporter deficiency syndrome | parkinsonism-dystonia, infantile"
BMGC_DS13337,BMG_DS044274,Brugada Syndrome 8 | Brugada syndrome 8
BMGC_DS13338,BMG_DS044275,"Cardiomyopathy, Dilated, 1CC | dilated cardiomyopathy 1CC"
BMGC_DS13339,BMG_DS044276,Brugada Syndrome 7 | Brugada syndrome 7
BMGC_DS13340,BMG_DS044277,Brugada Syndrome 6 | Brugada syndrome 6
BMGC_DS13341,BMG_DS044278,Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency | hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | thrombophilia due to HRG deficiency
BMGC_DS13342,BMG_DS044279,Thrombophilia Due To Elevated Histidine-Rich Glycoprotein
BMGC_DS13343,BMG_DS044280,"Neuropathy, Hereditary Sensory And Autonomic, Type IIB | neuropathy, hereditary sensory and autonomic, type 2B"
BMGC_DS13344,BMG_DS044281,"Fibrosis of Extraocular Muscles, Congenital, 3B | fibrosis of extraocular muscles, congenital, 3b"
BMGC_DS13345,BMG_DS044284,"Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related"
BMGC_DS13346,BMG_DS044285,Macrothrombocytopenia
BMGC_DS13347,BMG_DS044286,"Neutropenia, Severe Congenital, Autosomal Dominant 2 | neutropenia, severe congenital, 2, autosomal dominant"
BMGC_DS13348,BMG_DS044288,"CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 | choroidal dystrophy, central areolar 2"
BMGC_DS13349,BMG_DS044289,Hypotrichosis And Recurrent Skin Vesicles | hereditary hypotrichosis with recurrent skin vesicles
BMGC_DS13350,BMG_DS044290,familial hemophagocytic lymphohistiocytosis 5
BMGC_DS13351,BMG_DS044291,"GLAUCOMA 1, OPEN ANGLE, O | glaucoma 1, open angle, O"
BMGC_DS13352,BMG_DS044292,"melanoma, cutaneous malignant, susceptibility to, 5"
BMGC_DS13353,BMG_DS044293,"INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC"
BMGC_DS13354,BMG_DS044294,"Tooth Agenesis, Selective, 6"
BMGC_DS13355,BMG_DS044295,polycystic kidney disease 2
BMGC_DS13356,BMG_DS044296,"Microphthalmia, Isolated 4 | isolated microphthalmia 4"
BMGC_DS13357,BMG_DS044297,Cone Dystrophy 4 | cone dystrophy 4
BMGC_DS13358,BMG_DS044298,Achromatopsia 5 | achromatopsia 5
BMGC_DS13359,BMG_DS044299,"Hyperuricemic Nephropathy, Familial Juvenile 2 | familial juvenile hyperuricemic nephropathy type 2"
BMGC_DS13360,BMG_DS044301,CLAPO Syndrome | CLAPO syndrome
BMGC_DS13361,BMG_DS044303,atrial septal defect 6
BMGC_DS13362,BMG_DS044304,"Glaucoma 3, Primary Congenital, D | glaucoma 3, primary congenital, D"
BMGC_DS13363,BMG_DS044305,"46, XY Sex Reversal 5 | 46,XY sex reversal 5"
BMGC_DS13364,BMG_DS044306,Nijmegen Breakage Syndrome-Like Disorder | Nijmegen breakage syndrome-like disorder
BMGC_DS13365,BMG_DS044307,"Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5"
BMGC_DS13366,BMG_DS044308,"Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay | congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"
BMGC_DS13367,BMG_DS044309,"Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | RIN2 syndrome"
BMGC_DS13368,BMG_DS044310,Metaphyseal Anadysplasia 2 | metaphyseal anadysplasia 2
BMGC_DS13369,BMG_DS044311,BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 | bronchiectasis 3 | bronchiectasis with or without elevated sweat chloride 3
BMGC_DS13370,BMG_DS044312,"46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy"
BMGC_DS13371,BMG_DS044313,"PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN"
BMGC_DS13372,BMG_DS044314,"cardiomyopathy, familial hypertrophic, 4, susceptibility to"
BMGC_DS13373,BMG_DS044315,"CANDIDIASIS, FAMILIAL, 1 | candidiasis, familial, 1"
BMGC_DS13374,BMG_DS044316,Camptodactyly 1 | camptodactyly of fingers
BMGC_DS13375,BMG_DS044317,"Bifid Nose, Autosomal Dominant | bifid nose, autosomal dominant"
BMGC_DS13376,BMG_DS044318,"amyloidosis, hereditary systemic 1"
BMGC_DS13377,BMG_DS044319,"Cerebral Amyloid Angiopathy, Gsn-Related"
BMGC_DS13378,BMG_DS044320,"ABeta amyloidosis, Arctic type | APP-related cerebral amyloid angiopathy | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT"
BMGC_DS13379,BMG_DS044321,3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
BMGC_DS13380,BMG_DS044322,"Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet | platelet-type bleeding disorder 12"
BMGC_DS13381,BMG_DS044323,"APP-related cerebral amyloid angiopathy | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED | cerebral amyloid angiopathy, APP-related"
BMGC_DS13382,BMG_DS044324,"basal cell carcinoma, susceptibility to, 1"
BMGC_DS13383,BMG_DS044325,Neurodegeneration Due To Cerebral Folate Transport Deficiency | neurodegenerative syndrome due to cerebral folate transport deficiency
BMGC_DS13384,BMG_DS044326,"leukemia, acute lymphocytic, susceptibility to, 2"
BMGC_DS13385,BMG_DS044327,"leukemia, acute lymphocytic, susceptibility to, 1"
BMGC_DS13386,BMG_DS044332,"epilepsy, idiopathic generalized, susceptibility to, 10"
BMGC_DS13387,BMG_DS044335,"Atrial Fibrillation, Familial, 8 | atrial fibrillation, familial, 8"
BMGC_DS13388,BMG_DS044336,"Pituitary Hormone Deficiency, Combined, 1 | pituitary hormone deficiency, combined, 1"
BMGC_DS13389,BMG_DS044338,Dursun Syndrome | autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
BMGC_DS13390,BMG_DS044343,glioma susceptibility 3
BMGC_DS13391,BMG_DS044344,glioma susceptibility 2
BMGC_DS13392,BMG_DS044345,Glycogen Storage Disease IXC | glycogen storage disease IXc
BMGC_DS13393,BMG_DS044348,SCHIZOPHRENIA 13 | schizophrenia 13
BMGC_DS13394,BMG_DS044349,"follicular lymphoma, susceptibility to, 1"
BMGC_DS13395,BMG_DS044350,BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 | bronchiectasis 2 | bronchiectasis with or without elevated sweat chloride 2
BMGC_DS13396,BMG_DS044354,"neuroblastoma, susceptibility to, 3"
BMGC_DS13397,BMG_DS044355,"neuroblastoma, susceptibility to, 2"
BMGC_DS13398,BMG_DS044357,"Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1"
BMGC_DS13399,BMG_DS044361,Santos Syndrome | Santos syndrome
BMGC_DS13400,BMG_DS044362,"epilepsy, idiopathic generalized, susceptibility to, 7"
BMGC_DS13401,BMG_DS044363,"Febrile Convulsions, Familial, 3a | febrile seizures, familial, 3a"
BMGC_DS13402,BMG_DS044364,"Leber congenital amaurosis 4 | Retinitis Pigmentosa, Juvenile, Aipl1-Related"
BMGC_DS13403,BMG_DS044365,"Cone-Rod Dystrophy, Aipl1-Related | Leber congenital amaurosis 4"
BMGC_DS13404,BMG_DS044366,"Generalized Epilepsy With Febrile Seizures Plus, 7 | generalized epilepsy with febrile seizures plus 7 | generalized epilepsy with febrile seizures plus, type 7"
BMGC_DS13405,BMG_DS044367,"Leber congenital amaurosis 3 | Retinitis Pigmentosa, Juvenile, SPATA7-Related"
BMGC_DS13406,BMG_DS044368,"attention deficit-hyperactivity disorder, susceptibility to, 7"
BMGC_DS13407,BMG_DS044369,"IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS | immunodeficiency 83, susceptibility to viral infections"
BMGC_DS13408,BMG_DS044370,"EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | autosomal dominant Emery-Dreifuss muscular dystrophy 5"
BMGC_DS13409,BMG_DS044371,"Emery-Dreifuss Muscular Dystrophy 4 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant"
BMGC_DS13410,BMG_DS044372,Spermatogenic Failure 7 | spermatogenic failure 7
BMGC_DS13411,BMG_DS044373,"Optic Atrophy 7 | autosomal recessive optic atrophy, OPA7 type | optic atrophy 7"
BMGC_DS13412,BMG_DS044375,"Cataract, Autosomal Recessive Congenital 3 | cataract 34 multiple types"
BMGC_DS13413,BMG_DS044376,"46, XY Disorders of Sex Development | 46,XY disorder of sex development | Disorder of Sex Development, 46,XY"
BMGC_DS13414,BMG_DS044377,Premature Ovarian Failure 7 | premature ovarian failure 7
BMGC_DS13415,BMG_DS044378,Multiple Synostoses Syndrome 3 | multiple synostoses syndrome 3
BMGC_DS13416,BMG_DS044379,"Ventricular Fibrillation, Paroxysmal Familial, 2 | ventricular fibrillation, paroxysmal familial, 2"
BMGC_DS13417,BMG_DS044380,Long Qt Syndrome 12 | long QT syndrome 12
BMGC_DS13418,BMG_DS044381,"Myopathy, Myofibrillar, Bag3-Related | myofibrillar myopathy 6"
BMGC_DS13419,BMG_DS044382,"PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE | autosomal recessive Parkinson disease 14"
BMGC_DS13420,BMG_DS044383,"Leukoencephalopathy, Cystic, Without Megalencephaly | cystic leukoencephalopathy without megalencephaly"
BMGC_DS13421,BMG_DS044385,"Hypomyelination, Global Cerebral | developmental and epileptic encephalopathy 39 | developmental and epileptic encephalopathy, 39"
BMGC_DS13422,BMG_DS044388,"Hadziselimovic Syndrome | microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type"
BMGC_DS13423,BMG_DS044389,"Ventricular Fibrillation, Paroxysmal Familial, 1 | ventricular fibrillation, paroxysmal familial, type 1"
BMGC_DS13424,BMG_DS044391,RETINITIS PIGMENTOSA 42 | retinitis pigmentosa 42
BMGC_DS13425,BMG_DS044392,"Cutis Laxa, Autosomal Recessive, Type IIB | autosomal recessive cutis laxa type 2B"
BMGC_DS13426,BMG_DS044393,"lethal polymalformative syndrome, Boissel type"
BMGC_DS13427,BMG_DS044394,"Congenital Disorder of Glycosylation, Type Io | DPM3-congenital disorder of glycosylation"
BMGC_DS13428,BMG_DS044395,"Spastic Paraplegia-50, Autosomal Recessive | hereditary spastic paraplegia 50"
BMGC_DS13429,BMG_DS044396,Glycogen Storage Disease XIV | PGM1-congenital disorder of glycosylation
BMGC_DS13430,BMG_DS044397,Glycogen Storage Disease XIII | glycogen storage disease due to muscle beta-enolase deficiency
BMGC_DS13431,BMG_DS044399,atypical hemolytic-uremic syndrome with thrombomodulin anomaly
BMGC_DS13432,BMG_DS044400,atypical hemolytic-uremic syndrome with C3 anomaly
BMGC_DS13433,BMG_DS044401,atypical hemolytic-uremic syndrome with B factor anomaly
BMGC_DS13434,BMG_DS044402,atypical hemolytic-uremic syndrome with I factor anomaly
BMGC_DS13435,BMG_DS044403,atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
BMGC_DS13436,BMG_DS044404,3M syndrome 2 | Three M Syndrome 2
BMGC_DS13437,BMG_DS044405,"CLOVES syndrome | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi"
BMGC_DS13438,BMG_DS044406,Giacheti Syndrome | Giacheti syndrome
BMGC_DS13439,BMG_DS044407,Zechi-Ceide Syndrome | Zechi-Ceide syndrome
BMGC_DS13440,BMG_DS044408,Orofaciodigital syndrome 11 | orofaciodigital syndrome XI
BMGC_DS13441,BMG_DS044410,"Cerebral Palsy, Spastic Quadriplegic, 2 | cerebral palsy, spastic quadriplegic, 2"
BMGC_DS13442,BMG_DS044411,"epilepsy, idiopathic generalized, susceptibility to, 8"
BMGC_DS13443,BMG_DS044412,"Heterotopia, Periventricular, Associated With Chromosome 5q Deletion | chromosome 5Q14.3 deletion syndrome, distal"
BMGC_DS13444,BMG_DS044413,"Cardiomyopathy, Dilated, 1BB | dilated cardiomyopathy 1BB"
BMGC_DS13445,BMG_DS044414,Erythrocyte Amp Deaminase Deficiency
BMGC_DS13446,BMG_DS044415,ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY | oxoglutarate dehydrogenase deficiency | oxoglutaricaciduria
BMGC_DS13447,BMG_DS044416,ALPHA-2-PLASMIN INHIBITOR DEFICIENCY | alpha-2-plasmin inhibitor deficiency
BMGC_DS13448,BMG_DS044417,"Neuropathy, Hereditary Sensory And Autonomic, Type IIA | neuropathy, hereditary sensory and autonomic, type 2A"
BMGC_DS13449,BMG_DS044418,"pelvic organ prolapse, susceptibility to"
BMGC_DS13450,BMG_DS044419,"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | xeroderma pigmentosum group C"
BMGC_DS13451,BMG_DS044420,"46,XY sex reversal 4"
BMGC_DS13452,BMG_DS044421,malposition of teeth with or without hypodontia/oligodontia
BMGC_DS13453,BMG_DS044423,acute myeloid leukemia with myelodysplasia-related changes
BMGC_DS13454,BMG_DS044424,myeloid leukemia associated with down syndrome
BMGC_DS13455,BMG_DS044428,mixed phenotype acute leukemia with t(v;11q23.3)
BMGC_DS13456,BMG_DS044429,acute myeloid leukemia with t(6;9) (p23;q34.1)
BMGC_DS13457,BMG_DS044430,acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) | acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
BMGC_DS13458,BMG_DS044431,acute myeloid leukemia with mutated NPM1
BMGC_DS13459,BMG_DS044439,"SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 46"
BMGC_DS13460,BMG_DS044440,"DEAFNESS, AUTOSOMAL RECESSIVE 86 | autosomal recessive nonsyndromic hearing loss 86"
BMGC_DS13461,BMG_DS044441,"DEAFNESS, AUTOSOMAL RECESSIVE 88 | autosomal recessive nonsyndromic hearing loss 88"
BMGC_DS13462,BMG_DS044476,Infection due to Opisthorchis (felineus)(viverrini) | Opisthorchiasis
BMGC_DS13463,BMG_DS044477,Infection due to cat liver fluke | Opisthorchiasis
BMGC_DS13464,BMG_DS044573,"Adenomatosis of colon | Benign neoplasm of the large intestine, unspecified | familial adenomatous polyposis 2"
BMGC_DS13465,BMG_DS044592,Other aplastic anemias and other bone marrow failure syndromes
BMGC_DS13466,BMG_DS044606,"Bernard-Soulier [giant platelet] syndrome | Qualitative platelet defects, unspecified | platelet-type bleeding disorder 18"
BMGC_DS13467,BMG_DS044607,"Qualitative platelet defects, unspecified | Thromboasthenia (hemorrhagic) (hereditary) | platelet-type bleeding disorder 18"
BMGC_DS13468,BMG_DS044610,Cell membrane receptor complex [CR3] defect
BMGC_DS13469,BMG_DS044616,Other and unspecified diseases of blood and blood-forming organs
BMGC_DS13470,BMG_DS044617,"Acquired polycythaemia, unspecified | Polycythemia due to erythropoietin | familial erythrocytosis 2"
BMGC_DS13471,BMG_DS044618,"Acquired polycythaemia, unspecified | Polycythemia due to stress | familial erythrocytosis 2"
BMGC_DS13472,BMG_DS044627,"C1 esterase inhibitor [C1-INH] deficiency | Defects in the complement system, unspecified | complement component 2 deficiency | complement component 4b deficiency | complement component 9 deficiency | type I complement component 8 deficiency | type II complement component 8 deficiency"
BMGC_DS13473,BMG_DS044770,Isolated deficiency of pituitary hormone | Isolated deficiency of pituitary hormone (disorder) | Isolated pituitary hormone deficiency
BMGC_DS13474,BMG_DS044771,Hypopituitarism | Pituitary short stature | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type IB | isolated growth hormone deficiency type III
BMGC_DS13475,BMG_DS044780,"DELAYED PUBERTY, SELF-LIMITED | delayed puberty, self-limited"
BMGC_DS13476,BMG_DS044786,Beriberi with cardiovascular manifestations | wet beriberi
BMGC_DS13477,BMG_DS044787,Shoshin disease | wet beriberi
BMGC_DS13478,BMG_DS044823,"GM2-GANGLIOSIDOSIS, ADULT"
BMGC_DS13479,BMG_DS044853,Other and unspecified metabolic disorders
BMGC_DS13480,BMG_DS044890,"Familial torsion dystonia | Primary dystonia, unspecified | X-linked dystonia-parkinsonism | dopa-responsive dystonia | dystonia 21 | dystonia 25 | dystonia 27 | myoclonic dystonia 11 | torsion dystonia 1 | torsion dystonia 13 | torsion dystonia 17 | torsion dystonia 2 | torsion dystonia 4 | torsion dystonia 6"
BMGC_DS13481,BMG_DS044895,Disseminated multiple sclerosis
BMGC_DS13482,BMG_DS044936,"Epilepsies and epileptic syndromes undetermined as to whether they are focal or generalized | Epilepsy or seizures, unspecified | photosensitive epilepsy"
BMGC_DS13483,BMG_DS045055,"Charcot-Marie-Tooth disease X-linked dominant 1 | Charcot-Marie-Tooth disease X-linked dominant 6 | Charcot-Marie-Tooth disease X-linked recessive 4 | Charcot-Marie-Tooth disease X-linked recessive 5 | Charcot-Marie-Tooth disease axonal type 2C | Charcot-Marie-Tooth disease axonal type 2F | Charcot-Marie-Tooth disease axonal type 2H | Charcot-Marie-Tooth disease axonal type 2K | Charcot-Marie-Tooth disease axonal type 2L | Charcot-Marie-Tooth disease axonal type 2N | Charcot-Marie-Tooth disease axonal type 2O | Charcot-Marie-Tooth disease axonal type 2P | Charcot-Marie-Tooth disease axonal type 2Q | Charcot-Marie-Tooth disease axonal type 2T | Charcot-Marie-Tooth disease axonal type 2U | Charcot-Marie-Tooth disease dominant intermediate E | Charcot-Marie-Tooth disease dominant intermediate F | Charcot-Marie-Tooth disease recessive intermediate B | Charcot-Marie-Tooth disease recessive intermediate C | Charcot-Marie-Tooth disease recessive intermediate D | Charcot-Marie-Tooth disease type 1A | Charcot-Marie-Tooth disease type 1B | Charcot-Marie-Tooth disease type 1E | Charcot-Marie-Tooth disease type 1F | Charcot-Marie-Tooth disease type 2A1 | Charcot-Marie-Tooth disease type 2A2A | Charcot-Marie-Tooth disease type 2D | Charcot-Marie-Tooth disease type 2E | Charcot-Marie-Tooth disease type 2J | Charcot-Marie-Tooth disease type 2R | Charcot-Marie-Tooth disease type 2Y | Charcot-Marie-Tooth disease type 4B3 | Charcot-Marie-Tooth disease type 4C | Charcot-Marie-Tooth disease type 4D | Charcot-Marie-Tooth disease type 4E | Charcot-Marie-Tooth disease type 4F | Charcot-Marie-Tooth disease type 4G | Charcot-Marie-Tooth disease type 4H | Charcot-Marie-Tooth disease type 4J | Charcot-Marie-Tooth disease type 4K | Hereditary motor and sensory neuropathy, unspecified | Peroneal muscular atrophy (axonal type) (hypertrophic type) | agenesis of the corpus callosum with peripheral neuropathy"
BMGC_DS13484,BMG_DS045056,"Disorders of nerve root, plexus or peripheral nerves, unspecified | Dominantly inherited sensory neuropathy | hereditary sensory and autonomic neuropathy type 6 | hereditary sensory and autonomic neuropathy type 7 | hereditary sensory neuropathy type 1E"
BMGC_DS13485,BMG_DS045057,"Disorders of nerve root, plexus or peripheral nerves, unspecified | Nelaton's syndrome | hereditary sensory and autonomic neuropathy type 6 | hereditary sensory and autonomic neuropathy type 7 | hereditary sensory neuropathy type 1E"
BMGC_DS13486,BMG_DS045058,"Disorders of nerve root, plexus or peripheral nerves, unspecified | Recessively inherited sensory neuropathy | hereditary sensory and autonomic neuropathy type 6 | hereditary sensory and autonomic neuropathy type 7 | hereditary sensory neuropathy type 1E"
BMGC_DS13487,BMG_DS045074,Paraplegia (paraparesis) and quadriplegia (quadriparesis)
BMGC_DS13488,BMG_DS047090,"Cardiac, heart or myocardial failure NOS | Heart failure, unspecified"
BMGC_DS13489,BMG_DS047560,Sepsis caused by Streptococcus pneumoniae | Sepsis caused by Streptococcus pneumoniae (disorder) | Severe sepsis with acute organ dysfunction caused by Pneumococcus
BMGC_DS13490,BMG_DS047563,Sepsis caused by Staphylococcus aureus | Sepsis caused by Staphylococcus aureus (disorder)
BMGC_DS13491,BMG_DS047566,Sepsis caused by Haemophilus influenzae | Sepsis caused by Haemophilus influenzae (disorder) | Severe sepsis with acute organ dysfunction caused by Haemophilus influenzae
BMGC_DS13492,BMG_DS047570,Sepsis caused by Pseudomonas | Sepsis caused by Pseudomonas (disorder) | Sepsis due to Pseudomonas | Severe sepsis with acute organ dysfunction caused by Pseudomonas
BMGC_DS13493,BMG_DS047571,Sepsis caused by Serratia | Sepsis caused by Serratia (disorder) | Severe sepsis with acute organ dysfunction caused by Serratia
BMGC_DS13494,BMG_DS047776,Bronchopneumonia due to S. pneumoniae | Streptococcus pneumonia
BMGC_DS13495,BMG_DS047813,"Respiratory Distress Syndrome | Respiratory Distress Syndrome, Acute | acute respiratory distress syndrome"
BMGC_DS13496,BMG_DS047847,Dental abscess with sinus | Periapical abscess with sinus | dental abscess
BMGC_DS13497,BMG_DS047848,Dentoalveolar abscess with sinus | Periapical abscess with sinus | dental abscess
BMGC_DS13498,BMG_DS047959,Crohn disease of small intestine | Crohn's disease [regional enteritis] of duodenum | gastroduodenal Crohn's disease | jejunoileitis
BMGC_DS13499,BMG_DS047960,Crohn disease of small intestine | Crohn's disease [regional enteritis] of ileum | gastroduodenal Crohn's disease | jejunoileitis
BMGC_DS13500,BMG_DS047961,Crohn disease of small intestine | Crohn's disease [regional enteritis] of jejunum | gastroduodenal Crohn's disease | jejunoileitis
BMGC_DS13501,BMG_DS048230,Psoriasiform diaper rash
BMGC_DS13502,BMG_DS048235,Other and unspecified dermatitis
BMGC_DS13503,BMG_DS048236,Generalised pustular psoriasis | Von Zumbusch's disease | pustular psoriasis 14
BMGC_DS13504,BMG_DS048618,Atrophie blanche (en plaque) | Livedoid vasculopathy | livedoid vasculitis
BMGC_DS13505,BMG_DS049585,Post traumatic osteoarthritis | Post traumatic osteoarthritis (disorder)
BMGC_DS13506,BMG_DS050995,"Other and unspecified soft tissue disorders, not elsewhere classified"
BMGC_DS13507,BMG_DS051828,Nephrotic syndrome | Nephrotic syndrome with focal and segmental hyalinosis | focal segmental glomerulosclerosis 1 | focal segmental glomerulosclerosis 6 | focal segmental glomerulosclerosis 7 | focal segmental glomerulosclerosis 8 | focal segmental glomerulosclerosis 9
BMGC_DS13508,BMG_DS051829,Nephrotic syndrome | Nephrotic syndrome with focal and segmental sclerosis | focal segmental glomerulosclerosis 1 | focal segmental glomerulosclerosis 6 | focal segmental glomerulosclerosis 7 | focal segmental glomerulosclerosis 8 | focal segmental glomerulosclerosis 9
BMGC_DS13509,BMG_DS051830,Nephrotic syndrome | Nephrotic syndrome with focal glomerulonephritis | focal segmental glomerulosclerosis 1 | focal segmental glomerulosclerosis 6 | focal segmental glomerulosclerosis 7 | focal segmental glomerulosclerosis 8 | focal segmental glomerulosclerosis 9
BMGC_DS13510,BMG_DS051896,Other and unspecified disorders of prostate
BMGC_DS13511,BMG_DS052027,twin to twin transfusion syndrome | twin-to-twin transfusion syndrome
BMGC_DS13512,BMG_DS052107,"Congenital cerebral aneurysm (nonruptured) | Structural developmental anomalies of the peripheral vascular system, unspecified | cerebral cavernous malformation 2 | cerebral cavernous malformation 3"
BMGC_DS13513,BMG_DS052120,"Ballard syndrome | Hemimelia of limb NOS | Syndromes with micromelia, unspecified | brachydactyly type A4 | brachydactyly type B2 | brachydactyly-preaxial hallux varus syndrome"
BMGC_DS13514,BMG_DS052121,"Asphyxiating thoracic dysplasia [Jeune] | Short rib syndromes, unspecified | asphyxiating thoracic dystrophy | asphyxiating thoracic dystrophy 1 | asphyxiating thoracic dystrophy 3 | asphyxiating thoracic dystrophy 4 | asphyxiating thoracic dystrophy 5 | short-rib thoracic dysplasia 11 with or without polydactyly | short-rib thoracic dysplasia 13 with or without polydactyly | short-rib thoracic dysplasia 6 with or without polydactyly | short-rib thoracic dysplasia 7 with or without polydactyly | short-rib thoracic dysplasia 8 with or without polydactyly"
BMGC_DS13515,BMG_DS052123,"Inherited keratosis palmaris et plantaris | Structural developmental anomalies of the skin, unspecified | autosomal dominant cutis laxa | autosomal dominant cutis laxa 1 | autosomal dominant cutis laxa 2 | autosomal dominant cutis laxa 3 | autosomal recessive cutis laxa type IA | autosomal recessive cutis laxa type IB | autosomal recessive cutis laxa type II classic type | autosomal recessive cutis laxa type IIA | autosomal recessive cutis laxa type IIB | autosomal recessive cutis laxa type IIC | autosomal recessive cutis laxa type IID | autosomal recessive cutis laxa type IIIA | autosomal recessive cutis laxa type IIIB"
BMGC_DS13516,BMG_DS052124,"Keratosis follicularis [Darier-White] | Structural developmental anomalies of the skin, unspecified | autosomal dominant cutis laxa | autosomal dominant cutis laxa 1 | autosomal dominant cutis laxa 2 | autosomal dominant cutis laxa 3 | autosomal recessive cutis laxa type IA | autosomal recessive cutis laxa type IB | autosomal recessive cutis laxa type II classic type | autosomal recessive cutis laxa type IIA | autosomal recessive cutis laxa type IIB | autosomal recessive cutis laxa type IIC | autosomal recessive cutis laxa type IID | autosomal recessive cutis laxa type IIIA | autosomal recessive cutis laxa type IIIB"
BMGC_DS13517,BMG_DS052131,Trisomy 18 and Trisomy 13
BMGC_DS13518,BMG_DS052138,"46, XY with streak gonads | Chimaera 46, XX, 46, XY, unspecified | Malformative disorders of sex development, unspecified | hypogonadotropic hypogonadism 23 with or without anosmia"
BMGC_DS13519,BMG_DS052232,Congenital haemolytic uraemic syndrome | Congenital hemolytic uremic syndrome | Congenital hemolytic uremic syndrome (disorder)
BMGC_DS13520,BMG_DS052236,"Nonsustained Ventricular Tachycardia | Tachycardia, Ventricular"
BMGC_DS13521,BMG_DS052256,acute myeloid leukemia with t(9;11)(p22;q23)
BMGC_DS13522,BMG_DS052268,"GSD I | Glycogen storage disease type Ia | Glycogen storage disease type Ia (disorder) | Glycogen storage disease, type 1 | Glycogen storage disease, type I | Glycogen storage disease, type I (disorder) | Hepatorenal glycogen storage disease | Liver glycogen disease | glycogen storage disease due to glucose-6-phosphatase deficiency type IA | von Gierke disease | von Gierke's disease"
BMGC_DS13523,BMG_DS052277,Chronic ulcerative colitis | Chronic ulcerative colitis (disorder) | Colitis gravis | Idiopathic proctocolitis | UC - ulcerative colitis | Ulcerative colitis | Ulcerative colitis (disorder)
BMGC_DS13524,BMG_DS052293,cerebral cavernous malformation
BMGC_DS13525,BMG_DS052318,Bilateral Wilms Tumor | Wilms Tumor
BMGC_DS13526,BMG_DS052322,Asbestosis | Pulmonary Fibrosis - from Asbestos Exposure
BMGC_DS13527,BMG_DS052323,Disorders of Sex Development | Sex Differentiation Disorders | disorder of sexual differentiation
BMGC_DS13528,BMG_DS052327,Familial acanthosis nigricans | familial acanthosis nigricans
BMGC_DS13529,BMG_DS052330,Primary visual agnosia | visual agnosia
BMGC_DS13530,BMG_DS052335,Familial antiphospholipid syndrome | familial antiphospholipid syndrome
BMGC_DS13531,BMG_DS052365,Familial pityriasis rubra pilaris | familial pityriasis rubra pilaris
BMGC_DS13532,BMG_DS052366,Idiopathic intracranial hypertension with papilledema
BMGC_DS13533,BMG_DS052367,Hypopituitarism and septooptic 'dysplasia'
BMGC_DS13534,BMG_DS052378,"Premature ovarian failure, familial | inherited primary ovarian failure"
BMGC_DS13535,BMG_DS052382,Ramer Ladda syndrome | humeroradial synostosis
BMGC_DS13536,BMG_DS052383,Ramos Arroyo Clark syndrome | Ramos-Arroyo syndrome
BMGC_DS13537,BMG_DS052394,"Cataract, congenital, with microcornea or slight microphthalmia"
BMGC_DS13538,BMG_DS052404,"Congenital thrombotic disease, due to Protein C deficiency"
BMGC_DS13539,BMG_DS052406,Benign essential blepharospasm | Blepharospasm | Blepharospasm (disorder) | Blepharospasm (spasm of eyelid) | Essential blepharospasm | Spasm of eyelids | benign essential blepharospasm
BMGC_DS13540,BMG_DS052408,Beta-sarcoglycanopathy | qualitative or quantitative defects of beta-sarcoglycan
BMGC_DS13541,BMG_DS052417,Ring Chromosome 14 Syndrome | ring chromosome 14 | ring chromosome 14 syndrome
BMGC_DS13542,BMG_DS052427,Abdominal obesity metabolic syndrome | abdominal obesity-metabolic syndrome
BMGC_DS13543,BMG_DS052448,Freire-Maia odontotrichomelic syndrome | odontotrichomelic syndrome
BMGC_DS13544,BMG_DS052449,Frenkel Russe syndrome | retinal telangiectasia and hypogammaglobulinemia
BMGC_DS13545,BMG_DS052455,"digestive system neuroendocrine tumor, grade 1/2"
BMGC_DS13546,BMG_DS052458,"Acromesomelic dysplasia Hunter-Thompson type | Acromesomelic dysplasia Hunter-Thompson type (disorder) | Hunter-Thompson dysplasia | acromesomelic dysplasia | acromesomelic dysplasia 2C, Hunter-Thompson type"
BMGC_DS13547,BMG_DS052462,Acute erythroleukemia
BMGC_DS13548,BMG_DS052463,Acute erythroleukemia - M6a subtype
BMGC_DS13549,BMG_DS052464,Acute myeloid leukemia FAB-M6
BMGC_DS13550,BMG_DS052465,Acute erythroleukemia - M6b subtype
BMGC_DS13551,BMG_DS052466,Richieri Costa Da Silva syndrome | Richieri Costa-da Silva syndrome
BMGC_DS13552,BMG_DS052468,"malignant hyperthermia, susceptibility to, 1"
BMGC_DS13553,BMG_DS052469,"malignant hyperthermia, susceptibility to, 2"
BMGC_DS13554,BMG_DS052470,"malignant hyperthermia, susceptibility to, 3"
BMGC_DS13555,BMG_DS052472,"Maple syrup urine disease, type 1A"
BMGC_DS13556,BMG_DS052473,"Maple syrup urine disease, type 1B | maple syrup urine disease type 1B"
BMGC_DS13557,BMG_DS052476,Familial duodenal atresia | duodenal atresia
BMGC_DS13558,BMG_DS052477,Dyschromatosis universalis hereditaria | dyschromatosis universalis hereditaria
BMGC_DS13559,BMG_DS052479,ALG6-congenital disorder of glycosylation 1C | Congenital disorder of glycosylation type 1C
BMGC_DS13560,BMG_DS052480,ALG12-congenital disorder of glycosylation | ALG12-congenital disorder of glycosylation (disorder) | Congenital disorder of glycosylation type 1G | Congenital disorder of glycosylation type Ig
BMGC_DS13561,BMG_DS052481,ALG8-congenital disorder of glycosylation | Congenital disorder of glycosylation type 1H
BMGC_DS13562,BMG_DS052482,Congenital disorder of glycosylation type 1J | DPAGT1-congenital disorder of glycosylation
BMGC_DS13563,BMG_DS052483,ALG1 congenital disorder of glycosylation | ALG1-CDG - asparagine-linked glycosylation 1 congenital disorder of glycosylation | ALG1-congenital disorder of glycosylation | Asparagine-linked glycosylation 1 congenital disorder of glycosylation | Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) | Carbohydrate deficient glycoprotein syndrome type Ik | Congenital disorder of glycosylation type 1K | Mannosyltransferase 1 deficiency
BMGC_DS13564,BMG_DS052484,ALG9 congenital disorder of glycosylation | ALG9-CDG - asparagine-linked glycosylation 9 congenital disorder of glycosylation | ALG9-congenital disorder of glycosylation | Asparagine-linked glycosylation 9 congenital disorder of glycosylation | Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) | Carbohydrate deficient glycoprotein syndrome type IL | Congenital disorder of glycosylation type 1L | Congenital disorder of glycosylation type IL | Mannosyltransferase 7-9 deficiency
BMGC_DS13565,BMG_DS052485,Congenital disorder of glycosylation type 1X | STT3B-congenital disorder of glycosylation
BMGC_DS13566,BMG_DS052486,Congenital disorder of glycosylation type 2A | MGAT2-congenital disorder of glycosylation | congenital disorder of glycosylation type IIa
BMGC_DS13567,BMG_DS052487,B4GALT1-congenital disorder of glycosylation | Congenital disorder of glycosylation type 2D | congenital disorder of glycosylation type IId
BMGC_DS13568,BMG_DS052488,COG7-congenital disorder of glycosylation | Congenital disorder of glycosylation type 2E | congenital disorder of glycosylation type IIe
BMGC_DS13569,BMG_DS052489,"COG1-congenital disorder of glycosylation | Congenital disorder of glycosylation, type 2G | congenital disorder of glycosylation type IIg"
BMGC_DS13570,BMG_DS052491,"Cystinosis, benign, nonnephropathic | ocular cystinosis"
BMGC_DS13571,BMG_DS052496,split hand-foot malformation 1
BMGC_DS13572,BMG_DS052505,"Nevi flammei, familial multiple | familial multiple nevi flammei"
BMGC_DS13573,BMG_DS052511,"Pulmonary alveolar proteinosis, congenital"
BMGC_DS13574,BMG_DS052513,"Pancreatic cancer, adult"
BMGC_DS13575,BMG_DS052514,familial pancreatic carcinoma
BMGC_DS13576,BMG_DS052517,4-Hydroxyphenylpyruvate dioxygenase deficiency | 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) | 4-Hydroxyphenylpyruvate hydroxylase deficiency | HPD-gene related hawkinsinuria | Hawkinsinuria | Hawkinsinuria (disorder) | Tyrosinaemia type III | Tyrosinemia type III | hawkinsinuria
BMGC_DS13577,BMG_DS052519,"Heart defect, tongue hamartoma and polysyndactyly | congenital heart defects, hamartomas of tongue, and polysyndactyly"
BMGC_DS13578,BMG_DS052521,Greenberg dysplasia | HEM dysplasia
BMGC_DS13579,BMG_DS052525,Rubinstein Taybi like syndrome
BMGC_DS13580,BMG_DS052526,Familial caudal dysgenesis | Familial caudal dysgenesis (disorder) | Rudd Klimek syndrome | familial caudal dysgenesis
BMGC_DS13581,BMG_DS052531,Marfan Syndrome | Marfan Syndrome Type 2
BMGC_DS13582,BMG_DS052532,Marie Unna congenital hypotrichosis | Marie Unna hereditary hypotrichosis | Marie Unna syndrome | Marie Unna syndrome (disorder)
BMGC_DS13583,BMG_DS052533,Mononen Karnes Senac syndrome | Mononen-Karnes-Senac syndrome | Skeletal dysplasia brachydactyly syndrome | Skeletal dysplasia brachydactyly syndrome (disorder)
BMGC_DS13584,BMG_DS052537,Pierre Robin Sequence with Facial and Digital Anomalies | Pierre Robin syndrome-faciodigital anomaly syndrome
BMGC_DS13585,BMG_DS052540,"Cholestasis, progressive familial intrahepatic 4 | cholestasis, progressive familial intrahepatic, 4"
BMGC_DS13586,BMG_DS052544,"Epidermolysa bullosa simplex and limb girdle muscular dystrophy | epidermolysis bullosa simplex 5B, with muscular dystrophy"
BMGC_DS13587,BMG_DS052545,"Collagenopathy, type 2 alpha 1 | type 2 collagenopathy"
BMGC_DS13588,BMG_DS052553,Familial apoceruloplasmin deficiency
BMGC_DS13589,BMG_DS052562,Maternally Inherited Leigh Syndrome | maternally-inherited Leigh syndrome
BMGC_DS13590,BMG_DS052563,"Osteogenesis Imperfecta, Type V | osteogenesis imperfecta type 5"
BMGC_DS13591,BMG_DS052570,Hydrolethalus syndrome | Hydrolethalus syndrome (disorder) | hydrolethalus syndrome
BMGC_DS13592,BMG_DS052571,"Hypercalciuria, childhood idiopathic"
BMGC_DS13593,BMG_DS052573,"Myasthenic syndrome, congenital, postsynaptic slow-channel | congenital myasthenic syndrome 1A"
BMGC_DS13594,BMG_DS052577,"Myopia, susceptibility to"
BMGC_DS13595,BMG_DS052578,myostatin-related muscle hypertrophy
BMGC_DS13596,BMG_DS052582,Cerebral Nocardiosis | Nocardia Infections
BMGC_DS13597,BMG_DS052583,Fetal megacystis
BMGC_DS13598,BMG_DS052584,Megalocytic interstitial nephritis
BMGC_DS13599,BMG_DS052587,Meier Blumberg Imahorn syndrome | renal hypomagnesemia 5 with ocular involvement
BMGC_DS13600,BMG_DS052588,"Keratosis palmoplantaris striata 1 | keratosis palmoplantaris striata 1 | palmoplantar keratoderma i, striate, focal, or diffuse"
BMGC_DS13601,BMG_DS052589,Keratosis palmoplantaris striata 3 | keratosis palmoplantaris striata 3
BMGC_DS13602,BMG_DS052596,Clark-Baraitser syndrome
BMGC_DS13603,BMG_DS052597,"Crigler Najjar syndrome, type 2 | Crigler-Najjar syndrome type 2"
BMGC_DS13604,BMG_DS052598,Pediatric Crohn's disease
BMGC_DS13605,BMG_DS052599,"Cutis laxa, recessive"
BMGC_DS13606,BMG_DS052600,Blepharophimosis syndrome type 1
BMGC_DS13607,BMG_DS052601,Blepharophimosis syndrome type 2
BMGC_DS13608,BMG_DS052605,Morquio syndrome C | Nonkeratan-sulfate-excreting Morquio syndrome
BMGC_DS13609,BMG_DS052607,Dysharmonic skeletal maturation and muscular fiber disproportion syndrome | Dysharmonic skeletal maturation and muscular fibre disproportion syndrome | Puerto Rican infant hypotonia syndrome | Puerto Rican infant hypotonia syndrome (disorder) | Qazi Markouizos syndrome
BMGC_DS13610,BMG_DS052611,Radio renal syndrome | radio-renal syndrome
BMGC_DS13611,BMG_DS052618,IgAD1 | Immunoglobulin a deficiency 1
BMGC_DS13612,BMG_DS052626,Juvenile pauciarticular chronic arthritis | oligoarticular juvenile idiopathic arthritis
BMGC_DS13613,BMG_DS052630,"Vestibulocochlear Dysfunction, Progressive | vestibulocochlear dysfunction, progressive"
BMGC_DS13614,BMG_DS052633,Angiofollicular ganglionic hyperplasia | Castleman disease
BMGC_DS13615,BMG_DS052634,Abdominal angiostrongyliasis | angiostrongyliasis
BMGC_DS13616,BMG_DS052635,Intravitreal angiostrongyliasis | angiostrongyliasis
BMGC_DS13617,BMG_DS052641,Infantile nephropathic cystinosis | Infantile nephropathic cystinosis (disorder) | Lignac-Fanconi syndrome | Nephropathic cystinosis | cystinosis | nephropathic cystinosis
BMGC_DS13618,BMG_DS052645,Prinzmetal's variant angina
BMGC_DS13619,BMG_DS052651,bladder urachal carcinoma
BMGC_DS13620,BMG_DS052653,"Usher syndrome type 1B | Usher syndrome, type 1B"
BMGC_DS13621,BMG_DS052654,"Usher syndrome, type 1C"
BMGC_DS13622,BMG_DS052655,"Usher syndrome, type 1D"
BMGC_DS13623,BMG_DS052657,"Usher syndrome, type 1F"
BMGC_DS13624,BMG_DS052659,"Usher syndrome type 2C | Usher syndrome, type 2C"
BMGC_DS13625,BMG_DS052660,Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities | tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
BMGC_DS13626,BMG_DS052664,Tetraamelia multiple malformations | tetraamelia-multiple malformations syndrome
BMGC_DS13627,BMG_DS052669,6 alpha mercaptopurine sensitivity | poor metabolism of thiopurines | thiopurine metabolic disease
BMGC_DS13628,BMG_DS052674,"VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS | VACTERL association, X-linked, with or without hydrocephalus | X-linked VACTERL association"
BMGC_DS13629,BMG_DS052675,"Vacuolar myopathy | myopathy, autophagic vacuolar, infantile-onset"
BMGC_DS13630,BMG_DS052682,"triphalangeal thumb, Nonopposable"
BMGC_DS13631,BMG_DS052685,Waldmann disease | primary intestinal lymphangiectasia
BMGC_DS13632,BMG_DS052688,"Craniometaphyseal dysplasia, autosomal recessive type | craniometaphyseal dysplasia, autosomal recessive"
BMGC_DS13633,BMG_DS052689,Bone Marrow Failure Disorders | bone marrow failure syndrome
BMGC_DS13634,BMG_DS052690,Potocki-Lupski syndrome
BMGC_DS13635,BMG_DS052691,"Chromosome 18, monosomy 18Q | chromosome 18q deletion syndrome"
BMGC_DS13636,BMG_DS052695,"Alport syndrome, dominant type"
BMGC_DS13637,BMG_DS052696,"Alport syndrome, recessive type"
BMGC_DS13638,BMG_DS052699,"Amaurosis congenita of Leber, type 1 | Leber congenital amaurosis 1"
BMGC_DS13639,BMG_DS052701,famililal cerebral cavernous malformations
BMGC_DS13640,BMG_DS052704,Scapuloperoneal myopathy | scapuloperoneal myopathy
BMGC_DS13641,BMG_DS052711,Spastic paraplegia 17 | hereditary spastic paraplegia 17
BMGC_DS13642,BMG_DS052714,Alopecia and intellectual disability syndrome | Alopecia and intellectual disability syndrome (disorder) | Perniola Krajewska Carnevale syndrome | alopecia - intellectual disability syndrome
BMGC_DS13643,BMG_DS052722,"Welander distal myopathy, Swedish type"
BMGC_DS13644,BMG_DS052723,Spastic paraparesis and deafness | Spastic paraparesis co-occurrent with deafness | Spastic paraparesis co-occurrent with deafness (disorder) | Wells Jankovic syndrome | spastic paraparesis-deafness syndrome | spastic paraplegia with deafness
BMGC_DS13645,BMG_DS052728,"Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Yorifuji Okuno syndrome | pancreatic hypoplasia-diabetes-congenital heart disease syndrome"
BMGC_DS13646,BMG_DS052731,Combined immunodeficiency due to ZAP70 (Zeta-chain associated protein kinase 70) deficiency | Combined immunodeficiency due to ZAP70 deficiency | Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency | Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder)
BMGC_DS13647,BMG_DS052736,Woods Leversha Rogers syndrome | intrauterine growth retardation with increased mitomycin c sensitivity
BMGC_DS13648,BMG_DS052744,T cell immunodeficiency primary
BMGC_DS13649,BMG_DS052754,Glucose-6-phosphate translocase deficiency | glycogen storage disease type 1 due to SLC37A4 mutation
BMGC_DS13650,BMG_DS052757,Familial myelofibrosis | familial myelofibrosis
BMGC_DS13651,BMG_DS052760,"Spastic paraplegia 3, autosomal dominant | hereditary spastic paraplegia 3A"
BMGC_DS13652,BMG_DS052783,Moyamoya disease 1 | moyamoya disease 1
BMGC_DS13653,BMG_DS052793,"Bulbospinal neuronopathy, X-linked recessive"
BMGC_DS13654,BMG_DS052798,Familial lipomyelomeningocele
BMGC_DS13655,BMG_DS052799,Long QT syndrome type 3 | Long QT syndrome type 3 (disorder)
BMGC_DS13656,BMG_DS052813,Bare lymphocyte syndrome 2
BMGC_DS13657,BMG_DS052815,"Brachydactylous dwarfism Mseleni type | Brachydactylous dwarfism Mseleni type (disorder) | Mseleni joint disease | brachydactylous dwarfism, Mseleni type"
BMGC_DS13658,BMG_DS052819,Orofaciodigital syndrome type1
BMGC_DS13659,BMG_DS052825,Paraquat lung
BMGC_DS13660,BMG_DS052831,"Hereditary spastic paralysis, infantile onset ascending | infantile-onset ascending hereditary spastic paralysis"
BMGC_DS13661,BMG_DS052845,"Prosopagnosia, hereditary | prosopagnosia, hereditary"
BMGC_DS13662,BMG_DS052846,"prostate cancer, hereditary"
BMGC_DS13663,BMG_DS052848,Lynch syndrome I (site-specific colonic cancer)
BMGC_DS13664,BMG_DS052850,Cardiospondylocarpofacial syndrome | Cardiospondylocarpofacial syndrome (disorder) | Forney Robinson Pascoe syndrome | Forney syndrome | Mitral regurgitation with deafness and skeletal anomalies syndrome | cardiospondylocarpofacial syndrome
BMGC_DS13665,BMG_DS052853,Choanal atresia with radial ray hypoplasia | Choanal atresia with radial ray hypoplasia (disorder) | Goldblatt Viljoen syndrome | radial ray hypoplasia-choanal atresia syndrome
BMGC_DS13666,BMG_DS052865,Multiple system atrophy (MSA) with orthostatic hypotension
BMGC_DS13667,BMG_DS052867,"Neurofibromatosis, Type 3, mixed central and peripheral | neurofibromatosis, type III, mixed central and peripheral"
BMGC_DS13668,BMG_DS052869,Neurofibromatosis-Noonan syndrome | neurofibromatosis-Noonan syndrome
BMGC_DS13669,BMG_DS052875,Zlotogora-Ogur syndrome | cleft lip/palate-ectodermal dysplasia syndrome
BMGC_DS13670,BMG_DS052882,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1 | intellectual disability, X-linked 1 | non-syndromic X-linked intellectual disability 1"
BMGC_DS13671,BMG_DS052884,"Microphthalmia and mental deficiency | microphthalmia, isolated, with coloboma"
BMGC_DS13672,BMG_DS052886,"Microtia, meatal atresia and conductive deafness | microtia with meatal atresia and conductive deafness"
BMGC_DS13673,BMG_DS052942,deletion 5q35
BMGC_DS13674,BMG_DS052943,Basaran Yilmaz syndrome
BMGC_DS13675,BMG_DS052949,Cardiovascular Gaucher disease | Gaucher disease with ophthalmoplegia and cardiovascular calcification | Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) | Gaucher's disease type 3C | Gaucher-like disease
BMGC_DS13676,BMG_DS052980,"8p23.1 microdeletion syndrome | Chromosome 8, monosomy 8p23 1"
BMGC_DS13677,BMG_DS052984,Foveal hypoplasia with presenile cataract syndrome | Foveal hypoplasia with presenile cataract syndrome (disorder) | O'Donnell Pappas syndrome | foveal hypoplasia-presenile cataract syndrome
BMGC_DS13678,BMG_DS052987,Laplane Fontaine Lagardere syndrome | syndesmodysplasic dwarfism
BMGC_DS13679,BMG_DS052988,"Larsen syndrome, dominant type"
BMGC_DS13680,BMG_DS052996,Phacomatosis pigmentokeratotica | phakomatosis pigmentokeratotica
BMGC_DS13681,BMG_DS053000,"Baraitser Brett Piesowicz syndrome | Bilateral band-like calcification with polymicrogyria | Congenital intrauterine infection-like syndrome | Congenital intrauterine infection-like syndrome (disorder) | Microcephaly, intracranial calcification, intellectual disability syndrome | Pseudo-TORCH syndrome"
BMGC_DS13682,BMG_DS053007,"ABeta amyloidosis, dutch type | Cerebral hemorrhage with amyloidosis, hereditary, Dutch type"
BMGC_DS13683,BMG_DS053008,"Ceroid lipofuscinosis, neuronal 1, infantile"
BMGC_DS13684,BMG_DS053015,"Camurati Engelmann disease, type 2 | Camurati-Engelmann disease, type 2"
BMGC_DS13685,BMG_DS053018,"Charcot-Marie-Tooth disease, Type 1E"
BMGC_DS13686,BMG_DS053019,Dysferlinopathy | qualitative or quantitative defects of dysferlin
BMGC_DS13687,BMG_DS053020,myotonic dystrophy type 2
BMGC_DS13688,BMG_DS053031,"Deafness, autosomal dominant nonsyndromic sensorineural 17"
BMGC_DS13689,BMG_DS053035,Fronto-facio-nasal dysplasia | Frontofacionasal dysplasia syndrome | Frontofacionasal dysplasia syndrome (disorder) | Gollop syndrome | frontofacionasal dysplasia
BMGC_DS13690,BMG_DS053050,Lactate dehydrogenase deficiency type A | glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
BMGC_DS13691,BMG_DS053053,Sulfite oxidase deficiency syndrome | Sulfite oxidase deficiency syndrome (disorder) | Sulfocysteinuria | Sulphite oxidase deficiency syndrome | Sulphocysteinuria | isolated sulfite oxidase deficiency
BMGC_DS13692,BMG_DS053062,Acquired angioedema | acquired angioedema
BMGC_DS13693,BMG_DS053066,"Acrofacial dysostosis Catania form | acrofacial dysostosis, Catania type"
BMGC_DS13694,BMG_DS053071,"Deafness, autosomal dominant nonsyndromic sensorineural 22 | autosomal dominant nonsyndromic hearing loss 22"
BMGC_DS13695,BMG_DS053082,Adenosine monophosphate deaminase deficiency | adenosine monophosphate deaminase deficiency
BMGC_DS13696,BMG_DS053083,Amelogenesis imperfecta nephrocalcinosis | amelogenesis imperfecta type 1G
BMGC_DS13697,BMG_DS053084,Amyloid angiopathy
BMGC_DS13698,BMG_DS053085,"Amyotrophic lateral sclerosis, type 6 | amyotrophic lateral sclerosis type 6"
BMGC_DS13699,BMG_DS053086,familial atrial myxoma
BMGC_DS13700,BMG_DS053087,Atypical Hemolytic Uremic Syndrome | atypical hemolytic-uremic syndrome
BMGC_DS13701,BMG_DS053098,2q24 microdeletion syndrome
BMGC_DS13702,BMG_DS053099,2q37 deletion syndrome | 2q37 microdeletion syndrome | Albright hereditary osteodystrophy-like syndrome | Brachydactyly mental retardation syndrome | Chromosome 2q37 deletion syndrome | Chromosome 2q37 deletion syndrome (disorder) | chromosome 2q37 deletion syndrome
BMGC_DS13703,BMG_DS053103,"Autosomal recessive spastic paraplegia type 11 | Autosomal recessive spastic paraplegia type 11 (disorder) | Nakamura Osame syndrome | Spastic paraplegia, intellectual disability and thin corpus callosum"
BMGC_DS13704,BMG_DS053104,nasopharyngeal carcinoma
BMGC_DS13705,BMG_DS053108,Potassium aggravated myotonia | Potassium aggravated myotonia (disorder) | Sodium channel myotonia | potassium-aggravated myotonia
BMGC_DS13706,BMG_DS053112,MacKay Shek Carr syndrome | retinal degeneration-nanophthalmos-glaucoma syndrome
BMGC_DS13707,BMG_DS053113,"hyperinsulinemic hypoglycemia, familial, 1"
BMGC_DS13708,BMG_DS053114,"hyperinsulinemic hypoglycemia, familial, 2"
BMGC_DS13709,BMG_DS053115,Hyperprolinaemia type 2 | Hyperprolinaemia type II | Hyperprolinemia type 2 | Hyperprolinemia type 2 (disorder) | Hyperprolinemia type II | hyperprolinemia type 2
BMGC_DS13710,BMG_DS053116,Familial hypertryptophanaemia | Familial hypertryptophanemia | Familial hypertryptophanemia (disorder) | familial hypertryptophanemia
BMGC_DS13711,BMG_DS053117,A - alphalipoproteinaemia neuropathy | A - alphalipoproteinemia neuropathy | Alphalipoproteinaemia neuropathy | Alphalipoproteinemia neuropathy | Analphalipoproteinaemia | Analphalipoproteinemia | Analphaliproteinaemia | Analphaliproteinemia | Cholesterol thesaurismosis | Familial HDL deficiency | Familial high density lipoprotein deficiency | Familial hypoalphalipoproteinaemia | Familial hypoalphalipoproteinemia | Familial hypoalphalipoproteinemia (disorder)
BMGC_DS13712,BMG_DS053121,Spinal muscular atrophy 4
BMGC_DS13713,BMG_DS053122,Neurodegeneration with brain iron accumulation (NBIA) | neurodegeneration with brain iron accumulation
BMGC_DS13714,BMG_DS053127,Aase Smith syndrome 2 | Diamond-Blackfan anemia 6
BMGC_DS13715,BMG_DS053138,Familial schizencephaly | familial schizencephaly
BMGC_DS13716,BMG_DS053140,Free sialic acid storage disease | free sialic acid storage disease
BMGC_DS13717,BMG_DS053143,Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells | Hermansky-Pudlak syndrome 1
BMGC_DS13718,BMG_DS053149,"Reticuloendotheliosis, familial, with eosinophilia"
BMGC_DS13719,BMG_DS053152,Pfeiffer type acrocephalosyndactyly
BMGC_DS13720,BMG_DS053155,"Leigh syndrome | Necrotizing encephalopathy, infantile subacute, of Leigh"
BMGC_DS13721,BMG_DS053163,Limb-girdle muscular dystrophy autosomal recessive | autosomal recessive limb-girdle muscular dystrophy
BMGC_DS13722,BMG_DS053175,Hyperkeratosis of the palms and soles and esophageal papillomas | focal nonepidermolytic palmoplantar keratoderma | focal palmoplantar keratoderma
BMGC_DS13723,BMG_DS053178,Mitochondrial cytopathy | Mitochondrial cytopathy (disorder) | Mitochondrial disease
BMGC_DS13724,BMG_DS053182,Gestational Diabetes Insipidus | gestational diabetes insipidus
BMGC_DS13725,BMG_DS053184,Inherited Peripheral Neuropathy
BMGC_DS13726,BMG_DS053187,Pontocerebellar Hypoplasia Type 2 | pontocerebellar hypoplasia type 2
BMGC_DS13727,BMG_DS053188,Pseudohypoparathyroidism Type 1C | pseudohypoparathyroidism type 1C
BMGC_DS13728,BMG_DS053189,Pseudohypoparathyroidism Type 2 | pseudohypoparathyroidism type 2
BMGC_DS13729,BMG_DS053199,Sarcoglycanopathies | sarcoglycanopathy
BMGC_DS13730,BMG_DS053200,Alpha-Sarcoglycanopathies | Sarcoglycanopathies | autosomal recessive limb-girdle muscular dystrophy type 2D
BMGC_DS13731,BMG_DS053201,22q11 Deletion Syndrome
BMGC_DS13732,BMG_DS053202,"46, XX Disorders of Sex Development | 46,XX disorder of sex development"
BMGC_DS13733,BMG_DS053203,Walker-Warburg Syndrome | Walker-Warburg syndrome | alpha-Dystroglycanopathies | qualitative or quantitative defects of alpha-dystroglycan
BMGC_DS13734,BMG_DS053204,"46, XX Testicular Disorders of Sex Development | 46,XX sex reversal | 46,XX testicular disorder of sex development"
BMGC_DS13735,BMG_DS053207,Pyogenic Sacroiliitis | Sacroiliitis
BMGC_DS13736,BMG_DS053208,Sacroiliitis | Septic Sacroiliitis
BMGC_DS13737,BMG_DS053210,Chronic Liver Failure | End Stage Liver Disease | chronic liver failure
BMGC_DS13738,BMG_DS053211,CHARGE Syndrome | CHARGE syndrome | Familial CHARGE Syndrome
BMGC_DS13739,BMG_DS053215,Acquired Hypogammaglobulinemia | Common Variable Immunodeficiency
BMGC_DS13740,BMG_DS053216,"Common Variable Immunodeficiency | Immunoglobulin Deficiency, Late-Onset"
BMGC_DS13741,BMG_DS053217,"46,XY complete gonadal dysgenesis | Gonadal Dysgenesis, 46,XY | Swyer Syndrome"
BMGC_DS13742,BMG_DS053219,Familial Kleine-Levin Syndrome | Kleine-Levin Syndrome | Kleine-Levin syndrome
BMGC_DS13743,BMG_DS053220,"Hyper-Immunoglobulin E Syndrome, Autosomal Dominant | Job Syndrome | hyper IgE recurrent infection syndrome 1"
BMGC_DS13744,BMG_DS053221,"48,XXYY Syndrome | 48,XXYY syndrome | Klinefelter Syndrome"
BMGC_DS13745,BMG_DS053223,lymphoplasmacytic lymphoma
BMGC_DS13746,BMG_DS053224,Nevo syndrome
BMGC_DS13747,BMG_DS053226,"Hydroxymethylbilane Synthase Deficiency | Porphyria, Acute Intermittent"
BMGC_DS13748,BMG_DS053227,"Generalized Myotonia of Thomsen | Myotonia Congenita | Thomsen and Becker disease | myotonia congenita, autosomal dominant"
BMGC_DS13749,BMG_DS053228,Lynch syndrome 1
BMGC_DS13750,BMG_DS053229,"Antley-Bixler Syndrome Phenotype | Antley-Bixler Syndrome, Autosomal Dominant | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis"
BMGC_DS13751,BMG_DS053230,Spinocerebellar ataxia 30 | spinocerebellar ataxia type 30
BMGC_DS13752,BMG_DS053232,fumarase deficiency
BMGC_DS13753,BMG_DS053233,FFDD - focal facial dermal dysplasia | Focal dermal hypoplasia syndrome | Focal facial dermal dysplasia | Focal facial dermal dysplasia (disorder) | Goltz Gorlin syndrome | Goltz syndrome | Goltz syndrome (disorder) | Goltz-Gorlin (dermal hypoplasia) syndrome | Goltz-Gorlin syndrome | focal facial dermal dysplasia
BMGC_DS13754,BMG_DS053234,"Keratoderma, Palmoplantar, Epidermolytic | Keratosis of Greither | palmoplantar keratoderma, epidermolytic, 2"
BMGC_DS13755,BMG_DS053238,Congenital adrenal hyperplasia due to 21 hydroxylase deficiency | classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
BMGC_DS13756,BMG_DS053239,N syndrome | N syndrome (disorder)
BMGC_DS13757,BMG_DS053240,"Spastic paraplegia 25, autosomal recessive | hereditary spastic paraplegia 25"
BMGC_DS13758,BMG_DS053241,Bardet-Biedl syndrome 1
BMGC_DS13759,BMG_DS053242,Bardet-Biedl syndrome 2
BMGC_DS13760,BMG_DS053243,Bardet-Biedl syndrome 4
BMGC_DS13761,BMG_DS053245,"SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT | hereditary spastic paraplegia 36"
BMGC_DS13762,BMG_DS053246,"Spastic Paraplegia 37, Autosomal Dominant | hereditary spastic paraplegia 37"
BMGC_DS13763,BMG_DS053250,"Opitz GBBB Syndrome, X-Linked | X-linked Opitz G/BBB syndrome"
BMGC_DS13764,BMG_DS053252,"Cross syndrome | Cross syndrome (disorder) | Kramer syndrome | Oculocerebral hypopigmentation syndrome Cross type | Oculocerebral-hypopigmentation syndrome | oculocerebral hypopigmentation syndrome, Cross type"
BMGC_DS13765,BMG_DS053259,Chronic ulcerative proctitis | Chronic ulcerative proctitis (disorder) | IP - Idiopathic proctitis | Idiopathic proctitis | UC - Ulcerative colitis confined to rectum | Ulcerative colitis confined to rectum
BMGC_DS13766,BMG_DS053262,Biotin deficiency disease | Biotin deficiency disease (disorder) | biotin metabolic disease
BMGC_DS13767,BMG_DS053267,spinal cord glioma
BMGC_DS13768,BMG_DS053273,"THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT | thyroid hormone resistance, generalized, autosomal dominant"
BMGC_DS13769,BMG_DS053274,Congenital hereditary muscular dystrophy | Congenital hereditary muscular dystrophy (disorder) | congenital muscular dystrophy
BMGC_DS13770,BMG_DS053275,intracerebral hemorrhage
BMGC_DS13771,BMG_DS053276,Aphthae major | Mikulicz's aphthae | Oral aphthae or aphthalike ulceration | Periadenitis mucosa necrotica recurrens | RAS - Recurrent aphthous stomatitis | Recurrent aphthous stomatitis | Recurrent aphthous ulcer | Recurrent aphthous ulcer (disorder) | Recurrent aphthous ulceration | Recurring scarring aphthae | Sutton's disease | canker sore
BMGC_DS13772,BMG_DS053293,Cystic fibrosis with meconium ileus | Cystic fibrosis with meconium ileus (disorder) | Meconium ileus | Meconium ileus (disorder) | Meconium ileus in cystic fibrosis | Meconium ileus of the newborn | Meconium obstruction | Meconium obstruction of intestine in mucoviscidosis | meconium ileus
BMGC_DS13773,BMG_DS053310,myeloid neoplasm
BMGC_DS13774,BMG_DS053311,Deficiency of G-6PD (glucose-6-phosphate dehydrogenase) | Deficiency of glucose-6-phosphate dehydrogenase | Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD - glucose-6-phosphate dehydrogenase deficiency | G6PD deficiency | glucosephosphate dehydrogenase deficiency
BMGC_DS13775,BMG_DS053315,Thyroid Hormone Resistance Syndrome | thyroid hormone resistance syndrome
BMGC_DS13776,BMG_DS053327,Limb ischaemia | Limb ischemia | Limb ischemia (disorder) | limb ischemia
BMGC_DS13777,BMG_DS053347,Infection caused by carbapenem resistant Acinetobacter | Infection caused by carbapenem resistant Acinetobacter (disorder)
BMGC_DS13778,BMG_DS053390,Fungal septicaemia | Fungal septicemia | Septicaemia due to fungus | Septicemia due to fungus | Septicemia due to fungus (disorder)
BMGC_DS13779,BMG_DS053397,Haemoglobin H constant spring thalassaemia | Hemoglobin H constant spring thalassemia | Hemoglobin H constant spring thalassemia (disorder)
BMGC_DS13780,BMG_DS053408,alveolar capillary dysplasia with misalignment of pulmonary veins
BMGC_DS13781,BMG_DS053436,Capdepont teeth | Dentinogenesis imperfecta - Shield's type II | Dentinogenesis imperfecta - Shield's type II (disorder) | Dentinogenesis imperfecta without osteogenesis imperfecta | Hereditary opalescent dentine | dentinogenesis imperfecta type 2
BMGC_DS13782,BMG_DS053439,Hypertensive pulmonary arterial disease | Pulmonary arterial hypertension | Pulmonary hypertensive arterial disease | Pulmonary hypertensive arterial disease (disorder) | pulmonary arterial hypertension
BMGC_DS13783,BMG_DS053440,Coxiella burnetii Infection | Q Fever
BMGC_DS13784,BMG_DS053519,Dermatophytosis | Dermatophytosis (disorder) | Microsporic tinea | Ringworm | Superficial mycosis | Superficial mycosis (disorder) | Tinea | superficial mycosis
BMGC_DS13785,BMG_DS053524,"Developmental glaucoma | Developmental glaucoma, unspecified | Glaucoma of childhood | Glaucoma of childhood (disorder) | Infantile glaucoma | Juvenile glaucoma | juvenile open angle glaucoma"
BMGC_DS13786,BMG_DS053526,cleft palate
BMGC_DS13787,BMG_DS053531,papillary tumor of the pineal region
BMGC_DS13788,BMG_DS053532,Fetal Alcohol Spectrum Disorders | fetal alcohol spectrum disorder
BMGC_DS13789,BMG_DS053533,Familial rhabdoid tumor | Familial rhabdoid tumour | Rhabdoid tumor predisposition syndrome | Rhabdoid tumor predisposition syndrome (disorder) | Rhabdoid tumour predisposition syndrome | familial rhabdoid tumor | rhabdoid tumor predisposition syndrome
BMGC_DS13790,BMG_DS053539,diffuse intrinsic pontine glioma
BMGC_DS13791,BMG_DS053540,Congenital Bone Marrow Failure Syndromes
BMGC_DS13792,BMG_DS053541,overgrowth syndrome
BMGC_DS13793,BMG_DS053551,alcohol-related birth defect
BMGC_DS13794,BMG_DS053552,"DEAFNESS, AUTOSOMAL RECESSIVE 76 | autosomal recessive nonsyndromic hearing loss 76"
BMGC_DS13795,BMG_DS053553,"DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY"
BMGC_DS13796,BMG_DS053554,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E"
BMGC_DS13797,BMG_DS053555,"WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS | hypotrichosis 7"
BMGC_DS13798,BMG_DS053556,WH/HT | hypotrichosis 7
BMGC_DS13799,BMG_DS053557,"FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | amyotrophic lateral sclerosis type 10"
BMGC_DS13800,BMG_DS053558,"USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC"
BMGC_DS13801,BMG_DS053560,"DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY"
BMGC_DS13802,BMG_DS053561,"SEIZURES, BENIGN FAMILIAL NEONATAL, 1 | seizures, benign familial neonatal, 1"
BMGC_DS13803,BMG_DS053562,"SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA"
BMGC_DS13804,BMG_DS053563,"GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE"
BMGC_DS13805,BMG_DS053564,"PARASOMNIA, SLEEPTALKING TYPE"
BMGC_DS13806,BMG_DS053567,"CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB | chromosome 16p12.1 deletion syndrome | chromosome 16p12.1 deletion syndrome, 520kb"
BMGC_DS13807,BMG_DS053568,"IMMUNODEFICIENCY, COMMON VARIABLE, 1 | common variable immunodeficiency 1 | immunodeficiency, common variable, 1"
BMGC_DS13808,BMG_DS053569,"DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED"
BMGC_DS13809,BMG_DS053570,HYPERALPHALIPOPROTEINEMIA 1
BMGC_DS13810,BMG_DS053571,keloid formation
BMGC_DS13811,BMG_DS053572,"LARYNGOSPASM, SEVERE NEONATAL EPISODIC | laryngospasm, severe neonatal episodic"
BMGC_DS13812,BMG_DS053574,"DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT"
BMGC_DS13813,BMG_DS053575,"MELORHEOSTOSIS, ISOLATED | melorheostosis"
BMGC_DS13814,BMG_DS053577,Melorheostosis with Osteopoikilosis | melorheostosis with osteopoikilosis
BMGC_DS13815,BMG_DS053579,"MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) | mitochondrial DNA depletion syndrome, myopathic form"
BMGC_DS13816,BMG_DS053580,7q11.23 duplication syndrome | CHROMOSOME 7q11.23 TRIPLICATION SYNDROME
BMGC_DS13817,BMG_DS053582,POLYCYSTIC KIDNEY DISEASE 1 | polycystic kidney disease 1
BMGC_DS13818,BMG_DS053583,"amyotrophic lateral sclerosis, susceptibility to, 13"
BMGC_DS13819,BMG_DS053585,"PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL | palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"
BMGC_DS13820,BMG_DS053586,ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | Antley-Bixler syndrome with disordered steroidogenesis | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
BMGC_DS13821,BMG_DS053587,BARDET-BIEDL SYNDROME 15 | Bardet-Biedl syndrome 15
BMGC_DS13822,BMG_DS053588,"CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB | chromosome 16p11.2 deletion syndrome, 593-kb | proximal 16p11.2 microdeletion syndrome"
BMGC_DS13823,BMG_DS053589,"IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS | lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"
BMGC_DS13824,BMG_DS053590,"FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED | amyotrophic lateral sclerosis type 10"
BMGC_DS13825,BMG_DS053591,"FTLD-TDP, TARDBP-RELATED | amyotrophic lateral sclerosis type 10"
BMGC_DS13826,BMG_DS053592,MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
BMGC_DS13827,BMG_DS053593,"AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE | agammaglobulinemia 6 | agammaglobulinemia 6, autosomal recessive"
BMGC_DS13828,BMG_DS053594,RETINITIS PIGMENTOSA 53 | retinitis pigmentosa 53
BMGC_DS13829,BMG_DS053595,CHROMOSOME 6q24-q25 DELETION SYNDROME | chromosome 6q24-q25 deletion syndrome
BMGC_DS13830,BMG_DS053596,COMPLEMENT COMPONENT C1r/C1s DEFICIENCY | complement component C1r/C1s deficiency
BMGC_DS13831,BMG_DS053597,COMPLEMENT COMPONENT 2 DEFICIENCY | complement component 2 deficiency
BMGC_DS13832,BMG_DS053598,"AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT"
BMGC_DS13833,BMG_DS053599,"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY | congenital nonspherocytic hemolytic anemia 5 | non-spherocytic hemolytic anemia due to hexokinase deficiency"
BMGC_DS13834,BMG_DS053600,"HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED"
BMGC_DS13835,BMG_DS053602,"IMMUNODEFICIENCY, COMMON VARIABLE, 2 | common variable immunodeficiency 2 | immunodeficiency, common variable, 2"
BMGC_DS13836,BMG_DS053604,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | congenital muscular dystrophy-dystroglycanopathy type A2 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2"
BMGC_DS13837,BMG_DS053605,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3 | muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | muscular dystrophy-dystroglycanopathy type B3"
BMGC_DS13838,BMG_DS053606,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | congenital muscular dystrophy-dystroglycanopathy type A5 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5"
BMGC_DS13839,BMG_DS053607,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6"
BMGC_DS13840,BMG_DS053608,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 | muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | muscular dystrophy-dystroglycanopathy type B2"
BMGC_DS13841,BMG_DS053609,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 | autosomal recessive limb-girdle muscular dystrophy type 2O"
BMGC_DS13842,BMG_DS053610,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | autosomal recessive limb-girdle muscular dystrophy type 2N"
BMGC_DS13843,BMG_DS053611,NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 | nephronophthisis-like nephropathy 1
BMGC_DS13844,BMG_DS053614,"EPILEPSY, HOT WATER, 2 | epilepsy, hot water, 2 | hot water epilepsy 2"
BMGC_DS13845,BMG_DS053616,"pancreatic cancer, susceptibility to, 2"
BMGC_DS13846,BMG_DS053617,"pancreatic cancer, susceptibility to, 3"
BMGC_DS13847,BMG_DS053618,"MONONEUROPATHY OF THE MEDIAN NERVE, MILD | susceptibility to mononeuropathy of the median nerve, mild"
BMGC_DS13848,BMG_DS053619,CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME | chromosome 17q23.1-q23.2 deletion syndrome
BMGC_DS13849,BMG_DS053620,"MODY10 (maturity-onset diabetes of the young type 10) | Maturity-onset diabetes of the young, type 10 | Maturity-onset diabetes of the young, type 10 (disorder) | maturity-onset diabetes of the young type 10"
BMGC_DS13850,BMG_DS053621,"MODY11 (maturity-onset diabetes of the young type 11) | Maturity-onset diabetes of the young, type 11 | Maturity-onset diabetes of the young, type 11 (disorder) | maturity-onset diabetes of the young type 11"
BMGC_DS13851,BMG_DS053622,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4 | autosomal dominant distal hereditary motor neuronopathy 4 | neuronopathy, distal hereditary motor, type 2C"
BMGC_DS13852,BMG_DS053623,"BRACHYDACTYLY, TYPE E2 | brachydactyly type E2"
BMGC_DS13853,BMG_DS053624,"AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM | syndromic multisystem autoimmune disease due to ITCH deficiency"
BMGC_DS13854,BMG_DS053625,"fatty liver disease, nonalcoholic, susceptibility to, 2"
BMGC_DS13855,BMG_DS053626,FANCONI RENOTUBULAR SYNDROME 2 | Fanconi renotubular syndrome 2
BMGC_DS13856,BMG_DS053627,"FANCONI ANEMIA, COMPLEMENTATION GROUP O | Fanconi anemia complementation group O"
BMGC_DS13857,BMG_DS053628,"DEAFNESS, AUTOSOMAL RECESSIVE 84A | autosomal recessive nonsyndromic hearing loss 84A"
BMGC_DS13858,BMG_DS053629,BIRBECK GRANULE DEFICIENCY | Birbeck granule deficiency
BMGC_DS13859,BMG_DS053630,WARSAW BREAKAGE SYNDROME | Warsaw breakage syndrome
BMGC_DS13860,BMG_DS053631,"breast-ovarian cancer, familial, susceptibility to, 3"
BMGC_DS13861,BMG_DS053634,"MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY | microcephaly, seizures, and developmental delay"
BMGC_DS13862,BMG_DS053635,"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | arthrogryposis, renal dysfunction, and cholestasis 2"
BMGC_DS13863,BMG_DS053636,CHROMOSOME 15q24 DELETION SYNDROME | chromosome 15q24 deletion syndrome
BMGC_DS13864,BMG_DS053637,CHROMOSOME 15q24 DUPLICATION SYNDROME
BMGC_DS13865,BMG_DS053639,"autism, susceptibility to, 16"
BMGC_DS13866,BMG_DS053640,OGUCHI DISEASE 2 | Oguchi disease-2
BMGC_DS13867,BMG_DS053641,"ESOPHAGITIS, EOSINOPHILIC, 2 | esophagitis, eosinophilic, 2"
BMGC_DS13868,BMG_DS053642,"CARDIOMYOPATHY, DILATED, 1R | dilated cardiomyopathy 1R"
BMGC_DS13869,BMG_DS053643,LEFT VENTRICULAR NONCOMPACTION 4 | left ventricular noncompaction 4
BMGC_DS13870,BMG_DS053644,LEFT VENTRICULAR NONCOMPACTION 5 | left ventricular noncompaction 5
BMGC_DS13871,BMG_DS053645,RETINITIS PIGMENTOSA 54 | retinitis pigmentosa 54
BMGC_DS13872,BMG_DS053646,AMYOTROPHIC LATERAL SCLEROSIS 12 | amyotrophic lateral sclerosis type 12
BMGC_DS13873,BMG_DS053647,"autism, susceptibility to, 17"
BMGC_DS13874,BMG_DS053648,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE | intellectual disability, autosomal dominant 20 | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"
BMGC_DS13875,BMG_DS053649,"CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB | chromosome 16p11.2 deletion syndrome, 220-kb | distal 16p11.2 microdeletion syndrome"
BMGC_DS13876,BMG_DS053650,FRONTONASAL DYSPLASIA 2 | frontonasal dysplasia 2 | frontonasal dysplasia with alopecia and genital anomaly
BMGC_DS13877,BMG_DS053651,"DEAFNESS, AUTOSOMAL RECESSIVE 91 | autosomal recessive nonsyndromic hearing loss 91"
BMGC_DS13878,BMG_DS053652,"FOXG1 syndrome | FOXG1 syndrome (disorder) | Rett syndrome, congenital variant"
BMGC_DS13879,BMG_DS053653,FRONTONASAL DYSPLASIA 3 | frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | frontonasal dysplasia 3
BMGC_DS13880,BMG_DS053654,CHROMOSOME 14q11-q22 DELETION SYNDROME | chromosome 14q11-q22 deletion syndrome
BMGC_DS13881,BMG_DS053655,CHROMOSOME 16p13.3 DUPLICATION SYNDROME | chromosome 16p13.3 duplication syndrome
BMGC_DS13882,BMG_DS053656,RETINITIS PIGMENTOSA 51 | retinitis pigmentosa 51
BMGC_DS13883,BMG_DS053657,"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY | congenital nonspherocytic hemolytic anemia 4 | hemolytic anemia due to glucophosphate isomerase deficiency"
BMGC_DS13884,BMG_DS053658,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 | developmental and epileptic encephalopathy 5 | developmental and epileptic encephalopathy, 5"
BMGC_DS13885,BMG_DS053659,LONG QT SYNDROME 13 | long QT syndrome 13
BMGC_DS13886,BMG_DS053660,"Antibody Deficiency due to Defect in CD19 | immunodeficiency, common variable, 3"
BMGC_DS13887,BMG_DS053661,"IMMUNODEFICIENCY, COMMON VARIABLE, 4 | common variable immunodeficiency 4 | immunodeficiency, common variable, 4"
BMGC_DS13888,BMG_DS053662,"IMMUNODEFICIENCY, COMMON VARIABLE, 5 | common variable immunodeficiency 5 | immunodeficiency, common variable, 5"
BMGC_DS13889,BMG_DS053663,"IMMUNODEFICIENCY, COMMON VARIABLE, 6 | common variable immunodeficiency 6 | immunodeficiency, common variable, 6"
BMGC_DS13890,BMG_DS053664,"AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE | agammaglobulinemia 2 | agammaglobulinemia 2, autosomal recessive"
BMGC_DS13891,BMG_DS053665,"AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE | agammaglobulinemia 3 | agammaglobulinemia 3, autosomal recessive"
BMGC_DS13892,BMG_DS053666,"AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE | agammaglobulinemia 4 | agammaglobulinemia 4, autosomal recessive"
BMGC_DS13893,BMG_DS053667,"AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT | agammaglobulinemia 5 | agammaglobulinemia 5, autosomal dominant"
BMGC_DS13894,BMG_DS053668,GLYCOGEN STORAGE DISEASE XV | glycogen storage disease XV
BMGC_DS13895,BMG_DS053669,CHROMOSOME 4q21 DELETION SYNDROME | chromosome 4q21 deletion syndrome
BMGC_DS13896,BMG_DS053670,"MICROPHTHALMIA, ISOLATED 6 | isolated microphthalmia 6"
BMGC_DS13897,BMG_DS053672,"DERMATITIS, ATOPIC, 8 | atopic dermatitis 8 | dermatitis, atopic, 8"
BMGC_DS13898,BMG_DS053673,"DERMATITIS, ATOPIC, 9 | atopic dermatitis 9 | dermatitis, atopic, 9"
BMGC_DS13899,BMG_DS053674,myeloid neoplasm associated with FGFR1 rearrangement
BMGC_DS13900,BMG_DS053675,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H | autosomal dominant limb-girdle muscular dystrophy type 1H"
BMGC_DS13901,BMG_DS053676,CHROMOSOME 6q11-q14 DELETION SYNDROME | chromosome 6q11-q14 deletion syndrome
BMGC_DS13902,BMG_DS053677,CHROMOSOME 6q13-q14 DELETION SYNDROME | chromosome 6q11-q14 deletion syndrome
BMGC_DS13903,BMG_DS053679,NEPHRONOPHTHISIS 11 | nephronophthisis 11
BMGC_DS13904,BMG_DS053680,"autoimmune disease, susceptibility to, 6"
BMGC_DS13905,BMG_DS053681,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 | combined oxidative phosphorylation defect type 7 | combined oxidative phosphorylation deficiency 7
BMGC_DS13906,BMG_DS053682,"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 | myopathy, lactic acidosis, and sideroblastic anemia 2"
BMGC_DS13907,BMG_DS053683,CBL-related disorder
BMGC_DS13908,BMG_DS053684,CHROMOSOME 2p12-p11.2 DELETION SYNDROME | chromosome 2p12-p11.2 deletion syndrome
BMGC_DS13909,BMG_DS053685,ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 | ectodermal dysplasia-syndactyly syndrome 1
BMGC_DS13910,BMG_DS053686,RETINITIS PIGMENTOSA 55 | retinitis pigmentosa 55
BMGC_DS13911,BMG_DS053687,ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 | ectodermal dysplasia-cutaneous syndactyly syndrome
BMGC_DS13912,BMG_DS053688,RETINITIS PIGMENTOSA 56 | retinitis pigmentosa 56
BMGC_DS13913,BMG_DS053689,RETINITIS PIGMENTOSA 57 | retinitis pigmentosa 57
BMGC_DS13914,BMG_DS053690,OCCULT MACULAR DYSTROPHY | occult macular dystrophy
BMGC_DS13915,BMG_DS053692,early repolarization associated with ventricular fibrillation
BMGC_DS13916,BMG_DS053693,CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | chromosome 4Q32.1-q32.2 triplication syndrome
BMGC_DS13917,BMG_DS053694,"CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB | chromosome 16p12.2-p11.2 deletion syndrome"
BMGC_DS13918,BMG_DS053695,FORSYTHE-WAKELING SYNDROME | forsythe-wakeling syndrome
BMGC_DS13919,BMG_DS053696,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 | epilepsy, familial adult myoclonic, 3 | familial adult myoclonic epilepsy 3"
BMGC_DS13920,BMG_DS053697,CRANIOECTODERMAL DYSPLASIA 2 | cranioectodermal dysplasia 2
BMGC_DS13921,BMG_DS053698,"Lymphedema, posterior choanal atresia syndrome | Lymphedema, posterior choanal atresia syndrome (disorder) | Lymphoedema, posterior choanal atresia syndrome | lymphedema-posterior choanal atresia syndrome"
BMGC_DS13922,BMG_DS053699,CDG2I - carbohydrate deficient glycoprotein syndrome type IIi | COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation | COG5 congenital disorder of glycosylation | COG5-congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type IIi | Component of oligomeric golgi complex 5 congenital disorder of glycosylation | Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) | Congenital disorder of glycosylation type IIi
BMGC_DS13923,BMG_DS053700,SENIOR-LOKEN SYNDROME 7 | Senior-Loken syndrome 7
BMGC_DS13924,BMG_DS053701,Primary hyperoxaluria type 3 | Primary hyperoxaluria type III | Primary hyperoxaluria type III (disorder) | primary hyperoxaluria type 3
BMGC_DS13925,BMG_DS053702,RETINITIS PIGMENTOSA 58 | retinitis pigmentosa 58
BMGC_DS13926,BMG_DS053703,CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME | familial clubfoot due to 17q23.1q23.2 microduplication
BMGC_DS13927,BMG_DS053705,"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 | factor 5 and Factor VIII, combined deficiency of, 2"
BMGC_DS13928,BMG_DS053707,Cocoon syndrome | Fetal encasement syndrome | Fetal encasement syndrome (disorder) | Foetal encasement syndrome | cocoon syndrome
BMGC_DS13929,BMG_DS053709,19p13.13 microdeletion syndrome | 19p13.13 microdeletion syndrome (disorder) | Chromosome 19p13.13 deletion syndrome | Monosomy 19p13.13 | chromosome 19p13.13 deletion syndrome
BMGC_DS13930,BMG_DS053710,CHROMOSOME 19p13.13 DUPLICATION SYNDROME | chromosome 19p13.13 deletion syndrome
BMGC_DS13931,BMG_DS053711,"Hereditary sensory autonomic neuropathy type IC | Hereditary sensory autonomic neuropathy type IC (disorder) | neuropathy, hereditary sensory and autonomic, type 1C"
BMGC_DS13932,BMG_DS053712,"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B | Charcot-Marie-Tooth disease recessive intermediate B"
BMGC_DS13933,BMG_DS053713,"CARDIOMYOPATHY, DILATED, 1GG | dilated cardiomyopathy 1GG"
BMGC_DS13934,BMG_DS053714,"Parkinson disease 5, autosomal dominant, susceptibility to"
BMGC_DS13935,BMG_DS053715,"SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 48"
BMGC_DS13936,BMG_DS053716,C1Q deficiency | C1q DEFICIENCY 1
BMGC_DS13937,BMG_DS053717,D-2-HYDROXYGLUTARIC ACIDURIA 2 | D-2-hydroxyglutaric aciduria 2 | d-2-hydroxyglutaric aciduria 2
BMGC_DS13938,BMG_DS053718,Brain calcification Rajab type | Brain calcification Rajab type (disorder) | Rajab interstitial lung disease with brain calcifications | Rajab syndrome
BMGC_DS13939,BMG_DS053719,CONE-ROD DYSTROPHY 15 | cone-rod dystrophy 15
BMGC_DS13940,BMG_DS053720,"ALG11-congenital disorder of glycosylation | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | congenital disorder of glycosylation Ip"
BMGC_DS13941,BMG_DS053721,MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | mitochondrial DNA depletion syndrome 4b
BMGC_DS13942,BMG_DS053722,"MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"
BMGC_DS13943,BMG_DS053723,"Anterior maxillary protrusion, strabismus, intellectual disability syndrome | Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | MRAMS (mental retardation, anterior maxillary protrusion, strabismus) syndrome | MRAMS syndrome | intellectual disability, anterior maxillary protrusion, and strabismus"
BMGC_DS13944,BMG_DS053724,"SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE | spastic ataxia 4"
BMGC_DS13945,BMG_DS053725,Congenital dyserythropoietic anaemia type 4 | Congenital dyserythropoietic anaemia type IV | Congenital dyserythropoietic anemia type 4 | Congenital dyserythropoietic anemia type IV | Congenital dyserythropoietic anemia type IV (disorder) | congenital dyserythropoietic anemia type 4 | congenital dyserythropoietic anemia type IVa
BMGC_DS13946,BMG_DS053726,VESICOURETERAL REFLUX 3 | vesicoureteral reflux 3
BMGC_DS13947,BMG_DS053727,"BBIS - Beaulieu Boycott Innes syndrome | Beaulieu Boycott Innes syndrome | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder) | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"
BMGC_DS13948,BMG_DS053728,CHROMOSOME 2q31.1 DUPLICATION SYNDROME | chromosome 2q31.1 duplication syndrome
BMGC_DS13949,BMG_DS053729,RUBINSTEIN-TAYBI SYNDROME 2 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
BMGC_DS13950,BMG_DS053730,"SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE | spondylocostal dysostosis 4 | spondylocostal dysostosis 4, autosomal recessive"
BMGC_DS13951,BMG_DS053731,Long Qt Syndrome 2 | long QT syndrome 2
BMGC_DS13952,BMG_DS053732,MAMMARY-DIGITAL-NAIL SYNDROME | mammary-digital-nail syndrome
BMGC_DS13953,BMG_DS053733,Long Qt Syndrome 6 | long QT syndrome 6
BMGC_DS13954,BMG_DS053734,"Cardiomyopathy, Dilated, 1V | dilated cardiomyopathy 1V"
BMGC_DS13955,BMG_DS053735,"KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT | Klippel-Feil syndrome 3 | Klippel-Feil syndrome 3, autosomal dominant"
BMGC_DS13956,BMG_DS053736,"microphthalmia, isolated, with coloboma 6"
BMGC_DS13957,BMG_DS053737,"MICROPHTHALMIA, ISOLATED 7 | isolated microphthalmia 7"
BMGC_DS13958,BMG_DS053738,NOONAN SYNDROME 7 | Noonan syndrome 7
BMGC_DS13959,BMG_DS053739,LEOPARD SYNDROME 3 | LEOPARD syndrome 3 | Noonan syndrome with multiple lentigines 3
BMGC_DS13960,BMG_DS053740,"NEUROPATHY, HEREDITARY SENSORY, TYPE ID | hereditary sensory neuropathy type 1D | neuropathy, hereditary sensory, type 1D"
BMGC_DS13961,BMG_DS053741,Progressive polyneuropathy with bilateral striatal necrosis | Progressive polyneuropathy with bilateral striatal necrosis (disorder) | progressive demyelinating neuropathy with bilateral striatal necrosis
BMGC_DS13962,BMG_DS053742,"Hirschsprung disease, susceptibility to, 3"
BMGC_DS13963,BMG_DS053743,"Hirschsprung disease, susceptibility to, 4"
BMGC_DS13964,BMG_DS053744,TREACHER COLLINS SYNDROME 2 | Treacher Collins syndrome 2
BMGC_DS13965,BMG_DS053745,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | developmental and epileptic encephalopathy 7 | developmental and epileptic encephalopathy, 7"
BMGC_DS13966,BMG_DS053746,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 | developmental and epileptic encephalopathy 11 | developmental and epileptic encephalopathy, 11"
BMGC_DS13967,BMG_DS053747,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12 | developmental and epileptic encephalopathy 12 | developmental and epileptic encephalopathy, 12"
BMGC_DS13968,BMG_DS053748,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q | autosomal recessive limb-girdle muscular dystrophy type 2Q"
BMGC_DS13969,BMG_DS053749,Deficiency of sterol carrier protein X | Deficiency of sterol carrier protein X (disorder) | SCPX (sterol carrier protein X) deficiency | SCPx (sterol carrier protein x) deficiency | Sterol carrier protein X deficiency | Sterol carrier protein-2 deficiency | sterol carrier protein 2 deficiency
BMGC_DS13970,BMG_DS053750,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 | autosomal recessive spinocerebellar ataxia 10"
BMGC_DS13971,BMG_DS053752,"HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS | porencephaly-microcephaly-bilateral congenital cataract syndrome"
BMGC_DS13972,BMG_DS053753,Retinitis Pigmentosa 4 | retinitis pigmentosa 4
BMGC_DS13973,BMG_DS053754,"ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE | acne inversa, familial, 2"
BMGC_DS13974,BMG_DS053755,"ACNE INVERSA, FAMILIAL, 3 | acne inversa, familial, 3"
BMGC_DS13975,BMG_DS053756,"Cardiomyopathy, Dilated, 1t | obsolete dilated cardiomyopathy 1T"
BMGC_DS13976,BMG_DS053757,"ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE | Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | congenital adrenal insufficiency"
BMGC_DS13977,BMG_DS053758,"SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 51"
BMGC_DS13978,BMG_DS053759,"HETEROTAXY, VISCERAL, 4, AUTOSOMAL | heterotaxy, visceral, 4, autosomal"
BMGC_DS13979,BMG_DS053760,Deficiency of S-adenosylhomocysteine hydrolase | Deficiency of S-adenosylhomocysteine hydrolase (disorder) | S-adenosylhomocysteine hydrolase deficiency | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
BMGC_DS13980,BMG_DS053761,RETINITIS PIGMENTOSA 49 | retinitis pigmentosa 49
BMGC_DS13981,BMG_DS053762,"Macular Degeneration, Age-Related, 6 | age related macular degeneration 6"
BMGC_DS13982,BMG_DS053763,RETINITIS PIGMENTOSA 47 | retinitis pigmentosa 47
BMGC_DS13983,BMG_DS053764,"FADD-related immunodeficiency | IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION"
BMGC_DS13984,BMG_DS053765,"MACULAR DEGENERATION, AGE-RELATED, 5 | age related macular degeneration 5"
BMGC_DS13985,BMG_DS053766,"46,XY SEX REVERSAL 6 | 46,XY sex reversal 6"
BMGC_DS13986,BMG_DS053768,RETINITIS PIGMENTOSA 45 | retinitis pigmentosa 45
BMGC_DS13987,BMG_DS053769,RETINITIS PIGMENTOSA 44 | retinitis pigmentosa 44
BMGC_DS13988,BMG_DS053770,CHROMOSOME 17p13.1 DELETION SYNDROME | chromosome 17p13.1 deletion syndrome
BMGC_DS13989,BMG_DS053771,"MACULAR DEGENERATION, AGE-RELATED, 8 | age related macular degeneration 8"
BMGC_DS13990,BMG_DS053772,"COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE | complement component 3 deficiency"
BMGC_DS13991,BMG_DS053773,"AORTIC ANEURYSM, FAMILIAL THORACIC 7 | aortic aneurysm, familial thoracic 7"
BMGC_DS13992,BMG_DS053774,Complement Component C1s Deficiency | complement component C1s deficiency
BMGC_DS13993,BMG_DS053775,"MACULAR DEGENERATION, AGE-RELATED, 12 | age related macular degeneration 12"
BMGC_DS13994,BMG_DS053776,"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II | type II complement component 8 deficiency"
BMGC_DS13995,BMG_DS053777,"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I | type I complement component 8 deficiency"
BMGC_DS13996,BMG_DS053778,MASP2 Deficiency | immunodeficiency due to MASP-2 deficiency
BMGC_DS13997,BMG_DS053779,Retinitis Pigmentosa 20 | retinitis pigmentosa 20
BMGC_DS13998,BMG_DS053780,LOEYS-DIETZ SYNDROME 3 | Loeys-Dietz syndrome 3 | aneurysm-osteoarthritis syndrome
BMGC_DS13999,BMG_DS053781,IMMUNODEFICIENCY 31B | immunodeficiency 31B
BMGC_DS14000,BMG_DS053782,MEIER-GORLIN SYNDROME 2 | Meier-Gorlin syndrome 2
BMGC_DS14001,BMG_DS053783,RETINITIS PIGMENTOSA 40 | retinitis pigmentosa 40
BMGC_DS14002,BMG_DS053784,MEIER-GORLIN SYNDROME 3 | Meier-Gorlin syndrome 3
BMGC_DS14003,BMG_DS053785,MEIER-GORLIN SYNDROME 4 | Meier-Gorlin syndrome 4
BMGC_DS14004,BMG_DS053786,MEIER-GORLIN SYNDROME 5 | Meier-Gorlin syndrome 5
BMGC_DS14005,BMG_DS053787,"CILIARY DYSKINESIA, PRIMARY, 14 | primary ciliary dyskinesia 14"
BMGC_DS14006,BMG_DS053788,"CILIARY DYSKINESIA, PRIMARY, 15 | primary ciliary dyskinesia 15"
BMGC_DS14007,BMG_DS053789,RETINITIS PIGMENTOSA 39 | retinitis pigmentosa 39
BMGC_DS14008,BMG_DS053790,RETINITIS PIGMENTOSA 43 | retinitis pigmentosa 43
BMGC_DS14009,BMG_DS053791,"PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | pontocerebellar hypoplasia type 2D"
BMGC_DS14010,BMG_DS053793,"Bile Acid Synthesis Defect, Congenital, 3 | congenital bile acid synthesis defect 3"
BMGC_DS14011,BMG_DS053794,SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY | asphyxiating thoracic dystrophy 4
BMGC_DS14012,BMG_DS053795,NEPHRONOPHTHISIS 12 | nephronophthisis 12
BMGC_DS14013,BMG_DS053796,SECKEL SYNDROME 5 | Seckel syndrome 5
BMGC_DS14014,BMG_DS053797,NEPHRONOPHTHISIS 9 | nephronophthisis 9
BMGC_DS14015,BMG_DS053798,C9 Deficiency | complement component 9 deficiency
BMGC_DS14016,BMG_DS053799,RETINITIS PIGMENTOSA 48 | retinitis pigmentosa 48
BMGC_DS14017,BMG_DS053800,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8 | generalized epilepsy with febrile seizures plus 8 | generalized epilepsy with febrile seizures plus, type 8"
BMGC_DS14018,BMG_DS053801,LEBER CONGENITAL AMAUROSIS 7 | Leber congenital amaurosis 7
BMGC_DS14019,BMG_DS053802,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D | congenital stationary night blindness 1D"
BMGC_DS14020,BMG_DS053803,Multisystemic smooth muscle dysfunction syndrome | Multisystemic smooth muscle dysfunction syndrome (disorder) | multisystemic smooth muscle dysfunction syndrome
BMGC_DS14021,BMG_DS053804,LEBER CONGENITAL AMAUROSIS 8 | Leber congenital amaurosis 8
BMGC_DS14022,BMG_DS053805,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 | hypertrophic cardiomyopathy 16"
BMGC_DS14023,BMG_DS053806,Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency | constitutional megaloblastic anemia with severe neurologic disease
BMGC_DS14024,BMG_DS053807,LEBER CONGENITAL AMAUROSIS 15 | Leber congenital amaurosis 15
BMGC_DS14025,BMG_DS053808,"HUPRA syndrome | Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome | Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder) | hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"
BMGC_DS14026,BMG_DS053809,"OSTEOGENESIS IMPERFECTA, TYPE X | osteogenesis imperfecta type 10"
BMGC_DS14027,BMG_DS053810,"OSTEOGENESIS IMPERFECTA, TYPE XI | osteogenesis imperfecta type 11"
BMGC_DS14028,BMG_DS053811,FUCOSYLTRANSFERASE 6 DEFICIENCY | fucosyltransferase 6 deficiency
BMGC_DS14029,BMG_DS053812,"congenital heart defects, multiple types, 6"
BMGC_DS14030,BMG_DS053813,OROFACIAL CLEFT 13 | orofacial cleft 13
BMGC_DS14031,BMG_DS053814,FICOLIN 3 DEFICIENCY | immunodeficiency due to ficolin3 deficiency
BMGC_DS14032,BMG_DS053815,RETINITIS PIGMENTOSA 59 | retinitis pigmentosa 59
BMGC_DS14033,BMG_DS053816,RETINITIS PIGMENTOSA 38 | retinitis pigmentosa 38
BMGC_DS14034,BMG_DS053817,"FEBRILE SEIZURES, FAMILIAL, 3B | febrile seizures, familial, 3b"
BMGC_DS14035,BMG_DS053818,"DEAFNESS, AUTOSOMAL RECESSIVE 61 | autosomal recessive nonsyndromic hearing loss 61"
BMGC_DS14036,BMG_DS053819,"Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction | Hirschsprung disease, cardiac defects, and autonomic dysfunction"
BMGC_DS14037,BMG_DS053820,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 | hypertrophic cardiomyopathy 17"
BMGC_DS14038,BMG_DS053821,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 | hypertrophic cardiomyopathy 18"
BMGC_DS14039,BMG_DS053822,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 | hypertrophic cardiomyopathy 20"
BMGC_DS14040,BMG_DS053823,"CARDIOMYOPATHY, DILATED, 1HH | dilated cardiomyopathy 1HH"
BMGC_DS14041,BMG_DS053824,"HYPOMAGNESEMIA 6, RENAL | renal hypomagnesemia 6"
BMGC_DS14042,BMG_DS053825,chromosome 13q14 deletion syndrome
BMGC_DS14043,BMG_DS053826,"Obesity, Hyperphagia, and Developmental Delay | obesity, hyperphagia, and developmental delay"
BMGC_DS14044,BMG_DS053827,CATARACT 36 | cataract 36
BMGC_DS14045,BMG_DS053828,SPINOCEREBELLAR ATAXIA 32 | spinocerebellar ataxia type 32
BMGC_DS14046,BMG_DS053829,"LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS | lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis"
BMGC_DS14047,BMG_DS053830,"DEAFNESS, AUTOSOMAL RECESSIVE 89 | autosomal recessive nonsyndromic hearing loss 89"
BMGC_DS14048,BMG_DS053831,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | megalencephalic leukoencephalopathy with subcortical cysts 2A
BMGC_DS14049,BMG_DS053832,"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | megalencephalic leukoencephalopathy with subcortical cysts 2B | megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability"
BMGC_DS14050,BMG_DS053833,ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 3 | alopecia-intellectual disability syndrome 3 | alopecia-mental retardation syndrome 3
BMGC_DS14051,BMG_DS053834,"PARASOMNIA, SLEEPWALKING TYPE | parasomnia, sleepwalking type"
BMGC_DS14052,BMG_DS053835,"PARASOMNIA, SLEEP TERRORS TYPE | parasomnia, sleep terrors type"
BMGC_DS14053,BMG_DS053836,"IgA nephropathy, susceptibility to, 2"
BMGC_DS14054,BMG_DS053837,OKT4 EPITOPE DEFICIENCY | Okt4 epitope deficiency
BMGC_DS14055,BMG_DS053838,schizophrenia 15
BMGC_DS14056,BMG_DS053839,"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 | amyloidosis, primary localized cutaneous, 2 | primary localized cutaneous amyloidosis 2"
BMGC_DS14057,BMG_DS053840,"CANDIDIASIS, FAMILIAL, 6 | candidiasis, familial, 6"
BMGC_DS14058,BMG_DS053841,SPERMATOGENIC FAILURE 8 | spermatogenic failure 8
BMGC_DS14059,BMG_DS053842,SPERMATOGENIC FAILURE 9 | spermatogenic failure 9
BMGC_DS14060,BMG_DS053843,SCHIZOPHRENIA 16 | schizophrenia 16
BMGC_DS14061,BMG_DS053844,"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | autosomal recessive chronic granulomatous disease 3 | granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3"
BMGC_DS14062,BMG_DS053845,"MYOPIA 19, AUTOSOMAL DOMINANT | myopia 19, autosomal dominant"
BMGC_DS14063,BMG_DS053846,"intellectual disability, autosomal dominant 6"
BMGC_DS14064,BMG_DS053847,"melanoma, cutaneous malignant, susceptibility to, 6"
BMGC_DS14065,BMG_DS053848,"CYANOSIS, TRANSIENT NEONATAL | cyanosis, transient neonatal"
BMGC_DS14066,BMG_DS053849,"ATRIAL FIBRILLATION, FAMILIAL, 9 | atrial fibrillation, familial, 9"
BMGC_DS14067,BMG_DS053850,HYPOTRICHOSIS 3 | hypotrichosis 3
BMGC_DS14068,BMG_DS053851,"OSTEOGENESIS IMPERFECTA, TYPE XII | osteogenesis imperfecta type 12"
BMGC_DS14069,BMG_DS053852,RETINITIS PIGMENTOSA 60 | retinitis pigmentosa 60
BMGC_DS14070,BMG_DS053853,"PITUITARY HORMONE DEFICIENCY, COMBINED, 6 | combined pituitary hormone deficiency 6 | pituitary hormone deficiency, combined, 6"
BMGC_DS14071,BMG_DS053854,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 | autosomal recessive dyskeratosis congenita 2 | dyskeratosis congenita, autosomal recessive 2"
BMGC_DS14072,BMG_DS053855,"dyskeratosis congenita, autosomal recessive 3"
BMGC_DS14073,BMG_DS053856,"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 | autosomal dominant dyskeratosis congenita 2 | dyskeratosis congenita, autosomal dominant 2"
BMGC_DS14074,BMG_DS053857,autosomal recessive dyskeratosis congenita 4
BMGC_DS14075,BMG_DS053858,"dyskeratosis congenita, autosomal dominant 3"
BMGC_DS14076,BMG_DS053859,NGPS - Nestor Guillermo progeria syndrome | Nestor Guillermo progeria syndrome | Nestor Guillermo progeria syndrome (disorder) | Nestor-Guillermo progeria syndrome
BMGC_DS14077,BMG_DS053860,"CILIARY DYSKINESIA, PRIMARY, 16 | primary ciliary dyskinesia 16"
BMGC_DS14078,BMG_DS053861,LISSENCEPHALY 4 WITH MICROCEPHALY | lissencephaly 4
BMGC_DS14079,BMG_DS053862,"intellectual disability, autosomal recessive 14"
BMGC_DS14080,BMG_DS053863,"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 | catecholaminergic polymorphic ventricular tachycardia 3"
BMGC_DS14081,BMG_DS053864,"ATRIAL FIBRILLATION, FAMILIAL, 10 | atrial fibrillation, familial, 10"
BMGC_DS14082,BMG_DS053865,PROTEIN Z DEFICIENCY | protein Z deficiency
BMGC_DS14083,BMG_DS053866,hyperlipidemia due to hepatic triglyceride lipase deficiency
BMGC_DS14084,BMG_DS053867,Apolipoprotein C-III Deficiency | apolipoprotein C-III deficiency | apolipoprotein c-III deficiency
BMGC_DS14085,BMG_DS053868,MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) | mitochondrial DNA depletion syndrome 9
BMGC_DS14086,BMG_DS053869,"HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING"
BMGC_DS14087,BMG_DS053870,"CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA | Hennekam-Beemer syndrome"
BMGC_DS14088,BMG_DS053872,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 | congenital muscular dystrophy-dystroglycanopathy type A3 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3"
BMGC_DS14089,BMG_DS053873,CONGENITAL MYOPATHY 11 | congenital myopathy 11
BMGC_DS14090,BMG_DS053874,"NEPHROTIC SYNDROME, TYPE 4 | nephrotic syndrome type 4 | nephrotic syndrome, type 4"
BMGC_DS14091,BMG_DS053875,"NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE | autosomal recessive congenital nystagmus | nystagmus, congenital, autosomal recessive"
BMGC_DS14092,BMG_DS053876,"BLOUNT DISEASE, ADOLESCENT | Blount disease, adolescent"
BMGC_DS14093,BMG_DS053877,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS | autosomal recessive Robinow syndrome"
BMGC_DS14094,BMG_DS053878,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY | autosomal recessive Robinow syndrome"
BMGC_DS14095,BMG_DS053879,ANTERIOR SEGMENT DYSGENESIS 7 | anterior segment dysgenesis 7
BMGC_DS14096,BMG_DS053880,"ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND IMPAIRED INTELLECTUAL DEVELOPMENT | ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability"
BMGC_DS14097,BMG_DS053882,"NYSTAGMUS 6, CONGENITAL, X-LINKED | congenital nystagmus 6 | nystagmus 6, congenital, X-linked"
BMGC_DS14098,BMG_DS053883,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 | combined oxidative phosphorylation deficiency 6 | severe X-linked mitochondrial encephalomyopathy
BMGC_DS14099,BMG_DS053884,"CK syndrome | CK syndrome (disorder) | X-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome"
BMGC_DS14100,BMG_DS053885,"46,XX SEX REVERSAL 3 | 46,XX sex reversal 3"
BMGC_DS14101,BMG_DS053886,"46,XX sex reversal 3 | CHROMOSOME Xq26 DELETION SYNDROME"
BMGC_DS14102,BMG_DS053887,"MACULAR DEGENERATION, ATROPHIC, X-LINKED | X-linked atrophic macular degeneration | macular degeneration, X-linked atrophic"
BMGC_DS14103,BMG_DS053889,"MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM | moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome"
BMGC_DS14104,BMG_DS053890,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED | congenital heart defects, multiple types, 1, X-linked"
BMGC_DS14105,BMG_DS053892,"DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL | mitochondrial non-syndromic sensorineural hearing loss | mitochondrial nonsyndromic sensorineural deafness"
BMGC_DS14106,BMG_DS053893,"MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT | mitochondrial myopathy with reversible cytochrome C oxidase deficiency"
BMGC_DS14107,BMG_DS053895,"RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA | proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome"
BMGC_DS14108,BMG_DS053898,D-2-HYDROXYGLUTARIC ACIDURIA 1 | D-2-hydroxyglutaric aciduria 1
BMGC_DS14109,BMG_DS053899,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY | multiple epiphyseal dysplasia 3"
BMGC_DS14110,BMG_DS053900,"USH1D/F, CDH23/PCDH15, DIGENIC"
BMGC_DS14111,BMG_DS053901,LEFT VENTRICULAR NONCOMPACTION 3
BMGC_DS14112,BMG_DS053902,"AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE | agammaglobulinemia 1 | autosomal recessive agammaglobulinemia 1"
BMGC_DS14113,BMG_DS053904,"melanoma, cutaneous malignant, susceptibility to, 8"
BMGC_DS14114,BMG_DS053906,BORNHOLM EYE DISEASE | X-linked cone dysfunction syndrome with myopia
BMGC_DS14115,BMG_DS053907,"SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | spondyloepimetaphyseal dysplasia, Maroteaux type | spondyloepiphyseal dysplasia Maroteaux type"
BMGC_DS14116,BMG_DS053908,"PARKINSON DISEASE, LATE-ONSET | late onset Parkinson's disease | late-onset Parkinson disease"
BMGC_DS14117,BMG_DS053909,"IgA nephropathy, susceptibility to, 1"
BMGC_DS14118,BMG_DS053910,"Cardiomyopathy, Dilated, 1u | dilated cardiomyopathy 1U"
BMGC_DS14119,BMG_DS053911,thrombophilia due to thrombin defect
BMGC_DS14120,BMG_DS053912,"DEAFNESS, AUTOSOMAL DOMINANT 51 | autosomal dominant nonsyndromic hearing loss 51"
BMGC_DS14121,BMG_DS053913,"FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | Fanconi anemia complementation group D2"
BMGC_DS14122,BMG_DS053914,"FANCONI ANEMIA, COMPLEMENTATION GROUP E | Fanconi anemia complementation group E"
BMGC_DS14123,BMG_DS053915,"DEAFNESS, AUTOSOMAL RECESSIVE 85 | autosomal recessive nonsyndromic hearing loss 85"
BMGC_DS14124,BMG_DS053919,Posterior reversible encephalopathy syndrome | Posterior reversible encephalopathy syndrome (disorder) | Reversible posterior leucoencephalopathy syndrome | Reversible posterior leukoencephalopathy syndrome
BMGC_DS14125,BMG_DS053931,Secondary spontaneous pneumothorax | Secondary spontaneous pneumothorax (disorder)
BMGC_DS14126,BMG_DS053938,hemoglobin H disease
BMGC_DS14127,BMG_DS053939,"Alpha thalassaemia, unspecified | Hydrops fetalis due to alpha thalassemia | alpha thalassemia-X-linked intellectual disability syndrome | alpha thalassemia-intellectual disability syndrome type 1 | hemoglobin H disease"
BMGC_DS14128,BMG_DS053956,Berger's disease | Focal glomerulonephritis | Primary IgA nephropathy | Primary immunoglobulin A nephropathy | Primary immunoglobulin A nephropathy (disorder)
BMGC_DS14129,BMG_DS053976,Recurrent lower respiratory tract infection | Recurrent lower respiratory tract infection (disorder)
BMGC_DS14130,BMG_DS053983,Sepsis caused by Gram negative bacteria | Sepsis caused by Gram negative bacteria (disorder) | Severe sepsis with acute organ dysfunction caused by Gram-negative bacteria
BMGC_DS14131,BMG_DS054033,Adult onset autosomal dominant leucodystrophy | Adult onset autosomal dominant leukodystrophy | Adult onset autosomal dominant leukodystrophy (disorder) | adult-onset autosomal dominant demyelinating leukodystrophy
BMGC_DS14132,BMG_DS054035,Sepsis caused by methicillin resistant Staphylococcus aureus | Sepsis caused by methicillin resistant Staphylococcus aureus (disorder) | Severe sepsis with acute organ dysfunction caused by methicillin resistant Staphylococcus aureus
BMGC_DS14133,BMG_DS054147,Chronic Pain | Widespread Chronic Pain
BMGC_DS14134,BMG_DS054149,Heterotaxy Syndrome | visceral heterotaxy
BMGC_DS14135,BMG_DS054150,right atrial isomerism
BMGC_DS14136,BMG_DS054155,Bilateral Slipped Capital Femoral Epiphyses | Slipped Capital Femoral Epiphyses | epiphysiolysis of the hip
BMGC_DS14137,BMG_DS054156,Slipped Capital Femoral Epiphyses | Unilateral Slipped Capital Femoral Epiphyses | epiphysiolysis of the hip
BMGC_DS14138,BMG_DS054167,Disseminated Fusariosis | Fusariosis | fusariosis
BMGC_DS14139,BMG_DS054168,Fusariosis | Pulmonary Fusariosis | fusariosis
BMGC_DS14140,BMG_DS054173,GALNS Deficiency | Mucopolysaccharidosis IV
BMGC_DS14141,BMG_DS054174,Osteopetrosis | Osteopetrosis Autosomal Dominant Type 2 | autosomal dominant osteopetrosis 2
BMGC_DS14142,BMG_DS054175,"Pott's Paraplegia | Tuberculosis, Spinal"
BMGC_DS14143,BMG_DS054176,"Niemann-Pick Disease, Type C | Niemann-Pick Disease, Type C1 | Niemann-Pick disease, type C1"
BMGC_DS14144,BMG_DS054180,"Linear Verrucous Epidermal Nevus | Nevus, Sebaceous of Jadassohn"
BMGC_DS14145,BMG_DS054182,Microdeletion 15q11.2 | chromosome 15q11.2 deletion syndrome
BMGC_DS14146,BMG_DS054183,"Endocarditis, Non-Infective | Non-Infective Endocarditis | nonbacterial thrombotic endocarditis"
BMGC_DS14147,BMG_DS054185,Hyperheparinaemia | Hyperheparinemia | Hyperheparinemia (disorder) | hyperheparinemia
BMGC_DS14148,BMG_DS054186,Deficiency of factor II &/or prothrombin | Deficiency of factor II &/or prothrombin (disorder) | Deficiency of factor II or prothrombin | Factor II deficiency | Factor II deficiency (disorder) | Hypoprothrombinaemia | Hypoprothrombinemia | Prothrombin deficiency
BMGC_DS14149,BMG_DS054189,Axial Spondyloarthritis
BMGC_DS14150,BMG_DS054192,Chest Pain | Precordial Catch Syndrome
BMGC_DS14151,BMG_DS054194,Non-alcoholic Fatty Liver Disease | Nonalcoholic Steatohepatitis | metabolic dysfunction-associated steatohepatitis | metabolic dysfunction-associated steatotic liver disease
BMGC_DS14152,BMG_DS054201,Miliaria crystallina | Miliaria crystallina (disorder) | Other specified forms of miliaria | Sudamina | Sweat rash | miliaria crystallina
BMGC_DS14153,BMG_DS054205,Familial renal glucosuria | Familial renal glucosuria (disorder) | Renal glucosuria | Renal glucosuria (disorder) | familial renal glucosuria
BMGC_DS14154,BMG_DS054214,MYOTONIC DYSTROPHY 1 | myotonic dystrophy type 1
BMGC_DS14155,BMG_DS054515,Autoimmune hepatitis | Lupoid hepatitis NEC
BMGC_DS14156,BMG_DS054557,Astigmatism | Mixed Astigmatism
BMGC_DS14157,BMG_DS054558,Astigmatism | Oblique Astigmatism
BMGC_DS14158,BMG_DS054568,orofacial cleft
BMGC_DS14159,BMG_DS054592,Multiple Chronic Conditions
BMGC_DS14160,BMG_DS054609,2-methyl-3-hydroxybutyric aciduria | 2-methyl-3-hydroxybutyric aciduria (disorder) | HSD10 disease | HSD10 mitochondrial disease
BMGC_DS14161,BMG_DS054616,"Atypical Mycobacteriosis, Familial | Mycobacterium Infections, Nontuberculous | inherited susceptibility to mycobacterial diseases"
BMGC_DS14162,BMG_DS054618,Waardenburg Syndrome | Waardenburg syndrome
BMGC_DS14163,BMG_DS054641,colon serrated polyposis
BMGC_DS14164,BMG_DS054643,gastrointestinal hamartoma
BMGC_DS14165,BMG_DS054649,familial adenomatous polyposis 2
BMGC_DS14166,BMG_DS054656,appendiceal L-cell glucagon-like peptide producing tumor | appendix L-cell glucagon-like peptide-producing neuroendocrine tumor
BMGC_DS14167,BMG_DS054657,colonic L-cell glucagon-like peptide producing tumor
BMGC_DS14168,BMG_DS054658,L-cell glucagon-like peptide producing tumor | L-cell glucagon-like peptide-producing neuroendocrine tumor
BMGC_DS14169,BMG_DS054659,small intestinal L-cell glucagon-like peptide producing tumor
BMGC_DS14170,BMG_DS054663,"MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS"
BMGC_DS14171,BMG_DS054664,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE | syndromic X-linked intellectual disability Raymond type"
BMGC_DS14172,BMG_DS054665,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96 | intellectual disability, X-linked 96 | non-syndromic X-linked intellectual disability 96"
BMGC_DS14173,BMG_DS054666,"autism, susceptibility to, X-linked 5"
BMGC_DS14174,BMG_DS054667,"intellectual disability, X-linked 90"
BMGC_DS14175,BMG_DS054668,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 88 | intellectual disability, X-linked 88 | non-syndromic X-linked intellectual disability 88"
BMGC_DS14176,BMG_DS054669,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (disorder)"
BMGC_DS14177,BMG_DS054670,"renal cell carcinoma, Xp11-associated"
BMGC_DS14178,BMG_DS054671,"Ogden syndrome | Ogden syndrome (disorder) | Premature ageing appearance, developmental delay, cardiac arrhythmia syndrome | Premature aging appearance, developmental delay, cardiac arrhythmia syndrome"
BMGC_DS14179,BMG_DS054673,AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | amyotrophic lateral sclerosis type 15
BMGC_DS14180,BMG_DS054674,syndromic X-linked intellectual disability 17
BMGC_DS14181,BMG_DS054675,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE | syndromic X-linked intellectual disability Nascimento type"
BMGC_DS14182,BMG_DS054676,syndromic X-linked intellectual disability Chudley-Schwartz type
BMGC_DS14183,BMG_DS054677,"CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia"
BMGC_DS14184,BMG_DS054678,"X-linked cerebral, cerebellar, coloboma syndrome | X-linked cerebral, cerebellar, coloboma syndrome (disorder) | X-linked cerebral-cerebellar-coloboma syndrome syndrome | X-linked intellectual disability Kroes type"
BMGC_DS14185,BMG_DS054679,KABUKI SYNDROME 2 | Kabuki syndrome 2
BMGC_DS14186,BMG_DS054680,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 | multiple congenital anomalies-hypotonia-seizures syndrome 2
BMGC_DS14187,BMG_DS054681,CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME | Xq27.3q28 duplication syndrome
BMGC_DS14188,BMG_DS054682,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6 | nonsyndromic congenital nail disorder 6"
BMGC_DS14189,BMG_DS054683,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16"
BMGC_DS14190,BMG_DS054684,"omphalocele, X-linked"
BMGC_DS14191,BMG_DS054686,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 | mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 | mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1"
BMGC_DS14192,BMG_DS054688,"renal dysplasia, cystic, susceptibility to"
BMGC_DS14193,BMG_DS054690,"LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME | lung agenesis-heart defect-thumb anomalies syndrome"
BMGC_DS14194,BMG_DS054691,"leukemia, acute myeloid, susceptibility to"
BMGC_DS14195,BMG_DS054693,THROMBOCYTHEMIA 2 | thrombocythemia 2
BMGC_DS14196,BMG_DS054695,ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS | atrial septal defect 7
BMGC_DS14197,BMG_DS054696,"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 | arterial calcification, generalized, of infancy, 2"
BMGC_DS14198,BMG_DS054697,ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | Acrodysostosis 1 with or without hormone resistance
BMGC_DS14199,BMG_DS054698,"LONG QT SYNDROME 2/3, DIGENIC"
BMGC_DS14200,BMG_DS054699,"LONG QT SYNDROME 3/6, DIGENIC"
BMGC_DS14201,BMG_DS054700,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | mitochondrial complex V (ATP synthase) deficiency nuclear type 1 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 1"
BMGC_DS14202,BMG_DS054702,MMDS1 - multiple mitochondrial dysfunctions syndrome type 1 | Multiple mitochondrial dysfunctions syndrome type 1 | Multiple mitochondrial dysfunctions syndrome type 1 (disorder) | NFU1 (NFU1 iron-sulfur cluster scaffold) deficiency | multiple mitochondrial dysfunctions syndrome 1
BMGC_DS14203,BMG_DS054703,"CUTIS LAXA, AUTOSOMAL DOMINANT 1 | cutis laxa, autosomal dominant 1"
BMGC_DS14204,BMG_DS054704,"OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | dominant optic atrophy plus syndrome | optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy"
BMGC_DS14205,BMG_DS054707,"Small Fiber Neuropathy | neuropathy, small fiber"
BMGC_DS14206,BMG_DS054713,KOILONYCHIA WITH LEUKONYCHIA | nonsyndromic congenital nail disorder 2
BMGC_DS14207,BMG_DS054714,"BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT | Bernard-Soulier syndrome type A2 | Bernard-Soulier syndrome, type A2, autosomal dominant"
BMGC_DS14208,BMG_DS054715,CHROMOSOME 2q23.1 DELETION SYNDROME | autosomal dominant intellectual developmental disorder 1
BMGC_DS14209,BMG_DS054717,"OMPHALOCELE, AUTOSOMAL | omphalocele, autosomal"
BMGC_DS14210,BMG_DS054719,THROMBOCYTHEMIA 1 | thrombocythemia 1
BMGC_DS14211,BMG_DS054721,"LONG QT SYNDROME 1/2, DIGENIC"
BMGC_DS14212,BMG_DS054722,vitiligo-associated multiple autoimmune disease susceptibility 6
BMGC_DS14213,BMG_DS054723,JOUBERT SYNDROME 12
BMGC_DS14214,BMG_DS054724,"17,20-Lyase Deficiency, Isolated | 17,20-lyase deficiency, isolated"
BMGC_DS14215,BMG_DS054725,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4"
BMGC_DS14216,BMG_DS054727,FIBROCHONDROGENESIS 1 | fibrochondrogenesis 1
BMGC_DS14217,BMG_DS054728,"GALACTOSEMIA, DUARTE VARIANT"
BMGC_DS14218,BMG_DS054729,GELEOPHYSIC DYSPLASIA 1 | geleophysic dysplasia 1
BMGC_DS14219,BMG_DS054730,"BERNARD-SOULIER SYNDROME, TYPE A1"
BMGC_DS14220,BMG_DS054731,"GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET"
BMGC_DS14221,BMG_DS054732,"GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET"
BMGC_DS14222,BMG_DS054733,GLUTARIC ACIDEMIA IIA | glutaric acidemia IIa
BMGC_DS14223,BMG_DS054734,GLUTARIC ACIDEMIA IIB | glutaric acidemia IIb
BMGC_DS14224,BMG_DS054735,GLUTARIC ACIDEMIA IIC | glutaric acidemia IIc
BMGC_DS14225,BMG_DS054738,"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT | autosomal dominant thrombophilia due to protein S deficiency | thrombophilia due to protein S deficiency, autosomal dominant"
BMGC_DS14226,BMG_DS054742,"ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL | allergic bronchopulmonary aspergillosis"
BMGC_DS14227,BMG_DS054745,HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY | hypoinsulinemic hypoglycemia and body hemihypertrophy | hypoinsulinemic hypoglycemia with hemihypertrophy
BMGC_DS14228,BMG_DS054746,"Larsen-like syndrome B3GAT3 type | Larsen-like syndrome, B3GAT3 type | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS"
BMGC_DS14229,BMG_DS054747,"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 | microcephaly and chorioretinopathy 1"
BMGC_DS14230,BMG_DS054749,OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA | orotic aciduria | orotic aciduria without megaloblastic anemia
BMGC_DS14231,BMG_DS054750,"LIVER FAILURE, INFANTILE, TRANSIENT | acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | transient infantile liver failure"
BMGC_DS14232,BMG_DS054756,"LONG QT SYNDROME 2/5, DIGENIC"
BMGC_DS14233,BMG_DS054757,JOUBERT SYNDROME 11 | Joubert syndrome 11 | nephronophthisis 12
BMGC_DS14234,BMG_DS054763,HYPOTRICHOSIS 8 | hypotrichosis 8
BMGC_DS14235,BMG_DS054764,Cryptozoospermia | Oligospermia
BMGC_DS14236,BMG_DS054766,"HEMOGLOBIN H DISEASE, NONDELETIONAL"
BMGC_DS14237,BMG_DS054767,"Osteogenesis Imperfecta, Type VI | osteogenesis imperfecta type 6"
BMGC_DS14238,BMG_DS054768,"bleeding disorder, platelet-type, 13, susceptibility to"
BMGC_DS14239,BMG_DS054770,Glyoxalase II Deficiency | hydroxyacyl glutathione hydrolase deficiency
BMGC_DS14240,BMG_DS054771,"DEAFNESS, AUTOSOMAL RECESSIVE 29 | autosomal recessive nonsyndromic hearing loss 29"
BMGC_DS14241,BMG_DS054773,Leukotriene C4 Synthase Deficiency | hypotonia-failure to thrive-microcephaly syndrome
BMGC_DS14242,BMG_DS054774,Emberger Syndrome | GATA2 Deficiency | deafness-lymphedema-leukemia syndrome | immunodeficiency 21
BMGC_DS14243,BMG_DS054775,Perisylvian polymicrogyria
BMGC_DS14244,BMG_DS054776,MOYAMOYA DISEASE 5 | Moyamoya disease 5
BMGC_DS14245,BMG_DS054777,"ATRIAL FIBRILLATION, FAMILIAL, 11 | atrial fibrillation, familial, 11"
BMGC_DS14246,BMG_DS054778,"ATRIAL FIBRILLATION, FAMILIAL, 12 | atrial fibrillation, familial, 12"
BMGC_DS14247,BMG_DS054779,"Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency | mitochondrial complex V (ATP synthase) deficiency nuclear type 2"
BMGC_DS14248,BMG_DS054780,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 | mitochondrial complex V (ATP synthase) deficiency nuclear type 3"
BMGC_DS14249,BMG_DS054781,N-ACETYLASPARTATE DEFICIENCY | N-acetylaspartate deficiency
BMGC_DS14250,BMG_DS054782,"MYOPATHY, DISTAL, 4 | distal myopathy 4 | distal myopathy with posterior leg and anterior hand involvement"
BMGC_DS14251,BMG_DS054783,"SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 47"
BMGC_DS14252,BMG_DS054784,"SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 52"
BMGC_DS14253,BMG_DS054785,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 | immunodeficiency-centromeric instability-facial anomalies syndrome 2
BMGC_DS14254,BMG_DS054786,"psoriasis 13, susceptibility to"
BMGC_DS14255,BMG_DS054787,HERMANSKY-PUDLAK SYNDROME 7 | Hermansky-Pudlak syndrome 7
BMGC_DS14256,BMG_DS054788,"Chondrodysplasia with joint dislocations gPAPP type | Chondrodysplasia with joint dislocations gPAPP type (disorder) | chondrodysplasia with joint dislocations, gPAPP type"
BMGC_DS14257,BMG_DS054790,"aspergillosis, susceptibility to"
BMGC_DS14258,BMG_DS054791,multiple congenital anomalies-hypotonia-seizures syndrome 1
BMGC_DS14259,BMG_DS054792,ANHAPTOGLOBINEMIA | anhaptoglobinemia
BMGC_DS14260,BMG_DS054793,HYPOHAPTOGLOBINEMIA
BMGC_DS14261,BMG_DS054794,Atrial Septal Defect 3 | atrial septal defect 3
BMGC_DS14262,BMG_DS054795,"sick sinus syndrome 3, susceptibility to"
BMGC_DS14263,BMG_DS054796,SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 7 with or without polydactyly
BMGC_DS14264,BMG_DS054797,"Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome | Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome | Keppen Lubinsky syndrome | Keppen Lubinsky syndrome (disorder) | Keppen-Lubinsky syndrome"
BMGC_DS14265,BMG_DS054798,CRANIOECTODERMAL DYSPLASIA 3 | cranioectodermal dysplasia 3
BMGC_DS14266,BMG_DS054799,Kappa-Chain Deficiency | recurrent infections associated with rare immunoglobulin isotypes deficiency
BMGC_DS14267,BMG_DS054800,Methylmalonate Semialdehyde Dehydrogenase Deficiency | methylmalonate semialdehyde dehydrogenase deficiency
BMGC_DS14268,BMG_DS054801,Pyruvate Dehydrogenase E1-Beta Deficiency | pyruvate dehydrogenase E1-beta deficiency
BMGC_DS14269,BMG_DS054802,"intellectual disability, autosomal dominant 2"
BMGC_DS14270,BMG_DS054803,mosaic variegated aneuploidy syndrome 2
BMGC_DS14271,BMG_DS054804,"CORTICAL MALFORMATIONS, OCCIPITAL | occipital pachygyria and polymicrogyria"
BMGC_DS14272,BMG_DS054806,Hereditary Sensory and Autonomic Neuropathy Type Ie | hereditary sensory neuropathy-deafness-dementia syndrome
BMGC_DS14273,BMG_DS054807,hydrolethalus syndrome 2
BMGC_DS14274,BMG_DS054808,CHITOTRIOSIDASE DEFICIENCY
BMGC_DS14275,BMG_DS054809,Lactate Dehydrogenase B Deficiency | glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
BMGC_DS14276,BMG_DS054810,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 | focal segmental glomerulosclerosis 6
BMGC_DS14277,BMG_DS054811,"STICKLER SYNDROME, TYPE IV | Stickler syndrome, type 4"
BMGC_DS14278,BMG_DS054812,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | nonsyndromic congenital nail disorder 9"
BMGC_DS14279,BMG_DS054813,"DEAFNESS, AUTOSOMAL DOMINANT 64 | autosomal dominant nonsyndromic hearing loss 64"
BMGC_DS14280,BMG_DS054814,Hyperbiliverdinaemia | Hyperbiliverdinemia | Hyperbiliverdinemia (disorder) | hyperbiliverdinemia
BMGC_DS14281,BMG_DS054815,"CANDIDIASIS, FAMILIAL, 7 | autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | immunodeficiency 31C"
BMGC_DS14282,BMG_DS054816,"delayed sleep phase syndrome, susceptibility to"
BMGC_DS14283,BMG_DS054817,PARAGANGLIOMAS 5 | paragangliomas 5
BMGC_DS14284,BMG_DS054819,"MYOPIA 21, AUTOSOMAL DOMINANT | myopia 21, autosomal dominant"
BMGC_DS14285,BMG_DS054820,BRITTLE CORNEA SYNDROME 2 | brittle cornea syndrome 2
BMGC_DS14286,BMG_DS054821,Developmental Dysplasia of the Hip | developmental dysplasia of the hip
BMGC_DS14287,BMG_DS054822,HERMANSKY-PUDLAK SYNDROME 9 | Hermansky-Pudlak syndrome 9
BMGC_DS14288,BMG_DS054823,GATA2 Deficiency | immunodeficiency 21 | monocytopenia with susceptibility to infections
BMGC_DS14289,BMG_DS054824,JOUBERT SYNDROME 13 | Joubert syndrome 13
BMGC_DS14290,BMG_DS054825,"MECKEL SYNDROME, TYPE 10 | Meckel syndrome, type 10"
BMGC_DS14291,BMG_DS054826,RETINITIS PIGMENTOSA 61 | retinitis pigmentosa 61
BMGC_DS14292,BMG_DS054827,RETINITIS PIGMENTOSA 62 | retinitis pigmentosa 62
BMGC_DS14293,BMG_DS054828,GELEOPHYSIC DYSPLASIA 2 | geleophysic dysplasia 2
BMGC_DS14294,BMG_DS054829,LEBER CONGENITAL AMAUROSIS 16 | Leber congenital amaurosis 16
BMGC_DS14295,BMG_DS054830,CRANIOSYNOSTOSIS AND DENTAL ANOMALIES | craniosynostosis and dental anomalies
BMGC_DS14296,BMG_DS054831,"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 | pigmented nodular adrenocortical disease, primary, 3 | primary pigmented nodular adrenocortical disease 3"
BMGC_DS14297,BMG_DS054832,CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME | craniofacial anomalies and anterior segment dysgenesis syndrome
BMGC_DS14298,BMG_DS054833,"NEPHROTIC SYNDROME, TYPE 6 | nephrotic syndrome type 6 | nephrotic syndrome, type 6"
BMGC_DS14299,BMG_DS054834,"MYASTHENIC SYNDROME, CONGENITAL, 16 | congenital myasthenic syndrome 16"
BMGC_DS14300,BMG_DS054835,"LAMB2-related infantile-onset nephrotic syndrome | NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES | nephrotic syndrome type 5"
BMGC_DS14301,BMG_DS054836,Glycoprotein IA Deficiency | platelet-type bleeding disorder 9
BMGC_DS14302,BMG_DS054837,Bleeding disorder due to glycoprotein VI deficiency | Bleeding disorder due to glycoprotein VI deficiency (disorder) | Bleeding disorder platelet-type 11 | Glycoprotein VI deficiency | platelet-type bleeding disorder 11
BMGC_DS14303,BMG_DS054838,RAFIQ SYNDROME | Rafiq syndrome
BMGC_DS14304,BMG_DS054839,PARKINSON DISEASE 17 | Parkinson disease 17 | Parkinson's disease 17
BMGC_DS14305,BMG_DS054840,3-M syndrome | 3M syndrome 3 | THREE M SYNDROME 3
BMGC_DS14306,BMG_DS054841,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 | hyperphosphatasia with impaired intellectual development syndrome 3 | hyperphosphatasia with intellectual disability syndrome 3
BMGC_DS14307,BMG_DS054842,"intellectual disability, autosomal recessive 16"
BMGC_DS14308,BMG_DS054843,"MECKEL SYNDROME, TYPE 9 | Meckel syndrome, type 9"
BMGC_DS14309,BMG_DS054845,"encephalopathy, acute, infection-induced, susceptibility to, 4"
BMGC_DS14310,BMG_DS054846,"NEUROPATHY, HEREDITARY SENSORY, TYPE IIC | hereditary sensory neuropathy type 2C | neuropathy, hereditary sensory, type 2C"
BMGC_DS14311,BMG_DS054847,ADAMS-OLIVER SYNDROME 2 | Adams-Oliver syndrome 2
BMGC_DS14312,BMG_DS054848,"BILIARY CIRRHOSIS, PRIMARY, 4 | primary biliary cholangitis 4"
BMGC_DS14313,BMG_DS054849,"BILIARY CIRRHOSIS, PRIMARY, 5 | primary biliary cholangitis 5"
BMGC_DS14314,BMG_DS054850,WARBURG MICRO SYNDROME 3 | Warburg micro syndrome 3
BMGC_DS14315,BMG_DS054852,RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS | familial retinal arterial macroaneurysm
BMGC_DS14316,BMG_DS054854,WARBURG MICRO SYNDROME 2 | Warburg micro syndrome 2
BMGC_DS14317,BMG_DS054855,HOLOPROSENCEPHALY 11 | holoprosencephaly 11
BMGC_DS14318,BMG_DS054856,"HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 | hyperuricemic nephropathy, familial juvenile type 3"
BMGC_DS14319,BMG_DS054857,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O | Charcot-Marie-Tooth disease axonal type 2O"
BMGC_DS14320,BMG_DS054858,CHROMOSOME 8q21.11 DELETION SYNDROME | chromosome 8q21.11 deletion syndrome
BMGC_DS14321,BMG_DS054859,"MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 1 | microcephaly, epilepsy, and diabetes syndrome"
BMGC_DS14322,BMG_DS054860,HYPOTRICHOSIS 9 | hypotrichosis 9
BMGC_DS14323,BMG_DS054861,HYPOTRICHOSIS 10 | hypotrichosis 10
BMGC_DS14324,BMG_DS054862,"intellectual disability, autosomal recessive 18"
BMGC_DS14325,BMG_DS054863,NARCOLEPSY 7 | narcolepsy 7
BMGC_DS14326,BMG_DS054864,"Parkinson disease 18, autosomal dominant, susceptibility to"
BMGC_DS14327,BMG_DS054865,"ANEURYSM, INTRACRANIAL BERRY, 11 | aneurysm, intracranial berry, 11 | intracranial berry aneurysm 11"
BMGC_DS14328,BMG_DS054866,"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT | autosomal dominant intellectual developmental disorder 8 | intellectual disability, autosomal dominant 8"
BMGC_DS14329,BMG_DS054867,NESCAV syndrome
BMGC_DS14330,BMG_DS054868,"intellectual disability, autosomal dominant 10"
BMGC_DS14331,BMG_DS054869,"CHROMOSOME 20q11-q12 DELETION SYNDROME | autosomal dominant intellectual developmental disorder 11 | intellectual disability, autosomal dominant 11"
BMGC_DS14332,BMG_DS054870,Microcephaly-capillary malformation syndrome | Microcephaly-capillary malformation syndrome (disorder) | microcephaly-capillary malformation syndrome
BMGC_DS14333,BMG_DS054871,"ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY | arthrogryposis, Perthes disease, and upward gaze palsy"
BMGC_DS14334,BMG_DS054872,Combined Malonic and Methylmalonic Aciduria | combined malonic and methylmalonic acidemia
BMGC_DS14335,BMG_DS054873,Platelet-Activating Factor Acetylhydrolase Deficiency | platelet-activating factor acetylhydrolase deficiency
BMGC_DS14336,BMG_DS054874,"epilepsy, juvenile myoclonic, susceptibility to, 9"
BMGC_DS14337,BMG_DS054875,"STICKLER SYNDROME, TYPE V | Stickler syndrome, type 5"
BMGC_DS14338,BMG_DS054876,"breast-ovarian cancer, familial, susceptibility to, 4"
BMGC_DS14339,BMG_DS054877,"MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION | myopia, high, with cataract and vitreoretinal degeneration"
BMGC_DS14340,BMG_DS054878,"HYDATIDIFORM MOLE, RECURRENT, 2 | hydatidiform mole, recurrent, 2"
BMGC_DS14341,BMG_DS054879,CHROMOSOME 15q25 DELETION SYNDROME | chromosome 15q25 deletion syndrome
BMGC_DS14342,BMG_DS054880,"Wolfram-Like Syndrome, Autosomal Dominant | Wolfram-like syndrome"
BMGC_DS14343,BMG_DS054881,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 | neurodegeneration with brain iron accumulation 4
BMGC_DS14344,BMG_DS054882,BOLA3 (bolA family member 3) deficiency | MMDS2 - multiple mitochondrial dysfunctions syndrome type 2 | Multiple mitochondrial dysfunctions syndrome type 2 | Multiple mitochondrial dysfunctions syndrome type 2 (disorder) | multiple mitochondrial dysfunctions syndrome 2
BMGC_DS14345,BMG_DS054883,"Autosomal dominant keratoconus with early-onset anterior polar cataract | EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome | EDICT syndrome | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Familial keratoconus with cataract"
BMGC_DS14346,BMG_DS054885,SCLEROSTEOSIS 2 | sclerosteosis 2
BMGC_DS14347,BMG_DS054886,COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA | cognitive impairment with or without cerebellar ataxia
BMGC_DS14348,BMG_DS054887,Alpha-Methylacyl-CoA Racemase Deficiency | alpha-methylacyl-CoA racemase deficiency
BMGC_DS14349,BMG_DS054891,"pancreatic cancer, susceptibility to, 4"
BMGC_DS14350,BMG_DS054892,"MYOPATHY, DISTAL, TATEYAMA TYPE | distal myopathy Tateyama type | distal myopathy, Tateyama type"
BMGC_DS14351,BMG_DS054893,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 | autosomal recessive spinocerebellar ataxia 12"
BMGC_DS14352,BMG_DS054894,OVARIAN DYSGENESIS 3 | ovarian dysgenesis 3
BMGC_DS14353,BMG_DS054895,PITT-HOPKINS-LIKE SYNDROME 2 | Pitt-Hopkins-like syndrome 2
BMGC_DS14354,BMG_DS054896,FEINGOLD SYNDROME 2 | Feingold syndrome type 2
BMGC_DS14355,BMG_DS054897,BAP1-related tumor predisposition syndrome | TUMOR PREDISPOSITION SYNDROME 1
BMGC_DS14356,BMG_DS054898,"INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 | inflammatory skin and bowel disease, neonatal, 1"
BMGC_DS14357,BMG_DS054899,"intellectual disability, autosomal recessive 31"
BMGC_DS14358,BMG_DS054900,SCHIZOPHRENIA 17 | schizophrenia 17
BMGC_DS14359,BMG_DS054901,"intellectual disability, autosomal recessive 29"
BMGC_DS14360,BMG_DS054902,"ARTHROGRYPOSIS, DISTAL, TYPE 1B | arthrogryposis, distal, type 1B | distal arthrogryposis type 1B"
BMGC_DS14361,BMG_DS054903,pancreatic triacylglycerol lipase deficiency
BMGC_DS14362,BMG_DS054904,"COLIPASE, CONGENITAL ABSENCE OF PANCREATIC"
BMGC_DS14363,BMG_DS054905,"LIPASE AND COLIPASE, DEFICIENCY OF"
BMGC_DS14364,BMG_DS054906,"LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC"
BMGC_DS14365,BMG_DS054907,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27 | autosomal recessive intellectual developmental disorder 27 | intellectual disability, autosomal recessive 27"
BMGC_DS14366,BMG_DS054908,"intellectual disability, autosomal recessive 33"
BMGC_DS14367,BMG_DS054909,"intellectual disability, autosomal recessive 30"
BMGC_DS14368,BMG_DS054910,"intellectual disability, autosomal recessive 19"
BMGC_DS14369,BMG_DS054911,"intellectual disability, autosomal recessive 23"
BMGC_DS14370,BMG_DS054912,"intellectual disability, autosomal recessive 24"
BMGC_DS14371,BMG_DS054913,"intellectual disability, autosomal recessive 25"
BMGC_DS14372,BMG_DS054914,"intellectual disability, autosomal recessive 28"
BMGC_DS14373,BMG_DS054915,"PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS | peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"
BMGC_DS14374,BMG_DS054916,"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 | surfactant metabolism dysfunction, pulmonary, 5"
BMGC_DS14375,BMG_DS054917,"dengue virus, susceptibility to"
BMGC_DS14376,BMG_DS054920,Mannose-Binding Protein Deficiency | mannose-binding lectin deficiency
BMGC_DS14377,BMG_DS054921,"AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE | amyotrophic lateral sclerosis type 16"
BMGC_DS14378,BMG_DS054923,SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY | asphyxiating thoracic dystrophy 5
BMGC_DS14379,BMG_DS054924,NEPHRONOPHTHISIS 13 | nephronophthisis 13
BMGC_DS14380,BMG_DS054925,CRANIOECTODERMAL DYSPLASIA 4 | cranioectodermal dysplasia 4
BMGC_DS14381,BMG_DS054929,complement component 4b deficiency
BMGC_DS14382,BMG_DS054930,complement component 4a deficiency
BMGC_DS14383,BMG_DS054931,"LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM | hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism"
BMGC_DS14384,BMG_DS054932,"bacteremia, susceptibility to, 1"
BMGC_DS14385,BMG_DS054933,"bacteremia, susceptibility"
BMGC_DS14386,BMG_DS054934,"bacteremia, susceptibility to, 2"
BMGC_DS14387,BMG_DS054935,"ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 | encephalopathy due to defective mitochondrial and peroxisomal fission 1 | encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"
BMGC_DS14388,BMG_DS054936,"pregnancy loss, recurrent, susceptibility to, 1"
BMGC_DS14389,BMG_DS054937,"pregnancy loss, recurrent, susceptibility to, 2"
BMGC_DS14390,BMG_DS054938,"pregnancy loss, recurrent, susceptibility to, 3"
BMGC_DS14391,BMG_DS054939,"graft-versus-host disease, susceptibility to"
BMGC_DS14392,BMG_DS054940,"EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | MEGF10-related myopathy"
BMGC_DS14393,BMG_DS054941,"glucocorticoid therapy, response to"
BMGC_DS14394,BMG_DS054942,"Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome | Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) | Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome | Zaki Gleeson syndrome | microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome"
BMGC_DS14395,BMG_DS054943,CHILBLAIN LUPUS 2 | chilblain lupus 2
BMGC_DS14396,BMG_DS054945,RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES | lethal occipital encephalocele-skeletal dysplasia syndrome
BMGC_DS14397,BMG_DS054946,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 | familial temporal lobe epilepsy 5"
BMGC_DS14398,BMG_DS054947,"FEBRILE SEIZURES, FAMILIAL, 11 | familial febrile seizures 11 | febrile seizures, familial, 11"
BMGC_DS14399,BMG_DS054948,SYSTEMIC LUPUS ERYTHEMATOSUS 16 | autosomal systemic lupus erythematosus type 16
BMGC_DS14400,BMG_DS054950,CATARACT 37 | cataract 37
BMGC_DS14401,BMG_DS054951,JOUBERT SYNDROME 14 | Joubert syndrome 14
BMGC_DS14402,BMG_DS054952,VENTRICULAR SEPTAL DEFECT 1 | ventricular septal defect 1
BMGC_DS14403,BMG_DS054954,ATRIOVENTRICULAR SEPTAL DEFECT 4 | atrioventricular septal defect 4
BMGC_DS14404,BMG_DS054956,ventricular septal defect 2
BMGC_DS14405,BMG_DS054957,VENTRICULAR SEPTAL DEFECT 3 | ventricular septal defect 3
BMGC_DS14406,BMG_DS054959,atrial septal defect 8
BMGC_DS14407,BMG_DS054961,"CUTIS LAXA, AUTOSOMAL DOMINANT 2 | cutis laxa, autosomal dominant 2"
BMGC_DS14408,BMG_DS054962,HYPOPLASTIC LEFT HEART SYNDROME 2 | hypoplastic left heart syndrome 2
BMGC_DS14409,BMG_DS054963,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P | Charcot-Marie-Tooth disease axonal type 2P"
BMGC_DS14410,BMG_DS054964,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | cutis laxa, autosomal recessive, type 1B"
BMGC_DS14411,BMG_DS054965,Autosomal recessive cutis laxa type IIIb | Disorder due to pyrroline-5-carboxylate reductase 1 deficiency | PYCR1-related de Barsy syndrome | Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome | Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome (disorder)
BMGC_DS14412,BMG_DS054966,"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 | hypertrophic osteoarthropathy, primary, autosomal recessive, 2"
BMGC_DS14413,BMG_DS054967,"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 | congenital nongoitrous hypothyroidism 6"
BMGC_DS14414,BMG_DS054968,"Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome | Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) | ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis | ELOVL4-related neuro ichthyosis | congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"
BMGC_DS14415,BMG_DS054969,THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) | childhood encephalopathy due to thiamine pyrophosphokinase deficiency
BMGC_DS14416,BMG_DS054970,"HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | lipoic acid synthetase deficiency"
BMGC_DS14417,BMG_DS054971,JOUBERT SYNDROME 15 | Joubert syndrome 15
BMGC_DS14418,BMG_DS054972,"JOUBERT SYNDROME 9/15, DIGENIC | Joubert syndrome 15"
BMGC_DS14419,BMG_DS054973,"JOUBERT SYNDROME 12/15, DIGENIC | Joubert syndrome 15"
BMGC_DS14420,BMG_DS054974,JOUBERT SYNDROME 16 | Joubert syndrome 16
BMGC_DS14421,BMG_DS054975,"coronary heart disease, susceptibility to, 6"
BMGC_DS14422,BMG_DS054976,FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | familial cold autoinflammatory syndrome 3
BMGC_DS14423,BMG_DS054977,ATRIOVENTRICULAR SEPTAL DEFECT 5 | atrioventricular septal defect 5
BMGC_DS14424,BMG_DS054978,ATRIAL SEPTAL DEFECT 9 | atrial septal defect 9
BMGC_DS14425,BMG_DS054979,"HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE | transient infantile hypertriglyceridemia and hepatosteatosis"
BMGC_DS14426,BMG_DS054980,BRAIN SMALL VESSEL DISEASE 2 | brain small vessel disease 2 | porencephaly 2
BMGC_DS14427,BMG_DS054981,trigonocephaly 2
BMGC_DS14428,BMG_DS054982,Thrombophilia due to Thrombomodulin Defect | thrombomodulin-related bleeding disorder | thrombophilia due to thrombomodulin defect
BMGC_DS14429,BMG_DS054983,"SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE | spastic ataxia 5"
BMGC_DS14430,BMG_DS054985,WISKOTT-ALDRICH SYNDROME 2 | Wiskott-Aldrich syndrome 2
BMGC_DS14431,BMG_DS054986,RETINITIS PIGMENTOSA 63 | retinitis pigmentosa 63
BMGC_DS14432,BMG_DS054987,"MICROPHTHALMIA/COLOBOMA 7 | microphthalmia, isolated, with coloboma 7"
BMGC_DS14433,BMG_DS054988,"Lethal neonatal rigidity, multifocal seizure syndrome | Lethal neonatal spasticity, epileptic encephalopathy syndrome | Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | neonatal-onset encephalopathy with rigidity and seizures"
BMGC_DS14434,BMG_DS054989,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY | autosomal recessive intellectual developmental disorder 34 | intellectual disability, autosomal recessive 34"
BMGC_DS14435,BMG_DS054990,CONE-ROD DYSTROPHY 16 | cone-rod dystrophy 16
BMGC_DS14436,BMG_DS054991,RETINITIS PIGMENTOSA 64 | cone-rod dystrophy 16 | retinitis pigmentosa 64
BMGC_DS14437,BMG_DS054992,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES | psychomotor retardation, epilepsy, and craniofacial dysmorphism"
BMGC_DS14438,BMG_DS054993,"USHER SYNDROME, TYPE IIIB | Usher syndrome type 3B"
BMGC_DS14439,BMG_DS054994,Carbohydrate deficient glycoprotein syndrome type Ir | Congenital disorder of glycosylation type 1r | Congenital disorder of glycosylation type 1r (disorder) | Congenital disorder of glycosylation type Ir | DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation | DDOST-congenital disorder of glycosylation | Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation
BMGC_DS14440,BMG_DS054995,MIRROR MOVEMENTS 2 | mirror movements 2
BMGC_DS14441,BMG_DS054996,"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE | autosomal recessive thrombophilia due to protein S deficiency | thrombophilia due to protein S deficiency, autosomal recessive"
BMGC_DS14442,BMG_DS054997,"hemorrhage, intracerebral, susceptibility to"
BMGC_DS14443,BMG_DS054998,"ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY | encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency"
BMGC_DS14444,BMG_DS055000,THROMBOCYTHEMIA 3 | thrombocythemia 3
BMGC_DS14445,BMG_DS055001,FIBROCHONDROGENESIS 2 | fibrochondrogenesis 2
BMGC_DS14446,BMG_DS055002,17q12 duplication syndrome | 17q12 microduplication syndrome | 17q12 microduplication syndrome (disorder) | Chromosome 17q12 duplication syndrome | Trisomy 17q12 | chromosome 17q12 duplication syndrome
BMGC_DS14447,BMG_DS055003,CHROMOSOME 17q12 DELETION SYNDROME | chromosome 17q12 deletion syndrome
BMGC_DS14448,BMG_DS055004,CHROMOSOME 16q22 DELETION SYNDROME | chromosome 16q22 deletion syndrome
BMGC_DS14449,BMG_DS055005,"efavirenz central nervous system toxicity, susceptibility to"
BMGC_DS14450,BMG_DS055006,"EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | Ehlers-Danlos syndrome kyphoscoliotic type 2 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2"
BMGC_DS14451,BMG_DS055008,"Early infantile epileptic encephalopathy 13 | SCN8A (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy | SCN8A encephalopathy | SCN8A-related epilepsy with encephalopathy | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) | developmental and epileptic encephalopathy, 13"
BMGC_DS14452,BMG_DS055009,Infantile cerebellar and retinal degeneration | Infantile cerebellar and retinal degeneration (disorder) | infantile cerebellar-retinal degeneration
BMGC_DS14453,BMG_DS055010,Leukoencephalopathy Brain Calcifications and Cysts | leukoencephalopathy with calcifications and cysts
BMGC_DS14454,BMG_DS055011,COFFIN-SIRIS SYNDROME 1 | Coffin-Siris syndrome 1
BMGC_DS14455,BMG_DS055012,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 | autosomal dominant intellectual developmental disorder 13 | intellectual disability, autosomal dominant 13"
BMGC_DS14456,BMG_DS055013,familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
BMGC_DS14457,BMG_DS055014,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E | congenital stationary night blindness 1E"
BMGC_DS14458,BMG_DS055016,"CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME | cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"
BMGC_DS14459,BMG_DS055017,BARAITSER-WINTER SYNDROME 2 | Baraitser-Winter syndrome 2 | Baraitser-winter syndrome 2
BMGC_DS14460,BMG_DS055018,DYSTONIA 21 | dystonia 21
BMGC_DS14461,BMG_DS055020,BENT BONE DYSPLASIA SYNDROME 1 | bent bone dysplasia syndrome 1
BMGC_DS14462,BMG_DS055027,PREECLAMPSIA/ECLAMPSIA 5 | preeclampsia/eclampsia 5
BMGC_DS14463,BMG_DS055028,TRICHOHEPATOENTERIC SYNDROME 2 | trichohepatoenteric syndrome 2
BMGC_DS14464,BMG_DS055029,"DEAFNESS, AUTOSOMAL DOMINANT 4B | autosomal dominant nonsyndromic hearing loss 4B"
BMGC_DS14465,BMG_DS055032,myelodysplastic syndrome
BMGC_DS14466,BMG_DS055033,"HYDATIDIFORM MOLE, RECURRENT, 1 | hydatidiform mole, recurrent, 1"
BMGC_DS14467,BMG_DS055035,Complement Factor I Deficiency | complement factor I deficiency
BMGC_DS14468,BMG_DS055036,corticosterone methyloxidase type 2 deficiency
BMGC_DS14469,BMG_DS055037,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | developmental and epileptic encephalopathy 1 | developmental and epileptic encephalopathy, 1"
BMGC_DS14470,BMG_DS055038,"FANCONI ANEMIA, COMPLEMENTATION GROUP C | Fanconi anemia complementation group C"
BMGC_DS14471,BMG_DS055040,JALS - juvenile amyotrophic lateral sclerosis | Juvenile amyotrophic lateral sclerosis | Juvenile amyotrophic lateral sclerosis (disorder) | juvenile amyotrophic lateral sclerosis
BMGC_DS14472,BMG_DS055044,familial atrial fibrillation
BMGC_DS14473,BMG_DS055059,"HEMOCHROMATOSIS, TYPE 1 | hemochromatosis type 1"
BMGC_DS14474,BMG_DS055061,Fanconi anemia complementation group A
BMGC_DS14475,BMG_DS055062,"FANCONI ANEMIA, COMPLEMENTATION GROUP F | Fanconi anemia complementation group F"
BMGC_DS14476,BMG_DS055063,Fanconi anemia complementation group G
BMGC_DS14477,BMG_DS055064,"FANCONI ANEMIA, COMPLEMENTATION GROUP L | Fanconi anemia complementation group L"
BMGC_DS14478,BMG_DS055065,"FANCONI ANEMIA, COMPLEMENTATION GROUP P | Fanconi anemia complementation group P"
BMGC_DS14479,BMG_DS055066,"PSEUDOHYPOALDOSTERONISM, TYPE IID | pseudohypoaldosteronism type 2D"
BMGC_DS14480,BMG_DS055067,"PSEUDOHYPOALDOSTERONISM, TYPE IIE | pseudohypoaldosteronism type 2E"
BMGC_DS14481,BMG_DS055071,Severe dehydration | Severe dehydration (disorder)
BMGC_DS14482,BMG_DS055080,myeloid neoplasm associated with PDGFRB rearrangement
BMGC_DS14483,BMG_DS055095,Asidan ataxia | Costa de Morte ataxia | Spinocerebellar ataxia 36 | Spinocerebellar ataxia type 36 | Spinocerebellar ataxia type 36 (disorder) | spinocerebellar ataxia type 36
BMGC_DS14484,BMG_DS055096,HERMANSKY-PUDLAK SYNDROME 4 | Hermansky-Pudlak syndrome 4
BMGC_DS14485,BMG_DS055097,hiatus hernia
BMGC_DS14486,BMG_DS055098,"Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial | Hyperlipoproteinemia Type V"
BMGC_DS14487,BMG_DS055099,"Hypogonadism | Hypogonadism, Isolated Hypogonadotropic"
BMGC_DS14488,BMG_DS055102,"Hyperkalemic Periodic Paralysis Type 2 | Paralysis, Hyperkalemic Periodic"
BMGC_DS14489,BMG_DS055103,"tooth agenesis, selective, 1"
BMGC_DS14490,BMG_DS055104,Cone-Rod Dystrophies | Cone-Rod Dystrophy 2 | cone-rod dystrophy 2
BMGC_DS14491,BMG_DS055106,"Stuttering | Stuttering, Familial Persistent 1 | stuttering | stuttering, familial persistent, 1"
BMGC_DS14492,BMG_DS055107,"Thrombocythemia, Essential | Thrombocytosis, Autosomal Dominant"
BMGC_DS14493,BMG_DS055108,Vision Disability | Vision Disorders
BMGC_DS14494,BMG_DS055109,Aicardi-Goutieres Syndrome 2 | Aicardi-Goutieres syndrome 2
BMGC_DS14495,BMG_DS055110,Pseudo-TORCH syndrome | pseudo-TORCH syndrome
BMGC_DS14496,BMG_DS055111,geleophysic dysplasia
BMGC_DS14497,BMG_DS055113,Familial intrahepatic cholestasis of pregnancy | intrahepatic cholestasis of pregnancy
BMGC_DS14498,BMG_DS055114,Familial mesangial sclerosis | Familial mesangial sclerosis (disorder)
BMGC_DS14499,BMG_DS055115,Oculomotor apraxia | Oculomotor apraxia (disorder) | Oculomotor dyspraxia
BMGC_DS14500,BMG_DS055116,"Anti-plasmin deficiency, congenital"
BMGC_DS14501,BMG_DS055118,"Pituitary Hormone Deficiency, Combined, 3 | non-acquired combined pituitary hormone deficiency with spine abnormalities"
BMGC_DS14502,BMG_DS055120,progressive familial intrahepatic cholestasis 2 | progressive familial intrahepatic cholestasis type 2
BMGC_DS14503,BMG_DS055123,"46,XY sex reversal 3"
BMGC_DS14504,BMG_DS055125,"Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant"
BMGC_DS14505,BMG_DS055126,"Thyroid Hormone Resistance, Generalized, Autosomal Recessive | thyroid hormone resistance, generalized, autosomal recessive"
BMGC_DS14506,BMG_DS055129,Lentiginosis Profusa | familial generalized lentiginosis
BMGC_DS14507,BMG_DS055130,"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | hypothyroidism due to TSH receptor mutations"
BMGC_DS14508,BMG_DS055131,Elephantiasis | Endemic Elephantiasis | podoconiosis
BMGC_DS14509,BMG_DS055132,Elephantiasis | Endemic Non-Filarial Elephantiasis | podoconiosis
BMGC_DS14510,BMG_DS055133,Bigfoot Disease | Elephantiasis | podoconiosis
BMGC_DS14511,BMG_DS055134,"Ovarian Hyperstimulation Syndrome | Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous"
BMGC_DS14512,BMG_DS055135,fused mandibular incisors
BMGC_DS14513,BMG_DS055136,paragangliomas 1
BMGC_DS14514,BMG_DS055137,Autosomal Hemophilia A | Hemophilia A
BMGC_DS14515,BMG_DS055138,Factor VIII Deficiency | Hemophilia A
BMGC_DS14516,BMG_DS055145,"Autoimmune polyendocrinopathy syndrome, type 1"
BMGC_DS14517,BMG_DS055146,"Pseudohypoparathyroidism | Pseudohypoparathyroidism, Type Ia | pseudohypoparathyroidism type 1A"
BMGC_DS14518,BMG_DS055147,"Hypergonadotropic Ovarian Failure, X-Linked | Primary Ovarian Insufficiency"
BMGC_DS14519,BMG_DS055228,benign paroxysmal torticollis of infancy
BMGC_DS14520,BMG_DS055239,MMPSI - malignant migrating partial seizures of infancy | Malignant migrating partial epilepsy of infancy | Malignant migrating partial seizures of infancy | Malignant migrating partial seizures of infancy (disorder) | malignant migrating partial seizures of infancy
BMGC_DS14521,BMG_DS055261,familial ossifying fibroma
BMGC_DS14522,BMG_DS055264,craniofacial microsomia 1
BMGC_DS14523,BMG_DS055265,Chromosome 18q syndrome | chromosome 18q deletion syndrome
BMGC_DS14524,BMG_DS055267,Fanconi Syndrome | Fanconi-Bickel Syndrome | Fanconi-Bickel syndrome | glycogen storage disease due to GLUT2 deficiency
BMGC_DS14525,BMG_DS055269,"Macular Degeneration, Age-Related, 2 | age related macular degeneration 2"
BMGC_DS14526,BMG_DS055272,Amish Brittle Hair Brain Syndrome | Trichothiodystrophy Syndromes | nonphotosensitive trichothiodystrophy 5 | photosensitive trichothiodystrophy
BMGC_DS14527,BMG_DS055273,Axenfeld syndrome | Axenfeld-Rieger syndrome | Axenfeld-Rieger syndrome (disorder)
BMGC_DS14528,BMG_DS055275,Acrorenal Syndrome | acrorenal syndrome
BMGC_DS14529,BMG_DS055276,"Cardiomyopathy, Familial Hypertrophic, 1 | hypertrophic cardiomyopathy 1"
BMGC_DS14530,BMG_DS055279,"heterotaxy, visceral, 5, autosomal"
BMGC_DS14531,BMG_DS055282,Dihydropyrimidine Dehydrogenase Deficiency | Dihydropyrimidinuria | dihydropyrimidine dehydrogenase deficiency
BMGC_DS14532,BMG_DS055284,Homocarnosinase deficiency | Homocarnosinase deficiency (disorder) | Homocarnosinosis | homocarnosinosis
BMGC_DS14533,BMG_DS055285,Aminoacyl-histidine dipeptidase deficiency | Aminoacyl-histidine dipeptidase deficiency (disorder) | Carnosinaemia | Carnosinase deficiency | Carnosinemia | Carnosinemia (disorder) | Carnosinuria | carnosinemia | homocarnosinosis
BMGC_DS14534,BMG_DS055287,JCA - Juvenile chronic arthritis | Juvenile arthritis | Juvenile chronic arthritis | Juvenile chronic arthritis (disorder) | juvenile idiopathic arthritis
BMGC_DS14535,BMG_DS055289,"Night Blindness, Congenital Stationary, Type 1A | congenital stationary night blindness 1A"
BMGC_DS14536,BMG_DS055290,Acrocephalopolydactylous Dysplasia | acrocephalopolydactyly
BMGC_DS14537,BMG_DS055291,Amelogenesis imperfecta co-occurrent with cone rod dystrophy | Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder) | Jalili syndrome
BMGC_DS14538,BMG_DS055293,"Charcot-Marie-Tooth Disease, Demyelinating, Type 1e | Charcot-Marie-Tooth disease type 1E"
BMGC_DS14539,BMG_DS055295,hereditary anorectal anomalies
BMGC_DS14540,BMG_DS055296,17q11.2 microduplication syndrome | NF1 Microduplication Syndrome
BMGC_DS14541,BMG_DS055298,Granulomatosis with polyangiitis | Granulomatosis with polyangiitis (disorder) | Necrotising respiratory granulomatosis | Necrotizing respiratory granulomatosis | granulomatosis with polyangiitis
BMGC_DS14542,BMG_DS055300,Nonepileptic Seizures | Seizures
BMGC_DS14543,BMG_DS055304,"Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia | hereditary spastic paraplegia 35"
BMGC_DS14544,BMG_DS055306,idiopathic nephrotic syndrome
BMGC_DS14545,BMG_DS055307,Middle aortic syndrome | Middle aortic syndrome (disorder) | atypical coarctation of aorta
BMGC_DS14546,BMG_DS055308,Parkinson Disease 13
BMGC_DS14547,BMG_DS055311,"Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome"
BMGC_DS14548,BMG_DS055312,"Deafness, Sensorineural, with Hypertrophic Cardiomyopathy"
BMGC_DS14549,BMG_DS055314,"Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive"
BMGC_DS14550,BMG_DS055316,Mental Retardation associated with Psoriasis | X-linked intellectual disability-seizures-psoriasis syndrome
BMGC_DS14551,BMG_DS055319,"Mental Retardation, X-Linked Nonsyndromic | non-syndromic X-linked intellectual disability"
BMGC_DS14552,BMG_DS055320,"Generalized Epilepsy With Febrile Seizures Plus, Type 5"
BMGC_DS14553,BMG_DS055321,"Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to"
BMGC_DS14554,BMG_DS055324,Bleeding Disorder due to Defective Thromboxane A2 Receptor
BMGC_DS14555,BMG_DS055326,T-Cell OKT4 Deficiency
BMGC_DS14556,BMG_DS055337,"Microcephaly, Primary Autosomal Recessive, 2"
BMGC_DS14557,BMG_DS055345,"Night blindness, congenital stationary, type 1"
BMGC_DS14558,BMG_DS055346,"Nephrosis, congenital | familial nephrotic syndrome"
BMGC_DS14559,BMG_DS055347,Mngie Without Leukoencephalopathy | mitochondrial DNA depletion syndrome 1 | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 8b
BMGC_DS14560,BMG_DS055352,"leukemia, acute, X-linked"
BMGC_DS14561,BMG_DS055355,"Muscular Dystrophy, Limb-Girdle, Type 1D"
BMGC_DS14562,BMG_DS055357,"Mitochondrial DNA Depletion Syndrome, Myopathic Form | mitochondrial DNA depletion syndrome 2"
BMGC_DS14563,BMG_DS055362,Cerebrocostomandibular-Like Syndrome
BMGC_DS14564,BMG_DS055371,"Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive"
BMGC_DS14565,BMG_DS055372,"Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant"
BMGC_DS14566,BMG_DS055373,"Leukodystrophy, Dysmyelinating, with Oligodontia | odontoleukodystrophy"
BMGC_DS14567,BMG_DS055378,"Woolly Hair, Autosomal Recessive"
BMGC_DS14568,BMG_DS055379,Multiple Mitochondrial Dysfunctions Syndrome | fatal multiple mitochondrial dysfunctions syndrome | multiple mitochondrial dysfunctions syndrome
BMGC_DS14569,BMG_DS055380,"Dyskeratosis Congenita, Autosomal Recessive"
BMGC_DS14570,BMG_DS055385,"Homocystinuria, Pyridoxine-Responsive"
BMGC_DS14571,BMG_DS055386,"Adrenal Insufficiency, Congenital"
BMGC_DS14572,BMG_DS055387,"Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal"
BMGC_DS14573,BMG_DS055394,Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities | microcephalic osteodysplastic primordial dwarfism type II
BMGC_DS14574,BMG_DS055400,"Deafness, Autosomal Recessive 36, Without Vestibular Involvement"
BMGC_DS14575,BMG_DS055406,Atresia of External Auditory Canal and Conduction Deafness | atresia of external auditory canal and conductive deafness
BMGC_DS14576,BMG_DS055419,"BRESEK syndrome | Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia"
BMGC_DS14577,BMG_DS055420,"Microcephaly with Chorioretinopathy, Autosomal Recessive"
BMGC_DS14578,BMG_DS055421,Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
BMGC_DS14579,BMG_DS055432,Generalized Epilepsy with Febrile Seizures Plus | generalized epilepsy with febrile seizures plus
BMGC_DS14580,BMG_DS055463,Ehlers-Danlos syndrome type 7A
BMGC_DS14581,BMG_DS055638,Mitochondrial cardiomyopathy | Mitochondrial cardiomyopathy (disorder)
BMGC_DS14582,BMG_DS055642,Fatal infantile mitochondrial cardiomyopathy | Fatal infantile mitochondrial cardiomyopathy (disorder)
BMGC_DS14583,BMG_DS055645,Fetal cardiomyopathy | Fetal cardiomyopathy (disorder) | Foetal cardiomyopathy
BMGC_DS14584,BMG_DS055736,renal dysplasia
BMGC_DS14585,BMG_DS055737,AA amyloidosis | AA amyloidosis (disorder) | Amyloid A amyloidosis | Amyloid A amyloidosis (disorder)
BMGC_DS14586,BMG_DS055738,AA amyloidosis | Secondary systemic amyloidosis | Secondary systemic amyloidosis (disorder) | serum amyloid A amyloidosis
BMGC_DS14587,BMG_DS055741,"Ichthyosis Congenita II | Ichthyosis, Lamellar"
BMGC_DS14588,BMG_DS055746,"Familial Hypophosphatemic Rickets | vitamin D-dependent rickets, type 2"
BMGC_DS14589,BMG_DS055747,"Familial Hypophosphatemic Rickets | Vitamin D-Resistant Rickets, X-Linked"
BMGC_DS14590,BMG_DS055748,inferolateral myocardial infarct
BMGC_DS14591,BMG_DS055749,Meniere Disease | Ménière's Vertigo
BMGC_DS14592,BMG_DS055752,"Cystinosis, Infantile Nephropathic | nephropathic infantile cystinosis"
BMGC_DS14593,BMG_DS055753,"Kaposi sarcoma, susceptibility to"
BMGC_DS14594,BMG_DS055754,"DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT | autosomal recessive nonsyndromic hearing loss 4"
BMGC_DS14595,BMG_DS055755,"MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA | microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma"
BMGC_DS14596,BMG_DS055756,DYSTONIA 23 | dystonia 23
BMGC_DS14597,BMG_DS055757,Familial dysautonomia with contractures | HSAN6 - hereditary sensory and autonomic neuropathy type 6 | Hereditary sensory and autonomic neuropathy type 6 | Hereditary sensory and autonomic neuropathy type 6 (disorder) | Hereditary sensory and autonomic neuropathy type VI | hereditary sensory and autonomic neuropathy type 6
BMGC_DS14598,BMG_DS055758,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F | peroxisome biogenesis disorder 5A"
BMGC_DS14599,BMG_DS055759,AICARDI-GOUTIERES SYNDROME 6 | Aicardi-Goutieres syndrome 6
BMGC_DS14600,BMG_DS055760,NEPHRONOPHTHISIS 14 | nephronophthisis 14
BMGC_DS14601,BMG_DS055761,"prostate cancer, hereditary, 2"
BMGC_DS14602,BMG_DS055762,"CEROID LIPOFUSCINOSIS, NEURONAL, 11 | neuronal ceroid lipofuscinosis 11"
BMGC_DS14603,BMG_DS055763,"USHER SYNDROME, TYPE IK | Usher syndrome type 1K"
BMGC_DS14604,BMG_DS055764,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A | peroxisome biogenesis disorder 7A"
BMGC_DS14605,BMG_DS055765,"TREMOR, HEREDITARY ESSENTIAL, 4 | essential tremor 4 | tremor, hereditary essential, 4"
BMGC_DS14606,BMG_DS055766,"SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 53"
BMGC_DS14607,BMG_DS055767,"SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 54"
BMGC_DS14608,BMG_DS055768,"SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 55"
BMGC_DS14609,BMG_DS055769,"SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 56"
BMGC_DS14610,BMG_DS055770,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | autosomal recessive congenital ichthyosis 3"
BMGC_DS14611,BMG_DS055771,"MYOCLONUS, FAMILIAL CORTICAL | myoclonus, familial, 1"
BMGC_DS14612,BMG_DS055772,"ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | ectodermal dysplasia 11B | ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive"
BMGC_DS14613,BMG_DS055773,HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 14 with or without anosmia
BMGC_DS14614,BMG_DS055774,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F | Charcot-Marie-Tooth disease type 4F"
BMGC_DS14615,BMG_DS055775,Congenital Amaurosis of Retinal Origin | Leber Congenital Amaurosis
BMGC_DS14616,BMG_DS055776,"CILIARY DYSKINESIA, PRIMARY, 20 | primary ciliary dyskinesia 20"
BMGC_DS14617,BMG_DS055777,"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8 | microphthalmia, isolated, with coloboma 8"
BMGC_DS14618,BMG_DS055778,"CATARACT 4, MULTIPLE TYPES | cataract 4 multiple types"
BMGC_DS14619,BMG_DS055779,"Familial Hypophosphatemic Rickets | Rickets, X-Linked Hypophosphatemic | X-linked dominant hypophosphatemic rickets | X-linked hypophosphatemic rickets"
BMGC_DS14620,BMG_DS055780,"SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | short stature-optic atrophy-Pelger-HuC+t anomaly syndrome"
BMGC_DS14621,BMG_DS055781,PONTINE TEGMENTAL CAP DYSPLASIA | pontine tegmental cap dysplasia
BMGC_DS14622,BMG_DS055783,"spondyloepiphyseal dysplasia tarda, X-linked"
BMGC_DS14623,BMG_DS055786,HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 13 with or without anosmia
BMGC_DS14624,BMG_DS055787,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 | mitochondrial complex III deficiency nuclear type 1"
BMGC_DS14625,BMG_DS055788,"ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE | autosomal recessive isolated ectopia lentis 2 | ectopia lentis 2, isolated, autosomal recessive"
BMGC_DS14626,BMG_DS055789,"MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT | congenital myopathy 10B | congenital myopathy 10b, mild variant"
BMGC_DS14627,BMG_DS055790,"ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT | ectodermal dysplasia 11A | ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant"
BMGC_DS14628,BMG_DS055791,"ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | ectopia lentis 1, isolated, autosomal dominant"
BMGC_DS14629,BMG_DS055792,NEPHRONOPHTHISIS 15 | nephronophthisis 15
BMGC_DS14630,BMG_DS055793,Drug Hypersensitivity Syndrome | drug rash with eosinophilia and systemic symptoms
BMGC_DS14631,BMG_DS055794,"Duchenne and Becker Muscular Dystrophy | Muscular Dystrophy, Duchenne"
BMGC_DS14632,BMG_DS055795,"SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome | SOFT syndrome | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"
BMGC_DS14633,BMG_DS055796,AORTIC VALVE DISEASE 2 | aortic valve disease 2
BMGC_DS14634,BMG_DS055797,"AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE"
BMGC_DS14635,BMG_DS055798,PEROXISOME BIOGENESIS DISORDER 5B | Peroxisome biogenesis disorder 5B | peroxisome biogenesis disorder 5B
BMGC_DS14636,BMG_DS055799,Aminoacylase 2 Deficiency | Canavan Disease
BMGC_DS14637,BMG_DS055800,"ADH-Resistant Diabetes Insipidus | Diabetes Insipidus, Nephrogenic"
BMGC_DS14638,BMG_DS055801,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY | hereditary spastic paraplegia 49"
BMGC_DS14639,BMG_DS055802,"CILIARY DYSKINESIA, PRIMARY, 17 | primary ciliary dyskinesia 17"
BMGC_DS14640,BMG_DS055803,"IMMUNODEFICIENCY, COMMON VARIABLE, 7 | common variable immunodeficiency 7 | immunodeficiency, common variable, 7"
BMGC_DS14641,BMG_DS055805,"CILIARY DYSKINESIA, PRIMARY, 18 | primary ciliary dyskinesia 18"
BMGC_DS14642,BMG_DS055806,"CILIARY DYSKINESIA, PRIMARY, 19 | primary ciliary dyskinesia 19"
BMGC_DS14643,BMG_DS055809,"Collodion Fetus | Ichthyosis, Lamellar"
BMGC_DS14644,BMG_DS055815,treatment-refractory schizophrenia
BMGC_DS14645,BMG_DS055818,ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 | alternating hemiplegia of childhood 1
BMGC_DS14646,BMG_DS055819,NOR POLYAGGLUTINATION SYNDROME
BMGC_DS14647,BMG_DS055820,ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
BMGC_DS14648,BMG_DS055826,"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 | cholestasis, intrahepatic, of pregnancy, 1 | intrahepatic cholestasis of pregnancy 1"
BMGC_DS14649,BMG_DS055827,"MACROGLOBULINEMIA, WALDENSTROM, SOMATIC"
BMGC_DS14650,BMG_DS055829,METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY | metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
BMGC_DS14651,BMG_DS055831,peroxisome biogenesis disorder 2B
BMGC_DS14652,BMG_DS055832,peroxisome biogenesis disorder 2A (Zellweger)
BMGC_DS14653,BMG_DS055833,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2 | peroxisome biogenesis disorder 2A | peroxisome biogenesis disorder, complementation group 2"
BMGC_DS14654,BMG_DS055836,"HYPERBILIRUBINEMIA, SHUNT, PRIMARY | hyperbilirubinemia, shunt, primary"
BMGC_DS14655,BMG_DS055841,HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 3 with or without anosmia
BMGC_DS14656,BMG_DS055843,"POLYDACTYLY, POSTAXIAL, TYPE A5 | polydactyly, postaxial, type A5"
BMGC_DS14657,BMG_DS055844,PEROXISOME BIOGENESIS DISORDER 3B | peroxisome biogenesis disorder 3B | peroxisome biogenesis disorder type 3B
BMGC_DS14658,BMG_DS055846,"THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA | thrombocytopenia, X-linked, with or without dyserythropoietic anemia"
BMGC_DS14659,BMG_DS055847,"ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES | X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | X-linked dyserythropoietic anemia"
BMGC_DS14660,BMG_DS055849,"AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 | epsilon-trimethyllysine hydroxylase deficiency"
BMGC_DS14661,BMG_DS055850,CORNELIA DE LANGE SYNDROME 5 | Cornelia de Lange syndrome 5
BMGC_DS14662,BMG_DS055851,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 32 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"
BMGC_DS14663,BMG_DS055852,LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 | linear skin defects with multiple congenital anomalies 2
BMGC_DS14664,BMG_DS055854,"HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT | X-linked central congenital hypothyroidism with late-onset testicular enlargement"
BMGC_DS14665,BMG_DS055855,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | neurodegeneration with brain iron accumulation 5
BMGC_DS14666,BMG_DS055856,CHROMOSOME Xq21 DELETION SYNDROME | choroideremia-deafness-obesity syndrome
BMGC_DS14667,BMG_DS055860,"PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF | parotid salivary glands, polycystic dysgenetic disease of"
BMGC_DS14668,BMG_DS055861,UV-SENSITIVE SYNDROME 1 | UV-sensitive syndrome 1
BMGC_DS14669,BMG_DS055863,"ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE | Fried's tooth and nail syndrome"
BMGC_DS14670,BMG_DS055864,ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
BMGC_DS14671,BMG_DS055866,CORTISONE REDUCTASE DEFICIENCY 1 | cortisone reductase deficiency 1
BMGC_DS14672,BMG_DS055868,familial meningioma
BMGC_DS14673,BMG_DS055869,"COENZYME Q10 DEFICIENCY, PRIMARY, 1 | coenzyme Q10 deficiency, primary, 1 | primary coenzyme Q10 deficiency 1"
BMGC_DS14674,BMG_DS055870,ACHROMATOPSIA 6 | achromatopsia 6
BMGC_DS14675,BMG_DS055871,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 | complex cortical dysplasia with other brain malformations 7"
BMGC_DS14676,BMG_DS055873,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR"
BMGC_DS14677,BMG_DS055874,"MYASTHENIC SYNDROME, CONGENITAL, 12 | congenital myasthenic syndrome 12"
BMGC_DS14678,BMG_DS055875,HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 4 with or without anosmia
BMGC_DS14679,BMG_DS055883,HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 5 with or without anosmia
BMGC_DS14680,BMG_DS055884,HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 6 with or without anosmia
BMGC_DS14681,BMG_DS055885,LYMPHOPROLIFERATIVE SYNDROME 1 | lymphoproliferative syndrome 1
BMGC_DS14682,BMG_DS055886,RETINITIS PIGMENTOSA 65 | cone-rod dystrophy 15 | retinitis pigmentosa 65
BMGC_DS14683,BMG_DS055888,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 | autosomal recessive congenital ichthyosis 8"
BMGC_DS14684,BMG_DS055889,"EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT | Emery-Dreifuss muscular dystrophy 7, autosomal dominant | autosomal dominant Emery-Dreifuss muscular dystrophy 7"
BMGC_DS14685,BMG_DS055890,"MICROPHTHALMIA, SYNDROMIC 11 | microphthalmia, syndromic 11 | syndromic microphthalmia 11"
BMGC_DS14686,BMG_DS055893,COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | COG6-congenital disorder of glycosylation | Component of oligomeric golgi complex 6-congenital disorder of glycosylation | Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | Congenital disorder of glycosylation type 2l | Congenital disorder of glycosylation type IIL
BMGC_DS14687,BMG_DS055894,"COFFIN-SIRIS SYNDROME 2 | Coffin-Siris syndrome 2 | intellectual disability, autosomal dominant 14"
BMGC_DS14688,BMG_DS055895,"COFFIN-SIRIS SYNDROME 3 | Coffin-Siris syndrome 3 | intellectual disability, autosomal dominant 15"
BMGC_DS14689,BMG_DS055896,"COFFIN-SIRIS SYNDROME 4 | Coffin-Siris syndrome 4 | intellectual disability, autosomal dominant 16"
BMGC_DS14690,BMG_DS055897,ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | acrodysostosis 2 with or without hormone resistance
BMGC_DS14691,BMG_DS055898,JOUBERT SYNDROME 17 | Joubert syndrome 17
BMGC_DS14692,BMG_DS055899,DIARRHEA 6 | congenital diarrhea 6
BMGC_DS14693,BMG_DS055907,HYPEREKPLEXIA 3 | hyperekplexia 3
BMGC_DS14694,BMG_DS055908,HYPEREKPLEXIA 2 | hyperekplexia 2
BMGC_DS14695,BMG_DS055909,UV-SENSITIVE SYNDROME 2 | UV-sensitive syndrome 2
BMGC_DS14696,BMG_DS055910,KERATOCONUS 5 | keratoconus 5
BMGC_DS14697,BMG_DS055911,KERATOCONUS 6 | keratoconus 6
BMGC_DS14698,BMG_DS055912,KERATOCONUS 8 | keratoconus 8
BMGC_DS14699,BMG_DS055913,KERATOCONUS 7 | keratoconus 7
BMGC_DS14700,BMG_DS055914,UV-SENSITIVE SYNDROME 3 | UV-sensitive syndrome 3
BMGC_DS14701,BMG_DS055915,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | congenital muscular dystrophy-dystroglycanopathy A7 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7"
BMGC_DS14702,BMG_DS055916,"COENZYME Q10 DEFICIENCY, PRIMARY, 6 | familial steroid-resistant nephrotic syndrome with sensorineural deafness | primary coenzyme Q10 deficiency 6"
BMGC_DS14703,BMG_DS055917,"COENZYME Q10 DEFICIENCY, PRIMARY, 2 | deafness-encephaloneuropathy-obesity-valvulopathy syndrome | primary coenzyme Q10 deficiency 2"
BMGC_DS14704,BMG_DS055918,"COENZYME Q10 DEFICIENCY, PRIMARY, 3 | coenzyme Q10 deficiency, primary, 3 | primary coenzyme Q10 deficiency 3"
BMGC_DS14705,BMG_DS055919,"COENZYME Q10 DEFICIENCY, PRIMARY, 5 | encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | primary coenzyme Q10 deficiency 5"
BMGC_DS14706,BMG_DS055921,CORTISONE REDUCTASE DEFICIENCY 2 | cortisone reductase deficiency 2
BMGC_DS14707,BMG_DS055923,"STUTTERING, FAMILIAL PERSISTENT, 4 | stuttering, familial persistent, 4"
BMGC_DS14708,BMG_DS055924,AURICULOCONDYLAR SYNDROME 2A | auriculocondylar syndrome 2
BMGC_DS14709,BMG_DS055926,CHROMOSOME 16p11.2 DUPLICATION SYNDROME | chromosome 16p11.2 duplication syndrome
BMGC_DS14710,BMG_DS055928,"CARDIOMYOPATHY, DILATED, 2B | dilated cardiomyopathy 2B"
BMGC_DS14711,BMG_DS055929,"MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 8, primary, autosomal recessive | primary autosomal recessive microcephaly 8"
BMGC_DS14712,BMG_DS055930,Luteal phase dependent febrile episode | Luteal phase dependent periodic fever | Menstrual cycle dependent febrile episode | Menstrual cycle dependent periodic fever | Menstrual cycle dependent periodic fever (disorder) | menstrual cycle-dependent periodic fever
BMGC_DS14713,BMG_DS055932,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21 | hypertrophic cardiomyopathy 21"
BMGC_DS14714,BMG_DS055933,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | pontocerebellar hypoplasia type 1B"
BMGC_DS14715,BMG_DS055934,Profound global developmental delay
BMGC_DS14716,BMG_DS055935,"influenza, severe, susceptibility to"
BMGC_DS14717,BMG_DS055936,"HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL ABNORMALITIES, IMPAIRED INTELLECTUAL DEVELOPMENT, AND RECURRENT INFLAMMATORY EPISODES | hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes"
BMGC_DS14718,BMG_DS055938,"ALAR CLEFT, ISOLATED | alar cleft, isolated"
BMGC_DS14719,BMG_DS055939,CATARACT 38 | cataract 38
BMGC_DS14720,BMG_DS055940,"IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY | combined immunodeficiency due to LRBA deficiency | common variable immunodeficiency 8"
BMGC_DS14721,BMG_DS055941,CORNELIA DE LANGE SYNDROME 4 | Cornelia de Lange syndrome 4
BMGC_DS14722,BMG_DS055942,Brown-Vialetto-van Laere syndrome 2
BMGC_DS14723,BMG_DS055943,"POROKERATOSIS 7, MULTIPLE TYPES | porokeratosis 7, multiple types"
BMGC_DS14724,BMG_DS055944,Carbohydrate deficient glycoprotein syndrome type 2k | Carbohydrate deficient glycoprotein syndrome type 2k (disorder) | Carbohydrate deficient glycoprotein syndrome type IIk | Congenital disorder of glycosylation type 2k | Congenital disorder of glycosylation type IIk | TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation | TMEM165-congenital disorder of glycosylation | Transmembrane protein 165 congenital disorder of glycosylation
BMGC_DS14725,BMG_DS055945,SECKEL SYNDROME 6 | Seckel syndrome 6
BMGC_DS14726,BMG_DS055946,GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY | glucocorticoid deficiency 4
BMGC_DS14727,BMG_DS055947,"basal cell carcinoma, susceptibility to, 7"
BMGC_DS14728,BMG_DS055948,Mitochondrial pyruvate carrier deficiency | Mitochondrial pyruvate carrier deficiency (disorder) | mitochondrial pyruvate carrier deficiency
BMGC_DS14729,BMG_DS055949,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1"
BMGC_DS14730,BMG_DS055950,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2 | pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2"
BMGC_DS14731,BMG_DS055951,"FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | facial paresis, hereditary congenital, 3"
BMGC_DS14732,BMG_DS055952,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 | hyperphosphatasia with impaired intellectual development syndrome 2 | hyperphosphatasia with intellectual disability syndrome 2
BMGC_DS14733,BMG_DS055953,"MYASTHENIC SYNDROME, CONGENITAL, 13 | congenital myasthenic syndrome 13"
BMGC_DS14734,BMG_DS055954,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 12 | autosomal dominant distal hereditary motor neuronopathy 12 | neuronopathy, distal hereditary motor, type 5B"
BMGC_DS14735,BMG_DS055955,Malan overgrowth syndrome | Malan overgrowth syndrome (disorder) | Sotos syndrome 2
BMGC_DS14736,BMG_DS055956,CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES | cerebellar dysfunction with variable cognitive and behavioral abnormalities | nonprogressive cerebellar ataxia with mental retardation
BMGC_DS14737,BMG_DS055957,"HETEROTAXY, VISCERAL, 6, AUTOSOMAL | heterotaxy, visceral, 6, autosomal"
BMGC_DS14738,BMG_DS055958,AMYOTROPHIC LATERAL SCLEROSIS 18 | amyotrophic lateral sclerosis type 18
BMGC_DS14739,BMG_DS055959,C3 GLOMERULOPATHY 3
BMGC_DS14740,BMG_DS055960,"multiple sclerosis, susceptibility to, 5"
BMGC_DS14741,BMG_DS055961,ADAMS-OLIVER SYNDROME 3 | Adams-Oliver syndrome 3
BMGC_DS14742,BMG_DS055962,JOUBERT SYNDROME 18 | Joubert syndrome 18
BMGC_DS14743,BMG_DS055963,LOEYS-DIETZ SYNDROME 4 | Loeys-Dietz syndrome 4
BMGC_DS14744,BMG_DS055964,"INTERSTITIAL NEPHRITIS, KARYOMEGALIC | karyomegalic interstitial nephritis"
BMGC_DS14745,BMG_DS055966,WEILL-MARCHESANI SYNDROME 3 | Weill-Marchesani syndrome 3
BMGC_DS14746,BMG_DS055967,ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | alternating hemiplegia of childhood 2
BMGC_DS14747,BMG_DS055968,SPERMATOGENIC FAILURE 10 | spermatogenic failure 10
BMGC_DS14748,BMG_DS055969,spermatogenic failure
BMGC_DS14749,BMG_DS055970,"NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT | congenital nystagmus 7 | nystagmus 7, congenital, autosomal dominant"
BMGC_DS14750,BMG_DS055971,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | congenital muscular dystrophy-dystroglycanopathy type A8 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8"
BMGC_DS14751,BMG_DS055972,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 | autosomal recessive spinocerebellar ataxia 13"
BMGC_DS14752,BMG_DS055973,"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 | amelogenesis imperfecta hypomaturation type 2A4"
BMGC_DS14753,BMG_DS055974,"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES | microcephalic primordial dwarfism due to RTTN deficiency"
BMGC_DS14754,BMG_DS055977,HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 8 with or without anosmia
BMGC_DS14755,BMG_DS055978,HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 9 with or without anosmia
BMGC_DS14756,BMG_DS055979,HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 10 with or without anosmia
BMGC_DS14757,BMG_DS055980,HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 11 with or without anosmia
BMGC_DS14758,BMG_DS055981,JOUBERT SYNDROME 19 | Joubert syndrome 19 | nephronophthisis 14
BMGC_DS14759,BMG_DS055982,TETRASOMY 15q26 | distal tetrasomy 15q
BMGC_DS14760,BMG_DS055983,"epilepsy, idiopathic generalized, susceptibility to, 12"
BMGC_DS14761,BMG_DS055984,"herpes simplex encephalitis, susceptibility to, 3"
BMGC_DS14762,BMG_DS055985,"herpes simplex encephalitis, susceptibility to, 4"
BMGC_DS14763,BMG_DS055986,SECKEL SYNDROME 7 | Seckel syndrome 7
BMGC_DS14764,BMG_DS055987,"MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 9, primary, autosomal recessive | primary autosomal recessive microcephaly 9"
BMGC_DS14765,BMG_DS055988,"OSTEOGENESIS IMPERFECTA, TYPE XIII | osteogenesis imperfecta type 13"
BMGC_DS14766,BMG_DS055989,"methylmalonic acidemia with homocystinuria, type cblJ"
BMGC_DS14767,BMG_DS055990,peroxisome biogenesis disorder 3A (Zellweger)
BMGC_DS14768,BMG_DS055991,"DEAFNESS, AUTOSOMAL RECESSIVE 98 | autosomal recessive nonsyndromic hearing loss 98"
BMGC_DS14769,BMG_DS055992,peroxisome biogenesis disorder 4A (Zellweger)
BMGC_DS14770,BMG_DS055993,PEROXISOME BIOGENESIS DISORDER 4B | Peroxisome biogenesis disorder 4B | peroxisome biogenesis disorder 4B
BMGC_DS14771,BMG_DS055994,peroxisome biogenesis disorder 5A (Zellweger)
BMGC_DS14772,BMG_DS055995,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5 | peroxisome biogenesis disorder 5A"
BMGC_DS14773,BMG_DS055996,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10 | peroxisome biogenesis disorder 5A"
BMGC_DS14774,BMG_DS055997,IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION | combined immunodeficiency due to STK4 deficiency
BMGC_DS14775,BMG_DS055998,"USHER SYNDROME, TYPE IJ | Usher syndrome type 1J"
BMGC_DS14776,BMG_DS055999,peroxisome biogenesis disorder 6A (Zellweger)
BMGC_DS14777,BMG_DS056000,peroxisome biogenesis disorder 6B
BMGC_DS14778,BMG_DS056001,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8 | peroxisome biogenesis disorder 7A"
BMGC_DS14779,BMG_DS056002,peroxisome biogenesis disorder 7B
BMGC_DS14780,BMG_DS056003,METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA | metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
BMGC_DS14781,BMG_DS056004,peroxisome biogenesis disorder 8A (Zellweger)
BMGC_DS14782,BMG_DS056005,peroxisome biogenesis disorder 8B
BMGC_DS14783,BMG_DS056006,"AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | autoinflammation, antibody deficiency, and immune dysregulation syndrome | autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"
BMGC_DS14784,BMG_DS056007,HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 15 with or without anosmia
BMGC_DS14785,BMG_DS056010,PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) | peroxisome biogenesis disorder 10A | peroxisome biogenesis disorder 10A (Zellweger)
BMGC_DS14786,BMG_DS056011,PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | peroxisome biogenesis disorder 11A | peroxisome biogenesis disorder 11A (Zellweger)
BMGC_DS14787,BMG_DS056012,PEROXISOME BIOGENESIS DISORDER 11B | Peroxisome biogenesis disorder 11B | peroxisome biogenesis disorder 11B
BMGC_DS14788,BMG_DS056013,PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) | peroxisome biogenesis disorder 12A | peroxisome biogenesis disorder 12A (Zellweger)
BMGC_DS14789,BMG_DS056014,PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) | peroxisome biogenesis disorder 13A | peroxisome biogenesis disorder 13A (Zellweger)
BMGC_DS14790,BMG_DS056015,SINOATRIAL NODE DYSFUNCTION AND DEAFNESS | sinoatrial node dysfunction and deafness
BMGC_DS14791,BMG_DS056016,HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 16 with or without anosmia
BMGC_DS14792,BMG_DS056017,DIAMOND-BLACKFAN ANEMIA 11 | Diamond-Blackfan anemia 11
BMGC_DS14793,BMG_DS056018,LETHAL CONGENITAL CONTRACTURE SYNDROME 4 | lethal congenital contracture syndrome 4
BMGC_DS14794,BMG_DS056019,"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 | catecholaminergic polymorphic ventricular tachycardia 4"
BMGC_DS14795,BMG_DS056020,PEROXISOME BIOGENESIS DISORDER 14B | peroxisome biogenesis disorder 14B
BMGC_DS14796,BMG_DS056021,BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY | branched-chain keto acid dehydrogenase kinase deficiency
BMGC_DS14797,BMG_DS056022,PERRAULT SYNDROME 2 | Perrault syndrome 2
BMGC_DS14798,BMG_DS056023,"ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE | ectodermal dysplasia 5 | ectodermal dysplasia 5, hair/nail type"
BMGC_DS14799,BMG_DS056024,"ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE | ectodermal dysplasia 6 | ectodermal dysplasia 6, hair/nail type"
BMGC_DS14800,BMG_DS056025,"ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE | ectodermal dysplasia 7 | ectodermal dysplasia 7, hair/nail type"
BMGC_DS14801,BMG_DS056026,"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE | ectodermal dysplasia 9 | ectodermal dysplasia 9, hair/nail type"
BMGC_DS14802,BMG_DS056027,"PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IB | palmoplantar keratoderma, punctate type ib"
BMGC_DS14803,BMG_DS056028,"DEAFNESS, AUTOSOMAL RECESSIVE 84B | autosomal recessive nonsyndromic hearing loss 84B"
BMGC_DS14804,BMG_DS056029,"DEAFNESS, AUTOSOMAL RECESSIVE 18B | autosomal recessive nonsyndromic hearing loss 18B"
BMGC_DS14805,BMG_DS056030,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3 | congenital heart defects, multiple types, 3"
BMGC_DS14806,BMG_DS056031,"developmental and epileptic encephalopathy, 14"
BMGC_DS14807,BMG_DS056032,Congenital pontocerebellar hypoplasia type 8 | Congenital pontocerebellar hypoplasia type 8 (disorder) | PCH8 - pontocerebellar hypoplasia type 8 | Pontocerebellar hypoplasia due to CHMP1A (charged multivesicular body protein 1A) mutation | Pontocerebellar hypoplasia type 8 | pontocerebellar hypoplasia type 8
BMGC_DS14808,BMG_DS056033,LEPTIN DEFICIENCY OR DYSFUNCTION | congenital leptin deficiency | obesity due to congenital leptin deficiency
BMGC_DS14809,BMG_DS056034,LEPTIN RECEPTOR DEFICIENCY | obesity due to leptin receptor gene deficiency
BMGC_DS14810,BMG_DS056035,Congenital pontocerebellar hypoplasia type 7 | Congenital pontocerebellar hypoplasia type 7 (disorder) | PCH7 - pontocerebellar hypoplasia type 7 | Pontocerebellar hypoplasia type 7 | pontocerebellar hypoplasia type 7
BMGC_DS14811,BMG_DS056036,JOUBERT SYNDROME 20 | Joubert syndrome 20
BMGC_DS14812,BMG_DS056037,"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 | cholestasis, intrahepatic, of pregnancy, 3 | intrahepatic cholestasis of pregnancy 3"
BMGC_DS14813,BMG_DS056038,Focal Facial Dermal Dysplasia 2 | Focal Facial Dermal Dysplasias | focal facial dermal dysplasia type II
BMGC_DS14814,BMG_DS056039,Focal Facial Dermal Dysplasia 4 | Focal Facial Dermal Dysplasias | focal facial dermal dysplasia type IV
BMGC_DS14815,BMG_DS056040,CARPENTER SYNDROME 2 | MEGF8-related Carpenter syndrome
BMGC_DS14816,BMG_DS056041,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 | congenital heart defects, multiple types, 2"
BMGC_DS14817,BMG_DS056042,"EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 | autosomal dominant nocturnal frontal lobe epilepsy 5"
BMGC_DS14818,BMG_DS056043,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 | developmental and epileptic encephalopathy 15 | developmental and epileptic encephalopathy, 15"
BMGC_DS14819,BMG_DS056044,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 | basal ganglia calcification, idiopathic, 4"
BMGC_DS14820,BMG_DS056045,"NEPHROTIC SYNDROME, TYPE 7 | immunoglobulin-mediated membranoproliferative glomerulonephritis | nephrotic syndrome type 7"
BMGC_DS14821,BMG_DS056046,Schuurs-Hoeijmakers syndrome
BMGC_DS14822,BMG_DS056047,phosphohydroxylysinuria
BMGC_DS14823,BMG_DS056048,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7 | autosomal recessive congenital ichthyosis 7"
BMGC_DS14824,BMG_DS056049,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 | autosomal recessive congenital ichthyosis 9"
BMGC_DS14825,BMG_DS056050,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 | autosomal recessive congenital ichthyosis 10"
BMGC_DS14826,BMG_DS056051,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q | Charcot-Marie-Tooth disease axonal type 2Q"
BMGC_DS14827,BMG_DS056052,"EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE | epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"
BMGC_DS14828,BMG_DS056053,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY | intellectual developmental disorder with autism and macrocephaly
BMGC_DS14829,BMG_DS056054,Cranio-cervical dystonia with laryngeal and upper limb involvement | Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) | DYT24 - dystonia 24 | Dystonia 24 | dystonia 24
BMGC_DS14830,BMG_DS056055,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 | congenital muscular dystrophy-dystroglycanopathy type A10 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10"
BMGC_DS14831,BMG_DS056056,"SPINAL MUSCULAR ATROPHY, JOKELA TYPE | lower motor neuron syndrome with late-adult onset | spinal muscular atrophy, Jokela type"
BMGC_DS14832,BMG_DS056057,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F | congenital stationary night blindness 1F"
BMGC_DS14833,BMG_DS056058,HYPOTRICHOSIS 11 | hypotrichosis 11
BMGC_DS14834,BMG_DS056059,DA5D - distal arthrogryposis type 5D | Distal arthrogryposis type 5 without ophthalmoparesis | Distal arthrogryposis type 5 without ophthalmoplegia | Distal arthrogryposis type 5D | Distal arthrogryposis type 5D (disorder) | distal arthrogryposis type 5D
BMGC_DS14835,BMG_DS056060,"OSTEOGENESIS IMPERFECTA, TYPE XIV | osteogenesis imperfecta type 14"
BMGC_DS14836,BMG_DS056061,"Alazami syndrome | Microcephalic primordial dwarfism Alazami type | Microcephalic primordial dwarfism Alazami type (disorder) | microcephalic primordial dwarfism, Alazami type"
BMGC_DS14837,BMG_DS056062,"BRACHYDACTYLY, TYPE A1, C | brachydactyly type A1C"
BMGC_DS14838,BMG_DS056063,GAND SYNDROME | GAND syndrome | severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
BMGC_DS14839,BMG_DS056064,NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS | autosomal dominant intellectual developmental disorder 19 | severe intellectual disability-progressive spastic diplegia syndrome
BMGC_DS14840,BMG_DS056065,ALZHEIMER DISEASE 17 | Alzheimer disease 17 | Alzheimer's disease 17
BMGC_DS14841,BMG_DS056066,SPERMATOGENIC FAILURE 11 | spermatogenic failure 11
BMGC_DS14842,BMG_DS056067,"colorectal cancer, susceptibility to, 12"
BMGC_DS14843,BMG_DS056068,MITOCHONDRIAL DNA DEPLETION SYNDROME 11 | mitochondrial DNA depletion syndrome 11
BMGC_DS14844,BMG_DS056069,"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 | autosomal recessive osteopetrosis 8"
BMGC_DS14845,BMG_DS056070,"autism, susceptibility to, 19"
BMGC_DS14846,BMG_DS056071,LEFT VENTRICULAR NONCOMPACTION 7 | left ventricular noncompaction 7
BMGC_DS14847,BMG_DS056072,"MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE | microcephalic primordial dwarfism due to ZNF335 deficiency | primary autosomal recessive microcephaly 10"
BMGC_DS14848,BMG_DS056073,COWDEN SYNDROME 4 | Cowden syndrome 4
BMGC_DS14849,BMG_DS056074,COWDEN SYNDROME 5 | Cowden syndrome 5
BMGC_DS14850,BMG_DS056075,COWDEN SYNDROME 6 | Cowden syndrome 6
BMGC_DS14851,BMG_DS056076,UROFACIAL SYNDROME 2 | urofacial syndrome 2
BMGC_DS14852,BMG_DS056077,"MICROPHTHALMIA, ISOLATED 8 | isolated microphthalmia 8"
BMGC_DS14853,BMG_DS056078,"CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | mitochondrial complex IV deficiency nuclear type 6"
BMGC_DS14854,BMG_DS056079,LYMPHOPROLIFERATIVE SYNDROME 2 | lymphoproliferative syndrome 2
BMGC_DS14855,BMG_DS056080,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 | epilepsy, familial adult myoclonic, 4 | familial adult myoclonic epilepsy 4"
BMGC_DS14856,BMG_DS056082,"melanoma, cutaneous malignant, susceptibility to, 9"
BMGC_DS14857,BMG_DS056083,"MAPLE SYRUP URINE DISEASE, MILD VARIANT | maple syrup urine disease, mild variant"
BMGC_DS14858,BMG_DS056084,"FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE | facial dysmorphism-immunodeficiency-livedo-short stature syndrome"
BMGC_DS14859,BMG_DS056086,"MICROPHTHALMIA/COLOBOMA 9 | microphthalmia, isolated, with coloboma 9"
BMGC_DS14860,BMG_DS056087,"RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME | progressive retinal dystrophy due to retinol transport defect"
BMGC_DS14861,BMG_DS056088,"Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome | Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) | Steel syndrome"
BMGC_DS14862,BMG_DS056089,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 | mitochondrial DNA deletion syndrome with progressive myopathy"
BMGC_DS14863,BMG_DS056091,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | mitochondrial complex III deficiency nuclear type 2"
BMGC_DS14864,BMG_DS056092,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 | mitochondrial complex III deficiency nuclear type 3"
BMGC_DS14865,BMG_DS056093,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | mitochondrial complex III deficiency nuclear type 4"
BMGC_DS14866,BMG_DS056094,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 | mitochondrial complex III deficiency nuclear type 5"
BMGC_DS14867,BMG_DS056095,short ulna-dysmorphism-hypotonia-intellectual disability syndrome
BMGC_DS14868,BMG_DS056096,CONE-ROD DYSTROPHY 17 | cone-rod dystrophy 17
BMGC_DS14869,BMG_DS056097,"Synactyly, camptodactyly and clinodactyly of fifth fingers, bifid halluces syndrome | Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome | Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) | Wahab syndrome | syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome"
BMGC_DS14870,BMG_DS056098,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | congenital muscular dystrophy-dystroglycanopathy type A11 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11"
BMGC_DS14871,BMG_DS056099,"CARDIOMYOPATHY, DILATED, 1II | dilated cardiomyopathy 1II"
BMGC_DS14872,BMG_DS056100,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 | autosomal recessive dyskeratosis congenita 5 | dyskeratosis congenita, autosomal recessive 5"
BMGC_DS14873,BMG_DS056101,LISSENCEPHALY 5 | cobblestone lissencephaly without muscular or ocular involvement | lissencephaly 5
BMGC_DS14874,BMG_DS056102,"BLEEDING DISORDER, PLATELET-TYPE, 15 | platelet-type bleeding disorder 15"
BMGC_DS14875,BMG_DS056104,Osteosclerotic metaphyseal dysplasia | Osteosclerotic metaphyseal dysplasia (disorder) | osteosclerotic metaphyseal dysplasia
BMGC_DS14876,BMG_DS056105,IMMUNODEFICIENCY 11 | immunodeficiency 11A | severe combined immunodeficiency due to CARD11 deficiency
BMGC_DS14877,BMG_DS056106,IMMUNODEFICIENCY 56 | cryptosporidiosis-chronic cholangitis-liver disease syndrome | immunodeficiency 56
BMGC_DS14878,BMG_DS056107,"AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE | agammaglobulinemia 7 | agammaglobulinemia 7, autosomal recessive"
BMGC_DS14879,BMG_DS056108,ATAXIA-OCULOMOTOR APRAXIA 3 | ataxia with oculomotor apraxia type 3
BMGC_DS14880,BMG_DS056109,"HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES | hydrocephalus, nonsyndromic, autosomal recessive 2"
BMGC_DS14881,BMG_DS056111,"Dysmorphism, conductive hearing loss, heart defect syndrome | Facial dysmorphism, conductive hearing loss, heart defect syndrome | Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder) | Tyshchenko syndrome | dysmorphism-conductive hearing loss-heart defect syndrome"
BMGC_DS14882,BMG_DS056113,complete atrioventricular canal-tetralogy of fallot syndrome
BMGC_DS14883,BMG_DS056116,posteroinferior myocardial infarction
BMGC_DS14884,BMG_DS056117,apical myocardial infarction
BMGC_DS14885,BMG_DS056119,cervical endometrial stromal sarcoma | endometrioid stromal sarcoma of the cervix
BMGC_DS14886,BMG_DS056120,endometrioid stromal sarcoma of the vagina | vaginal endometrial stromal sarcoma
BMGC_DS14887,BMG_DS056122,luminal A breast carcinoma | luminal breast carcinoma A
BMGC_DS14888,BMG_DS056123,luminal B breast carcinoma | luminal breast carcinoma B
BMGC_DS14889,BMG_DS056125,posterolateral myocardial infarction
BMGC_DS14890,BMG_DS056127,subendocardial myocardial infarction
BMGC_DS14891,BMG_DS056128,"Autosomal Recessive Centronuclear Myopathy | Myopathies, Structural, Congenital | autosomal recessive centronuclear myopathy"
BMGC_DS14892,BMG_DS056129,Congenital Osteopetrosis | Osteopetrosis
BMGC_DS14893,BMG_DS056153,Chemical and Drug Induced Liver Injury | Drug-Induced Acute Liver Injury
BMGC_DS14894,BMG_DS056154,Antithrombin III Deficiency | Hereditary Antithrombin Deficiency
BMGC_DS14895,BMG_DS056155,Zellweger Spectrum | Zellweger Syndrome
BMGC_DS14896,BMG_DS056156,Mycoplasma-Induced Stevens-Johnson Syndrome | Stevens-Johnson Syndrome
BMGC_DS14897,BMG_DS056157,Stevens-Johnson Syndrome | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
BMGC_DS14898,BMG_DS056164,Fetal Alcohol Spectrum Disorders | Partial Fetal Alcohol Syndrome | partial fetal alcohol syndrome
BMGC_DS14899,BMG_DS056165,"Autosomal Dominant Myotubular Myopathy | Myopathies, Structural, Congenital"
BMGC_DS14900,BMG_DS056166,"Hereditary Motor Neuronopathy | Muscular Atrophy, Spinal"
BMGC_DS14901,BMG_DS056167,Congenital Intestinal Aganglionosis | Hirschsprung Disease
BMGC_DS14902,BMG_DS056168,"Autosomal Recessive Chronic Granulomatous Disease | Granulomatous Disease, Chronic"
BMGC_DS14903,BMG_DS056207,Perioperative hypertension | Perioperative hypertension (disorder)
BMGC_DS14904,BMG_DS056210,Diabetic dyslipidemia associated with type 2 diabetes mellitus | Dyslipidemia associated with type II diabetes mellitus | Dyslipidemia due to type 2 diabetes mellitus | Dyslipidemia due to type 2 diabetes mellitus (disorder)
BMGC_DS14905,BMG_DS056232,Peroneal Nerve Entrapment | Peroneal Neuropathies
BMGC_DS14906,BMG_DS056240,Radial Nerve Entrapment | Radial Neuropathy
BMGC_DS14907,BMG_DS056250,Chronic kidney disease due to type 2 diabetes mellitus | Chronic kidney disease due to type 2 diabetes mellitus (disorder) | Chronic renal impairment due to type 2 diabetes mellitus | Chronic renal impairment due to type II diabetes mellitus | Diabetic chronic renal impairment due to type 2 diabetes mellitus
BMGC_DS14908,BMG_DS056286,Dextran pseudoallergy | Non-allergic hypersensitivity to dextran | Non-allergic hypersensitivity to dextran (finding) | Nonallergic hypersensitivity to dextran | Pseudoallergy to dextran
BMGC_DS14909,BMG_DS056363,HCM - Hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy (disorder) | Primary hypertrophic cardiomyopathy | Primary hypertrophic cardiomyopathy (disorder)
BMGC_DS14910,BMG_DS056364,KID syndrome | Keratitis-Ichthyosis-Deafness Syndrome
BMGC_DS14911,BMG_DS056367,Cone Dystrophy | Progressive Cone Dystrophy | cone dystrophy
BMGC_DS14912,BMG_DS056368,Hypothyrotropic hypothyroidism | Pituitary hypothyroidism | Secondary hypothyroidism | Secondary hypothyroidism (disorder) | TSH (thyroid stimulating hormone) deficiency
BMGC_DS14913,BMG_DS056369,Galactorrhea | Galactorrhoea | Galactorrhoea (disorder) | galactorrhea
BMGC_DS14914,BMG_DS056370,"ASCVD | Arteriosclerotic cardiovascular disease | Arteriosclerotic cardiovascular disease (disorder) | Arteriosclerotic cardiovascular disease, NOS | Cardiovascular arteriosclerosis | Cardiovascular degeneration with arteriosclerosis | Cardiovascular disease with arteriosclerosis | Cardiovascular sclerosis with arteriosclerosis | arteriosclerotic cardiovascular disease"
BMGC_DS14915,BMG_DS056372,"2,8-Dihydroxyadenine Urolithiasis | adenine phosphoribosyltransferase deficiency"
BMGC_DS14916,BMG_DS056375,Hemoglobin M Disease | hemoglobin M disease
BMGC_DS14917,BMG_DS056382,"Familial Osteochondritis Dissecans | short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans"
BMGC_DS14918,BMG_DS056387,Warts | common wart
BMGC_DS14919,BMG_DS056391,uveal cancer
BMGC_DS14920,BMG_DS056392,"Benign familial neutropaenia | Benign familial neutropenia | Chronic familial neutropaenia | Chronic familial neutropenia | Chronic familial neutropenia (disorder) | neutropenia, chronic familial"
BMGC_DS14921,BMG_DS056393,CRIE - Congenital reticular ichthyosiform erythroderma | Congenital reticular ichthyosiform erythroderma | Congenital reticular ichthyosiform erythroderma (disorder) | Ichthyosis variegata | Ichthyosis with confetti | congenital reticular ichthyosiform erythroderma
BMGC_DS14922,BMG_DS056401,"Leydig cell hypoplasia | Luteinizing Hormone Resistance, Female"
BMGC_DS14923,BMG_DS056402,Dmd-Associated Dilated Cardiomyopathy | X-linked dilated cardiomyopathy | dilated cardiomyopathy 3B
BMGC_DS14924,BMG_DS056403,atelosteogenesis type III
BMGC_DS14925,BMG_DS056404,Fatty Acid Hydroxylase-Associated Neurodegeneration | fatty acid hydroxylase-associated neurodegeneration
BMGC_DS14926,BMG_DS056406,11-Beta-hydroxylase deficiency
BMGC_DS14927,BMG_DS056407,5-Alpha Reductase Deficiency
BMGC_DS14928,BMG_DS056411,X-Linked Chondrodysplasia Punctata 1 | X-linked chondrodysplasia punctata 1
BMGC_DS14929,BMG_DS056421,Cyclic Hematopoesis
BMGC_DS14930,BMG_DS056424,Autosomal Recessive Cerebellar Ataxia Type 1
BMGC_DS14931,BMG_DS056429,dermatofibrosarcoma protuberans
BMGC_DS14932,BMG_DS056431,Coronavinae infectious disease | Coronavirus Infections | Middle East Respiratory Syndrome | Middle East respiratory syndrome
BMGC_DS14933,BMG_DS056432,GLYCOGEN STORAGE DISEASE IXa1 | glycogen storage disease IXa1
BMGC_DS14934,BMG_DS056436,Charcot-Marie-Tooth disease type 4B3 | Charcot-Marie-Tooth disease type 4B3 (disorder) | Charcot-Marie-Tooth disease with focally folded myelin
BMGC_DS14935,BMG_DS056440,3-Methylglutaconic Aciduria | 3-methylglutaconic aciduria
BMGC_DS14936,BMG_DS056480,Autosomal Dominant Nocturnal Frontal Lobe Epilepsy | autosomal dominant nocturnal frontal lobe epilepsy
BMGC_DS14937,BMG_DS056495,Ulcerative colitis in remission | Ulcerative colitis in remission (disorder)
BMGC_DS14938,BMG_DS056499,Acute exacerbation of chronic congestive heart failure | Acute exacerbation of chronic congestive heart failure (disorder) | Acute on chronic congestive heart failure
BMGC_DS14939,BMG_DS056505,Pulmonary arterial hypertension associated with congenital heart disease | Pulmonary arterial hypertension associated with congenital heart disease (disorder)
BMGC_DS14940,BMG_DS056557,Non-specific intraventricular conduction defect | Non-specific intraventricular conduction delay | Non-specific intraventricular conduction delay (disorder) | Nonspecific intraventricular conduction disorder
BMGC_DS14941,BMG_DS056670,Anti-D isoimmunisation affecting pregnancy | Anti-D isoimmunization affecting pregnancy | Anti-D isoimmunization affecting pregnancy (disorder)
BMGC_DS14942,BMG_DS056671,Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis | Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (disorder) | pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
BMGC_DS14943,BMG_DS056708,porencephaly
BMGC_DS14944,BMG_DS056715,"Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder) | Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type | Ohdo syndrome, Maat-Kievit-Brunner type | X-linked Ohdo syndrome | blepharophimosis - intellectual disability syndrome, MKB type"
BMGC_DS14945,BMG_DS056721,Cap Myopathy | cap myopathy
BMGC_DS14946,BMG_DS056723,Mitochondrial DNA Depletion Syndrome 8A | mitochondrial DNA depletion syndrome 1 | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 8b
BMGC_DS14947,BMG_DS056725,Metatropic Dysplasia Type 1
BMGC_DS14948,BMG_DS056726,Surfactant Dysfunction | hereditary pulmonary alveolar proteinosis
BMGC_DS14949,BMG_DS056727,Succinate-Coa Ligase Deficiency | mitochondrial DNA depletion syndrome 9
BMGC_DS14950,BMG_DS056728,Spastic Paraplegia Type 7
BMGC_DS14951,BMG_DS056730,Nonsyndromic Deafness | nonsyndromic deafness
BMGC_DS14952,BMG_DS056731,Isodicentric Chromosome 15 Syndrome | duplication/inversion 15q11
BMGC_DS14953,BMG_DS056732,Intranuclear Rod Myopathy
BMGC_DS14954,BMG_DS056734,Huntington Disease-Like Syndrome | Huntington disease-like syndrome
BMGC_DS14955,BMG_DS056735,"Hereditary Diffuse Leukoencephalopathy with Spheroids | leukoencephalopathy, hereditary diffuse, with spheroids"
BMGC_DS14956,BMG_DS056737,"Distal Hereditary Motor Neuropathy, Type II | autosomal dominant distal hereditary motor neuronopathy 2 | distal hereditary motor neuropathy type 2"
BMGC_DS14957,BMG_DS056738,"Deoxyguanosine Kinase Deficiency | mitochondrial DNA depletion syndrome 3 | mitochondrial DNA depletion syndrome, hepatocerebral form"
BMGC_DS14958,BMG_DS056740,Autosomal Recessive Primary Microcephaly | autosomal recessive primary microcephaly
BMGC_DS14959,BMG_DS056742,"Actin-Accumulation Myopathy | congenital myopathy 2a, typical, autosomal dominant"
BMGC_DS14960,BMG_DS056743,9q22.3 Microdeletion | monosomy 9q22.3
BMGC_DS14961,BMG_DS056745,"Hdl Deficiency, Type 2"
BMGC_DS14962,BMG_DS056746,X-Linked Csnb
BMGC_DS14963,BMG_DS056750,Human trifunctional protein deficiency | LCHADD - long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Mitochondrial trifunctional protein deficiency | Mitochondrial trifunctional protein deficiency (disorder) | Trifunctional enzyme deficiency | Trifunctional protein deficiency | long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
BMGC_DS14964,BMG_DS056754,Familial Hyperaldosteronism | familial hyperaldosteronism
BMGC_DS14965,BMG_DS056755,Childhood Myocerebrohepatopathy Spectrum
BMGC_DS14966,BMG_DS056757,"46,XY Disorder of Sex Development Due To LH Defects | Leydig cell hypoplasia"
BMGC_DS14967,BMG_DS056758,Chromosome Xq28 trisomy | Chromosome Xq28 trisomy (disorder) | Trisomy Xq28
BMGC_DS14968,BMG_DS056759,"Blepharophimosis, Ptosis, and Epicanthus Inversus Type II"
BMGC_DS14969,BMG_DS056760,"Trifunctional Protein Deficiency, Type 2"
BMGC_DS14970,BMG_DS056761,Bmpr1a-Related Juvenile Polyposis | juvenile polyposis syndrome
BMGC_DS14971,BMG_DS056762,Smad4-Related Juvenile Polyposis | juvenile polyposis syndrome
BMGC_DS14972,BMG_DS056772,"Meckel syndrome type 1 | Meckel syndrome, type 1"
BMGC_DS14973,BMG_DS056773,Nutrition Disorders | nutrition disease | nutritional disorder
BMGC_DS14974,BMG_DS056776,myxofibrosarcoma
BMGC_DS14975,BMG_DS056777,Dowling-Degos disease
BMGC_DS14976,BMG_DS056779,"hypokalemic periodic paralysis, type 1"
BMGC_DS14977,BMG_DS056780,Multicystic Dysplastic Kidney | multicystic dysplastic kidney
BMGC_DS14978,BMG_DS056783,Hyperthyroidism | Primary Hyperthyroidism | hyperthyroidism
BMGC_DS14979,BMG_DS056786,Pneumonia | Pneumonitis | Pneumonitis (disorder) | pneumonitis
BMGC_DS14980,BMG_DS056787,thymus neoplasm
BMGC_DS14981,BMG_DS056791,mesothelial neoplasm
BMGC_DS14982,BMG_DS056793,"RETINOSCHISIS 1, X-LINKED, JUVENILE | X-linked retinoschisis"
BMGC_DS14983,BMG_DS056794,intellectual disability
BMGC_DS14984,BMG_DS056795,JRA - Juvenile rheumatoid arthritis | Juvenile rheumatoid a. | Juvenile rheumatoid arthritis | Juvenile rheumatoid arthritis &/or Still's disease | Juvenile rheumatoid arthritis &/or Still's disease (disorder) | Juvenile rheumatoid arthritis (disorder) | Juvenile seropositive arthritis | Polyarticular juvenile rheumatoid arthritis | Polyarticular juvenile rheumatoid arthritis (disorder) | Still's disease | Still's disease - juvenile R.A
BMGC_DS14985,BMG_DS056796,Juvenile psoriatic arthritis | Juvenile psoriatic arthritis (disorder) | psoriasis-related juvenile idiopathic arthritis
BMGC_DS14986,BMG_DS056797,Drug-induced tardive dyskinesia | TD - Tardive dyskinesia | Tardive dyskinesia | Tardive dyskinesia (disorder)
BMGC_DS14987,BMG_DS056799,"Familial Primary Pulmonary Hypertension | Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia"
BMGC_DS14988,BMG_DS056800,"Axenfeld-Rieger Syndrome, Type 1 | Axenfeld-Rieger syndrome type 1"
BMGC_DS14989,BMG_DS056801,SMITH-MCCORT DYSPLASIA 2 | Smith-McCort dysplasia 2
BMGC_DS14990,BMG_DS056802,"SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 57"
BMGC_DS14991,BMG_DS056803,"SYMPHALANGISM, PROXIMAL, 1A | proximal symphalangism 1 | proximal symphalangism 1A"
BMGC_DS14992,BMG_DS056804,"multiple system atrophy 1, susceptibility to"
BMGC_DS14993,BMG_DS056805,MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY | myopathy due to myoadenylate deaminase deficiency
BMGC_DS14994,BMG_DS056806,"MYOPATHY, MYOFIBRILLAR, 3 | myofibrillar myopathy 3"
BMGC_DS14995,BMG_DS056807,OTOFACIOCERVICAL SYNDROME 1 | otofaciocervical syndrome 1
BMGC_DS14996,BMG_DS056808,OTOFACIOCERVICAL SYNDROME 2
BMGC_DS14997,BMG_DS056809,PACHYONYCHIA CONGENITA 3 | pachyonychia congenita 3
BMGC_DS14998,BMG_DS056810,PACHYONYCHIA CONGENITA 4 | pachyonychia congenita 4
BMGC_DS14999,BMG_DS056811,"pulmonary hypertension, neonatal, susceptibility to"
BMGC_DS15000,BMG_DS056812,ACTIVATED PI3K-DELTA SYNDROME | immunodeficiency 14
BMGC_DS15001,BMG_DS056813,BARDET-BIEDL SYNDROME 17 | Bardet-Biedl syndrome 17
BMGC_DS15002,BMG_DS056814,"CANDIDIASIS, FAMILIAL, 8 | candidiasis, familial, 8"
BMGC_DS15003,BMG_DS056815,"CARDIOMYOPATHY, DILATED, 1KK | dilated cardiomyopathy 1KK"
BMGC_DS15004,BMG_DS056816,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22"
BMGC_DS15005,BMG_DS056817,"CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE) | neuronal ceroid lipofuscinosis 13"
BMGC_DS15006,BMG_DS056818,CRANIOSYNOSTOSIS 3 | TCF12-related craniosynostosis | craniosynostosis 3
BMGC_DS15007,BMG_DS056819,DEVELOPMENTAL DYSPLASIA OF THE HIP 2 | developmental dysplasia of the hip 2
BMGC_DS15008,BMG_DS056820,"EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE | epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"
BMGC_DS15009,BMG_DS056821,"Bartter syndrome with hypocalcemia | HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 | autosomal dominant hypocalcemia 1"
BMGC_DS15010,BMG_DS056823,AMYOTROPHIC LATERAL SCLEROSIS 19 | amyotrophic lateral sclerosis type 19
BMGC_DS15011,BMG_DS056824,AMYOTROPHIC LATERAL SCLEROSIS 20 | amyotrophic lateral sclerosis type 20
BMGC_DS15012,BMG_DS056825,LEBER CONGENITAL AMAUROSIS 17 | Leber congenital amaurosis 17
BMGC_DS15013,BMG_DS056826,LEFT VENTRICULAR NONCOMPACTION 10 | dilated cardiomyopathy 1MM | left ventricular noncompaction 10
BMGC_DS15014,BMG_DS056827,mandibular hypoplasia-deafness-progeroid syndrome
BMGC_DS15015,BMG_DS056828,RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 | renal-hepatic-pancreatic dysplasia 1
BMGC_DS15016,BMG_DS056829,RETINITIS PIGMENTOSA 66 | retinitis pigmentosa 66
BMGC_DS15017,BMG_DS056836,CATARACT 13 WITH ADULT i PHENOTYPE | cataract 13 with adult I phenotype
BMGC_DS15018,BMG_DS056837,"ALBINISM, OCULOCUTANEOUS, TYPE VI | oculocutaneous albinism type 6 | oculocutaneous albinism type VI"
BMGC_DS15019,BMG_DS056838,CATARACT 29 | cataract 29
BMGC_DS15020,BMG_DS056839,"CATARACT 20, MULTIPLE TYPES"
BMGC_DS15021,BMG_DS056840,CATARACT 30 | cataract 30
BMGC_DS15022,BMG_DS056841,CATARACT 41 | cataract 41
BMGC_DS15023,BMG_DS056842,"COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT | uveal coloboma-cleft lip and palate-intellectual disability"
BMGC_DS15024,BMG_DS056843,FOVEAL HYPOPLASIA 1 | foveal hypoplasia 1
BMGC_DS15025,BMG_DS056844,"CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED"
BMGC_DS15026,BMG_DS056851,"MEGALENCEPHALY, AUTOSOMAL DOMINANT | megalencephaly, autosomal dominant"
BMGC_DS15027,BMG_DS056854,"PRECOCIOUS PUBERTY, CENTRAL, 1 | central precocious puberty 1"
BMGC_DS15028,BMG_DS056858,"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 | microcytic anemia with liver iron overload"
BMGC_DS15029,BMG_DS056859,BARDET-BIEDL SYNDROME 18 | Bardet-Biedl syndrome 18
BMGC_DS15030,BMG_DS056863,"CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT | cystic fibrosis-gastritis-megaloblastic anemia syndrome"
BMGC_DS15031,BMG_DS056865,DEAFNESS AND MYOPIA | high myopia-sensorineural deafness syndrome
BMGC_DS15032,BMG_DS056872,"MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE | macrocephaly/megalencephaly syndrome, autosomal recessive"
BMGC_DS15033,BMG_DS056874,"XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME | xeroderma pigmentosum, type F/Cockayne syndrome"
BMGC_DS15034,BMG_DS056875,"CONGENITAL SHORT BOWEL SYNDROME, X-LINKED | X-linked chronic idiopathic intestinal pseudo-obstruction"
BMGC_DS15035,BMG_DS056876,"DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION | deafness, dystonia, and cerebral hypomyelination | severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"
BMGC_DS15036,BMG_DS056878,PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 | paroxysmal nocturnal hemoglobinuria 1
BMGC_DS15037,BMG_DS056879,CDG2M - congenital disorder of glycosylation type 2m | Congenital disorder of glycosylation type 2m | Congenital disorder of glycosylation type IIm | SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation | SLC35A2-congenital disorder of glycosylation | Solute carrier family 35 member A2 congenital disorder of glycosylation | Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)
BMGC_DS15038,BMG_DS056880,"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 | Charcot-Marie-Tooth disease X-linked dominant 6"
BMGC_DS15039,BMG_DS056882,susceptibility to angioedema induced by ACE inhibitors
BMGC_DS15040,BMG_DS056883,"PARKINSONISM WITH SPASTICITY, X-LINKED | X-linked parkinsonism-spasticity syndrome"
BMGC_DS15041,BMG_DS056884,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98 | X-linked intellectual disability, Cantagrel type | non-syndromic X-linked intellectual disability 98"
BMGC_DS15042,BMG_DS056885,"DEAFNESS, X-LINKED 6 | X-linked deafness 6 | hearing loss, X-linked 6"
BMGC_DS15043,BMG_DS056886,"MICROPHTHALMIA, SYNDROMIC 13 | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | syndromic microphthalmia 13"
BMGC_DS15044,BMG_DS056887,"OLMSTED SYNDROME, X-LINKED | Olmsted syndrome, X-linked | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques"
BMGC_DS15045,BMG_DS056888,"intellectual disability, X-linked 99"
BMGC_DS15046,BMG_DS056889,"GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA | X-linked dyskeratosis congenita"
BMGC_DS15047,BMG_DS056891,CRANIOSYNOSTOSIS 4 | craniosynostosis 4
BMGC_DS15048,BMG_DS056892,"DYSERYTHROPOIESIS, CONGENITAL, WITH ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN | Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin"
BMGC_DS15049,BMG_DS056893,"CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT | autosomal dominant cerebellar ataxia, deafness and narcolepsy"
BMGC_DS15050,BMG_DS056896,"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 | advanced sleep phase syndrome 1"
BMGC_DS15051,BMG_DS056898,AMYOTROPHIC LATERAL SCLEROSIS 21 | amyotrophic lateral sclerosis type 21
BMGC_DS15052,BMG_DS056899,MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
BMGC_DS15053,BMG_DS056900,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 | partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome"
BMGC_DS15054,BMG_DS056904,CHROMOSOME 15q11.2 DUPLICATION SYNDROME
BMGC_DS15055,BMG_DS056905,FOVEAL HYPOPLASIA 2 | foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
BMGC_DS15056,BMG_DS056907,"CATARACT 23, MULTIPLE TYPES | cataract 23"
BMGC_DS15057,BMG_DS056908,CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES
BMGC_DS15058,BMG_DS056910,"CATARACT 33, MULTIPLE TYPES | cataract 33"
BMGC_DS15059,BMG_DS056911,"CATARACT 12, MULTIPLE TYPES | cataract 12 multiple types"
BMGC_DS15060,BMG_DS056912,LEFT VENTRICULAR NONCOMPACTION 9 | left ventricular noncompaction 9
BMGC_DS15061,BMG_DS056913,MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
BMGC_DS15062,BMG_DS056915,"CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME | chromosome 17p13.3 duplication syndrome"
BMGC_DS15063,BMG_DS056916,"CATARACT 16, MULTIPLE TYPES | cataract 16 multiple types"
BMGC_DS15064,BMG_DS056917,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 | complex cortical dysplasia with other brain malformations 1"
BMGC_DS15065,BMG_DS056918,PERRAULT SYNDROME 3 | Perrault syndrome 3
BMGC_DS15066,BMG_DS056919,CHROMOSOME 2p16.3 DELETION SYNDROME | chromosome 2p16.3 deletion syndrome
BMGC_DS15067,BMG_DS056920,BONE MARROW FAILURE SYNDROME 1 | autosomal dominant aplasia and myelodysplasia
BMGC_DS15068,BMG_DS056921,IMMUNODEFICIENCY 32A | Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | immunodeficiency 32A
BMGC_DS15069,BMG_DS056923,"EPISODIC PAIN SYNDROME, FAMILIAL, 1 | familial episodic pain syndrome 1 | familial episodic pain syndrome with predominantly upper body involvement"
BMGC_DS15070,BMG_DS056926,"MYASTHENIC SYNDROME, CONGENITAL, 8 | congenital myasthenic syndrome 8"
BMGC_DS15071,BMG_DS056928,"ALBINISM, OCULOCUTANEOUS, TYPE VII | oculocutaneous albinism type 7 | oculocutaneous albinism type VII"
BMGC_DS15072,BMG_DS056929,"CATARACT 39, MULTIPLE TYPES | cataract 39 multiple types"
BMGC_DS15073,BMG_DS056930,"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 | autosomal recessive dyskeratosis congenita 5 | dyskeratosis congenita, autosomal dominant 4"
BMGC_DS15074,BMG_DS056931,"OSTEOGENESIS IMPERFECTA, TYPE XV | osteogenesis imperfecta type 15"
BMGC_DS15075,BMG_DS056932,"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 | advanced sleep phase syndrome 2"
BMGC_DS15076,BMG_DS056933,corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
BMGC_DS15077,BMG_DS056934,"POLYDACTYLY, POSTAXIAL, TYPE A6 | polydactyly, postaxial, type A6"
BMGC_DS15078,BMG_DS056935,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B"
BMGC_DS15079,BMG_DS056936,schizophrenia 18
BMGC_DS15080,BMG_DS056937,"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 | severe congenital hypochromic anemia with ringed sideroblasts"
BMGC_DS15081,BMG_DS056939,"CARDIOMYOPATHY, DILATED, 1JJ | dilated cardiomyopathy 1JJ"
BMGC_DS15082,BMG_DS056940,CIDEC-related familial partial lipodystrophy | Cell death inducing DFFA like effector C-related familial partial lipodystrophy | Cell death inducing DFFA like effector C-related familial partial lipodystrophy (disorder) | FPLD5 - familial partial lipodystrophy type 5
BMGC_DS15083,BMG_DS056941,"NEPHROTIC SYNDROME, TYPE 8 | nephrotic syndrome type 8 | nephrotic syndrome, type 8"
BMGC_DS15084,BMG_DS056942,"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4"
BMGC_DS15085,BMG_DS056943,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | congenital muscular dystrophy-dystroglycanopathy type A12 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12"
BMGC_DS15086,BMG_DS056944,HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 17 with or without anosmia
BMGC_DS15087,BMG_DS056945,HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 18 with or without anosmia
BMGC_DS15088,BMG_DS056946,"CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4"
BMGC_DS15089,BMG_DS056947,HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 19 with or without anosmia
BMGC_DS15090,BMG_DS056948,HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 20 with or without anosmia
BMGC_DS15091,BMG_DS056949,HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 21 with or without anosmia
BMGC_DS15092,BMG_DS056950,"FANCONI ANEMIA, COMPLEMENTATION GROUP Q | Fanconi anemia complementation group Q"
BMGC_DS15093,BMG_DS056951,NGLY1 deficiency | congenital disorder of deglycosylation | congenital disorder of deglycosylation 1
BMGC_DS15094,BMG_DS056952,"CATARACT 15, MULTIPLE TYPES | cataract 15 multiple types"
BMGC_DS15095,BMG_DS056953,"CATARACT 19, MULTIPLE TYPES | cataract 19 multiple types"
BMGC_DS15096,BMG_DS056954,CARDIOFACIOCUTANEOUS SYNDROME 2 | cardiofaciocutaneous syndrome 2
BMGC_DS15097,BMG_DS056955,CARDIOFACIOCUTANEOUS SYNDROME 3 | cardiofaciocutaneous syndrome 3
BMGC_DS15098,BMG_DS056956,CARDIOFACIOCUTANEOUS SYNDROME 4 | cardiofaciocutaneous syndrome 4
BMGC_DS15099,BMG_DS056957,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 | complex cortical dysplasia with other brain malformations 2"
BMGC_DS15100,BMG_DS056958,"NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE | congenital neutropenia-myelofibrosis-nephromegaly syndrome | severe congenital neutropenia 5"
BMGC_DS15101,BMG_DS056960,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | congenital muscular dystrophy-dystroglycanopathy type A13 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13"
BMGC_DS15102,BMG_DS056961,"MYOFIBROMATOSIS, INFANTILE, 2 | myofibromatosis, infantile, 2"
BMGC_DS15103,BMG_DS056962,"CILIARY DYSKINESIA, PRIMARY, 21 | primary ciliary dyskinesia 21"
BMGC_DS15104,BMG_DS056963,ADAMS-OLIVER SYNDROME 4 | Adams-Oliver syndrome 4
BMGC_DS15105,BMG_DS056967,"SYMPHALANGISM, PROXIMAL, 1B | proximal symphalangism 2 | symphalangism, proximal, 1B"
BMGC_DS15106,BMG_DS056968,PERRAULT SYNDROME 4 | Perrault syndrome 4
BMGC_DS15107,BMG_DS056969,DOWLING-DEGOS DISEASE 2 | Dowling-Degos disease 2
BMGC_DS15108,BMG_DS056970,"Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Shaheen syndrome | hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"
BMGC_DS15109,BMG_DS056971,IBA57 (iron-sulfur cluster assembly factor IBA57) deficiency | MMDS3 - multiple mitochondrial dysfunctions syndrome type 3 | Multiple mitochondrial dysfunctions syndrome type 3 | Multiple mitochondrial dysfunctions syndrome type 3 (disorder) | multiple mitochondrial dysfunctions syndrome 3
BMGC_DS15110,BMG_DS056972,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 | developmental and epileptic encephalopathy 16 | developmental and epileptic encephalopathy, 16"
BMGC_DS15111,BMG_DS056974,"PULMONARY HYPERTENSION, PRIMARY, 3 | pulmonary hypertension, primary, 3"
BMGC_DS15112,BMG_DS056975,"PULMONARY HYPERTENSION, PRIMARY, 4 | pulmonary hypertension, primary, 4"
BMGC_DS15113,BMG_DS056976,"Central precocious puberty 2 | precocious puberty, central, 2"
BMGC_DS15114,BMG_DS056977,NEMALINE MYOPATHY 8 | nemaline myopathy 8
BMGC_DS15115,BMG_DS056978,"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome | Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) | Ehlers-Danlos syndrome progeroid type 2 | Ehlers-Danlos syndrome, spondylodysplastic type, 2"
BMGC_DS15116,BMG_DS056979,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | congenital muscular dystrophy-dystroglycanopathy A14 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14"
BMGC_DS15117,BMG_DS056980,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 | muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | muscular dystrophy-dystroglycanopathy type B14"
BMGC_DS15118,BMG_DS056981,NOONAN SYNDROME 8 | Noonan syndrome 8
BMGC_DS15119,BMG_DS056982,"HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 | autosomal dominant hypocalcemia 2"
BMGC_DS15120,BMG_DS056983,ESTROGEN RESISTANCE | estrogen resistance syndrome
BMGC_DS15121,BMG_DS056987,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 | developmental and epileptic encephalopathy 94
BMGC_DS15122,BMG_DS056988,LEFT VENTRICULAR NONCOMPACTION 8 | dilated cardiomyopathy 1LL | left ventricular noncompaction 8
BMGC_DS15123,BMG_DS056989,"CARDIOMYOPATHY, DILATED, 1LL | cardiomyopathy, dilated, 1LL | dilated cardiomyopathy 1LL"
BMGC_DS15124,BMG_DS056990,CONE-ROD DYSTROPHY 18 | cone-rod dystrophy 18
BMGC_DS15125,BMG_DS056991,"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C | Charcot-Marie-Tooth disease recessive intermediate C"
BMGC_DS15126,BMG_DS056992,"ATRIAL FIBRILLATION, FAMILIAL, 13 | atrial fibrillation, familial, 13"
BMGC_DS15127,BMG_DS056993,"ATRIAL FIBRILLATION, FAMILIAL, 14 | atrial fibrillation, familial, 14"
BMGC_DS15128,BMG_DS056994,NEPHRONOPHTHISIS 16 | nephronophthisis 16
BMGC_DS15129,BMG_DS056995,IMMUNODEFICIENCY 7 | TCR-alpha-beta-positive T-cell deficiency | immunodeficiency 7
BMGC_DS15130,BMG_DS056997,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 | combined oxidative phosphorylation deficiency 16 | infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
BMGC_DS15131,BMG_DS056998,"CARDIOMYOPATHY, DILATED, 1MM | cardiomyopathy, dilated, 1MM | dilated cardiomyopathy 1MM"
BMGC_DS15132,BMG_DS057001,"MECKEL SYNDROME, TYPE 11 | Meckel syndrome, type 11"
BMGC_DS15133,BMG_DS057002,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 | multiple congenital anomalies-hypotonia-seizures syndrome 3
BMGC_DS15134,BMG_DS057003,PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 | paroxysmal nocturnal hemoglobinuria 2
BMGC_DS15135,BMG_DS057004,"EPILEPSY, EARLY-ONSET, 5, WITH OR WITHOUT DEVELOPMENTAL DELAY | epilepsy, familial adult myoclonic, 5 | familial adult myoclonic epilepsy 5"
BMGC_DS15136,BMG_DS057005,Severe combined immunodeficiency due to CORO1A deficiency | Severe combined immunodeficiency due to coronin 1A deficiency | Severe combined immunodeficiency due to coronin 1A deficiency (disorder) | severe combined immunodeficiency due to CORO1A deficiency
BMGC_DS15137,BMG_DS057006,DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 | dyschromatosis universalis hereditaria 3
BMGC_DS15138,BMG_DS057007,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 | complex cortical dysplasia with other brain malformations 3"
BMGC_DS15139,BMG_DS057008,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 | complex cortical dysplasia with other brain malformations 4"
BMGC_DS15140,BMG_DS057009,SPERMATOGENIC FAILURE 12 | spermatogenic failure 12
BMGC_DS15141,BMG_DS057010,"MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 11, primary, autosomal recessive | primary autosomal recessive microcephaly 11"
BMGC_DS15142,BMG_DS057011,RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 | renal-hepatic-pancreatic dysplasia 2
BMGC_DS15143,BMG_DS057012,"MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE | mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | mitochondrial DNA depletion syndrome 12b"
BMGC_DS15144,BMG_DS057013,"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 | hypotonia, infantile, with psychomotor retardation and characteristic facies 1"
BMGC_DS15145,BMG_DS057014,"MYOPIA 22, AUTOSOMAL DOMINANT | myopia 22, autosomal dominant"
BMGC_DS15146,BMG_DS057015,INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 | inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
BMGC_DS15147,BMG_DS057016,INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 | inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
BMGC_DS15148,BMG_DS057017,"EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency"
BMGC_DS15149,BMG_DS057018,"MYOPIA 23, AUTOSOMAL RECESSIVE | myopia 23, autosomal recessive"
BMGC_DS15150,BMG_DS057019,SPECIFIC LANGUAGE IMPAIRMENT 5 | specific language impairment 5
BMGC_DS15151,BMG_DS057020,CHROMOSOME 3q13.31 DELETION SYNDROME | chromosome 3q13.31 deletion syndrome
BMGC_DS15152,BMG_DS057021,"AORTIC ANEURYSM, FAMILIAL THORACIC 8 | aortic aneurysm, familial thoracic 8"
BMGC_DS15153,BMG_DS057022,INFANTILE LIVER FAILURE SYNDROME 1 | infantile liver failure syndrome 1
BMGC_DS15154,BMG_DS057023,"MACULAR DEGENERATION, AGE-RELATED, 13 | age related macular degeneration 13"
BMGC_DS15155,BMG_DS057024,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 | combined oxidative phosphorylation defect type 17 | combined oxidative phosphorylation deficiency 17
BMGC_DS15156,BMG_DS057025,"CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS | catecholaminergic polymorphic ventricular tachycardia 5"
BMGC_DS15157,BMG_DS057026,"CILIARY DYSKINESIA, PRIMARY, 22 | primary ciliary dyskinesia 22"
BMGC_DS15158,BMG_DS057027,"CILIARY DYSKINESIA, PRIMARY, 23 | primary ciliary dyskinesia 23"
BMGC_DS15159,BMG_DS057028,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 | mitochondrial complex III deficiency nuclear type 6"
BMGC_DS15160,BMG_DS057030,"MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS | microcornea-myopic chorioretinal atrophy"
BMGC_DS15161,BMG_DS057031,IMMUNODEFICIENCY 12 | combined immunodeficiency due to MALT1 deficiency | immunodeficiency 12
BMGC_DS15162,BMG_DS057032,F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form | F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) | FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy | FBXL4-related early onset mitochondrial encephalopathy | FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome | Mitochondrial DNA depletion syndrome 13 encephalomyopathic type | mitochondrial DNA depletion syndrome 13
BMGC_DS15163,BMG_DS057033,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 | developmental and epileptic encephalopathy 17 | developmental and epileptic encephalopathy, 17"
BMGC_DS15164,BMG_DS057034,"PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES | aldosterone-producing adenoma with seizures and neurological abnormalities"
BMGC_DS15165,BMG_DS057036,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 | developmental and epileptic encephalopathy 18 | developmental and epileptic encephalopathy, 18"
BMGC_DS15166,BMG_DS057037,"CILIARY DYSKINESIA, PRIMARY, 24 | primary ciliary dyskinesia 24"
BMGC_DS15167,BMG_DS057038,"CILIARY DYSKINESIA, PRIMARY, 25 | primary ciliary dyskinesia 25"
BMGC_DS15168,BMG_DS057039,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 | basal ganglia calcification, idiopathic, 5"
BMGC_DS15169,BMG_DS057040,INFANTILE LIVER FAILURE SYNDROME 2 | infantile liver failure syndrome 2
BMGC_DS15170,BMG_DS057041,"MACULAR DEGENERATION, AGE-RELATED, 14 | age related macular degeneration 14"
BMGC_DS15171,BMG_DS057042,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R | Charcot-Marie-Tooth disease type 2R"
BMGC_DS15172,BMG_DS057043,"SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE | early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | hereditary spastic paraplegia 79B"
BMGC_DS15173,BMG_DS057044,intellectual disability-hypotonia-spasticity-sleep disorder syndrome
BMGC_DS15174,BMG_DS057045,"CILIARY DYSKINESIA, PRIMARY, 26 | primary ciliary dyskinesia 26"
BMGC_DS15175,BMG_DS057046,intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
BMGC_DS15176,BMG_DS057047,SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 8 with or without polydactyly
BMGC_DS15177,BMG_DS057048,"CILIARY DYSKINESIA, PRIMARY, 27 | primary ciliary dyskinesia 27"
BMGC_DS15178,BMG_DS057049,"CILIARY DYSKINESIA, PRIMARY, 28 | primary ciliary dyskinesia 28"
BMGC_DS15179,BMG_DS057050,"TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 | telangiectasia, hereditary hemorrhagic, type 5"
BMGC_DS15180,BMG_DS057051,"Congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome | SAM syndrome | Severe dermatitis, multiple allergies, metabolic wasting syndrome | Severe dermatitis, multiple allergies, metabolic wasting syndrome (disorder) | severe dermatitis-multiple allergies-metabolic wasting syndrome"
BMGC_DS15181,BMG_DS057054,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38 | autosomal recessive intellectual developmental disorder 38 | developmental delay with autism spectrum disorder and gait instability"
BMGC_DS15182,BMG_DS057055,IMMUNODEFICIENCY 13 | idiopathic CD4 lymphocytopenia | immunodeficiency 13
BMGC_DS15183,BMG_DS057057,Cole disease | Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification | Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification (disorder) | hypopigmentation-punctate palmoplantar keratoderma syndrome
BMGC_DS15184,BMG_DS057063,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 | corneal dystrophy, Fuchs endothelial, 8"
BMGC_DS15185,BMG_DS057064,"MICROPHTHALMIA, SYNDROMIC 12 | microphthalmia, syndromic 12 | syndromic microphthalmia 12"
BMGC_DS15186,BMG_DS057065,"PARKINSON DISEASE 19A, JUVENILE-ONSET | juvenile onset Parkinson disease 19A"
BMGC_DS15187,BMG_DS057066,"craniosynostosis 5, susceptibility to"
BMGC_DS15188,BMG_DS057067,"PARKINSON DISEASE 20, EARLY-ONSET | Parkinson's disease 20 | early-onset Parkinson disease 20"
BMGC_DS15189,BMG_DS057069,CHROMOSOME 22q13 DUPLICATION SYNDROME | chromosome 22q13 duplication syndrome
BMGC_DS15190,BMG_DS057070,"EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 | Ehlers-Danlos syndrome musculocontractural type 2 | Ehlers-Danlos syndrome, musculocontractural type 2"
BMGC_DS15191,BMG_DS057071,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39 | autosomal recessive intellectual developmental disorder 39 | severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"
BMGC_DS15192,BMG_DS057072,TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE | testicular anomalies with or without congenital heart disease
BMGC_DS15193,BMG_DS057074,PERIVENTRICULAR NODULAR HETEROTOPIA 6 | periventricular nodular heterotopia 6
BMGC_DS15194,BMG_DS057075,"leukemia, acute lymphoblastic, susceptibility to, 3"
BMGC_DS15195,BMG_DS057076,VAN MALDERGEM SYNDROME 2 | Van Maldergem syndrome 2 | van Maldergem syndrome 2
BMGC_DS15196,BMG_DS057077,Prader-Willi-like syndrome | Prader-Willi-like syndrome (disorder) | Schaaf-Yang syndrome
BMGC_DS15197,BMG_DS057078,Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction | HSAN7- hereditary sensory and autonomic neuropathy type 7 | Hereditary sensory and autonomic neuropathy type 7 | Hereditary sensory and autonomic neuropathy type 7 (disorder) | Hereditary sensory and autonomic neuropathy type VII | Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction | hereditary sensory and autonomic neuropathy type 7
BMGC_DS15198,BMG_DS057079,DIAMOND-BLACKFAN ANEMIA 12 | Diamond-Blackfan anemia 12
BMGC_DS15199,BMG_DS057080,"EPISODIC PAIN SYNDROME, FAMILIAL, 2 | episodic pain syndrome, familial, 2 | familial episodic pain syndrome 2"
BMGC_DS15200,BMG_DS057081,"EPISODIC PAIN SYNDROME, FAMILIAL, 3 | familial episodic pain syndrome 3 | familial episodic pain syndrome with predominantly lower limb involvement"
BMGC_DS15201,BMG_DS057082,"ARTHROGRYPOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | autism spectrum disorder - epilepsy - arthrogryposis syndrome"
BMGC_DS15202,BMG_DS057083,multiple fibroadenoma of the breast
BMGC_DS15203,BMG_DS057084,"melioidosis, susceptibility to"
BMGC_DS15204,BMG_DS057085,"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III | autoimmune lymphoproliferative syndrome type 3 | autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD"
BMGC_DS15205,BMG_DS057086,COMPLEMENT FACTOR B DEFICIENCY | complement factor b deficiency
BMGC_DS15206,BMG_DS057087,RETINITIS PIGMENTOSA 67 | retinitis pigmentosa 67
BMGC_DS15207,BMG_DS057088,"NEPHROTIC SYNDROME, TYPE 9 | nephrotic syndrome type 9 | nephrotic syndrome, type 9"
BMGC_DS15208,BMG_DS057089,"Asparagine synthetase deficiency | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) | congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"
BMGC_DS15209,BMG_DS057090,"IMMUNODEFICIENCY, COMMON VARIABLE, 10 | common variable immunodeficiency 10 | immunodeficiency, common variable, 10"
BMGC_DS15210,BMG_DS057091,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 | combined oxidative phosphorylation deficiency 18 | growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
BMGC_DS15211,BMG_DS057092,Loeys-Dietz syndrome 5 | RIENHOFF SYNDROME | Rienhoff syndrome
BMGC_DS15212,BMG_DS057093,8q24.3 microdeletion syndrome | 8q24.3 microdeletion syndrome (disorder) | Deletion 8q24.3 | Monosomy 8q24.3 | Verheij syndrome
BMGC_DS15213,BMG_DS057094,ALZHEIMER DISEASE 18 | Alzheimer disease 18 | Alzheimer's disease 18
BMGC_DS15214,BMG_DS057095,"MACULAR DEGENERATION, AGE-RELATED, 15 | age related macular degeneration 15"
BMGC_DS15215,BMG_DS057096,IMMUNODEFICIENCY 16 | combined immunodeficiency due to OX40 deficiency | immunodeficiency 16
BMGC_DS15216,BMG_DS057097,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 | combined oxidative phosphorylation deficiency 19
BMGC_DS15217,BMG_DS057098,Congenital disorder of glycosylation type 1w | Congenital disorder of glycosylation type 1w (disorder) | Congenital disorder of glycosylation type Iw | STT3A-CDG (congenital disorder of glycosylation)
BMGC_DS15218,BMG_DS057099,"Nagashima-type palmoplantar keratosis | Palmoplantar keratoderma Nagashima type | Palmoplantar keratoderma Nagashima type (disorder) | palmoplantar keratoderma, Nagashima type"
BMGC_DS15219,BMG_DS057100,"NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY | autosomal recessive intellectual developmental disorder 40 | microcephaly-thin corpus callosum-intellectual disability syndrome"
BMGC_DS15220,BMG_DS057101,L-ferritin deficiency | L-ferritin deficiency (disorder) | LFTD - L-ferritin deficiency
BMGC_DS15221,BMG_DS057103,FANCONI RENOTUBULAR SYNDROME 3 | Fanconi renotubular syndrome 3
BMGC_DS15222,BMG_DS057104,IMMUNODEFICIENCY 17 | combined immunodeficiency due to CD3gamma deficiency | immunodeficiency 17
BMGC_DS15223,BMG_DS057105,IMMUNODEFICIENCY 18 | immunodeficiency 18
BMGC_DS15224,BMG_DS057106,"IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT | immunodeficiency 18"
BMGC_DS15225,BMG_DS057107,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 | arrhythmogenic right ventricular dysplasia 13"
BMGC_DS15226,BMG_DS057108,IMMUNODEFICIENCY 19 | immunodeficiency 19
BMGC_DS15227,BMG_DS057109,"cholangiocarcinoma, susceptibility to"
BMGC_DS15228,BMG_DS057110,"DEAFNESS, AUTOSOMAL DOMINANT 56 | autosomal dominant nonsyndromic hearing loss 56"
BMGC_DS15229,BMG_DS057111,SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 10 with or without polydactyly
BMGC_DS15230,BMG_DS057113,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | congenital dyserythropoietic anemia type type 1B"
BMGC_DS15231,BMG_DS057114,"NEUROPATHY, HEREDITARY SENSORY, TYPE IF | hereditary sensory neuropathy type 1F | neuropathy, hereditary sensory, type 1F"
BMGC_DS15232,BMG_DS057115,SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 11 with or without polydactyly
BMGC_DS15233,BMG_DS057116,JOUBERT SYNDROME 21 | Joubert syndrome 21
BMGC_DS15234,BMG_DS057117,macrocephaly-developmental delay syndrome
BMGC_DS15235,BMG_DS057118,WARBURG MICRO SYNDROME 4 | Warburg micro syndrome 4
BMGC_DS15236,BMG_DS057119,JOUBERT SYNDROME 22 | Joubert syndrome 22
BMGC_DS15237,BMG_DS057120,CHROMOSOME 5q12 DELETION SYNDROME | chromosome 5q12 deletion syndrome
BMGC_DS15238,BMG_DS057121,LZTR1-related schwannomatosis | SCHWANNOMATOSIS 2
BMGC_DS15239,BMG_DS057122,MYOPATHY WITH EXTRAPYRAMIDAL SIGNS | myopathy with extrapyramidal signs | proximal myopathy with extrapyramidal signs
BMGC_DS15240,BMG_DS057123,DOWLING-DEGOS DISEASE 3 | dowling-degos disease 3
BMGC_DS15241,BMG_DS057124,"SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 64"
BMGC_DS15242,BMG_DS057125,"SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 61"
BMGC_DS15243,BMG_DS057126,"SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 63"
BMGC_DS15244,BMG_DS057127,DOWLING-DEGOS DISEASE 4 | Dowling-Degos disease 4
BMGC_DS15245,BMG_DS057128,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 6 | familial temporal lobe epilepsy 6"
BMGC_DS15246,BMG_DS057129,MORBID OBESITY AND SPERMATOGENIC FAILURE | obesity due to CEP19 deficiency
BMGC_DS15247,BMG_DS057130,"POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS | hereditary sclerosing poikiloderma with tendon and pulmonary involvement"
BMGC_DS15248,BMG_DS057131,"Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder) | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency | Autosomal recessive spinocerebellar ataxia type 15 | SCAR15 - autosomal recessive spinocerebellar ataxia type 15 | Salih ataxia | autosomal recessive spinocerebellar ataxia 15"
BMGC_DS15249,BMG_DS057132,AURICULOCONDYLAR SYNDROME 3 | auriculocondylar syndrome 3
BMGC_DS15250,BMG_DS057133,IMMUNODEFICIENCY 20 | autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | immunodeficiency 20
BMGC_DS15251,BMG_DS057134,SACRAL AGENESIS WITH VERTEBRAL ANOMALIES | sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
BMGC_DS15252,BMG_DS057135,ALZHEIMER DISEASE 19 | Alzheimer disease 19 | Alzheimer's disease 19
BMGC_DS15253,BMG_DS057136,BONE MARROW FAILURE SYNDROME 2 | pancytopenia-developmental delay syndrome
BMGC_DS15254,BMG_DS057137,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | hyperphosphatasia with impaired intellectual development syndrome 4 | hyperphosphatasia with intellectual disability syndrome 4
BMGC_DS15255,BMG_DS057138,RENAL HYPODYSPLASIA/APLASIA 2 | renal hypodysplasia/aplasia 2
BMGC_DS15256,BMG_DS057139,"BBSOAS - Bosch Boonstra Schaaf optic atrophy syndrome | Bosch Boonstra Schaaf optic atrophy syndrome | Bosch-Boonstra-Schaaf optic atrophy syndrome | Optic atrophy, intellectual disability syndrome | Optic atrophy, intellectual disability syndrome (disorder)"
BMGC_DS15257,BMG_DS057141,PREMATURE OVARIAN FAILURE 8 | premature ovarian failure 8 | primary ovarian insufficiency 8
BMGC_DS15258,BMG_DS057142,PREMATURE OVARIAN FAILURE 9 | premature ovarian failure 9 | primary ovarian insufficiency 9
BMGC_DS15259,BMG_DS057143,RETINITIS PIGMENTOSA 68 | retinitis pigmentosa 68
BMGC_DS15260,BMG_DS057144,NEMALINE MYOPATHY 9 | nemaline myopathy 9
BMGC_DS15261,BMG_DS057145,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE | focal or diffuse nonepidermolytic palmoplantar keratoderma | palmoplantar keratoderma, nonepidermolytic, focal or diffuse"
BMGC_DS15262,BMG_DS057146,"developmental and epileptic encephalopathy, 19"
BMGC_DS15263,BMG_DS057147,ATRIAL STANDSTILL 2 | atrial standstill 2
BMGC_DS15264,BMG_DS057148,"ECULIZUMAB, POOR RESPONSE TO"
BMGC_DS15265,BMG_DS057149,MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA | Moyamoya disease with early-onset achalasia
BMGC_DS15266,BMG_DS057150,"CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO | hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"
BMGC_DS15267,BMG_DS057151,"POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE | bilateral perisylvian polymicrogyria | polymicrogyria, bilateral perisylvian, autosomal recessive"
BMGC_DS15268,BMG_DS057152,intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
BMGC_DS15269,BMG_DS057153,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 | complex cortical dysplasia with other brain malformations 5"
BMGC_DS15270,BMG_DS057154,Low frequency sensorineural hearing loss | Low frequency sensorineural hearing loss (disorder) | Low tone sensorineural hearing loss
BMGC_DS15271,BMG_DS057168,"Mycoplasma pneumoniae Infection | Mycoplasma pneumoniae pneumonia | Pneumonia, Mycoplasma"
BMGC_DS15272,BMG_DS057182,Acute bacterial inflammation of external ear | Acute bacterial inflammation of external ear (disorder) | Acute bacterial otitis externa | Acute bacterial otitis externa (disorder) | Acute diffuse otitis externa | Acute swimmer's ear | Acute swimmer's ear (disorder) | Acute swimmers' ear | Beach ear | Tank ear | beach ear
BMGC_DS15273,BMG_DS057187,"MECKEL SYNDROME, TYPE 8 | Meckel syndrome, type 8"
BMGC_DS15274,BMG_DS057188,"HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO"
BMGC_DS15275,BMG_DS057190,"Diabetes Mellitus, Ketosis-Prone | Diabetes Mellitus, Type 1 | diabetes mellitus, ketosis-prone"
BMGC_DS15276,BMG_DS057191,"pulmonary disease, chronic obstructive, susceptibility to"
BMGC_DS15277,BMG_DS057201,Dexamethasone-sensitive hypertension | Familial hyperaldosteronism type 1 | Familial hyperaldosteronism type 1 (disorder) | Familial hyperaldosteronism type I | GRA - glucocorticoid-remediable aldosteronism | Glucocorticoid-remediable aldosteronism | Glucocorticoid-sensitive hypertension | Glucocorticoid-suppressible hyperaldosteronism | glucocorticoid-remediable aldosteronism
BMGC_DS15278,BMG_DS057208,Familial hyperaldosteronism type 3 | Familial hyperaldosteronism type 3 (disorder) | familial hyperaldosteronism type III
BMGC_DS15279,BMG_DS057238,Bartter syndrome type 4 | Bartter syndrome type 4 (disorder) | Bartter's syndrome type 4
BMGC_DS15280,BMG_DS057244,phakomatosis cesioflammea
BMGC_DS15281,BMG_DS057317,Cerebrofacial arteriovenous metameric syndrome | Cerebrofacial arteriovenous metameric syndrome (disorder) | cerebrofacial arteriovenous metameric syndrome
BMGC_DS15282,BMG_DS057323,phakomatosis cesiomarmorata
BMGC_DS15283,BMG_DS057422,infiltrating nipple syringomatous adenoma
BMGC_DS15284,BMG_DS057442,DICER1-related tumor predisposition
BMGC_DS15285,BMG_DS057455,Familial berry aneurysm | Familial cerebral saccular aneurysm | Familial cerebral saccular aneurysm (disorder) | Familial intracranial saccular aneurysm | intracranial berry aneurysm
BMGC_DS15286,BMG_DS057468,diffuse lymphatic malformation
BMGC_DS15287,BMG_DS057553,rete ovarii adenocarcinoma
BMGC_DS15288,BMG_DS057557,pseudomyogenic hemangioendothelioma
BMGC_DS15289,BMG_DS057562,Beta plus thalassaemia | Beta plus thalassemia | Beta plus thalassemia (disorder) | beta plus thalassaemia | beta plus thalassemia
BMGC_DS15290,BMG_DS057566,Acute Mesenteric Arterial Embolus | Mesenteric Ischemia
BMGC_DS15291,BMG_DS057567,Mesenteric Ischemia | Occlusive Mesenteric Arterial Ischemia
BMGC_DS15292,BMG_DS057568,Mesenteric Ischemia | Nonocclusive Mesenteric Ischemia
BMGC_DS15293,BMG_DS057569,Acute Mesenteric Arterial Thrombosis | Mesenteric Ischemia
BMGC_DS15294,BMG_DS057571,Microcephaly | Severe Congenital Microcephaly
BMGC_DS15295,BMG_DS057578,Duodenitis | Erosive Duodenitis
BMGC_DS15296,BMG_DS057580,"Neonatal Alloimmune Thrombocytopenia | Thrombocytopenia, Neonatal Alloimmune"
BMGC_DS15297,BMG_DS057584,Lipodystrophy associated with Human immunodeficiency virus infection | Lipodystrophy due to HIV and antiretroviral therapy | Lipodystrophy due to Human immunodeficiency virus infection and antiretroviral therapy | Lipodystrophy due to Human immunodeficiency virus infection and antiretroviral therapy (disorder)
BMGC_DS15298,BMG_DS057586,linear nevus sebaceous syndrome
BMGC_DS15299,BMG_DS057595,"Limbic encephalitis, neuromyotonia, hyperhidrosis, polyneuropathy syndrome | Morvan fibrillary chorea | Morvan syndrome | Morvan syndrome (disorder)"
BMGC_DS15300,BMG_DS057597,Hyperferritinemia | isolated hyperferritinemia
BMGC_DS15301,BMG_DS057607,fetal and neonatal alloimmune thrombocytopenia
BMGC_DS15302,BMG_DS057716,Recurrent candidiasis of vagina | Recurrent candidiasis of vagina (disorder)
BMGC_DS15303,BMG_DS057727,CPFE - combined pulmonary fibrosis and emphysema | Combined pulmonary fibrosis and emphysema syndrome | Pulmonary emphysema co-occurrent with fibrosis of lung | Pulmonary emphysema co-occurrent with fibrosis of lung (disorder) | combined pulmonary fibrosis-emphysema syndrome
BMGC_DS15304,BMG_DS057831,Dermatophagoides pteronyssinus Allergy | Dust Mite Allergy
BMGC_DS15305,BMG_DS057850,second branchial cleft anomaly
BMGC_DS15306,BMG_DS057861,Therapeutic opioid induced constipation | Therapeutic opioid induced constipation (disorder)
BMGC_DS15307,BMG_DS057873,Intestinal haemorrhage due to angiodysplasia of intestine | Intestinal hemorrhage due to angiodysplasia of intestine | Intestinal hemorrhage due to angiodysplasia of intestine (disorder)
BMGC_DS15308,BMG_DS057934,Familial hyperalphalipoproteinaemia | Familial hyperalphalipoproteinemia | Familial hyperalphalipoproteinemia (disorder) | cholesterol-ester transfer protein deficiency
BMGC_DS15309,BMG_DS057996,Complex dyslipidemia | Complex dyslipidemia (disorder)
BMGC_DS15310,BMG_DS058001,Dermatitis | Inflammatory dermatosis | Inflammatory dermatosis (disorder) | dermatitis
BMGC_DS15311,BMG_DS058022,Dermatophagoides farinae Allergy | Dust Mite Allergy
BMGC_DS15312,BMG_DS058038,"Neutrophil Chemotactic Response, Abnormal"
BMGC_DS15313,BMG_DS058041,"migraine with or without aura, susceptibility to, 1"
BMGC_DS15314,BMG_DS058042,Postaxial polydactyly type A | Postaxial polydactyly type A (disorder) | postaxial polydactyly type A
BMGC_DS15315,BMG_DS058045,"ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | ectodermal dysplasia 10B | ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive"
BMGC_DS15316,BMG_DS058047,"bifid nose, autosomal recessive"
BMGC_DS15317,BMG_DS058048,Cyst of kidney | Cyst of kidney (disorder) | Renal cyst | cystic kidney disease
BMGC_DS15318,BMG_DS058049,"lipodystrophy, partial, acquired, susceptibility to"
BMGC_DS15319,BMG_DS058050,HA - Hyperactivity | Hyperactive behavior | Hyperactive behavior (finding) | Hyperactive behaviour | Hyperkinesia | Hyperkinesis | Increased purposeful goal-directed activity
BMGC_DS15320,BMG_DS058052,VLCAD - Very long chain acyl-CoA dehydrogenase deficiency | Very long chain acyl-CoA dehydrogenase deficiency | Very long chain acyl-coenzyme A dehydrogenase deficiency | Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | very long chain acyl-CoA dehydrogenase deficiency
BMGC_DS15321,BMG_DS058053,"Keratosis Follicularis Spinulosa Decalvans, X-Linked | keratosis follicularis spinulosa decalvans, X-linked"
BMGC_DS15322,BMG_DS058054,osteoarthritis susceptibility 2
BMGC_DS15323,BMG_DS058055,Cornea globular | Keratoconus | Keratoglobus | Keratoglobus (disorder)
BMGC_DS15324,BMG_DS058058,"Hemophagocytic Syndrome | Lymphohistiocytosis, Hemophagocytic | hemophagocytic syndrome"
BMGC_DS15325,BMG_DS058062,"HYDROCEPHALUS, CONGENITAL, 1 | hydrocephalus, nonsyndromic, autosomal recessive 1"
BMGC_DS15326,BMG_DS058063,"Dandy-Walker Syndrome | Dandy-Walker Syndrome, Familial"
BMGC_DS15327,BMG_DS058065,AG - Atrophic gastritis | Atrophic gastritis | Atrophic gastritis (disorder) | Autoimmune gastritis | CAG - Chronic atrophic gastritis | Chronic atrophic gastritis | Gastric atrophy | autoimmune gastritis
BMGC_DS15328,BMG_DS058067,Job Syndrome | hyper-IgE syndrome
BMGC_DS15329,BMG_DS058068,Adult Rickets | Osteomalacia
BMGC_DS15330,BMG_DS058070,"POLYARTERITIS NODOSA, CHILDHOOD-ONSET | vasculitis due to ADA2 deficiency"
BMGC_DS15331,BMG_DS058071,"PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT | pulmonary venoocclusive disease 1"
BMGC_DS15332,BMG_DS058074,Infection by larvae of Trichinella spiralis | Infection caused by larvae of Trichinella spiralis | Infection caused by larvae of Trichinella spiralis (disorder) | Trichinella spiralis infectious disease | Trichinelliasis caused by Trichinella spiralis | Trichinellosis caused by Trichinella spiralis | Trichiniasis caused by Trichinella spiralis | Trichinosis caused by Trichinella spiralis
BMGC_DS15333,BMG_DS058079,optic nerve disorder
BMGC_DS15334,BMG_DS058080,WILMS TUMOR 2 | Wilms tumor 2
BMGC_DS15335,BMG_DS058082,osteoarthritis susceptibility 1
BMGC_DS15336,BMG_DS058085,Aortic Valve Disease 1 | Bicuspid Aortic Valve Disease | aortic valve disease 1 | bicuspid aortic valve disease
BMGC_DS15337,BMG_DS058087,Enteritis caused by Yersinia enterocolitica | Enteritis caused by Yersinia enterocolitica (disorder) | Enteritis due to Yersinia enterocolitica | Infection by Yersinia enterocolitica | Infection caused by Yersinia enterocolitica | Infection caused by Yersinia enterocolitica (disorder) | Intestinal infections due to Yersinia enterocolitica
BMGC_DS15338,BMG_DS058091,"CATARACT 32, MULTIPLE TYPES | cataract 32 multiple types"
BMGC_DS15339,BMG_DS058092,"DEAFNESS, AUTOSOMAL DOMINANT 27 | autosomal dominant nonsyndromic hearing loss 27"
BMGC_DS15340,BMG_DS058093,"DEAFNESS, AUTOSOMAL DOMINANT 33 | autosomal dominant nonsyndromic hearing loss 33"
BMGC_DS15341,BMG_DS058094,"MYOCLONIC EPILEPSY, JUVENILE, 2 | idiopathic generalized epilepsy 7 | myoclonic epilepsy, juvenile, 2"
BMGC_DS15342,BMG_DS058095,"CONE DYSTROPHY 5, X-LINKED | blue cone monochromacy | cone dystrophy 5, X-linked"
BMGC_DS15343,BMG_DS058096,Deutan defect | Deutan defect (disorder) | Deuteranomaly | Deuteranopia
BMGC_DS15344,BMG_DS058097,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41 | intellectual disability, X-linked 41 | non-syndromic X-linked intellectual disability 41"
BMGC_DS15345,BMG_DS058098,"GLAUCOMA 1, OPEN ANGLE, B"
BMGC_DS15346,BMG_DS058100,POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | polycystic kidney disease 3 | polycystic kidney disease 3 with or without polycystic liver disease
BMGC_DS15347,BMG_DS058101,"RETINAL DYSPLASIA, PRIMARY"
BMGC_DS15348,BMG_DS058102,Protan defect | Protan defect (disorder) | Protanomaly | Protanopia
BMGC_DS15349,BMG_DS058104,RETINITIS PIGMENTOSA 24 | retinitis pigmentosa 24
BMGC_DS15350,BMG_DS058105,SPINOCEREBELLAR ATAXIA 9 | cerebellar ataxia type 9
BMGC_DS15351,BMG_DS058106,HERMANSKY-PUDLAK SYNDROME 3 | Hermansky-Pudlak syndrome 3
BMGC_DS15352,BMG_DS058107,"PULMONARY HYPERTENSION, PRIMARY, 2 | pulmonary hypertension, primary, 2"
BMGC_DS15353,BMG_DS058108,HERMANSKY-PUDLAK SYNDROME 5 | Hermansky-Pudlak syndrome 5
BMGC_DS15354,BMG_DS058109,HERMANSKY-PUDLAK SYNDROME 6 | Hermansky-Pudlak syndrome 6
BMGC_DS15355,BMG_DS058110,"MACULAR DYSTROPHY, RETINAL, 3 | macular dystrophy, retinal, 3 | retinal macular dystrophy 3"
BMGC_DS15356,BMG_DS058112,Congenital Hyperinsulinism | familial hyperinsulinism
BMGC_DS15357,BMG_DS058113,Cacosmia | Olfaction Disorders
BMGC_DS15358,BMG_DS058114,HERMANSKY-PUDLAK SYNDROME 8 | Hermansky-Pudlak syndrome 8
BMGC_DS15359,BMG_DS058116,"DEAFNESS, AUTOSOMAL DOMINANT 54 | autosomal dominant nonsyndromic hearing loss 54"
BMGC_DS15360,BMG_DS058117,"DEAFNESS, AUTOSOMAL RECESSIVE 45 | autosomal recessive nonsyndromic hearing loss 45"
BMGC_DS15361,BMG_DS058118,SPINOCEREBELLAR ATAXIA 35 | spinocerebellar ataxia type 35
BMGC_DS15362,BMG_DS058120,"ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT | ectodermal dysplasia 10A | ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant"
BMGC_DS15363,BMG_DS058121,"DEAFNESS, Y-LINKED 1 | Y-linked deafness 1 | hearing loss, Y-linked 1"
BMGC_DS15364,BMG_DS058122,"Charcot-Marie-Tooth disease type 2I | Charcot-Marie-Tooth disease, Type 2I"
BMGC_DS15365,BMG_DS058123,SMITH-MCCORT DYSPLASIA 1 | Smith-McCort dysplasia 1
BMGC_DS15366,BMG_DS058124,"Deafness, X-Linked 3 | hearing loss, X-linked 3"
BMGC_DS15367,BMG_DS058125,Early onset torsion dystonia
BMGC_DS15368,BMG_DS058126,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 | autosomal recessive congenital ichthyosis 2"
BMGC_DS15369,BMG_DS058128,"Autosomal dominant vitreoretinochoroidopathy | Autosomal dominant vitreoretinochoroidopathy (disorder) | Autosomal dominant vitreoretinochoroidopathy with nanophthalmos | Vitreoretinochoroidopathy with microcornea, glaucoma and cataract | autosomal dominant vitreoretinochoroidopathy"
BMGC_DS15370,BMG_DS058129,Frontotemporal Dementia With Motor Neuron Disease | frontotemporal dementia with motor neuron disease
BMGC_DS15371,BMG_DS058130,Fibronectin glomerulopathy | Fibronectin glomerulopathy (disorder) | Glomerulopathy with fibronectin deposits | fibronectin glomerulopathy
BMGC_DS15372,BMG_DS058131,"multiple sclerosis, susceptibility to 1"
BMGC_DS15373,BMG_DS058133,"DEAFNESS, AUTOSOMAL DOMINANT 50 | autosomal dominant nonsyndromic hearing loss 50"
BMGC_DS15374,BMG_DS058134,"CATARACT 17, MULTIPLE TYPES | cataract 17 multiple types"
BMGC_DS15375,BMG_DS058135,"BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | autosomal recessive bestrophinopathy"
BMGC_DS15376,BMG_DS058136,APOLIPOPROTEIN A-II DEFICIENCY
BMGC_DS15377,BMG_DS058137,ACTN3 DEFICIENCY
BMGC_DS15378,BMG_DS058138,"SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT | hereditary spastic paraplegia 41"
BMGC_DS15379,BMG_DS058139,"SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 45"
BMGC_DS15380,BMG_DS058140,"DEAFNESS, AUTOSOMAL DOMINANT 58 | autosomal dominant nonsyndromic hearing loss 58"
BMGC_DS15381,BMG_DS058141,"MYOPIA 17, AUTOSOMAL DOMINANT | myopia 17, autosomal dominant"
BMGC_DS15382,BMG_DS058142,SECKEL SYNDROME 4 | Seckel syndrome 4
BMGC_DS15383,BMG_DS058143,"Hirschsprung disease, susceptibility to, 1"
BMGC_DS15384,BMG_DS058144,AICARDI-GOUTIERES SYNDROME 7 | Aicardi-Goutieres syndrome 7
BMGC_DS15385,BMG_DS058145,"neuronopathy, distal hereditary motor, type 2D"
BMGC_DS15386,BMG_DS058146,"ABetaA21G amyloidosis | APP-related cerebral amyloid angiopathy | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT"
BMGC_DS15387,BMG_DS058147,"ABeta amyloidosis, Italian type | APP-related cerebral amyloid angiopathy | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT"
BMGC_DS15388,BMG_DS058148,"ABeta amyloidosis, Iowa type | APP-related cerebral amyloid angiopathy | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT"
BMGC_DS15389,BMG_DS058149,"DEAFNESS, AUTOSOMAL RECESSIVE 83 | autosomal recessive nonsyndromic hearing loss 83"
BMGC_DS15390,BMG_DS058151,"Myopathy, familial idiopathic inflammatory | familial idiopathic inflammatory myopathy"
BMGC_DS15391,BMG_DS058152,"DEAFNESS, AUTOSOMAL RECESSIVE 96 | autosomal recessive nonsyndromic hearing loss 96"
BMGC_DS15392,BMG_DS058153,"GLAUCOMA 1, OPEN ANGLE, P | glaucoma 1, open angle, P"
BMGC_DS15393,BMG_DS058154,OTOSCLEROSIS 10 | otosclerosis 10
BMGC_DS15394,BMG_DS058155,"DEAFNESS, AUTOSOMAL RECESSIVE 93 | autosomal recessive nonsyndromic hearing loss 93"
BMGC_DS15395,BMG_DS058156,peroxisome biogenesis disorder 7A (Zellweger)
BMGC_DS15396,BMG_DS058158,oculocutaneous albinism type 5
BMGC_DS15397,BMG_DS058159,"CATARACT 5, MULTIPLE TYPES"
BMGC_DS15398,BMG_DS058160,autoimmune uveitis
BMGC_DS15399,BMG_DS058161,monogenic diabetes
BMGC_DS15400,BMG_DS058162,"Hemorrhagic Necrotic Pancreatitis | Pancreatitis, Acute Necrotizing | acute necrotizing pancreatitis"
BMGC_DS15401,BMG_DS058163,Hyperglycemic Hyperosmolar Nonketotic Coma | Hyperosmolar Hyperglycemic State
BMGC_DS15402,BMG_DS058166,"Glycogen storage disease due to acid maltase deficiency, infantile onset | Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder) | Glycogen storage disease type II infantile onset | Glycogenosis due to acid maltase deficiency, infantile onset | Glycogenosis type II, infantile onset | Pompe disease, infantile onset | glycogen storage disease due to acid maltase deficiency, infantile onset"
BMGC_DS15403,BMG_DS058167,Cryptococcosis | Cryptococcus gattii Infection
BMGC_DS15404,BMG_DS058169,Non-Radiographic Axial Spondyloarthritis
BMGC_DS15405,BMG_DS058170,BARDET-BIEDL SYNDROME 16 | Bardet-Biedl syndrome 16
BMGC_DS15406,BMG_DS058171,BARDET-BIEDL SYNDROME 19 | Bardet-Biedl syndrome 19
BMGC_DS15407,BMG_DS058172,SPINOCEREBELLAR ATAXIA 37 | spinocerebellar ataxia type 37
BMGC_DS15408,BMG_DS058174,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 100 | intellectual disability, X-linked 100 | non-syndromic X-linked intellectual disability 100"
BMGC_DS15409,BMG_DS058175,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 101 | intellectual disability, X-linked 101 | non-syndromic X-linked intellectual disability 101"
BMGC_DS15410,BMG_DS058176,rheumatoid factor-negative juvenile idiopathic arthritis
BMGC_DS15411,BMG_DS058178,NEPHRONOPHTHISIS 18 | nephronophthisis 18
BMGC_DS15412,BMG_DS058180,autoinflammatory syndrome
BMGC_DS15413,BMG_DS058182,Wilms tumor 6
BMGC_DS15414,BMG_DS058183,"neural tube defects, susceptibility to"
BMGC_DS15415,BMG_DS058184,SECKEL SYNDROME 8 | Seckel syndrome 8
BMGC_DS15416,BMG_DS058185,CHROMOSOME Xq26.3 DUPLICATION SYNDROME | X-linked acrogigantism due to Xq26 microduplication
BMGC_DS15417,BMG_DS058187,"Arthritis, Infectious | Arthritis, Suppurative"
BMGC_DS15418,BMG_DS058188,PANCREATIC AGENESIS 1 | pancreatic agenesis 1
BMGC_DS15419,BMG_DS058189,BARDET-BIEDL SYNDROME 5 | Bardet-Biedl syndrome 5
BMGC_DS15420,BMG_DS058190,"DEAFNESS, AUTOSOMAL DOMINANT 65 | autosomal dominant nonsyndromic hearing loss 65"
BMGC_DS15421,BMG_DS058191,"DEAFNESS, AUTOSOMAL RECESSIVE 101 | autosomal recessive nonsyndromic hearing loss 101"
BMGC_DS15422,BMG_DS058192,"DEAFNESS, AUTOSOMAL RECESSIVE 102 | autosomal recessive nonsyndromic hearing loss 102"
BMGC_DS15423,BMG_DS058193,familial colorectal cancer type X
BMGC_DS15424,BMG_DS058196,Smouldering systemic mastocytosis
BMGC_DS15425,BMG_DS058205,DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD | disabling pansclerotic morphea of childhood
BMGC_DS15426,BMG_DS058215,CIC-rearranged sarcoma
BMGC_DS15427,BMG_DS058219,short stature due to primary acid-labile subunit deficiency
BMGC_DS15428,BMG_DS058220,"AMELOGENESIS IMPERFECTA, TYPE IA | amelogenesis imperfecta type 1A"
BMGC_DS15429,BMG_DS058221,CATARACT 42 | cataract 42
BMGC_DS15430,BMG_DS058222,"MYOPATHY, DISTAL, INFANTILE-ONSET | infantile-onset distal myopathy | myopathy, distal, infantile-onset"
BMGC_DS15431,BMG_DS058223,"MYOPATHY, TUBULAR AGGREGATE, 1 | myopathy, tubular aggregate, 1 | tubular aggregate myopathy 1"
BMGC_DS15432,BMG_DS058224,Behavioral variant of frontotemporal dementia | Behavioral variant of frontotemporal dementia (disorder) | Behavioural variant of frontotemporal dementia | behavioral variant of frontotemporal dementia
BMGC_DS15433,BMG_DS058225,WHITE SPONGE NEVUS 1 | white sponge nevus 1
BMGC_DS15434,BMG_DS058227,IMMUNODEFICIENCY 27A | immunodeficiency 27A
BMGC_DS15435,BMG_DS058228,"COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE | coloboma, ocular, autosomal recessive"
BMGC_DS15436,BMG_DS058230,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 | Hennekam lymphangiectasia-lymphedema syndrome 1
BMGC_DS15437,BMG_DS058231,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID | neuropathy, hereditary sensory and autonomic, type IId"
BMGC_DS15438,BMG_DS058234,DESBUQUOIS DYSPLASIA 1 | Desbuquois dysplasia 1
BMGC_DS15439,BMG_DS058235,Neonatal pulmonary hypertension
BMGC_DS15440,BMG_DS058238,"TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE | tetraamelia syndrome 1"
BMGC_DS15441,BMG_DS058240,Carbohydrate deficient glycoprotein syndrome type Iy | Congenital disorder of glycosylation type 1y | Congenital disorder of glycosylation type 1y (disorder) | Congenital disorder of glycosylation type Iy | SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation | SSR4-congenital disorder of glycosylation | Signal sequence receptor subunit 4 congenital disorder of glycosylation
BMGC_DS15442,BMG_DS058243,"pituitary adenoma, growth hormone-secreting, 2"
BMGC_DS15443,BMG_DS058245,"ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE | alacrima, congenital, autosomal recessive"
BMGC_DS15444,BMG_DS058246,MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
BMGC_DS15445,BMG_DS058247,ataxia-telangiectasia-like disorder 1
BMGC_DS15446,BMG_DS058255,"epilepsy, idiopathic generalized, susceptibility to, 13"
BMGC_DS15447,BMG_DS058256,"atrial fibrillation, familial, 17"
BMGC_DS15448,BMG_DS058258,Progressive pulmonary failure
BMGC_DS15449,BMG_DS058261,"POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL | bilateral parasagittal parieto-occipital polymicrogyria"
BMGC_DS15450,BMG_DS058262,"atrial fibrillation, familial, 16"
BMGC_DS15451,BMG_DS058263,intellectual disability-severe speech delay-mild dysmorphism syndrome
BMGC_DS15452,BMG_DS058265,IMMUNODEFICIENCY 28 | immunodeficiency 28
BMGC_DS15453,BMG_DS058266,IMMUNODEFICIENCY 29 | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | immunodeficiency 29
BMGC_DS15454,BMG_DS058267,IMMUNODEFICIENCY 30 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | immunodeficiency 30
BMGC_DS15455,BMG_DS058268,IMMUNODEFICIENCY 31A | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | immunodeficiency 31A
BMGC_DS15456,BMG_DS058274,IMMUNODEFICIENCY 22 | immunodeficiency 22 | severe combined immunodeficiency due to LCK deficiency
BMGC_DS15457,BMG_DS058275,"MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY | diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome"
BMGC_DS15458,BMG_DS058276,"ATRIAL FIBRILLATION, FAMILIAL, 15 | atrial fibrillation, familial, 15"
BMGC_DS15459,BMG_DS058277,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 | complex cortical dysplasia with other brain malformations 6"
BMGC_DS15460,BMG_DS058278,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1 | female infertility due to zona pellucida defect
BMGC_DS15461,BMG_DS058279,DESBUQUOIS DYSPLASIA 2 | Desbuquois dysplasia 2
BMGC_DS15462,BMG_DS058280,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 | congenital heart defects, multiple types, 4"
BMGC_DS15463,BMG_DS058281,RETINITIS PIGMENTOSA 69 | retinitis pigmentosa 69
BMGC_DS15464,BMG_DS058283,WHITE SPONGE NEVUS 2 | white sponge nevus 2
BMGC_DS15465,BMG_DS058284,"ROTHMUND-THOMSON SYNDROME, TYPE 3 | Rothmund-Thomson syndrome, type 3"
BMGC_DS15466,BMG_DS058285,"NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES | intellectual disability, autosomal recessive 42"
BMGC_DS15467,BMG_DS058286,"PONTOCEREBELLAR HYPOPLASIA, TYPE 9 | pontocerebellar hypoplasia type 9"
BMGC_DS15468,BMG_DS058287,ABDOMINAL OBESITY-METABOLIC SYNDROME 3 | abdominal obesity-metabolic syndrome 3
BMGC_DS15469,BMG_DS058288,IMMUNODEFICIENCY 23 | immunodeficiency 23
BMGC_DS15470,BMG_DS058289,"intellectual disability, autosomal recessive 43"
BMGC_DS15471,BMG_DS058290,"CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis"
BMGC_DS15472,BMG_DS058291,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 | mitochondrial complex III deficiency nuclear type 7"
BMGC_DS15473,BMG_DS058292,"VULTO-VAN SILFHOUT-DE VRIES SYNDROME | Vulto-van Silfout-de Vries syndrome | intellectual disability, autosomal dominant 24"
BMGC_DS15474,BMG_DS058293,"AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | Xia Gibbs syndrome"
BMGC_DS15475,BMG_DS058294,"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 | pigmented nodular adrenocortical disease, primary, 4 | primary pigmented nodular adrenocortical disease 4"
BMGC_DS15476,BMG_DS058295,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 | developmental and epileptic encephalopathy 21 | developmental and epileptic encephalopathy, 21"
BMGC_DS15477,BMG_DS058296,autism spectrum disorder due to AUTS2 deficiency
BMGC_DS15478,BMG_DS058298,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 | mitochondrial complex III deficiency nuclear type 8"
BMGC_DS15479,BMG_DS058299,SPERMATOGENIC FAILURE 13 | spermatogenic failure 13
BMGC_DS15480,BMG_DS058300,SPERMATOGENIC FAILURE 14 | spermatogenic failure 14
BMGC_DS15481,BMG_DS058301,tumor predisposition syndrome 3
BMGC_DS15482,BMG_DS058302,postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
BMGC_DS15483,BMG_DS058303,"PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | pontocerebellar hypoplasia type 2E"
BMGC_DS15484,BMG_DS058304,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 | developmental and epileptic encephalopathy 23 | developmental and epileptic encephalopathy, 23"
BMGC_DS15485,BMG_DS058305,CONE-ROD DYSTROPHY 19 | cone-rod dystrophy 19
BMGC_DS15486,BMG_DS058306,"NEPHROTIC SYNDROME, TYPE 10 | nephrotic syndrome type 10 | nephrotic syndrome, type 10"
BMGC_DS15487,BMG_DS058307,"DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE | congenital diarrhea 7 with exudative enteropathy"
BMGC_DS15488,BMG_DS058308,"COFFIN-SIRIS SYNDROME 9 | Coffin-Siris syndrome 9 | intellectual disability, autosomal dominant 27"
BMGC_DS15489,BMG_DS058309,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 | developmental and epileptic encephalopathy 24 | developmental and epileptic encephalopathy, 24"
BMGC_DS15490,BMG_DS058310,primary ciliary dyskinesia 29
BMGC_DS15491,BMG_DS058311,"ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) | Helsmoortel-van der Aa syndrome"
BMGC_DS15492,BMG_DS058312,MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME | colobomatous microphthalmia-rhizomelic dysplasia syndrome | syndromic microphthalmia 14
BMGC_DS15493,BMG_DS058313,"DNA methyltransferase 3 alpha overgrowth syndrome | DNMT3A-related overgrowth syndrome | Tall stature, intellectual disability, facial dysmorphism syndrome | Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | Tatton Brown Rahman overgrowth syndrome | Tatton Brown Rahman syndrome | Tatton-Brown-Rahman overgrowth syndrome"
BMGC_DS15494,BMG_DS058314,"MYOPATHY, TUBULAR AGGREGATE, 2 | myopathy, tubular aggregate, 2 | tubular aggregate myopathy 2"
BMGC_DS15495,BMG_DS058315,HYPOTRICHOSIS 12 | hypotrichosis 12
BMGC_DS15496,BMG_DS058316,"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 | amelogenesis imperfecta hypomaturation type 2A5"
BMGC_DS15497,BMG_DS058317,"BLEEDING DISORDER, PLATELET-TYPE, 18 | platelet-type bleeding disorder 18"
BMGC_DS15498,BMG_DS058318,"LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE | leukoencephalopathy, progressive, with ovarian failure | progressive leukoencephalopathy with ovarian failure"
BMGC_DS15499,BMG_DS058319,familial median cleft of the upper and lower lips
BMGC_DS15500,BMG_DS058320,POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY | polyglucosan body myopathy 1 with or without immunodeficiency
BMGC_DS15501,BMG_DS058321,HYPOTRICHOSIS 13 | hypotrichosis 13
BMGC_DS15502,BMG_DS058322,IMMUNODEFICIENCY 24 | immunodeficiency 24 | severe combined immunodeficiency due to CTPS1 deficiency
BMGC_DS15503,BMG_DS058323,"developmental and epileptic encephalopathy, 25"
BMGC_DS15504,BMG_DS058324,DIAMOND-BLACKFAN ANEMIA 13 | Diamond-Blackfan anemia 13
BMGC_DS15505,BMG_DS058325,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 | frontotemporal dementia and/or amyotrophic lateral sclerosis 2
BMGC_DS15506,BMG_DS058327,"CARDIOMYOPATHY, DILATED, 1NN | dilated cardiomyopathy 1NN"
BMGC_DS15507,BMG_DS058328,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | combined oxidative phosphorylation defect type 20 | combined oxidative phosphorylation deficiency 20
BMGC_DS15508,BMG_DS058329,ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 | ataxia-telangiectasia-like disorder 2 | ataxia-telangiectasia-like disorder-2
BMGC_DS15509,BMG_DS058330,RETINITIS PIGMENTOSA 70 | retinitis pigmentosa 70
BMGC_DS15510,BMG_DS058331,"EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE | Miura type epiphyseal chondrodysplasia | tall stature-scoliosis-macrodactyly of the great toes syndrome"
BMGC_DS15511,BMG_DS058332,"ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY | severe neurodegenerative syndrome with lipodystrophy"
BMGC_DS15512,BMG_DS058333,WEBB-DATTANI SYNDROME | Webb-Dattani syndrome
BMGC_DS15513,BMG_DS058334,"STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET | STING-associated vasculopathy with onset in infancy"
BMGC_DS15514,BMG_DS058335,PANCREATIC AGENESIS 2 | pancreatic agenesis 2
BMGC_DS15515,BMG_DS058336,MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 | megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
BMGC_DS15516,BMG_DS058338,MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 | megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
BMGC_DS15517,BMG_DS058339,"intellectual disability, autosomal recessive 44"
BMGC_DS15518,BMG_DS058340,"MYOPIA 24, AUTOSOMAL DOMINANT | myopia 24, autosomal dominant"
BMGC_DS15519,BMG_DS058341,"HYPERLIPOPROTEINEMIA, TYPE ID | familial GPIHBP1 deficiency | hyperlipoproteinemia, type 1D"
BMGC_DS15520,BMG_DS058342,"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 | STAT3-related early-onset multisystem autoimmune disease"
BMGC_DS15521,BMG_DS058343,ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 | ACTH-independent macronodular adrenal hyperplasia 2
BMGC_DS15522,BMG_DS058344,"MYOPATHY, CENTRONUCLEAR, 5 | centronuclear myopathy 5 | myopathy, centronuclear, 5"
BMGC_DS15523,BMG_DS058345,"Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome | Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder) | Poretti Boltshauser syndrome | ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"
BMGC_DS15524,BMG_DS058346,VESICOURETERAL REFLUX 8 | vesicoureteral reflux 8
BMGC_DS15525,BMG_DS058347,IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES | immunodeficiency 26 | severe combined immunodeficiency due to DNA-PKcs deficiency
BMGC_DS15526,BMG_DS058348,NANOPHTHALMOS 4 | nanophthalmos 4
BMGC_DS15527,BMG_DS058349,CONE-ROD DYSTROPHY 20 | cone-rod dystrophy 20
BMGC_DS15528,BMG_DS058350,IMMUNODEFICIENCY 27B | autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | immunodeficiency 27B
BMGC_DS15529,BMG_DS058351,"intellectual disability, autosomal recessive 45"
BMGC_DS15530,BMG_DS058352,"FPLD6 - familial partial lipodystrophy type 6 | LIPE-related familial partial lipodystrophy | Lipase E, hormone sensitive type-related familial partial lipodystrophy | Lipase E, hormone sensitive type-related familial partial lipodystrophy (disorder)"
BMGC_DS15531,BMG_DS058354,"breasts and/or nipples, aplasia or hypoplasia of, 2"
BMGC_DS15532,BMG_DS058355,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 | focal segmental glomerulosclerosis 7
BMGC_DS15533,BMG_DS058356,immunodeficiency 36
BMGC_DS15534,BMG_DS058358,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | Hennekam lymphangiectasia-lymphedema syndrome 2
BMGC_DS15535,BMG_DS058359,"CAGSSS - cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome | Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome | Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) | cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"
BMGC_DS15536,BMG_DS058360,autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
BMGC_DS15537,BMG_DS058361,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 | hyperphosphatasia with impaired intellectual development syndrome 5 | hyperphosphatasia with intellectual disability syndrome 5
BMGC_DS15538,BMG_DS058362,FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG | Fanconi renotubular syndrome 4 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
BMGC_DS15539,BMG_DS058363,ADAMS-OLIVER SYNDROME 5 | Adams-Oliver syndrome 5
BMGC_DS15540,BMG_DS058365,"Ectodermal dysplasia short stature syndrome | Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder) | Short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"
BMGC_DS15541,BMG_DS058366,HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 22 with or without anosmia
BMGC_DS15542,BMG_DS058367,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 | focal segmental glomerulosclerosis 8
BMGC_DS15543,BMG_DS058368,"MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 | microcephaly, short stature, and impaired glucose metabolism 1"
BMGC_DS15544,BMG_DS058371,"CILIARY DYSKINESIA, PRIMARY, 30 | primary ciliary dyskinesia 30"
BMGC_DS15545,BMG_DS058372,NEU-LAXOVA SYNDROME 2 | Neu-Laxova syndrome 2
BMGC_DS15546,BMG_DS058373,"MYASTHENIC SYNDROME, CONGENITAL, 7A, PRESYNAPTIC, AND DISTAL MOTOR NEUROPATHY, AUTOSOMAL DOMINANT | congenital myasthenic syndrome 7"
BMGC_DS15547,BMG_DS058374,"DEAFNESS, AUTOSOMAL RECESSIVE 103 | autosomal recessive nonsyndromic hearing loss 103"
BMGC_DS15548,BMG_DS058376,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 | combined oxidative phosphorylation deficiency 22
BMGC_DS15549,BMG_DS058377,periodic fever-infantile enterocolitis-autoinflammatory syndrome
BMGC_DS15550,BMG_DS058378,"MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 13, primary, autosomal recessive | primary autosomal recessive microcephaly 13"
BMGC_DS15551,BMG_DS058382,Episodic ataxia type 8 | Episodic ataxia with slurred speech | Episodic ataxia with slurred speech (disorder) | episodic ataxia type 8
BMGC_DS15552,BMG_DS058383,"developmental and epileptic encephalopathy, 26"
BMGC_DS15553,BMG_DS058384,MIRROR MOVEMENTS 3 | mirror movements 3
BMGC_DS15554,BMG_DS058385,"POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE | porokeratosis 8, disseminated superficial actinic type"
BMGC_DS15555,BMG_DS058386,"46,XY SEX REVERSAL 9 | 46,XY sex reversal 9"
BMGC_DS15556,BMG_DS058387,"INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 | inflammatory skin and bowel disease, neonatal, 2"
BMGC_DS15557,BMG_DS058388,"intellectual disability, autosomal dominant 29"
BMGC_DS15558,BMG_DS058389,retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
BMGC_DS15559,BMG_DS058390,"MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 12, primary, autosomal recessive | primary autosomal recessive microcephaly 12"
BMGC_DS15560,BMG_DS058391,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | pontocerebellar hypoplasia type 1C | pontocerebellar hypoplasia, type 1C"
BMGC_DS15561,BMG_DS058392,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | autosomal dominant intellectual developmental disorder 30 | intellectual disability, autosomal dominant 30"
BMGC_DS15562,BMG_DS058393,"SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY | congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay"
BMGC_DS15563,BMG_DS058394,"TYPE 2 DIABETES 5 | diabetes mellitus, noninsulin-dependent, 5"
BMGC_DS15564,BMG_DS058395,Limb girdle muscular dystrophy due to POMK deficiency | Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency | Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder) | limb-girdle muscular dystrophy due to POMK deficiency
BMGC_DS15565,BMG_DS058396,Ketoacidosis due to monocarboxylate transporter-1 deficiency | Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) | ketoacidosis due to monocarboxylate transporter-1 deficiency
BMGC_DS15566,BMG_DS058397,IMMUNODEFICIENCY 37 | immunodeficiency 37
BMGC_DS15567,BMG_DS058398,PALMOPLANTAR KERATODERMA AND WOOLLY HAIR | palmoplantar keratoderma and woolly hair | wooly hair-palmoplantar keratoderma syndrome
BMGC_DS15568,BMG_DS058399,autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
BMGC_DS15569,BMG_DS058401,"psoriasis 15, pustular, susceptibility to"
BMGC_DS15570,BMG_DS058402,"Retinal dystrophy, juvenile cataract, short stature syndrome | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder) | retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"
BMGC_DS15571,BMG_DS058403,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 | mitochondrial complex III deficiency nuclear type 9"
BMGC_DS15572,BMG_DS058404,PEPNS - polyendocrine polyneuropathy syndrome | Polyendocrine polyneuropathy syndrome | Polyendocrine polyneuropathy syndrome (disorder) | polyendocrine-polyneuropathy syndrome
BMGC_DS15573,BMG_DS058405,FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 | familial cold autoinflammatory syndrome 4
BMGC_DS15574,BMG_DS058406,"intellectual disability, autosomal recessive 46"
BMGC_DS15575,BMG_DS058407,CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY | atrial conduction disease
BMGC_DS15576,BMG_DS058408,"MACULAR DEGENERATION, EARLY-ONSET | macular degeneration, early-onset"
BMGC_DS15577,BMG_DS058409,IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | immunodeficiency 38
BMGC_DS15578,BMG_DS058411,Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency | Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | SCAR17 - spinocerebellar ataxia autosomal recessive type 17 | autosomal recessive spinocerebellar ataxia 17
BMGC_DS15579,BMG_DS058412,PERRAULT SYNDROME 5 | Perrault syndrome 5
BMGC_DS15580,BMG_DS058413,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 | developmental and epileptic encephalopathy 27 | developmental and epileptic encephalopathy, 27"
BMGC_DS15581,BMG_DS058414,Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leucodystrophy | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) | RARS-related autosomal recessive hypomyelinating leucodystrophy | RARS-related autosomal recessive hypomyelinating leukodystrophy | hypomyelinating leukodystrophy 9
BMGC_DS15582,BMG_DS058416,"MACULAR DYSTROPHY, VITELLIFORM, 4 | vitelliform macular dystrophy 4"
BMGC_DS15583,BMG_DS058417,"MACULAR DYSTROPHY, VITELLIFORM, 5 | vitelliform macular dystrophy 5"
BMGC_DS15584,BMG_DS058418,FAR1 deficiency | Fatty acyl-CoA reductase 1 deficiency | Fatty acyl-coenzyme A reductase 1 deficiency | Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder | fatty acyl-CoA reductase 1 deficiency
BMGC_DS15585,BMG_DS058419,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S | Charcot-Marie-Tooth disease axonal type 2S"
BMGC_DS15586,BMG_DS058420,"NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | autosomal dominant intellectual developmental disorder 31"
BMGC_DS15587,BMG_DS058421,NEMALINE MYOPATHY 10 | nemaline myopathy 10
BMGC_DS15588,BMG_DS058422,"AORTIC ANEURYSM, FAMILIAL THORACIC 9 | aortic aneurysm, familial thoracic 9"
BMGC_DS15589,BMG_DS058423,MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT | macular dystrophy with central cone involvement
BMGC_DS15590,BMG_DS058424,"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | microcephaly and chorioretinopathy 2"
BMGC_DS15591,BMG_DS058425,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 | generalized epilepsy with febrile seizures plus 9 | generalized epilepsy with febrile seizures plus, type 9"
BMGC_DS15592,BMG_DS058426,"BLEEDING DISORDER, PLATELET-TYPE, 19 | platelet-type bleeding disorder 19"
BMGC_DS15593,BMG_DS058427,"46,XX ovarian dysgenesis-short stature syndrome | OVARIAN DYSGENESIS 4 | ovarian dysgenesis 4"
BMGC_DS15594,BMG_DS058428,EPM7 - epilepsy progressive myoclonic 7 | Progressive myoclonic epilepsy due to KV3.1 deficiency | Progressive myoclonic epilepsy type 7 | Progressive myoclonic epilepsy type 7 (disorder) | Progressive myoclonus epilepsy type 7 | progressive myoclonic epilepsy type 7 | progressive myoclonus epilepsy 7
BMGC_DS15595,BMG_DS058429,RETINAL DYSTROPHY AND OBESITY | retinal dystrophy and obesity
BMGC_DS15596,BMG_DS058430,"Combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome | Combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome | Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome | Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"
BMGC_DS15597,BMG_DS058432,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 47 | autosomal recessive intellectual developmental disorder 47 | intellectual disability, autosomal recessive 47"
BMGC_DS15598,BMG_DS058433,PGBM2 - polyglucosan body myopathy type 2 | Polyglucosan body myopathy type 2 | Polyglucosan body myopathy type 2 (disorder) | polyglucosan body myopathy type 2
BMGC_DS15599,BMG_DS058434,"Progeroid features, hepatocellular carcinoma predisposition syndrome | Progeroid features, hepatocellular carcinoma predisposition syndrome (disorder) | Ruijs Aalfs syndrome | progeroid features-hepatocellular carcinoma predisposition syndrome"
BMGC_DS15600,BMG_DS058435,CAID (chronic atrial and intestinal dysrhythmia) syndrome | Chronic atrial and intestinal dysrhythmia | Chronic atrial and intestinal dysrhythmia (disorder) | chronic atrial and intestinal dysrhythmia
BMGC_DS15601,BMG_DS058437,CEREBELLOFACIODENTAL SYNDROME | cerebellar-facial-dental syndrome | cerebellofaciodental syndrome
BMGC_DS15602,BMG_DS058438,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 | autosomal recessive spinocerebellar ataxia 18"
BMGC_DS15603,BMG_DS058439,AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | amyotrophic lateral sclerosis type 22
BMGC_DS15604,BMG_DS058440,Autosomal dominant mitochondrial myopathy with exercise intolerance | Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder) | autosomal dominant mitochondrial myopathy with exercise intolerance
BMGC_DS15605,BMG_DS058441,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 | developmental and epileptic encephalopathy 28 | developmental and epileptic encephalopathy, 28"
BMGC_DS15606,BMG_DS058442,lissencephaly 6 with microcephaly
BMGC_DS15607,BMG_DS058443,THROMBOCYTOPENIA 5 | thrombocytopenia 5
BMGC_DS15608,BMG_DS058444,NEPHRONOPHTHISIS 19 | nephronophthisis 19
BMGC_DS15609,BMG_DS058445,"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 | congenital fibrosis of the extraocular muscles 5 | fibrosis of extraocular muscles, congenital, 5"
BMGC_DS15610,BMG_DS058446,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 | focal segmental glomerulosclerosis 9
BMGC_DS15611,BMG_DS058447,"AMELOGENESIS IMPERFECTA, TYPE IH | amelogenesis imperfecta type 1H"
BMGC_DS15612,BMG_DS058448,Temple syndrome | Temple syndrome (disorder) | motor developmental delay due to 14q32.2 paternally expressed gene defect
BMGC_DS15613,BMG_DS058449,"MYASTHENIC SYNDROME, CONGENITAL, 15 | congenital myasthenic syndrome 15"
BMGC_DS15614,BMG_DS058450,"MYASTHENIC SYNDROME, CONGENITAL, 14 | congenital myasthenic syndrome 14"
BMGC_DS15615,BMG_DS058451,"OSTEOGENESIS IMPERFECTA, TYPE XVI | osteogenesis imperfecta type 16"
BMGC_DS15616,BMG_DS058452,"MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES | myopathy due to calsequestrin and SERCA1 protein overload"
BMGC_DS15617,BMG_DS058453,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T | Charcot-Marie-Tooth disease axonal type 2T"
BMGC_DS15618,BMG_DS058454,COXPD24 - combined oxidative phosphorylation defect type 24 | Combined oxidative phosphorylation defect type 24 | Combined oxidative phosphorylation defect type 24 (disorder) | combined oxidative phosphorylation defect type 24
BMGC_DS15619,BMG_DS058455,LONG QT SYNDROME 14 | long QT syndrome 14
BMGC_DS15620,BMG_DS058456,LETHAL CONGENITAL CONTRACTURE SYNDROME 6 | lethal congenital contracture syndrome 6
BMGC_DS15621,BMG_DS058457,LONG QT SYNDROME 15 | long QT syndrome 15
BMGC_DS15622,BMG_DS058458,Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome | Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder) | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | Lethal foetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
BMGC_DS15623,BMG_DS058459,TENORIO SYNDROME | Tenorio syndrome
BMGC_DS15624,BMG_DS058460,"NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1 | neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1"
BMGC_DS15625,BMG_DS058461,PEELING SKIN SYNDROME 3 | peeling skin syndrome 3 | peeling skin syndrome type A
BMGC_DS15626,BMG_DS058464,"OSTEOGENESIS IMPERFECTA, MILD"
BMGC_DS15627,BMG_DS058466,Neonatal Marfan syndrome | Neonatal Marfan syndrome (disorder) | neonatal Marfan syndrome
BMGC_DS15628,BMG_DS058469,"ALPHA-THALASSEMIA, HMONG TYPE"
BMGC_DS15629,BMG_DS058470,"EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE"
BMGC_DS15630,BMG_DS058472,"exfoliation syndrome, susceptibility to"
BMGC_DS15631,BMG_DS058474,CBL (Cbl proto-oncogene) syndrome | Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder)
BMGC_DS15632,BMG_DS058475,Autosomal recessive central core disease | Autosomal recessive central core disease (disorder) | Autosomal recessive central core myopathy
BMGC_DS15633,BMG_DS058476,"ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL"
BMGC_DS15634,BMG_DS058479,"RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS"
BMGC_DS15635,BMG_DS058481,myelodysplastic syndrome with ring sideroblasts
BMGC_DS15636,BMG_DS058484,IMMUNODEFICIENCY 32B | immunodeficiency 32B
BMGC_DS15637,BMG_DS058485,Imerslund-Grasbeck syndrome type 1
BMGC_DS15638,BMG_DS058487,IMERSLUND-GRASBECK SYNDROME 2 | Imerslund-Grasbeck syndrome type 2
BMGC_DS15639,BMG_DS058488,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5"
BMGC_DS15640,BMG_DS058491,"GALACTOSEMIA III, SEVERE"
BMGC_DS15641,BMG_DS058492,mild Canavan disease
BMGC_DS15642,BMG_DS058493,"TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE | photosensitive trichothiodystrophy 3 | trichothiodystrophy 3, photosensitive"
BMGC_DS15643,BMG_DS058495,"17-alpha-hydroxylase/17,20-lyase deficiency, combined partial"
BMGC_DS15644,BMG_DS058498,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES | spondyloepimetaphyseal dysplasia with joint laxity type 1 | spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"
BMGC_DS15645,BMG_DS058501,HEINZ BODY HEMOLYTIC ANEMIA
BMGC_DS15646,BMG_DS058502,"allergic rhinitis, susceptibility to"
BMGC_DS15647,BMG_DS058520,Mitochondrial Diseases | Mitochondrial Dysfunction
BMGC_DS15648,BMG_DS058521,Generalised myoclonic seizure | Generalised onset myoclonic epileptic seizure | Generalised-onset myoclonic epileptic seizure | Generalized myoclonic seizure | Generalized onset myoclonic epileptic seizure | Generalized onset myoclonic epileptic seizure (finding) | Generalized-onset myoclonic epileptic seizure
BMGC_DS15649,BMG_DS058522,central nervous system disorder
BMGC_DS15650,BMG_DS058523,liver disorder
BMGC_DS15651,BMG_DS058525,ovarian disorder
BMGC_DS15652,BMG_DS058541,Obstructive azoospermia
BMGC_DS15653,BMG_DS058545,Congenital absence of half of thyroid | Congenital absence of half of thyroid (disorder) | Congenital hemiagenesis of thyroid | Thyroid hemiagenesis | thyroid hemiagenesis
BMGC_DS15654,BMG_DS058554,Myoclonic absence seizure | Myoclonic absence seizure (finding)
BMGC_DS15655,BMG_DS058558,acromial dimples
BMGC_DS15656,BMG_DS058566,punctate palmoplantar keratoderma
BMGC_DS15657,BMG_DS058567,"ectodermal dysplasia 4, hair/nail type"
BMGC_DS15658,BMG_DS058568,Mixed demyelinating and axonal polyneuropathy
BMGC_DS15659,BMG_DS058570,Lower limb amyotrophy
BMGC_DS15660,BMG_DS058573,Proximal spinal muscular atrophy | proximal spinal muscular atrophy
BMGC_DS15661,BMG_DS058574,Unilateral polymicrogyria | Unilateral polymicrogyria (disorder) | unilateral polymicrogyria
BMGC_DS15662,BMG_DS058579,Large vessel vasculitis | Vasculitis of large artery | Vasculitis of large artery (disorder)
BMGC_DS15663,BMG_DS058581,Congenital lactic acidosis
BMGC_DS15664,BMG_DS058582,hypertrichosis cubiti-short stature syndrome
BMGC_DS15665,BMG_DS058586,specific learning disability
BMGC_DS15666,BMG_DS058588,peripheral nervous system disorder
BMGC_DS15667,BMG_DS058589,optic choroid disorder
BMGC_DS15668,BMG_DS058621,Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome
BMGC_DS15669,BMG_DS058636,Gastric haemorrhage due to angiodysplasia of stomach | Gastric hemorrhage due to angiodysplasia of stomach | Gastric hemorrhage due to angiodysplasia of stomach (disorder)
BMGC_DS15670,BMG_DS058840,Acute Hypoxemic Respiratory Failure | Respiratory Insufficiency
BMGC_DS15671,BMG_DS058948,Acute Hypercapnic Respiratory Failure | Respiratory Insufficiency
BMGC_DS15672,BMG_DS058965,Bronchopneumonia caused by Haemophilus influenzae | Bronchopneumonia caused by Haemophilus influenzae (disorder)
BMGC_DS15673,BMG_DS059003,"3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | MEGDEL syndrome"
BMGC_DS15674,BMG_DS059148,"Cone-rod synaptic disorder, congenital nonprogressive | cone-rod synaptic disorder, congenital nonprogressive"
BMGC_DS15675,BMG_DS059341,Autosomal dominant hypocalcaemia | Autosomal dominant hypocalcemia | Autosomal dominant hypocalcemia (disorder) | Autosomal dominant hypoparathyroidism | Familial hypercalciuric hypocalcaemia | Familial hypercalciuric hypocalcemia | Familial hypocalcaemia | Familial hypocalcemia | autosomal dominant hypocalcemia
BMGC_DS15676,BMG_DS059342,beta-Mannosidosis | beta-mannosidosis
BMGC_DS15677,BMG_DS059343,Hydronephrosis Due To Pujo
BMGC_DS15678,BMG_DS059344,Chorioretinal atrophy | Chorioretinal atrophy (disorder)
BMGC_DS15679,BMG_DS059348,multiple endocrine neoplasia type 2
BMGC_DS15680,BMG_DS059349,cervical cancer
BMGC_DS15681,BMG_DS059352,(Methioninaemia) or (hypermethioninaemia) | (Methioninaemia) or (hypermethioninaemia) (disorder) | (Methioninemia) or (hypermethioninemia) | Hypermethioninaemia | Hypermethioninemia | Hypermethioninemia (disorder) | Methioninaemia | disorder of methionine catabolism | hypermethioninemia
BMGC_DS15682,BMG_DS059353,"Juvenile chronic arthritis, polyarticular seropositive | Juvenile idiopathic arthritis, polyarthritis, rheumatoid factor positive | Juvenile rheumatoid arthritis, seropositive | Juvenile seropositive arthritis | Juvenile seropositive polyarthritis | Juvenile seropositive polyarthritis (disorder)"
BMGC_DS15683,BMG_DS059354,Sphincter of Oddi Dysfunction | Sphincter of Oddi Dyskinesia
BMGC_DS15684,BMG_DS059355,SMARCB1-related schwannomatosis
BMGC_DS15685,BMG_DS059357,CATARACT 40 | cataract 40
BMGC_DS15686,BMG_DS059359,cone-rod dystrophy 21
BMGC_DS15687,BMG_DS059360,"alopecia, androgenetic, 1"
BMGC_DS15688,BMG_DS059361,Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency | Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) | PXE (pseudoxanthoma elasticum) like syndrome | Pseudoxanthoma elasticum-like syndrome
BMGC_DS15689,BMG_DS059365,SMARCB1-deficient renal medullary carcinoma | kidney medullary carcinoma
BMGC_DS15690,BMG_DS059372,glucocorticoid deficiency 1
BMGC_DS15691,BMG_DS059373,glucocorticoid deficiency 2
BMGC_DS15692,BMG_DS059378,Ectopic neurohypophysis | Pituitary stalk interruption syndrome | Pituitary stalk interruption syndrome (disorder) | pituitary stalk interruption syndrome
BMGC_DS15693,BMG_DS059381,inherited obesity
BMGC_DS15694,BMG_DS059382,macrocystic neurilemmoma | microcystic/reticular schwannoma
BMGC_DS15695,BMG_DS059384,Familial glucocorticoid deficiency | Familial glucocorticoid deficiency (disorder) | familial glucocorticoid deficiency
BMGC_DS15696,BMG_DS059386,Congenital isolated ACTH (adrenocorticotropic hormone) deficiency | Congenital isolated adrenocorticotropic hormone deficiency | Congenital isolated adrenocorticotropic hormone deficiency (disorder)
BMGC_DS15697,BMG_DS059388,C3 glomerulonephritis
BMGC_DS15698,BMG_DS059389,acute myeloid leukemia with MNX1-ETV6 fusion
BMGC_DS15699,BMG_DS059590,Urinary tract infection caused by Klebsiella | Urinary tract infection caused by Klebsiella (disorder)
BMGC_DS15700,BMG_DS059722,Autosomal Dominant Hereditary Pancreatitis
BMGC_DS15701,BMG_DS060005,Carbamoyl-Phosphate Synthase I Deficiency Disease | Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency | carbamoyl phosphate synthetase I deficiency disease
BMGC_DS15702,BMG_DS060006,Porencephalic cyst | Porencephalic cyst (disorder)
BMGC_DS15703,BMG_DS060007,Porencephaly | Porencephaly (disorder) | porencephaly
BMGC_DS15704,BMG_DS060008,"Thyrotropin deficiency, isolated"
BMGC_DS15705,BMG_DS060009,Autosomal recessive demyelinating Charcot-Marie-Tooth | Charcot-Marie-Tooth disease type 4 | Charcot-Marie-Tooth disease type 4 (disorder)
BMGC_DS15706,BMG_DS060011,Bulbar palsy | Bulbar palsy (disorder)
BMGC_DS15707,BMG_DS060012,Deaf Mutism | Deafness
BMGC_DS15708,BMG_DS060013,Dermatophytosis of nail | Onychomycosis caused by dermatophyte | Onychomycosis caused by dermatophyte (disorder) | Onychomycosis due to dermatophyte | Tinea of nail | Tinea unguium
BMGC_DS15709,BMG_DS060017,CHROMOSOME Xp22 DELETION SYNDROME
BMGC_DS15710,BMG_DS060018,NEC - Necrotising enterocolitis | NEC - Necrotizing enterocolitis | Necrotising enterocolitis | Necrotising enterocolitis in fetus OR newborn | Necrotising enterocolitis in foetus OR newborn | Necrotizing enterocolitis | Necrotizing enterocolitis in fetus OR newborn | Necrotizing enterocolitis in fetus OR newborn (disorder) | Pseudomembranous enterocolitis in newborn | perinatal necrotizing enterocolitis
BMGC_DS15711,BMG_DS060019,progressive muscular atrophy
BMGC_DS15712,BMG_DS060020,Dupuytren Contracture | Dupuytren's Disease
BMGC_DS15713,BMG_DS060021,"Guillain-Barre Syndrome | Guillain-Barre Syndrome, Familial | Guillain-Barre syndrome, familial"
BMGC_DS15714,BMG_DS060022,"Parkinson disease 11, autosomal dominant, susceptibility to"
BMGC_DS15715,BMG_DS060023,SPONDYLOCOSTAL DYSOSTOSIS 5 | spondylocostal dysostosis 5
BMGC_DS15716,BMG_DS060025,"Alopecia | Alopecia, Male Pattern | baldness, male pattern"
BMGC_DS15717,BMG_DS060026,"Trichothiodystrophy Syndromes | Trichothiodystrophy, Nonphotosensitive 1 | nonphotosensitive trichothiodystrophy 5 | photosensitive trichothiodystrophy"
BMGC_DS15718,BMG_DS060027,"DEAFNESS, AUTOSOMAL DOMINANT 40 | autosomal dominant nonsyndromic hearing loss 40"
BMGC_DS15719,BMG_DS060028,"DEAFNESS, AUTOSOMAL RECESSIVE 97 | autosomal recessive nonsyndromic hearing loss 97"
BMGC_DS15720,BMG_DS060029,"DEAFNESS, AUTOSOMAL DOMINANT 67 | autosomal dominant nonsyndromic hearing loss 67"
BMGC_DS15721,BMG_DS060031,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U | Charcot-Marie-Tooth disease axonal type 2U"
BMGC_DS15722,BMG_DS060032,JOUBERT SYNDROME 23 | Joubert syndrome 23
BMGC_DS15723,BMG_DS060033,"MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL | congenital myasthenic syndrome 1A"
BMGC_DS15724,BMG_DS060034,"FANCONI ANEMIA, COMPLEMENTATION GROUP T | Fanconi anemia complementation group T"
BMGC_DS15725,BMG_DS060035,JOUBERT SYNDROME 24 | Joubert syndrome 24
BMGC_DS15726,BMG_DS060036,JOUBERT SYNDROME 25 | Joubert syndrome 25
BMGC_DS15727,BMG_DS060037,JOUBERT SYNDROME 26 | Joubert syndrome 26
BMGC_DS15728,BMG_DS060039,MEND SYNDROME | MEND syndrome
BMGC_DS15729,BMG_DS060040,osteofibrous dysplasia
BMGC_DS15730,BMG_DS060041,OPTIC ATROPHY 8 | optic atrophy 8
BMGC_DS15731,BMG_DS060042,PAGET DISEASE OF BONE 6 | Paget disease of bone 6 | Paget's disease of bone 6
BMGC_DS15732,BMG_DS060043,"PAGET DISEASE OF BONE 2, EARLY-ONSET | Paget disease of bone 2, early-onset | Paget's disease of bone 2"
BMGC_DS15733,BMG_DS060044,PAGET DISEASE OF BONE 3 | Paget disease of bone 3 | Paget's disease of bone 3
BMGC_DS15734,BMG_DS060046,"Dupuytren Contracture | Fibromatosis, Palmar | palmar fibromatosis"
BMGC_DS15735,BMG_DS060047,Carbamoyl Phosphate Synthase 1 Deficiency | Carbamoyl-Phosphate Synthase I Deficiency Disease
BMGC_DS15736,BMG_DS060048,Cone-Rod Dystrophies | cone-rod dystrophy
BMGC_DS15737,BMG_DS060049,AL-RAQAD SYNDROME | Al-Raqad syndrome
BMGC_DS15738,BMG_DS060050,CHOPS SYNDROME | cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
BMGC_DS15739,BMG_DS060051,LUSCAN-LUMISH SYNDROME | Luscan-Lumish syndrome
BMGC_DS15740,BMG_DS060055,Familial IBSN (infantile bilateral striatal necrosis) | Familial infantile bilateral striatal necrosis | Familial infantile bilateral striatal necrosis (disorder) | Familial infantile striatonigral degeneration | Familial infantile striatonigral necrosis | familial infantile bilateral striatal necrosis
BMGC_DS15741,BMG_DS060060,non-immunoglobulin-mediated membranoproliferative glomerulonephritis
BMGC_DS15742,BMG_DS060063,autosomal dominant cerebellar ataxia
BMGC_DS15743,BMG_DS060068,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 | autosomal recessive progressive external ophthalmoplegia 1 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1"
BMGC_DS15744,BMG_DS060069,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | mitochondrial complex IV deficiency nuclear type 9"
BMGC_DS15745,BMG_DS060070,"ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY | autosomal recessive pyridoxine-refractory sideroblastic anemia 3 | sideroblastic anemia 3"
BMGC_DS15746,BMG_DS060071,"intellectual disability, autosomal dominant 34"
BMGC_DS15747,BMG_DS060072,FAMILIAL ADENOMATOUS POLYPOSIS 3 | familial adenomatous polyposis 3
BMGC_DS15748,BMG_DS060073,Spinocerebellar ataxia type 41 | Spinocerebellar ataxia type 41 (disorder) | spinocerebellar ataxia type 41
BMGC_DS15749,BMG_DS060074,"REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET | myopathy, reducing body, X-linked, childhood-onset | reducing body myopathy 1B"
BMGC_DS15750,BMG_DS060075,Deficiency of nudix hydrolase 15 | Deficiency of nudix hydrolase 15 (disorder) | NUDT15 deficiency | Nucleotide diphosphatase deficiency | Thiopurine poor metaboliser 2 | Thiopurine poor metabolizer 2
BMGC_DS15751,BMG_DS060076,Complex lethal osteochondrodysplasia | Complex lethal osteochondrodysplasia (disorder) | Complex lethal osteochondrodysplasia Symoens Barnes Gistelinck type | complex lethal osteochondrodysplasia
BMGC_DS15752,BMG_DS060077,MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) | mitochondrial DNA depletion syndrome 14 | mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
BMGC_DS15753,BMG_DS060078,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 | autosomal dominant Robinow syndrome 3"
BMGC_DS15754,BMG_DS060079,"NEPHROTIC SYNDROME, TYPE 13 | nephrotic syndrome type 13 | nephrotic syndrome, type 13"
BMGC_DS15755,BMG_DS060080,"NEPHROTIC SYNDROME, TYPE 12 | nephrotic syndrome type 12 | nephrotic syndrome, type 12"
BMGC_DS15756,BMG_DS060081,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 52 | autosomal recessive intellectual developmental disorder 52 | intellectual disability, autosomal recessive 52"
BMGC_DS15757,BMG_DS060082,"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 | advanced sleep phase syndrome 3"
BMGC_DS15758,BMG_DS060083,"LEUKODYSTROPHY, HYPOMYELINATING, 13 | hypomyelinating leukodystrophy 13"
BMGC_DS15759,BMG_DS060084,"CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION | cerebellar atrophy, visual impairment, and psychomotor retardation | cerebellar atrophy, visual impairment, and psychomotor retardation;"
BMGC_DS15760,BMG_DS060085,"IMMUNODEFICIENCY, COMMON VARIABLE, 13 | common variable immunodeficiency 13 | pancytopenia due to IKZF1 mutations"
BMGC_DS15761,BMG_DS060086,DDX41-related hematologic malignancy predisposition syndrome
BMGC_DS15762,BMG_DS060087,SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 | spinal muscular atrophy with congenital bone fractures 2
BMGC_DS15763,BMG_DS060088,SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 | spinal muscular atrophy with congenital bone fractures 1
BMGC_DS15764,BMG_DS060089,"Childhood-onset spasticity with hyperglycinaemia | Childhood-onset spasticity with hyperglycinemia | Childhood-onset spasticity with hyperglycinemia (disorder) | Childhood-onset spasticity with variant non-ketotic hyperglycinaemia | Childhood-onset spasticity with variant non-ketotic hyperglycinemia | Spasticity, ataxia, gait anomalies syndrome | spasticity-ataxia-gait anomalies syndrome"
BMGC_DS15765,BMG_DS060090,COWDEN SYNDROME 7 | Cowden syndrome 7
BMGC_DS15766,BMG_DS060091,"EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome | EVEN-plus syndrome | Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome | Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | even-plus syndrome"
BMGC_DS15767,BMG_DS060092,Progressive scapulohumeroperoneal distal myopathy | Progressive scapulohumeroperoneal distal myopathy (disorder) | progressive scapulohumeroperoneal distal myopathy
BMGC_DS15768,BMG_DS060093,CATARACT 45 | cataract 45
BMGC_DS15769,BMG_DS060094,"BRACHYDACTYLY, TYPE A1, D | brachydactyly type A1D"
BMGC_DS15770,BMG_DS060095,Generalised lymphatic dysplasia of Fotiou | Generalized lymphatic dysplasia of Fotiou | PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | PIEZO1-related generalised lymphatic dysplasia with systemic involvement | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | PIEZO1-related generalized lymphatic dysplasia with systemic involvement | PIEZO1-related lymphatic-related hydrops fetalis | Piezo type mechanosensitive ion channel component 1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) | lymphatic malformation 6
BMGC_DS15771,BMG_DS060096,autosomal recessive early-onset Parkinson disease 23
BMGC_DS15772,BMG_DS060097,"EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE | exercise intolerance, riboflavin-responsive"
BMGC_DS15773,BMG_DS060098,MEIER-GORLIN SYNDROME 6 | Meier-Gorlin syndrome 6
BMGC_DS15774,BMG_DS060099,CDG (congenital disorder of glycosylation) syndrome type IIp | Carbohydrate deficient glycoprotein syndrome type IIp | Congenital disorder of glycosylation type IIp | TMEM199 congenital disorder of glycosylation | TMEM199-CDG | TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation | Transmembrane protein 199 congenital disorder of glycosylation | Transmembrane protein 199 congenital disorder of glycosylation (disorder)
BMGC_DS15775,BMG_DS060100,CCDC115 congenital disorder of glycosylation | CCDC115-CDG | CCDC115-CDG - coiled-coil domain containing 115 congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type IIo | Coiled-coil domain containing 115 congenital disorder of glycosylation | Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) | Congenital disorder of glycosylation type 2o | Congenital disorder of glycosylation type IIo
BMGC_DS15776,BMG_DS060101,Autosomal recessive limb girdle muscular dystrophy type 2W | LIM zinc finger domain containing 2-related limb girdle muscular dystrophy | LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder) | LIMS2-related limb girdle muscular dystrophy | Limb girdle muscular dystrophy type 2W | autosomal recessive limb-girdle muscular dystrophy type 2W
BMGC_DS15777,BMG_DS060102,"Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) | severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"
BMGC_DS15778,BMG_DS060103,"IgA nephropathy, susceptibility to, 3"
BMGC_DS15779,BMG_DS060104,"MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 | microcephaly, short stature, and impaired glucose metabolism 2"
BMGC_DS15780,BMG_DS060105,"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION | severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"
BMGC_DS15781,BMG_DS060106,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15
BMGC_DS15782,BMG_DS060107,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6 | hyperphosphatasia with impaired intellectual development syndrome 6 | hyperphosphatasia with intellectual disability syndrome 6
BMGC_DS15783,BMG_DS060108,Lamb Shaffer syndrome | Lamb Shaffer syndrome (disorder) | Lamb-Shaffer syndrome | SOX5 haploinsufficiency syndrome
BMGC_DS15784,BMG_DS060109,"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 | hypotonia, infantile, with psychomotor retardation and characteristic facies 2"
BMGC_DS15785,BMG_DS060110,Spinocerebellar ataxia type 42 | Spinocerebellar ataxia type 42 (disorder) | spinocerebellar ataxia type 42
BMGC_DS15786,BMG_DS060111,"neuroblastoma, susceptibility to, 7"
BMGC_DS15787,BMG_DS060112,IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS | cardiac anomalies - developmental delay - facial dysmorphism syndrome
BMGC_DS15788,BMG_DS060113,orofacial cleft 15
BMGC_DS15789,BMG_DS060114,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2 | oocyte maturation defect 2
BMGC_DS15790,BMG_DS060115,"CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 | cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2"
BMGC_DS15791,BMG_DS060116,SECKEL SYNDROME 9 | Seckel syndrome 9
BMGC_DS15792,BMG_DS060117,LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA | leukodystrophy and acquired microcephaly with or without dystonia;
BMGC_DS15793,BMG_DS060118,"WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 | autosomal recessive woolly hair 3 | wooly hair, autosomal recessive 3"
BMGC_DS15794,BMG_DS060119,SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES | spastic paraplegia-severe developmental delay-epilepsy syndrome
BMGC_DS15795,BMG_DS060120,"HETEROTAXY, VISCERAL, 7, AUTOSOMAL | heterotaxy, visceral, 7, autosomal"
BMGC_DS15796,BMG_DS060121,"AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 1 | autoinflammatory syndrome, familial, Behcet-like 1 | familial Behcet-like autoinflammatory syndrome"
BMGC_DS15797,BMG_DS060122,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 | autosomal recessive intellectual developmental disorder 51 | intellectual disability, autosomal recessive 51"
BMGC_DS15798,BMG_DS060123,RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 | radioulnar synostosis with amegakaryocytic thrombocytopenia 2
BMGC_DS15799,BMG_DS060124,"Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) | Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome | Takenouchi Kosaki syndrome | macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"
BMGC_DS15800,BMG_DS060125,"TREMOR, HEREDITARY ESSENTIAL, 5 | essential tremor 5 | tremor, hereditary essential, 5"
BMGC_DS15801,BMG_DS060126,"skin creases, congenital symmetric circumferential, 2"
BMGC_DS15802,BMG_DS060127,"COENZYME Q10 DEFICIENCY, PRIMARY, 8 | primary coenzyme Q10 deficiency 8"
BMGC_DS15803,BMG_DS060128,"OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | optic atrophy 10 | optic atrophy 10 with or without ataxia, intellectual disability, and seizures"
BMGC_DS15804,BMG_DS060129,"NEPHROTIC SYNDROME, TYPE 11 | nephrotic syndrome type 11 | nephrotic syndrome, type 11"
BMGC_DS15805,BMG_DS060130,"CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES | palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"
BMGC_DS15806,BMG_DS060131,"CILIARY DYSKINESIA, PRIMARY, 33 | primary ciliary dyskinesia 33"
BMGC_DS15807,BMG_DS060132,"TOOTH AGENESIS, SELECTIVE, 7 | tooth agenesis, selective, 7"
BMGC_DS15808,BMG_DS060133,Carbohydrate deficient glycoprotein syndrome type IIn | Congenital disorder of glycosylation type 2n | Congenital disorder of glycosylation type IIn | SLC39A8 congenital disorder of glycosylation | SLC39A8-CDG | SLC39A8-CDG - solute carrier family 39 member 8 congenital disorder of glycosylation | Solute carrier family 39 member 8 congenital disorder of glycosylation | Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder)
BMGC_DS15809,BMG_DS060134,"MYASTHENIC SYNDROME, CONGENITAL, 19 | congenital myasthenic syndrome 19"
BMGC_DS15810,BMG_DS060135,rhizomelic chondrodysplasia punctata type 5
BMGC_DS15811,BMG_DS060136,"PARKINSON DISEASE 22, AUTOSOMAL DOMINANT | Parkinson disease 22, autosomal dominant | Parkinson's disease 22"
BMGC_DS15812,BMG_DS060137,DESANTO-SHINAWI SYNDROME | DeSanto-Shinawi syndrome
BMGC_DS15813,BMG_DS060138,"DEAFNESS, AUTOSOMAL DOMINANT 68 | autosomal dominant nonsyndromic hearing loss 68"
BMGC_DS15814,BMG_DS060139,"DEAFNESS, AUTOSOMAL DOMINANT 69 | autosomal dominant nonsyndromic hearing loss 69"
BMGC_DS15815,BMG_DS060140,DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 | dehydrated hereditary stomatocytosis 2
BMGC_DS15816,BMG_DS060141,"epilepsy, idiopathic generalized, susceptibility to, 14"
BMGC_DS15817,BMG_DS060142,"Charcot-Marie-Tooth disease type 4K | SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 | SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) | SURF1-related Charcot-Marie-Tooth disease type 4 | SURF1-related severe demyelinating Charcot-Marie-Tooth disease"
BMGC_DS15818,BMG_DS060143,"LEUKODYSTROPHY, HYPOMYELINATING, 12 | hypomyelinating leukodystrophy 12"
BMGC_DS15819,BMG_DS060144,"SSM (seizures, scoliosis, macrocephaly) syndrome | Seizures, scoliosis, macrocephaly syndrome | Seizures, scoliosis, macrocephaly syndrome (disorder) | seizures-scoliosis-macrocephaly syndrome"
BMGC_DS15820,BMG_DS060145,"MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 16, primary, autosomal recessive | primary autosomal recessive microcephaly 16"
BMGC_DS15821,BMG_DS060146,"SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 75"
BMGC_DS15822,BMG_DS060147,IMMUNODEFICIENCY 45 | immunodeficiency 45
BMGC_DS15823,BMG_DS060148,"ASCT1 deficiency | Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome | Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome | Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder) | spastic tetraplegia, thin corpus callosum, and progressive microcephaly | spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"
BMGC_DS15824,BMG_DS060149,17p11.2p12 microduplication syndrome | PMP22-RAI1 contiguous gene duplication syndrome | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | Trisomy 17p11.2p12 | Yuan Harel Lupski syndrome
BMGC_DS15825,BMG_DS060150,"ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) | Martsolf-like syndrome | developmental and epileptic encephalopathy, 35"
BMGC_DS15826,BMG_DS060151,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 | developmental and epileptic encephalopathy 34 | developmental and epileptic encephalopathy, 34"
BMGC_DS15827,BMG_DS060152,"EPILEPSY, PROGRESSIVE MYOCLONIC, 10 | early-onset Lafora body disease | progressive myoclonus epilepsy 10"
BMGC_DS15828,BMG_DS060153,"MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome | MINDS syndrome | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) | Smith Kingsmore syndrome | macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"
BMGC_DS15829,BMG_DS060154,IMMUNODEFICIENCY 44 | immunodeficiency 44 | primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
BMGC_DS15830,BMG_DS060155,"POROKERATOSIS 9, MULTIPLE TYPES | porokeratosis 9, multiple types"
BMGC_DS15831,BMG_DS060156,SENIOR-LOKEN SYNDROME 9 | Senior-Loken syndrome 9
BMGC_DS15832,BMG_DS060157,HEIMLER SYNDROME 2 | Heimler syndrome 2
BMGC_DS15833,BMG_DS060158,"CUTIS LAXA, AUTOSOMAL DOMINANT 3 | cutis laxa, autosomal dominant 3"
BMGC_DS15834,BMG_DS060159,CRANIOSYNOSTOSIS 6 | craniosynostosis 6
BMGC_DS15835,BMG_DS060160,"Kosaki overgrowth syndrome | Kosaki overgrowth syndrome (disorder) | Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome | skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"
BMGC_DS15836,BMG_DS060161,ADAMS-OLIVER SYNDROME 6 | Adams-Oliver syndrome 6
BMGC_DS15837,BMG_DS060162,"SED (spondyloepiphyseal dysplasia) Stanescu type | Spondyloepiphyseal dysplasia Stanescu type | Spondyloepiphyseal dysplasia Stanescu type (disorder) | spondyloepiphyseal dysplasia, Stanescu type"
BMGC_DS15838,BMG_DS060163,Au-Kline syndrome
BMGC_DS15839,BMG_DS060164,"Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome | Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome | Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) | microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"
BMGC_DS15840,BMG_DS060165,"IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY | common variable immunodeficiency 12 | immunodeficiency, common variable, 12"
BMGC_DS15841,BMG_DS060166,"SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE | spondylocostal dysostosis 6 | spondylocostal dysostosis 6, autosomal recessive"
BMGC_DS15842,BMG_DS060167,NOONAN SYNDROME 10 | Noonan syndrome 10
BMGC_DS15843,BMG_DS060168,RETINITIS PIGMENTOSA 74 | retinitis pigmentosa 74
BMGC_DS15844,BMG_DS060169,NOONAN SYNDROME 9 | Noonan syndrome 9
BMGC_DS15845,BMG_DS060170,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7 | autosomal dominant dyskeratosis congenita 6 | dyskeratosis congenita, autosomal recessive 7"
BMGC_DS15846,BMG_DS060171,"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 | autosomal dominant dyskeratosis congenita 6 | dyskeratosis congenita, autosomal dominant 6"
BMGC_DS15847,BMG_DS060172,"Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder) | Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"
BMGC_DS15848,BMG_DS060173,SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY | short-rib thoracic dysplasia 14 with polydactyly
BMGC_DS15849,BMG_DS060174,RETINITIS PIGMENTOSA 73 | retinitis pigmentosa 73
BMGC_DS15850,BMG_DS060175,"SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION | short stature, microcephaly, and endocrine dysfunction"
BMGC_DS15851,BMG_DS060176,PME (progressive myoclonic epilepsy) type 9 | Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency | Progressive myoclonic epilepsy due to LMNB2 deficiency | Progressive myoclonic epilepsy type 9 | Progressive myoclonic epilepsy type 9 (disorder) | Progressive myoclonus epilepsy type 9 | progressive myoclonic epilepsy type 9
BMGC_DS15852,BMG_DS060177,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | congenital muscular dystrophy-dystroglycanopathy type A9 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9"
BMGC_DS15853,BMG_DS060178,"thyroid cancer, nonmedullary, 5"
BMGC_DS15854,BMG_DS060179,"thyroid cancer, nonmedullary, 4"
BMGC_DS15855,BMG_DS060180,"herpes simplex encephalitis, susceptibility to, 7"
BMGC_DS15856,BMG_DS060181,"NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES | polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis"
BMGC_DS15857,BMG_DS060182,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 | autosomal dominant intellectual developmental disorder 39 | intellectual disability, autosomal dominant 39"
BMGC_DS15858,BMG_DS060183,ACHROMATOPSIA 7 | achromatopsia 7
BMGC_DS15859,BMG_DS060184,"DEAFNESS, AUTOSOMAL RECESSIVE 104 | autosomal recessive nonsyndromic hearing loss 104"
BMGC_DS15860,BMG_DS060185,"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 | maturity-onset diabetes of the young type 14"
BMGC_DS15861,BMG_DS060186,CATARACT 44 | cataract 44
BMGC_DS15862,BMG_DS060187,"OSTEOGENESIS IMPERFECTA, TYPE XVII | osteogenesis imperfecta type 17"
BMGC_DS15863,BMG_DS060188,"NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY | neuropathy, hereditary motor and sensory, type 6B"
BMGC_DS15864,BMG_DS060189,LETHAL CONGENITAL CONTRACTURE SYNDROME 9 | lethal congenital contracture syndrome 9
BMGC_DS15865,BMG_DS060190,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | mitochondrial complex IV deficiency nuclear type 13"
BMGC_DS15866,BMG_DS060191,"LEUKODYSTROPHY, HYPOMYELINATING, 11 | hypomyelinating leukodystrophy 11"
BMGC_DS15867,BMG_DS060192,SILVER-RUSSELL SYNDROME 3 | Silver-Russell syndrome 3
BMGC_DS15868,BMG_DS060193,HSAN8 - hereditary sensory and autonomic neuropathy type 8 | Hereditary sensory and autonomic neuropathy type 8 | Hereditary sensory and autonomic neuropathy type 8 (disorder) | Hereditary sensory and autonomic neuropathy type VIII | congenital insensitivity to pain-hypohidrosis syndrome
BMGC_DS15869,BMG_DS060194,"EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE | epidermolysis bullosa simplex with nail dystrophy"
BMGC_DS15870,BMG_DS060195,"NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES | microcephaly 15, primary, autosomal recessive | primary autosomal recessive microcephaly 15"
BMGC_DS15871,BMG_DS060196,"CILIARY DYSKINESIA, PRIMARY, 32 | primary ciliary dyskinesia 32"
BMGC_DS15872,BMG_DS060197,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2"
BMGC_DS15873,BMG_DS060198,BETHLEM MYOPATHY 2 | Bethlem myopathy 2
BMGC_DS15874,BMG_DS060199,ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 | Ullrich congenital muscular dystrophy 2
BMGC_DS15875,BMG_DS060200,RETINITIS PIGMENTOSA 72 | retinitis pigmentosa 72
BMGC_DS15876,BMG_DS060201,EXUDATIVE VITREORETINOPATHY 6 | exudative vitreoretinopathy 6
BMGC_DS15877,BMG_DS060202,"ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE | acrofacial dysostosis Cincinnati type"
BMGC_DS15878,BMG_DS060203,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 | familial temporal lobe epilepsy 8"
BMGC_DS15879,BMG_DS060204,"intellectual disability, autosomal recessive 50"
BMGC_DS15880,BMG_DS060205,"CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) | Carbohydrate deficient glycoprotein syndrome type Iz | Congenital disorder of glycosylation type 1z | developmental and epileptic encephalopathy, 50"
BMGC_DS15881,BMG_DS060206,ZIMMERMANN-LABAND SYNDROME 2 | Zimmermann-Laband syndrome 2
BMGC_DS15882,BMG_DS060207,Basel Vanagaite Smirin Yosef syndrome | Basel Vanagaite Smirin Yosef syndrome (disorder) | congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
BMGC_DS15883,BMG_DS060208,"CANDIDIASIS, FAMILIAL, 9 | candidiasis, familial, 9"
BMGC_DS15884,BMG_DS060209,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 | frontotemporal dementia and/or amyotrophic lateral sclerosis 4
BMGC_DS15885,BMG_DS060210,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 | frontotemporal dementia and/or amyotrophic lateral sclerosis 3
BMGC_DS15886,BMG_DS060211,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 | familial temporal lobe epilepsy 7"
BMGC_DS15887,BMG_DS060212,DOCK2 deficiency | IMMUNODEFICIENCY 40 | immunodeficiency 40
BMGC_DS15888,BMG_DS060213,"microphthalmia, isolated, with coloboma 10"
BMGC_DS15889,BMG_DS060214,"46,XY SEX REVERSAL 10 | 46,XY sex reversal 10"
BMGC_DS15890,BMG_DS060215,"PYCR2-related microcephaly, progressive leucoencephalopathy | PYCR2-related microcephaly, progressive leukoencephalopathy | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder) | hypomyelinating leukodystrophy 10"
BMGC_DS15891,BMG_DS060216,"HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1 | hypomagnesemia, seizures, and intellectual disability 1"
BMGC_DS15892,BMG_DS060217,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 | basal ganglia calcification, idiopathic, 6"
BMGC_DS15893,BMG_DS060218,DYSTONIA 27 | dystonia 27
BMGC_DS15894,BMG_DS060219,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 | developmental and epileptic encephalopathy 33 | developmental and epileptic encephalopathy, 33"
BMGC_DS15895,BMG_DS060220,"MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 14, primary, autosomal recessive | primary autosomal recessive microcephaly 14"
BMGC_DS15896,BMG_DS060221,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 | focal nonepidermolytic palmoplantar keratoderma 2 | isolated focal non-epidermolytic palmoplantar keratoderma"
BMGC_DS15897,BMG_DS060222,BRUGADA SYNDROME 9 | Brugada syndrome 9
BMGC_DS15898,BMG_DS060223,"DYSTONIA 26, MYOCLONIC | myoclonic dystonia 26"
BMGC_DS15899,BMG_DS060224,RETINITIS PIGMENTOSA 71 | retinitis pigmentosa 71
BMGC_DS15900,BMG_DS060225,"intellectual disability, autosomal dominant 38"
BMGC_DS15901,BMG_DS060226,"TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE | photosensitive trichothiodystrophy 2 | trichothiodystrophy 2, photosensitive"
BMGC_DS15902,BMG_DS060227,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G | congenital stationary night blindness 1G"
BMGC_DS15903,BMG_DS060228,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3"
BMGC_DS15904,BMG_DS060229,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4 | pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4"
BMGC_DS15905,BMG_DS060230,MMDS4 - multiple mitochondrial dysfunctions syndrome type 4 | Multiple mitochondrial dysfunctions syndrome type 4 | Multiple mitochondrial dysfunctions syndrome type 4 (disorder) | multiple mitochondrial dysfunctions syndrome 4
BMGC_DS15906,BMG_DS060231,MFDA - mandibulofacial dysostosis with alopecia | Mandibulofacial dysostosis with alopecia | Mandibulofacial dysostosis with alopecia (disorder) | mandibulofacial dysostosis with alopecia
BMGC_DS15907,BMG_DS060232,"developmental and epileptic encephalopathy, 32"
BMGC_DS15908,BMG_DS060233,White Sutton syndrome | White Sutton syndrome (disorder) | intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
BMGC_DS15909,BMG_DS060234,"Houge-Janssens syndrome 2 | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)"
BMGC_DS15910,BMG_DS060235,PARKINSON DISEASE 21 | Parkinson disease 21 | Parkinson's disease 21
BMGC_DS15911,BMG_DS060236,"Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder) | Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome"
BMGC_DS15912,BMG_DS060237,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 | autosomal recessive dyskeratosis congenita 6 | dyskeratosis congenita, autosomal recessive 6"
BMGC_DS15913,BMG_DS060238,"developmental and epileptic encephalopathy, 31A"
BMGC_DS15914,BMG_DS060239,IMMUNODEFICIENCY 39 | immunodeficiency 39
BMGC_DS15915,BMG_DS060240,LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA | lissencephaly 7 with cerebellar hypoplasia
BMGC_DS15916,BMG_DS060241,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 | developmental and epileptic encephalopathy 30 | developmental and epileptic encephalopathy, 30"
BMGC_DS15917,BMG_DS060242,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 | developmental and epileptic encephalopathy 29 | developmental and epileptic encephalopathy, 29"
BMGC_DS15918,BMG_DS060243,"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 | microcephaly and chorioretinopathy 3"
BMGC_DS15919,BMG_DS060244,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | autosomal dominant Robinow syndrome 2"
BMGC_DS15920,BMG_DS060245,"MYASTHENIC SYNDROME, CONGENITAL, 18 | congenital myasthenic syndrome 18"
BMGC_DS15921,BMG_DS060246,"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 | maturity-onset diabetes of the young type 13"
BMGC_DS15922,BMG_DS060247,"MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | congenital myasthenic syndrome 11"
BMGC_DS15923,BMG_DS060248,"MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | congenital myasthenic syndrome 9"
BMGC_DS15924,BMG_DS060249,"MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL | congenital myasthenic syndrome 4B"
BMGC_DS15925,BMG_DS060250,"MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | congenital myasthenic syndrome 3C"
BMGC_DS15926,BMG_DS060251,"MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL | congenital myasthenic syndrome 3B"
BMGC_DS15927,BMG_DS060252,"MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL | congenital myasthenic syndrome 3A"
BMGC_DS15928,BMG_DS060253,"MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | congenital myasthenic syndrome 2C"
BMGC_DS15929,BMG_DS060254,"MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL | congenital myasthenic syndrome 2A"
BMGC_DS15930,BMG_DS060255,"intellectual disability, autosomal dominant 33"
BMGC_DS15931,BMG_DS060256,SENIOR-LOKEN SYNDROME 8 | Senior-Loken syndrome 8
BMGC_DS15932,BMG_DS060257,"MYASTHENIC SYNDROME, CONGENITAL, 17 | congenital myasthenic syndrome 17"
BMGC_DS15933,BMG_DS060258,SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 13 with or without polydactyly
BMGC_DS15934,BMG_DS060259,LIPOYLTRANSFERASE 1 DEFICIENCY | lipoyl transferase 1 deficiency
BMGC_DS15935,BMG_DS060260,SINGLETON-MERTEN SYNDROME 2 | Singleton-Merten syndrome 2
BMGC_DS15936,BMG_DS060261,"PLACK (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome | PLACK syndrome | Peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome | Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome | Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) | peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"
BMGC_DS15937,BMG_DS060262,COLE-CARPENTER SYNDROME 2 | Cole-Carpenter syndrome 2
BMGC_DS15938,BMG_DS060263,"Lichtenstein Knorr syndrome | Lichtenstein-Knorr syndrome | Progressive autosomal recessive ataxia, deafness syndrome | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | SCAR19 - spinocerebellar ataxia, autosomal recessive 19"
BMGC_DS15939,BMG_DS060264,OPTIC ATROPHY 9 | optic atrophy 9
BMGC_DS15940,BMG_DS060265,LETHAL CONGENITAL CONTRACTURE SYNDROME 8 | lethal congenital contracture syndrome 8
BMGC_DS15941,BMG_DS060266,LETHAL CONGENITAL CONTRACTURE SYNDROME 7 | lethal congenital contracture syndrome 7
BMGC_DS15942,BMG_DS060267,NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY | glutamate pyruvate transaminase 2 deficiency | neurodevelopmental disorder with spastic paraplegia and microcephaly
BMGC_DS15943,BMG_DS060268,CATARACT 43 | cataract 43
BMGC_DS15944,BMG_DS060269,congenital bile acid synthesis defect 5
BMGC_DS15945,BMG_DS060270,MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY | mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
BMGC_DS15946,BMG_DS060271,"3-methylglutaconic aciduria type 7 | 3-methylglutaconic aciduria type 7 (disorder) | 3-methylglutaconic aciduria type VII | 3-methylglutaconic aciduria, cataract, neurologic involvement, neutropenia syndrome | CLBP (ClpB homolog, mitochondrial AAA ATPase chaperonin) deficiency | MGA7 - 3-methylglutaconic aciduria type 7"
BMGC_DS15947,BMG_DS060272,"AMELOGENESIS IMPERFECTA, TYPE IF | amelogenesis imperfecta type 1F"
BMGC_DS15948,BMG_DS060273,"Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome | progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"
BMGC_DS15949,BMG_DS060274,"Arboleda Tham syndrome | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) | autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"
BMGC_DS15950,BMG_DS060275,ATAXIA-OCULOMOTOR APRAXIA 4 | ataxia - oculomotor apraxia type 4 | ataxia-oculomotor apraxia type 4
BMGC_DS15951,BMG_DS060276,"CLIFAHDD (congenital limbs, face contractures, hypotonia, developmental delay) syndrome | CLIFAHDD syndrome | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome (disorder) | congenital contractures of the limbs and face, hypotonia, and developmental delay"
BMGC_DS15952,BMG_DS060277,SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES | short stature with nonspecific skeletal abnormalities
BMGC_DS15953,BMG_DS060278,Hereditary pulmonary alveolar proteinosis with hepatic involvement | Interstitial lung and liver disease | Pulmonary alveolar proteinosis Reunion island type | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency | Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) | severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
BMGC_DS15954,BMG_DS060279,PREMATURE OVARIAN FAILURE 10 | premature ovarian failure 10 | primary ovarian insufficiency 10
BMGC_DS15955,BMG_DS060280,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION"
BMGC_DS15956,BMG_DS060281,"ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE | acromesomelic dysplasia 3 | acromesomelic dysplasia-3"
BMGC_DS15957,BMG_DS060282,"MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | congenital myasthenic syndrome 1B | myasthenic syndrome, congenital, 1B, fast-channel"
BMGC_DS15958,BMG_DS060283,PEELING SKIN SYNDROME 4 | peeling skin syndrome 4
BMGC_DS15959,BMG_DS060284,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 | hypertrophic cardiomyopathy 25"
BMGC_DS15960,BMG_DS060285,"thyroid cancer, nonmedullary, 3"
BMGC_DS15961,BMG_DS060286,DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
BMGC_DS15962,BMG_DS060287,Spondylo-ocular syndrome | Spondyloocular syndrome | Spondyloocular syndrome (disorder) | spondylo-ocular syndrome
BMGC_DS15963,BMG_DS060288,"MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL | congenital myasthenic syndrome 4A"
BMGC_DS15964,BMG_DS060289,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24"
BMGC_DS15965,BMG_DS060290,"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 | myopathy, lactic acidosis, and sideroblastic anemia 3"
BMGC_DS15966,BMG_DS060291,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | female-restricted syndromic X-linked intellectual disability 99 | intellectual disability, X-linked 99, syndromic, female-restricted"
BMGC_DS15967,BMG_DS060292,syndromic X-linked intellectual disability 34
BMGC_DS15968,BMG_DS060293,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | intellectual disability, X-linked, syndromic 33"
BMGC_DS15969,BMG_DS060294,RITSCHER-SCHINZEL SYNDROME 2 | Ritscher-Schinzel syndrome 2
BMGC_DS15970,BMG_DS060295,"TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE | trichothiodystrophy 5, nonphotosensitive"
BMGC_DS15971,BMG_DS060296,LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 | linear skin defects with multiple congenital anomalies 3
BMGC_DS15972,BMG_DS060297,DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS | Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
BMGC_DS15973,BMG_DS060298,"REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET | myopathy, reducing body, X-linked, early-onset, severe | reducing body myopathy 1A"
BMGC_DS15974,BMG_DS060299,"Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder) | colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"
BMGC_DS15975,BMG_DS060300,"ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY | autosomal recessive pyridoxine-refractory sideroblastic anemia 2 | sideroblastic anemia 2"
BMGC_DS15976,BMG_DS060301,"thyroid cancer, nonmedullary, 2"
BMGC_DS15977,BMG_DS060302,SINGLETON-MERTEN SYNDROME 1 | Singleton-Merten syndrome 1
BMGC_DS15978,BMG_DS060303,"ANEMIA, SIDEROBLASTIC, 4 | autosomal dominant sideroblastic anemia | autosomal dominant sideroblastic anemia 4"
BMGC_DS15979,BMG_DS060304,"Classical Ehlers-Danlos syndrome | Ehlers-Danlos syndrome classic type | Ehlers-Danlos syndrome classic type (disorder) | Ehlers-Danlos syndrome classical type | Ehlers-Danlos syndrome, classic type"
BMGC_DS15980,BMG_DS060305,CHROMOSOME 10p12-p11 DELETION SYNDROME | DeSanto-Shinawi syndrome
BMGC_DS15981,BMG_DS060306,CHROMOSOME 2p25.3 DUPLICATION SYNDROME | autosomal dominant intellectual developmental disorder 39
BMGC_DS15982,BMG_DS060307,CHROMOSOME 2p25.3 DELETION SYNDROME | autosomal dominant intellectual developmental disorder 39
BMGC_DS15983,BMG_DS060308,"CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL | neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"
BMGC_DS15984,BMG_DS060309,"RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION"
BMGC_DS15985,BMG_DS060310,"EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY"
BMGC_DS15986,BMG_DS060311,"PLASMINOGEN DEFICIENCY, TYPE II | dysplasminogenemia"
BMGC_DS15987,BMG_DS060312,14q32 duplication syndrome | 14q32 duplication syndrome (disorder) | Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication | Trisomy 14q32
BMGC_DS15988,BMG_DS060313,CHROMOSOME 13q32 DELETION SYNDROME
BMGC_DS15989,BMG_DS060314,"migraine, with or without aura, susceptibility to, 13"
BMGC_DS15990,BMG_DS060315,RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT | familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
BMGC_DS15991,BMG_DS060317,"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES"
BMGC_DS15992,BMG_DS060318,SPERMATOGENIC FAILURE 6
BMGC_DS15993,BMG_DS060320,IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS
BMGC_DS15994,BMG_DS060331,"ANEMIA, SIDEROBLASTIC, 1, LATE-ONSET"
BMGC_DS15995,BMG_DS060339,CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME | chromosome 10q23 deletion syndrome
BMGC_DS15996,BMG_DS060341,VACTERL/vater association
BMGC_DS15997,BMG_DS060394,Isolated polycystic liver disease | Isolated polycystic liver disease (disorder)
BMGC_DS15998,BMG_DS060396,Bilateral Vestibulopathy
BMGC_DS15999,BMG_DS060614,Colonic inflammatory bowel disease unclassified (IBDU) | Indeterminate colitis
BMGC_DS16000,BMG_DS060659,Celiac disease with steatorrhea | Coeliac disease
BMGC_DS16001,BMG_DS060756,autosomal recessive osteopetrosis
BMGC_DS16002,BMG_DS060760,Branchio-otic syndrome | Branchiootic syndrome | Branchiootic syndrome (disorder) | branchiootic syndrome
BMGC_DS16003,BMG_DS060773,"Proximal 16p11.2 microdeletion syndrome | Proximal 16p11.2 microdeletion syndrome (disorder) | chromosome 16p11.2 deletion syndrome, 593-kb"
BMGC_DS16004,BMG_DS060776,Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | TMEM70 related mitochondrial encephalo-cardio-myopathy | mitochondrial complex V (ATP synthase) deficiency nuclear type 2
BMGC_DS16005,BMG_DS060779,Hypothyroidism due to mutation in transcription factor of pituitary development | Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) | hypothyroidism due to deficient transcription factors involved in pituitary development or function
BMGC_DS16006,BMG_DS060785,Familial idiopathic steroid-resistant nephrotic syndrome | Genetic steroid-resistant nephrotic syndrome | Genetic steroid-resistant nephrotic syndrome (disorder) | Hereditary steroid-resistant nephrotic syndrome | familial idiopathic steroid-resistant nephrotic syndrome
BMGC_DS16007,BMG_DS060786,"COX deficiency, infantile mitochondrial myopathy | Fatal infantile cytochrome C oxidase deficiency | Fatal infantile cytochrome C oxidase deficiency (disorder) | fatal infantile encephalocardiomyopathy"
BMGC_DS16008,BMG_DS060787,"Combined pituitary hormone deficiency genetic form | Combined pituitary hormone deficiency genetic form (disorder) | Familial congenital hypopituitarism | Multiple pituitary hormone deficiency genetic form | combined pituitary hormone deficiencies, genetic form"
BMGC_DS16009,BMG_DS060788,Familial thyroid dyshormonogenesis | Familial thyroid dyshormonogenesis (disorder) | familial thyroid dyshormonogenesis
BMGC_DS16010,BMG_DS060794,Fetal iodine syndrome | Fetal iodine syndrome (disorder) | Foetal iodine syndrome | fetal iodine syndrome
BMGC_DS16011,BMG_DS060796,Distal deletion 1q | Distal monosomy 1q | Distal monosomy 1q syndrome | Distal monosomy 1q syndrome (disorder) | Monosomy 1qter | Telomeric deletion 1q | distal monosomy 1q
BMGC_DS16012,BMG_DS060798,Congenital plasminogen activator inhibitor deficiency type 1 | Congenital plasminogen activator inhibitor deficiency type 1 (disorder)
BMGC_DS16013,BMG_DS060803,Obesity due to melanocortin 4 receptor deficiency | Obesity due to melanocortin 4 receptor deficiency (disorder) | obesity due to melanocortin 4 receptor deficiency
BMGC_DS16014,BMG_DS060812,Familial pseudohyperkalaemia | Familial pseudohyperkalemia | Familial pseudohyperkalemia (disorder)
BMGC_DS16015,BMG_DS060816,"Hereditary palmoplantar keratoderma Gamborg Nielsen type | Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) | hereditary palmoplantar keratoderma, Gamborg-Nielsen type | mal de Meleda"
BMGC_DS16016,BMG_DS060817,Autosomal dominant cortical myoclonus and epilepsy | BAFME - Benign adult familial myoclonic epilepsy | Benign adult familial myoclonic epilepsy | Benign adult familial myoclonic epilepsy (disorder) | Benign adult familial myoclonus epilepsy | benign adult familial myoclonic epilepsy | familial adult myoclonic epilepsy
BMGC_DS16017,BMG_DS060820,Boichis disease | Boichis syndrome | Nephronophthisis hepatic fibrosis syndrome | Nephronophthisis hepatic fibrosis syndrome (disorder) | Senior-Boichis syndrome
BMGC_DS16018,BMG_DS060821,Hyperinsulinism due to deficiency of glucokinase | Hyperinsulinism due to deficiency of glucokinase (disorder) | Hyperinsulinism due to glucokinase deficiency
BMGC_DS16019,BMG_DS060824,Renal tubulopathy with encephalopathy and liver failure syndrome | Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | renal tubulopathy-encephalopathy-liver failure syndrome
BMGC_DS16020,BMG_DS060825,Autosomal recessive sideroblastic anaemia | Autosomal recessive sideroblastic anemia | Autosomal recessive sideroblastic anemia (disorder) | autosomal recessive sideroblastic anemia
BMGC_DS16021,BMG_DS060826,Hyperinsulinism due to HNF4A deficiency | Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency | Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | hyperinsulinism due to HNF4A deficiency
BMGC_DS16022,BMG_DS060828,Autosomal dominant hyperinsulinism due to SUR1 deficiency | Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency | Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | autosomal dominant hyperinsulinism due to SUR1 deficiency
BMGC_DS16023,BMG_DS060829,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | autosomal dominant hyperinsulinism due to Kir6.2 deficiency
BMGC_DS16024,BMG_DS060832,PMLD - Pelizaeus Merzbacher like disease | Pelizaeus Merzbacher like disease | Pelizaeus Merzbacher like disease (disorder) | Pelizaeus-Merzbacher-like disease
BMGC_DS16025,BMG_DS060833,Syndromic X-linked ichthyosis | Syndromic recessive X-linked ichthyosis | Syndromic recessive X-linked ichthyosis (disorder) | syndromic recessive X-linked ichthyosis
BMGC_DS16026,BMG_DS060834,Joubert syndrome with renal defect | Joubert syndrome with renal defect (disorder)
BMGC_DS16027,BMG_DS060835,Joubert syndrome with ocular defect | Joubert syndrome with ocular defect (disorder) | Joubert syndrome with retinopathy
BMGC_DS16028,BMG_DS060843,Severe combined immunodeficiency due to DNA-PKcs deficiency | Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency | Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)
BMGC_DS16029,BMG_DS060847,nanophthalmia
BMGC_DS16030,BMG_DS060853,Congenital alpha-2-antiplasmin deficiency | Congenital alpha-2-antiplasmin deficiency (disorder) | Congenital alpha2-antiplasmin deficiency
BMGC_DS16031,BMG_DS060855,Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor | Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) | Familial non-autoimmune autosomal dominant hyperthyroidism | Familial non-immune hyperthyroidism
BMGC_DS16032,BMG_DS060858,hereditary recurrent myoglobinuria
BMGC_DS16033,BMG_DS060861,FRAXF syndrome | FRAXF syndrome (disorder)
BMGC_DS16034,BMG_DS060863,Hereditary phaeochromocytoma and paraganglioma | Hereditary pheochromocytoma and paraganglioma | Hereditary pheochromocytoma and paraganglioma (disorder)
BMGC_DS16035,BMG_DS060865,Congenital deficiency of alpha-fetoprotein | Congenital deficiency of alpha-fetoprotein (disorder)
BMGC_DS16036,BMG_DS060872,Autosomal dominant late onset Parkinson disease | Autosomal dominant late onset Parkinson disease (disorder) | Hereditary late onset Parkinson disease
BMGC_DS16037,BMG_DS060910,Autosomal dominant spondylocostal dysostosis | Autosomal dominant spondylocostal dysostosis (disorder) | Autosomal dominant spondylocostal dysplasia | autosomal dominant spondylocostal dysostosis
BMGC_DS16038,BMG_DS060918,Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)
BMGC_DS16039,BMG_DS060920,Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome | Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Morse Rawnsley Sargent syndrome
BMGC_DS16040,BMG_DS060928,Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type | Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) | Non-epidermolytic palmoplantar keratoderma
BMGC_DS16041,BMG_DS060935,Gingival fibromatosis and hypertrichosis syndrome | Gingival fibromatosis and hypertrichosis syndrome (disorder) | Hirsutism congenital gingival hyperplasia syndrome
BMGC_DS16042,BMG_DS060943,Familial isolated ARVD (arrhythmogenic right ventricular dysplasia) | Familial isolated arrhythmogenic right ventricular cardiomyopathy | Familial isolated arrhythmogenic right ventricular dysplasia | Familial isolated arrhythmogenic right ventricular dysplasia (disorder) | familial isolated arrhythmogenic right ventricular dysplasia
BMGC_DS16043,BMG_DS060955,Lissencephaly co-occurrent with congenital cerebellar hypoplasia | Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) | Lissencephaly with cerebellar hypoplasia | lissencephaly with cerebellar hypoplasia
BMGC_DS16044,BMG_DS060957,Acetazolamide responsive myotonia | Acetazolamide responsive myotonia (disorder) | acetazolamide-responsive myotonia
BMGC_DS16045,BMG_DS060958,Lissencephaly type 1 due to doublecortin gene mutation | Lissencephaly type 1 due to doublecortin gene mutation (disorder) | X-linked lissencephaly type 1
BMGC_DS16046,BMG_DS060962,Mulchandani-Bhoj-Conlin syndrome | maternal uniparental disomy of chromosome 20
BMGC_DS16047,BMG_DS060963,Congenital epithelial dysplasia of intestine | Congenital epithelial dysplasia of intestine (disorder) | Congenital tufting enteropathy | Intestinal epithelial dysplasia | Tufting enteropathy
BMGC_DS16048,BMG_DS060964,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis | Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)
BMGC_DS16049,BMG_DS060967,Familial avascular necrosis of femoral head | Familial avascular necrosis of head of femur | Familial avascular necrosis of head of femur (disorder) | familial avascular necrosis of femoral head
BMGC_DS16050,BMG_DS060968,ATTRV122I amyloidosis | Transthyretin amyloid cardiopathy | Transthyretin related familial amyloid cardiomyopathy | Transthyretin related familial amyloid cardiomyopathy (disorder)
BMGC_DS16051,BMG_DS060970,Desmin related myopathy with Mallory body-like inclusions | Desmin related myopathy with Mallory body-like inclusions (disorder) | Early onset desmin related myopathy | desmin-related myopathy with Mallory body-like inclusions
BMGC_DS16052,BMG_DS060971,Atypical Werner syndrome | Atypical Werner syndrome (disorder) | Atypical progeroid syndrome | atypical Werner syndrome
BMGC_DS16053,BMG_DS060984,Infection of skin of eyelid and periocular region | Infection of skin of eyelid and periocular region (disorder)
BMGC_DS16054,BMG_DS060986,Familial abdominal aortic aneurysm | Familial abdominal aortic aneurysm (disorder) | familial abdominal aortic aneurysm
BMGC_DS16055,BMG_DS060987,Early onset Parkinson disease | Early onset Parkinson's disease | Young onset Parkinson disease | Young onset Parkinson disease (disorder) | Young onset Parkinson's disease | young-onset Parkinson disease
BMGC_DS16056,BMG_DS060989,Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria | Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) | Fatal infantile lactic acidosis with methylmalonic aciduria
BMGC_DS16057,BMG_DS060990,X-linked retinal dysplasia | X-linked retinal dysplasia (disorder)
BMGC_DS16058,BMG_DS060994,Familial spontaneous pneumothorax | Familial spontaneous pneumothorax (disorder)
BMGC_DS16059,BMG_DS061002,Chemical and Drug Induced Liver Injury
BMGC_DS16060,BMG_DS061003,ciliopathy
BMGC_DS16061,BMG_DS061005,Chemical and Drug Induced Liver Injury | Chemically-Induced Liver Toxicity
BMGC_DS16062,BMG_DS061162,frontometaphyseal dysplasia 1
BMGC_DS16063,BMG_DS061164,"Childhood Absence Epilepsy | Epilepsy, Absence | absence epilepsy | childhood absence epilepsy"
BMGC_DS16064,BMG_DS061167,PDA1
BMGC_DS16065,BMG_DS061168,Alzheimer disease 9
BMGC_DS16066,BMG_DS061169,"Mucolipidosis I | Mucolipidosis type I | Mucolipidosis, type I | Neuraminidase deficiency | Neuroaminidase deficiency | Sialidase deficiency | Sialidosis | Sialidosis (disorder) | sialidosis type 2"
BMGC_DS16067,BMG_DS061170,"polydactyly, postaxial, type A1"
BMGC_DS16068,BMG_DS061171,HIBCH-gene related deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase | Methacrylic aciduria | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | Valine metabolic defect
BMGC_DS16069,BMG_DS061174,"DEAFNESS, AUTOSOMAL DOMINANT 66 | autosomal dominant nonsyndromic hearing loss 66"
BMGC_DS16070,BMG_DS061175,"TONNE-KALSCHEUER SYNDROME | Tonne-Kalscheuer syndrome | intellectual disability, X-linked 61"
BMGC_DS16071,BMG_DS061177,MIRAGE SYNDROME | MIRAGE syndrome
BMGC_DS16072,BMG_DS061178,"FANCONI ANEMIA, COMPLEMENTATION GROUP R | Fanconi anemia complementation group R"
BMGC_DS16073,BMG_DS061180,"AORTIC ANEURYSM, FAMILIAL THORACIC 10 | aortic aneurysm, familial thoracic 10"
BMGC_DS16074,BMG_DS061181,"SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 62"
BMGC_DS16075,BMG_DS061182,"SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY | spastic paraplegia, intellectual disability, nystagmus, and obesity"
BMGC_DS16076,BMG_DS061183,BAND HETEROTOPIA | band heterotopia of brain
BMGC_DS16077,BMG_DS061184,PATENT DUCTUS ARTERIOSUS 2 | patent ductus arteriosus 2
BMGC_DS16078,BMG_DS061185,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1"
BMGC_DS16079,BMG_DS061186,METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA | methemoglobinemia and ambiguous genitalia | methemoglobinemia type 4
BMGC_DS16080,BMG_DS061188,Post-Cardiac Arrest Syndrome | post-cardiac arrest syndrome
BMGC_DS16081,BMG_DS061194,vulvar keratoacanthoma
BMGC_DS16082,BMG_DS061202,ovarian endometrioid stromal and related neoplasms | ovarian endometrioid stromal sarcoma
BMGC_DS16083,BMG_DS061205,RELA fusion-positive ependymoma
BMGC_DS16084,BMG_DS061206,endometrioid stromal and related neoplasms of the vagina | vaginal endometrial stromal tumor
BMGC_DS16085,BMG_DS061207,cervix endometrial stromal tumor | endometrioid stromal and related neoplasms of the cervix
BMGC_DS16086,BMG_DS061211,cervical villoglandular adenocarcinoma | villoglandular variant cervical mucinous adenocarcinoma
BMGC_DS16087,BMG_DS061216,deficiency of adenosine deaminase 2
BMGC_DS16088,BMG_DS061217,acute flaccid myelitis
BMGC_DS16089,BMG_DS061223,diseases of the central nervous system caused by prions
BMGC_DS16090,BMG_DS061237,megaloblastic anemia unresponsive to vitamin B12 or folate therapy
BMGC_DS16091,BMG_DS061239,diabetes (mellitus) due to autoimmune process | type 1 diabetes mellitus 10 | type 1 diabetes mellitus 11 | type 1 diabetes mellitus 12 | type 1 diabetes mellitus 13 | type 1 diabetes mellitus 15 | type 1 diabetes mellitus 17 | type 1 diabetes mellitus 18 | type 1 diabetes mellitus 19 | type 1 diabetes mellitus 2 | type 1 diabetes mellitus 20 | type 1 diabetes mellitus 21 | type 1 diabetes mellitus 22 | type 1 diabetes mellitus 23 | type 1 diabetes mellitus 24 | type 1 diabetes mellitus 3 | type 1 diabetes mellitus 4 | type 1 diabetes mellitus 5 | type 1 diabetes mellitus 6 | type 1 diabetes mellitus 7 | type 1 diabetes mellitus 8
BMGC_DS16092,BMG_DS061240,diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction | type 1 diabetes mellitus 10 | type 1 diabetes mellitus 11 | type 1 diabetes mellitus 12 | type 1 diabetes mellitus 13 | type 1 diabetes mellitus 15 | type 1 diabetes mellitus 17 | type 1 diabetes mellitus 18 | type 1 diabetes mellitus 19 | type 1 diabetes mellitus 2 | type 1 diabetes mellitus 20 | type 1 diabetes mellitus 21 | type 1 diabetes mellitus 22 | type 1 diabetes mellitus 23 | type 1 diabetes mellitus 24 | type 1 diabetes mellitus 3 | type 1 diabetes mellitus 4 | type 1 diabetes mellitus 5 | type 1 diabetes mellitus 6 | type 1 diabetes mellitus 7 | type 1 diabetes mellitus 8
BMGC_DS16093,BMG_DS061241,idiopathic diabetes (mellitus) | type 1 diabetes mellitus 10 | type 1 diabetes mellitus 11 | type 1 diabetes mellitus 12 | type 1 diabetes mellitus 13 | type 1 diabetes mellitus 15 | type 1 diabetes mellitus 17 | type 1 diabetes mellitus 18 | type 1 diabetes mellitus 19 | type 1 diabetes mellitus 2 | type 1 diabetes mellitus 20 | type 1 diabetes mellitus 21 | type 1 diabetes mellitus 22 | type 1 diabetes mellitus 23 | type 1 diabetes mellitus 24 | type 1 diabetes mellitus 3 | type 1 diabetes mellitus 4 | type 1 diabetes mellitus 5 | type 1 diabetes mellitus 6 | type 1 diabetes mellitus 7 | type 1 diabetes mellitus 8
BMGC_DS16094,BMG_DS061242,diabetes (mellitus) due to insulin secretory defect
BMGC_DS16095,BMG_DS061246,the listed conditions whether the disorder is in the pituitary or the hypothalamus
BMGC_DS16096,BMG_DS061252,Alzheimer's dementia senile and presenile forms | Alzheimer's disease 10 | Alzheimer's disease 11 | Alzheimer's disease 12 | Alzheimer's disease 13 | Alzheimer's disease 14 | Alzheimer's disease 15 | Alzheimer's disease 2 | Alzheimer's disease 5 | Alzheimer's disease 6 | Alzheimer's disease 7 | Alzheimer's disease 8
BMGC_DS16097,BMG_DS061277,endarteritis deformans or obliterans
BMGC_DS16098,BMG_DS061339,Leser-Trélat disease
BMGC_DS16099,BMG_DS061349,cervicothoracic disc disorders with cervicalgia
BMGC_DS16100,BMG_DS061350,cervicothoracic disc disorders
BMGC_DS16101,BMG_DS061370,hyperplastic polyposis syndrome
BMGC_DS16102,BMG_DS061500,Cryptogenic multifocal ulcerous stenosing enteritis | Cryptogenic multifocal ulcerous stenosing enteritis (disorder) | cryptogenic multifocal ulcerous stenosing enteritis
BMGC_DS16103,BMG_DS061566,X-linked congenital dyserythropoietic anaemia with thrombocytopenia | X-linked congenital dyserythropoietic anemia with thrombocytopenia | X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | thrombocytopenia with congenital dyserythropoietic anemia
BMGC_DS16104,BMG_DS061576,"Juvenile cataract, microcornea, renal glucosuria syndrome | Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)"
BMGC_DS16105,BMG_DS061579,"Dystrophic epidermolysis bullosa nails only | Dystrophic epidermolysis bullosa nails only (disorder) | Nails only DEB (dystrophic epidermolysis bullosa) | dystrophic epidermolysis bullosa, nails only"
BMGC_DS16106,BMG_DS061580,Dysspondyloenchondromatosis | Dysspondyloenchondromatosis (disorder) | dysspondyloenchondromatosis
BMGC_DS16107,BMG_DS061589,Congenital hereditary facial palsy with variable deafness | Congenital hereditary facial paralysis with variable hearing loss syndrome | Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) | congenital hereditary facial paralysis-variable hearing loss syndrome
BMGC_DS16108,BMG_DS061599,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) | Charcot-Marie-Tooth disease dominant intermediate E | Charcot-Marie-Tooth disease with nephropathy syndrome
BMGC_DS16109,BMG_DS061600,"Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome | Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)"
BMGC_DS16110,BMG_DS061601,Autosomal dominant beta2-microglobulinic amyloidosis | Autosomal dominant beta2-microglobulinic amyloidosis (disorder) | Variant ABeta2M amyloidosis | variant ABeta2M amyloidosis
BMGC_DS16111,BMG_DS061602,Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome | Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
BMGC_DS16112,BMG_DS061607,"Agnathia, holoprosencephaly, situs inversus syndrome | Agnathia, holoprosencephaly, situs inversus syndrome (disorder)"
BMGC_DS16113,BMG_DS061608,"Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Graham Cox syndrome"
BMGC_DS16114,BMG_DS061620,Mitochondrial encephalomyopathy due to COXPD6 deficiency | Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 | Severe X-linked mitochondrial encephalomyopathy | Severe X-linked mitochondrial encephalomyopathy (disorder)
BMGC_DS16115,BMG_DS061622,"Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)"
BMGC_DS16116,BMG_DS061632,"Overgrowth, macrocephaly, facial dysmorphism syndrome | Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) | RNF135 (ring finger protein 135) related overgrowth syndrome | Ring finger protein 135 related overgrowth syndrome"
BMGC_DS16117,BMG_DS061635,"Osteosclerosis, developmental delay, craniosynostosis syndrome | Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) | osteosclerosis-developmental delay-craniosynostosis syndrome"
BMGC_DS16118,BMG_DS061657,Obesity due to prohormone convertase I deficiency | Obesity due to prohormone convertase I deficiency (disorder)
BMGC_DS16119,BMG_DS061667,"MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome | MPPH syndrome | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"
BMGC_DS16120,BMG_DS061746,Microduplication Xp11.22p11.23 syndrome | Microduplication Xp11.22p11.23 syndrome (disorder) | Trisomy Xp11.22-p11.23
BMGC_DS16121,BMG_DS061747,Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR2 deficiency | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) | autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
BMGC_DS16122,BMG_DS061751,"Familial juvenile hyperuricaemic nephropathy type 2 | Familial juvenile hyperuricemic nephropathy type 2 | Hyperuricaemia, anaemia, renal failure syndrome | Hyperuricemia, anemia, renal failure syndrome | Hyperuricemia, anemia, renal failure syndrome (disorder) | Renin associated familial juvenile hyperuricaemic nephropathy | Renin associated familial juvenile hyperuricemic nephropathy"
BMGC_DS16123,BMG_DS061753,Hyperinsulinism due to UCP2 (uncoupling protein 2) deficiency | Hyperinsulinism due to UCP2 deficiency | Hyperinsulinism due to uncoupling protein 2 deficiency | Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) | hyperinsulinism due to UCP2 deficiency
BMGC_DS16124,BMG_DS061816,Otitis media caused by Streptococcus pneumoniae | Otitis media caused by Streptococcus pneumoniae (disorder) | Streptococcus pneumoniae otitis media
BMGC_DS16125,BMG_DS061928,systemic Epstein-Barr virus positive T-cell lymphoma of childhood
BMGC_DS16126,BMG_DS061970,Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
BMGC_DS16127,BMG_DS061971,Hyperinsulinism due to INSR (insulin receptor) deficiency | Hyperinsulinism due to insulin receptor deficiency | Hyperinsulinism due to insulin receptor deficiency (disorder)
BMGC_DS16128,BMG_DS061972,Hyperinsulinism due to HNF1A deficiency | Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency | Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) | hyperinsulinism due to HNF1A deficiency
BMGC_DS16129,BMG_DS061975,Functional methionine synthase deficiency | Homocystinuria without methylmalonic aciduria | Homocystinuria without methylmalonic aciduria (disorder) | homocystinuria without methylmalonic aciduria
BMGC_DS16130,BMG_DS061977,Familial Alzheimer-like prion disease | Familial Alzheimer-like prion disease (disorder) | familial Alzheimer-like prion disease
BMGC_DS16131,BMG_DS062019,Brain dopamine-serotonin vesicular transport disease | Brain dopamine-serotonin vesicular transport disease (disorder) | brain dopamine-serotonin vesicular transport disease | infantile parkinsonism-dystonia 2
BMGC_DS16132,BMG_DS062023,Bilateral microtia with deafness and cleft palate syndrome | Bilateral microtia with deafness and cleft palate syndrome (disorder)
BMGC_DS16133,BMG_DS062024,CDG2J - carbohydrate deficient glycoprotein syndrome type 2J | COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation | COG4 congenital disorder of glycosylation | COG4-congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type 2j | Carbohydrate deficient glycoprotein syndrome type IIj | Component of oligomeric golgi complex 4 congenital disorder of glycosylation | Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)
BMGC_DS16134,BMG_DS062029,Glycogen storage disease type 15 | Glycogen storage disease type XV | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) | Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
BMGC_DS16135,BMG_DS062037,"Developmental malformation, deafness, dystonia syndrome | Developmental malformation, deafness, dystonia syndrome (disorder)"
BMGC_DS16136,BMG_DS062039,"DEND (developmental delay, epilepsy, neonatal diabetes) syndrome | DEND syndrome | Developmental delay, epilepsy, neonatal diabetes syndrome | Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)"
BMGC_DS16137,BMG_DS062042,Short stature due to primary acid labile subunit deficiency | Short stature due to primary acid labile subunit deficiency (disorder)
BMGC_DS16138,BMG_DS062043,"Short stature, pituitary and cerebellar defect and small sella turcica syndrome | Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)"
BMGC_DS16139,BMG_DS062046,Mendelian susceptibility to mycobacterial disease due to complete IL12B deficiency | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder)
BMGC_DS16140,BMG_DS062051,ATRUS syndrome | Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome | Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder)
BMGC_DS16141,BMG_DS062083,"Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome | OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome | OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema) syndrome | anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"
BMGC_DS16142,BMG_DS062092,Combined oxidative phosphorylation deficiency type 3 | Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder)
BMGC_DS16143,BMG_DS062093,Familial thrombocythaemia | Familial thrombocythemia | Familial thrombocytosis | Familial thrombocytosis (disorder) | Hereditary thrombocythaemia | Hereditary thrombocythemia | familial thrombocytosis
BMGC_DS16144,BMG_DS062094,Combined prosaposin deficiency | Combined saposin deficiency | Encephalopathy due to prosaposin deficiency | Encephalopathy due to prosaposin deficiency (disorder)
BMGC_DS16145,BMG_DS062096,"Ehlers-Danlos syndrome kyphoscoliotic and deafness type | Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency"
BMGC_DS16146,BMG_DS062097,"Ehlers-Danlos syndrome cardiac valvular type | Ehlers-Danlos syndrome cardiac valvular type (disorder) | Ehlers-Danlos syndrome, cardiac valvular type"
BMGC_DS16147,BMG_DS062099,"Cernunnos-XLF deficiency | NHEJ1 (non-homologous end joining factor) syndrome | Severe combined immunodeficiency due to Cernunnos protein deficiency | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)"
BMGC_DS16148,BMG_DS062101,Cathepsin D deficiency | Deficiency of cathepsin D | Deficiency of cathepsin D (disorder)
BMGC_DS16149,BMG_DS062105,3MC syndrome | Craniofacial ulnar renal syndrome | Craniofacial ulnar renal syndrome (disorder)
BMGC_DS16150,BMG_DS062128,Autosomal dominant macrothrombocytopenia | Autosomal dominant macrothrombocytopenia (disorder) | autosomal dominant macrothrombocytopenia
BMGC_DS16151,BMG_DS062129,Attenuated Chédiak-Higashi syndrome | Attenuated Chédiak-Higashi syndrome (disorder) | Atypical Chédiak-Higashi syndrome | attenuated Chédiak-Higashi syndrome
BMGC_DS16152,BMG_DS062132,Deafness and myopia syndrome | Deafness and myopia syndrome (disorder) | High myopia and sensorineural deafness
BMGC_DS16153,BMG_DS062142,Adult-onset autosomal recessive sideroblastic anaemia | Adult-onset autosomal recessive sideroblastic anemia | Adult-onset autosomal recessive sideroblastic anemia (disorder) | GLRX5 (glutaredoxin 5) related sideroblastic anaemia | GLRX5 (glutaredoxin 5) related sideroblastic anemia
BMGC_DS16154,BMG_DS062143,"Adducted thumbs and arthrogryposis syndrome Christian type | Adducted thumbs and arthrogryposis syndrome Christian type (disorder) | adducted thumbs-arthrogryposis syndrome, Christian type"
BMGC_DS16155,BMG_DS062144,Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein | Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
BMGC_DS16156,BMG_DS062165,Autosomal dominant limb girdle muscular dystrophy type 1A | Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) | Limb girdle muscular dystrophy due to myotilin deficiency | Limb-girdle muscular dystrophy 1A myotilin myopathy
BMGC_DS16157,BMG_DS062170,Timothy syndrome type 2 | Timothy syndrome type 2 (disorder)
BMGC_DS16158,BMG_DS062172,Influenza caused by pandemic influenza virus | Influenza caused by pandemic influenza virus (disorder)
BMGC_DS16159,BMG_DS062178,X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness | X-linked auditory neuropathy with peripheral sensory neuropathy type 1 | X-linked hereditary sensory and autonomic neuropathy with deafness | X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | X-linked hereditary sensory and autonomic neuropathy with hearing loss
BMGC_DS16160,BMG_DS062183,Xeroderma pigmentosum and Cockayne syndrome complex | Xeroderma pigmentosum and Cockayne syndrome complex (disorder) | xeroderma pigmentosum-Cockayne syndrome complex
BMGC_DS16161,BMG_DS062191,Multiple epiphyseal dysplasia Al-Gazali type | Multiple epiphyseal dysplasia Al-Gazali type (disorder) | Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome
BMGC_DS16162,BMG_DS062195,8p11.2 deletion syndrome | 8p11.2 deletion syndrome (disorder) | Monosomy 8p11.2
BMGC_DS16163,BMG_DS062197,6q terminal deletion syndrome | 6q terminal deletion syndrome (disorder)
BMGC_DS16164,BMG_DS062198,5q35 microduplication syndrome | 5q35 microduplication syndrome (disorder) | Trisomy 5q35
BMGC_DS16165,BMG_DS062201,5q14.3 microdeletion syndrome | 5q14.3 microdeletion syndrome (disorder) | Monosomy 5q14.3
BMGC_DS16166,BMG_DS062203,2q32q33 microdeletion syndrome | 2q32q33 microdeletion syndrome (disorder) | Monosomy 2q32q33
BMGC_DS16167,BMG_DS062204,2q23.1 microdeletion syndrome | 2q23.1 microdeletion syndrome (disorder) | Monosomy 2q23.1 | Pseudo-Angelman syndrome
BMGC_DS16168,BMG_DS062205,2p21 microdeletion syndrome | 2p21 microdeletion syndrome (disorder) | Monosomy 2p21
BMGC_DS16169,BMG_DS062207,20p12.3 microdeletion syndrome | 20p12.3 microdeletion syndrome (disorder) | Monosomy 20p12.3
BMGC_DS16170,BMG_DS062208,1q44 microdeletion syndrome | 1q44 microdeletion syndrome (disorder) | Monosomy 1q44
BMGC_DS16171,BMG_DS062210,1p21.3 microdeletion syndrome | 1p21.3 microdeletion syndrome (disorder) | Monosomy 1p21.3
BMGC_DS16172,BMG_DS062212,Absence of dermatoglyphics with congenital milia syndrome | Absence of fingerprints with congenital milia syndrome | Absence of fingerprints with congenital milia syndrome (disorder) | Baird syndrome
BMGC_DS16173,BMG_DS062215,17q23.1q23.2 microdeletion syndrome | 17q23.1q23.2 microdeletion syndrome (disorder)
BMGC_DS16174,BMG_DS062226,17p13.3 microduplication syndrome | 17p13.3 microduplication syndrome (disorder) | Trisomy 17p13.3
BMGC_DS16175,BMG_DS062240,Benign concentric annular macular dystrophy | Benign concentric annular macular dystrophy (disorder)
BMGC_DS16176,BMG_DS062242,Autosomal dominant palmoplantar keratoderma and congenital alopecia | Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Palmoplantar keratoderma and congenital alopecia Stevanovic type | autosomal dominant palmoplantar keratoderma and congenital alopecia
BMGC_DS16177,BMG_DS062243,Autosomal dominant focal dystonia DYT25 type | Autosomal dominant focal dystonia DYT25 type (disorder) | dystonia 25
BMGC_DS16178,BMG_DS062244,Autosomal dominant Charcot-Marie-Tooth disease type 2M | Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) | autosomal dominant Charcot-Marie-Tooth disease type 2M
BMGC_DS16179,BMG_DS062245,Autosomal dominant Charcot-Marie-Tooth disease type 2L | Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder)
BMGC_DS16180,BMG_DS062247,Congenital bile acid synthesis defect type 3 | Congenital bile acid synthesis defect type 3 (disorder) | Oxysterol 7-alpha hydroxylase deficiency
BMGC_DS16181,BMG_DS062250,Late-onset junctional epidermolysis bullosa | Late-onset junctional epidermolysis bullosa (disorder) | late-onset junctional epidermolysis bullosa
BMGC_DS16182,BMG_DS062251,Leber plus disease | Leber plus disease (disorder)
BMGC_DS16183,BMG_DS062255,Leucoencephalopathy with metaphyseal chondrodysplasia syndrome | Leukoencephalopathy with metaphyseal chondrodysplasia syndrome | Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)
BMGC_DS16184,BMG_DS062266,Primary ciliary dyskinesia and retinitis pigmentosa syndrome | Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
BMGC_DS16185,BMG_DS062267,Progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome | Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome | Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) | progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
BMGC_DS16186,BMG_DS062268,Primary pigmented nodular adrenocortical disease | Primary pigmented nodular adrenocortical disease (disorder) | primary pigmented nodular adrenocortical disease
BMGC_DS16187,BMG_DS062270,Progressive cavitating leucoencephalopathy | Progressive cavitating leukoencephalopathy | Progressive cavitating leukoencephalopathy (disorder) | progressive cavitating leukoencephalopathy
BMGC_DS16188,BMG_DS062272,Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
BMGC_DS16189,BMG_DS062277,X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
BMGC_DS16190,BMG_DS062282,OPHN1 syndrome | Oligophrenin-1 syndrome | X-linked intellectual disability with cerebellar hypoplasia syndrome | X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)
BMGC_DS16191,BMG_DS062291,"VACTERL syndrome with hydrocephalus | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-oesophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus"
BMGC_DS16192,BMG_DS062292,Uveal coloboma with cleft lip and palate and intellectual disability syndrome | Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)
BMGC_DS16193,BMG_DS062295,X-linked intellectual disability Cantagrel type | X-linked intellectual disability Cantagrel type (disorder)
BMGC_DS16194,BMG_DS062302,"X-linked intellectual disability Van Esch type | X-linked intellectual disability Van Esch type (disorder) | X-linked intellectual disability, van Esch type"
BMGC_DS16195,BMG_DS062305,X-linked intellectual disability Stocco Dos Santos type | X-linked intellectual disability Stocco Dos Santos type (disorder)
BMGC_DS16196,BMG_DS062307,X-linked intellectual disability Siderius type | X-linked intellectual disability Siderius type (disorder)
BMGC_DS16197,BMG_DS062309,Syndromic X-linked intellectual disability type 11 | Syndromic X-linked intellectual disability type 11 (disorder) | X-linked intellectual disability Shashi type
BMGC_DS16198,BMG_DS062312,Chromosome Xq27.3q28 duplication syndrome | Chromosome Xq27.3q28 duplication syndrome (disorder)
BMGC_DS16199,BMG_DS062314,Cataract glaucoma syndrome | Cataract glaucoma syndrome (disorder) | cataract-glaucoma syndrome
BMGC_DS16200,BMG_DS062316,Fried syndrome | Fried syndrome (disorder) | fried syndrome
BMGC_DS16201,BMG_DS062320,12q14 microdeletion syndrome | 12q14 microdeletion syndrome (disorder) | Monosomy 12q14 | Osteopoikilosis with short stature and intellectual disability syndrome
BMGC_DS16202,BMG_DS062323,"Spondyloepiphyseal dysplasia Nishimura type | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) | spondyloepiphyseal dysplasia, nishimura type"
BMGC_DS16203,BMG_DS062325,lissencephaly due to TUBA1A mutation
BMGC_DS16204,BMG_DS062326,"Isolated autosomal dominant hypomagnesaemia Glaudemans type | Isolated autosomal dominant hypomagnesemia Glaudemans type | Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) | isolated autosomal dominant hypomagnesemia, Glaudemans type"
BMGC_DS16205,BMG_DS062330,15q14 microdeletion syndrome | 15q14 microdeletion syndrome (disorder) | Monosomy 15q14
BMGC_DS16206,BMG_DS062331,14q12 microdeletion syndrome | 14q12 microdeletion syndrome (disorder) | Monosomy 14q12
BMGC_DS16207,BMG_DS062332,Congenital analbuminaemia | Congenital analbuminemia | Congenital analbuminemia (disorder) | congenital analbuminemia
BMGC_DS16208,BMG_DS062335,Primary immunodeficiency syndrome due to p14 deficiency | Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Primary immunodeficiency syndrome with short stature
BMGC_DS16209,BMG_DS062338,Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)
BMGC_DS16210,BMG_DS062340,Congenital hypothyroidism due to absence of thyroid gland | Congenital hypothyroidism due to absence of thyroid gland (disorder)
BMGC_DS16211,BMG_DS062342,Distal deletion 10q | Distal monosomy 10q | Distal monosomy 10q syndrome | Distal monosomy 10q syndrome (disorder)
BMGC_DS16212,BMG_DS062345,acral self-healing collodion baby
BMGC_DS16213,BMG_DS062348,Moyamoya disease with early onset achalasia | Moyamoya disease with early onset achalasia (disorder)
BMGC_DS16214,BMG_DS062352,Radial Neuropathy | Wartenberg Syndrome
BMGC_DS16215,BMG_DS062410,Multi-Drug Resistant Nephrotic Syndrome | Nephrotic Syndrome
BMGC_DS16216,BMG_DS062420,"Atypical MRKH (Mayer Rokitansky Kuster Hauser) syndrome | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) | Mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome"
BMGC_DS16217,BMG_DS062428,"Hypercalcemia, Infantile, 1 | hypercalcemia, infantile, 1"
BMGC_DS16218,BMG_DS062429,"Hypercalcemia, infantile, 2 | hypercalcemia, infantile, 2"
BMGC_DS16219,BMG_DS062431,"Infantile-onset periodic fever, panniculitis, dermatosis syndrome | OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome | OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome | OTULIN-related autoinflammatory syndrome | Otulipenia | infantile-onset periodic fever-panniculitis-dermatosis syndrome"
BMGC_DS16220,BMG_DS062432,"ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE | ectodermal dysplasia 12 | ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type"
BMGC_DS16221,BMG_DS062433,INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS | intellectual developmental disorder with dysmorphic facies and ptosis
BMGC_DS16222,BMG_DS062434,"HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME | hypotonia, ataxia, and delayed development syndrome"
BMGC_DS16223,BMG_DS062435,"intellectual disability, autosomal recessive 59"
BMGC_DS16224,BMG_DS062436,NOD2 (nucleotide binding oligomerization domain containing 2) associated autoinflammatory disease | NOD2-associated autoinflammatory disease | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder) | Yao syndrome
BMGC_DS16225,BMG_DS062437,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 | ichthyosis, congenital, autosomal recessive 12"
BMGC_DS16226,BMG_DS062438,anterior segment dysgenesis 8
BMGC_DS16227,BMG_DS062439,ANTERIOR SEGMENT DYSGENESIS 6 | anterior segment dysgenesis 6
BMGC_DS16228,BMG_DS062440,"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 | congenital bile acid synthesis defect 6"
BMGC_DS16229,BMG_DS062441,"COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS | coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness"
BMGC_DS16230,BMG_DS062442,RETINITIS PIGMENTOSA 77 | retinitis pigmentosa 77
BMGC_DS16231,BMG_DS062443,MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME | mucopolysaccharidosis-plus syndrome
BMGC_DS16232,BMG_DS062444,OPTIC ATROPHY 11 | optic atrophy 11
BMGC_DS16233,BMG_DS062445,LYMPHATIC MALFORMATION 7 | central conducting lymphatic anomaly | lymphatic malformation 7
BMGC_DS16234,BMG_DS062446,"amelogenesis imperfecta, type 1J"
BMGC_DS16235,BMG_DS062447,"EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY | epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"
BMGC_DS16236,BMG_DS062448,"EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT | early-onset vitamin B6-dependent epilepsy 1 | epilepsy, early-onset, vitamin B6-dependent"
BMGC_DS16237,BMG_DS062449,"DYT28 - dystonia 28 | Dystonia 28 | Dystonia 28 (disorder) | KMT2B-related dystonia | Lysine methyltransferase 2B-related dystonia | dystonia 28, childhood-onset"
BMGC_DS16238,BMG_DS062450,"Autosomal recessive childhood-onset dystonia DYT29 type | Childhood-onset generalised dystonia, optic atrophy syndrome | Childhood-onset generalized dystonia, optic atrophy syndrome | DYT29 - dystonia 29 | MEPAN syndrome | Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) | dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"
BMGC_DS16239,BMG_DS062451,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49 | developmental and epileptic encephalopathy 49 | developmental and epileptic encephalopathy, 49"
BMGC_DS16240,BMG_DS062452,"ATRIAL FIBRILLATION, FAMILIAL, 18 | atrial fibrillation, familial, 18"
BMGC_DS16241,BMG_DS062453,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48 | developmental and epileptic encephalopathy 48 | developmental and epileptic encephalopathy, 48"
BMGC_DS16242,BMG_DS062454,"tooth agenesis, selective, 9"
BMGC_DS16243,BMG_DS062455,"GLAUCOMA 3, PRIMARY CONGENITAL, E | glaucoma 3, primary congenital, E"
BMGC_DS16244,BMG_DS062456,NEPHRONOPHTHISIS 20 | nephronophthisis 20
BMGC_DS16245,BMG_DS062457,"intellectual disability, autosomal recessive 58"
BMGC_DS16246,BMG_DS062458,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE | neurodevelopmental disorder with hypotonia, seizures, and absent language"
BMGC_DS16247,BMG_DS062459,"GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES | global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies"
BMGC_DS16248,BMG_DS062460,"MYOPATHY, MYOFIBRILLAR, 8 | myofibrillar myopathy 8"
BMGC_DS16249,BMG_DS062461,LISSENCEPHALY 8 | lissencephaly 8
BMGC_DS16250,BMG_DS062462,SECKEL SYNDROME 10 | Seckel syndrome 10
BMGC_DS16251,BMG_DS062463,UNCOMBABLE HAIR SYNDROME 3 | uncombable hair syndrome 3
BMGC_DS16252,BMG_DS062464,UNCOMBABLE HAIR SYNDROME 2 | uncombable hair syndrome 2
BMGC_DS16253,BMG_DS062465,"3-METHYLGLUTACONIC ACIDURIA, TYPE VIII | 3-methylglutaconic aciduria type 8"
BMGC_DS16254,BMG_DS062466,"FANCONI ANEMIA, COMPLEMENTATION GROUP U | Fanconi anemia complementation group U"
BMGC_DS16255,BMG_DS062467,"FANCONI ANEMIA, COMPLEMENTATION GROUP V | Fanconi anemia complementation group V"
BMGC_DS16256,BMG_DS062468,"LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME | lung disease, immunodeficiency, and chromosome breakage syndrome;"
BMGC_DS16257,BMG_DS062469,"MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC | congenital myasthenic syndrome 21"
BMGC_DS16258,BMG_DS062470,"MYOPIA 25, AUTOSOMAL DOMINANT | myopia 25, autosomal dominant"
BMGC_DS16259,BMG_DS062471,IMMUNODEFICIENCY 49 | immunodeficiency 49
BMGC_DS16260,BMG_DS062472,"MYOCLONUS, INTRACTABLE, NEONATAL | myoclonus, intractable, neonatal"
BMGC_DS16261,BMG_DS062473,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16
BMGC_DS16262,BMG_DS062474,Autosomal recessive limb girdle muscular dystrophy type 2Z | Limb girdle muscular dystrophy type 2Z | POGLUT1-related limb girdle muscular dystrophy R21 | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) | autosomal recessive limb-girdle muscular dystrophy type 2R1
BMGC_DS16263,BMG_DS062475,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 | combined oxidative phosphorylation deficiency 31 | lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
BMGC_DS16264,BMG_DS062476,"SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED | sudden cardiac failure, alcohol-induced"
BMGC_DS16265,BMG_DS062477,"SUDDEN CARDIAC FAILURE, INFANTILE | sudden cardiac failure, infantile"
BMGC_DS16266,BMG_DS062478,"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 | amelogenesis imperfecta type 2A6 | amelogenesis imperfecta, hypomaturation type, IIa6"
BMGC_DS16267,BMG_DS062479,SPERMATOGENIC FAILURE 17 | spermatogenic failure 17
BMGC_DS16268,BMG_DS062480,"ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY | encephalopathy, progressive, with amyotrophy and optic atrophy"
BMGC_DS16269,BMG_DS062481,"HETEROTAXY, VISCERAL, 8, AUTOSOMAL | heterotaxy, visceral, 8, autosomal"
BMGC_DS16270,BMG_DS062482,PERIVENTRICULAR NODULAR HETEROTOPIA 7 | periventricular nodular heterotopia 7
BMGC_DS16271,BMG_DS062483,LETHAL CONGENITAL CONTRACTURE SYNDROME 11 | lethal congenital contracture syndrome 11
BMGC_DS16272,BMG_DS062484,SHASHI-PENA SYNDROME | Shashi-Pena syndrome
BMGC_DS16273,BMG_DS062485,"intellectual disability, autosomal recessive 57"
BMGC_DS16274,BMG_DS062486,SPERMATOGENIC FAILURE 16 | spermatogenic failure 16
BMGC_DS16275,BMG_DS062487,"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY | encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1"
BMGC_DS16276,BMG_DS062488,"MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT | mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | mitochondrial DNA depletion syndrome 12a"
BMGC_DS16277,BMG_DS062489,"Harel Yoon syndrome | Harel-Yoon syndrome | Ocular anomalies, axonal neuropathy, developmental delay syndrome | Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)"
BMGC_DS16278,BMG_DS062490,"LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT CARDIAC ARRHYTHMIA | language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia"
BMGC_DS16279,BMG_DS062491,CHITAYAT SYNDROME | Chitayat syndrome
BMGC_DS16280,BMG_DS062492,RCBTB1-related retinopathy | RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
BMGC_DS16281,BMG_DS062493,"EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 | Ehlers-Danlos syndrome periodontal type 2 | Ehlers-Danlos syndrome, periodontal type 2"
BMGC_DS16282,BMG_DS062494,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES | intellectual disability-epilepsy-extrapyramidal syndrome
BMGC_DS16283,BMG_DS062495,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 74 | Sotos syndrome 3 | autosomal recessive intellectual developmental disorder 74 | intellectual developmental disorder, autosomal recessive 74"
BMGC_DS16284,BMG_DS062496,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 | developmental and epileptic encephalopathy 47 | developmental and epileptic encephalopathy, 47"
BMGC_DS16285,BMG_DS062497,"SHORT STATURE-MICROGNATHIA SYNDROME | short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay"
BMGC_DS16286,BMG_DS062498,"developmental and epileptic encephalopathy, 46"
BMGC_DS16287,BMG_DS062499,SIFRIM-HITZ-WEISS SYNDROME | Sifrim-Hitz-Weiss syndrome
BMGC_DS16288,BMG_DS062500,"SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | short stature-brachydactyly-obesity-global developmental delay syndrome"
BMGC_DS16289,BMG_DS062501,MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) | mitochondrial DNA depletion syndrome 15 | mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
BMGC_DS16290,BMG_DS062502,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 | developmental and epileptic encephalopathy 45 | developmental and epileptic encephalopathy, 45"
BMGC_DS16291,BMG_DS062503,"ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH | arthrogryposis, distal, with impaired proprioception and touch"
BMGC_DS16292,BMG_DS062504,"NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET | neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset"
BMGC_DS16293,BMG_DS062505,"MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC | congenital myasthenic syndrome 20"
BMGC_DS16294,BMG_DS062506,aniridia 3
BMGC_DS16295,BMG_DS062507,"Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder) | ZTTK syndrome | Zhu Tokita Takenouchi Kim syndrome"
BMGC_DS16296,BMG_DS062508,FRONTOMETAPHYSEAL DYSPLASIA 2 | frontometaphyseal dysplasia 2
BMGC_DS16297,BMG_DS062509,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 | autosomal recessive spinocerebellar ataxia 24 | spinocerebellar ataxia, autosomal recessive 24"
BMGC_DS16298,BMG_DS062510,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44 | developmental and epileptic encephalopathy 44 | developmental and epileptic encephalopathy, 44"
BMGC_DS16299,BMG_DS062511,OROFACIODIGITAL SYNDROME XV | orofaciodigital syndrome XV
BMGC_DS16300,BMG_DS062512,ALAZAMI-YUAN SYNDROME | Alazami-Yuan syndrome
BMGC_DS16301,BMG_DS062513,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56 | autosomal recessive intellectual developmental disorder 56 | intellectual disability, autosomal recessive 56"
BMGC_DS16302,BMG_DS062514,RETINITIS PIGMENTOSA 76 | retinitis pigmentosa 76
BMGC_DS16303,BMG_DS062515,JOUBERT SYNDROME 28 | Joubert syndrome 28
BMGC_DS16304,BMG_DS062516,JOUBERT SYNDROME 27 | Joubert syndrome 27
BMGC_DS16305,BMG_DS062517,BARDET-BIEDL SYNDROME 20 | Bardet-Biedl syndrome 20
BMGC_DS16306,BMG_DS062518,"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 | epilepsy, familial focal, with variable foci 3 | familial focal epilepsy with variable foci 3"
BMGC_DS16307,BMG_DS062519,"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 | epilepsy, familial focal, with variable foci 2 | familial focal epilepsy with variable foci 2"
BMGC_DS16308,BMG_DS062520,PEELING SKIN SYNDROME 5 | peeling skin syndrome 5
BMGC_DS16309,BMG_DS062521,"MYOPATHY, MYOFIBRILLAR, 7 | myofibrillar myopathy 7"
BMGC_DS16310,BMG_DS062522,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 | developmental and epileptic encephalopathy 43 | developmental and epileptic encephalopathy, 43"
BMGC_DS16311,BMG_DS062523,MCRPE - Martinique crinkled retinal pigment epitheliopathy | Martinique crinkled retinal pigment epitheliopathy | Martinique crinkled retinal pigment epitheliopathy (disorder) | patterned macular dystrophy 3
BMGC_DS16312,BMG_DS062524,sessile serrated polyposis cancer syndrome
BMGC_DS16313,BMG_DS062525,"Tall stature, intellectual disability, renal anomalies syndrome | Tall stature, intellectual disability, renal anomalies syndrome (disorder) | Thauvin Robinet Faivre syndrome | tall stature-intellectual disability-renal anomalies syndrome"
BMGC_DS16314,BMG_DS062526,"developmental and epileptic encephalopathy, 42"
BMGC_DS16315,BMG_DS062527,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 | developmental and epileptic encephalopathy 41 | developmental and epileptic encephalopathy, 41"
BMGC_DS16316,BMG_DS062528,SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 16 with or without polydactyly
BMGC_DS16317,BMG_DS062529,FAMILIAL ADENOMATOUS POLYPOSIS 4 | familial adenomatous polyposis 4
BMGC_DS16318,BMG_DS062530,"GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY | growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy"
BMGC_DS16319,BMG_DS062531,"CILIARY DYSKINESIA, PRIMARY, 35 | primary ciliary dyskinesia 35"
BMGC_DS16320,BMG_DS062532,"CILIARY DYSKINESIA, PRIMARY, 34 | primary ciliary dyskinesia 34"
BMGC_DS16321,BMG_DS062533,"MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 17, primary, autosomal recessive | primary autosomal recessive microcephaly 17"
BMGC_DS16322,BMG_DS062534,SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY | short-rib thoracic dysplasia 15 with polydactyly
BMGC_DS16323,BMG_DS062535,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B | Charcot-Marie-Tooth disease type 2A2B | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;"
BMGC_DS16324,BMG_DS062536,ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 | encephalopathy due to defective mitochondrial and peroxisomal fission 2
BMGC_DS16325,BMG_DS062537,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa | congenital disorder of glycosylation Iaa | congenital disorder of glycosylation, type IAA"
BMGC_DS16326,BMG_DS062538,"SEIZURES, BENIGN FAMILIAL INFANTILE, 5 | benign familial infantile seizures 5 | seizures, benign familial infantile, 5"
BMGC_DS16327,BMG_DS062539,"nasopharyngeal carcinoma, susceptibility to, 3"
BMGC_DS16328,BMG_DS062540,"TOOTH AGENESIS, SELECTIVE, 8 | tooth agenesis, selective, 8"
BMGC_DS16329,BMG_DS062541,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4"
BMGC_DS16330,BMG_DS062542,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3"
BMGC_DS16331,BMG_DS062543,"PORTAL HYPERTENSION, NONCIRRHOTIC, 1 | portal hypertension, noncirrhotic"
BMGC_DS16332,BMG_DS062544,"Congenital muscular dystrophy Davignon Chauveau type | Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome | Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) | congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome"
BMGC_DS16333,BMG_DS062545,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 | developmental and epileptic encephalopathy 40 | developmental and epileptic encephalopathy, 40"
BMGC_DS16334,BMG_DS062546,MEIER-GORLIN SYNDROME 7 | Meier-Gorlin syndrome 7
BMGC_DS16335,BMG_DS062547,OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME | Okur-Chung neurodevelopmental syndrome
BMGC_DS16336,BMG_DS062548,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY | autosomal dominant intellectual developmental disorder 44 | micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"
BMGC_DS16337,BMG_DS062549,"TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 | hyperuricemic nephropathy, familial juvenile type 4"
BMGC_DS16338,BMG_DS062550,PERCHING SYNDROME | PERCHING syndrome | cold-induced sweating syndrome 3
BMGC_DS16339,BMG_DS062551,"Childhood-onset basal ganglia degeneration syndrome | Childhood-onset basal ganglia degeneration syndrome (disorder) | Lenk Ploski syndrome | striatonigral degeneration, childhood-onset"
BMGC_DS16340,BMG_DS062552,BONE MARROW FAILURE SYNDROME 3 | bone marrow failure syndrome 3
BMGC_DS16341,BMG_DS062553,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE | severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
BMGC_DS16342,BMG_DS062554,HERMANSKY-PUDLAK SYNDROME 10 | Hermansky-Pudlak syndrome 10
BMGC_DS16343,BMG_DS062555,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 | cholestasis, progressive familial intrahepatic, 5 | progressive familial intrahepatic cholestasis 5"
BMGC_DS16344,BMG_DS062556,"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5 | cardiomyopathy, familial restrictive, 5 | hypertrophic cardiomyopathy 26"
BMGC_DS16345,BMG_DS062557,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 | hypertrophic cardiomyopathy 26"
BMGC_DS16346,BMG_DS062558,DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS | Duane retraction syndrome 3 with or without deafness
BMGC_DS16347,BMG_DS062559,patent ductus arteriosus 3
BMGC_DS16348,BMG_DS062560,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 54 | autosomal recessive intellectual developmental disorder 54 | intellectual disability, autosomal recessive 54"
BMGC_DS16349,BMG_DS062561,"HYPERALDOSTERONISM, FAMILIAL, TYPE IV | hyperaldosteronism, familial, type IV"
BMGC_DS16350,BMG_DS062562,"PONTOCEREBELLAR HYPOPLASIA, TYPE 2F | pontocerebellar hypoplasia type 2F | pontocerebellar hypoplasia, type 2F"
BMGC_DS16351,BMG_DS062563,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H | congenital stationary night blindness 1H"
BMGC_DS16352,BMG_DS062564,RETINITIS PIGMENTOSA 75 | retinitis pigmentosa 75
BMGC_DS16353,BMG_DS062565,"Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome | Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"
BMGC_DS16354,BMG_DS062566,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 | developmental and epileptic encephalopathy 38 | developmental and epileptic encephalopathy, 38"
BMGC_DS16355,BMG_DS062567,SPINOCEREBELLAR ATAXIA 43 | cerebellar ataxia type 43 | spinocerebellar ataxia 43
BMGC_DS16356,BMG_DS062568,"NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE | autosomal recessive severe congenital neutropenia due to CSF3R deficiency | severe congenital neutropenia 7"
BMGC_DS16357,BMG_DS062569,HMNDYT2 - hypermanganesemia with dystonia 2 | Hypermanganesemia with dystonia 2 | Hypermanganesemia with dystonia 2 (disorder) | hypermanganesemia with dystonia 2
BMGC_DS16358,BMG_DS062570,"MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION | macrocephaly, dysmorphic facies, and psychomotor retardation"
BMGC_DS16359,BMG_DS062571,"CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 | cerebral palsy, spastic quadriplegic, 3 | spastic quadriplegic cerebral palsy 3"
BMGC_DS16360,BMG_DS062572,"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 | autoimmune disease, multisystem, infantile-onset, 2"
BMGC_DS16361,BMG_DS062573,POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | polycystic liver disease 2
BMGC_DS16362,BMG_DS062574,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 | developmental and epileptic encephalopathy 37 | developmental and epileptic encephalopathy, 37"
BMGC_DS16363,BMG_DS062575,"intellectual disability, autosomal dominant 43"
BMGC_DS16364,BMG_DS062576,"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART | neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"
BMGC_DS16365,BMG_DS062577,"intellectual disability, autosomal dominant 42"
BMGC_DS16366,BMG_DS062578,"DEAFNESS, AUTOSOMAL DOMINANT 70 | autosomal dominant nonsyndromic hearing loss 70"
BMGC_DS16367,BMG_DS062579,RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS | retinitis pigmentosa and erythrocytic microcytosis
BMGC_DS16368,BMG_DS062580,"TELO2-related intellectual disability, neurodevelopmental disorder | TELO2-related intellectual disability-neurodevelopmental disorder | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | You Hoover Fong syndrome"
BMGC_DS16369,BMG_DS062581,SPERMATOGENIC FAILURE 15 | spermatogenic failure 15
BMGC_DS16370,BMG_DS062582,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 | autosomal recessive spinocerebellar ataxia 22 | spinocerebellar ataxia, autosomal recessive 22"
BMGC_DS16371,BMG_DS062583,PREMATURE OVARIAN FAILURE 12 | premature ovarian failure 12 | primary ovarian insufficiency 12
BMGC_DS16372,BMG_DS062584,PREMATURE OVARIAN FAILURE 11 | premature ovarian failure 11 | primary ovarian insufficiency 11
BMGC_DS16373,BMG_DS062585,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41 | autosomal dominant intellectual developmental disorder 41 | intellectual disability, autosomal dominant 41"
BMGC_DS16374,BMG_DS062586,"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE | nonphotosensitive trichothiodystrophy 6 | trichothiodystrophy 6, nonphotosensitive"
BMGC_DS16375,BMG_DS062587,"AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | agammaglobulinemia 8, autosomal dominant | agammaglobulinemia 8A"
BMGC_DS16376,BMG_DS062588,"CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION | chorea, childhood-onset, with psychomotor retardation"
BMGC_DS16377,BMG_DS062589,COFFIN-SIRIS SYNDROME 5 | Coffin-Siris syndrome 5
BMGC_DS16378,BMG_DS062590,THROMBOCYTOPENIA 6 | thrombocytopenia 6
BMGC_DS16379,BMG_DS062591,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC | Charcot-Marie-Tooth disease axonal type 2CC"
BMGC_DS16380,BMG_DS062592,"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 | striatal degeneration 2 | striatal degeneration, autosomal dominant 2"
BMGC_DS16381,BMG_DS062593,HEART AND BRAIN MALFORMATION SYNDROME | heart and brain malformation syndrome
BMGC_DS16382,BMG_DS062594,"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY | intellectual disability, autosomal recessive 53"
BMGC_DS16383,BMG_DS062595,MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | progeroid and marfanoid aspect-lipodystrophy syndrome
BMGC_DS16384,BMG_DS062596,"BLEEDING DISORDER, PLATELET-TYPE, 20 | platelet-type bleeding disorder 20"
BMGC_DS16385,BMG_DS062597,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 | immunodeficiency-centromeric instability-facial anomalies syndrome 4
BMGC_DS16386,BMG_DS062598,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 | immunodeficiency-centromeric instability-facial anomalies syndrome 3
BMGC_DS16387,BMG_DS062599,"Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Developmental delay, short stature, dysmorphic features, sparse hair syndrome | Loucks Innes syndrome | developmental delay with short stature, dysmorphic facial features, and sparse hair"
BMGC_DS16388,BMG_DS062600,"PARKINSON DISEASE 19B, EARLY-ONSET | parkinson disease 19B, early-onset"
BMGC_DS16389,BMG_DS062601,IMMUNODEFICIENCY 51 | immunodeficiency 51
BMGC_DS16390,BMG_DS062602,SIN3A (Switch-insensitive 3 transcription regulator family member A)-related intellectual disability syndrome | SIN3A-related intellectual disability syndrome | SIN3A-related intellectual disability syndrome due to a point mutation | WITKOS - Witteveen Kolk syndrome | Witteveen Kolk syndrome | Witteveen Kolk syndrome (disorder)
BMGC_DS16391,BMG_DS062603,"BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS | Bartter disease type 4B"
BMGC_DS16392,BMG_DS062604,CATARACT 47 | cataract 47 | juvenile cataract-microcornea-renal glucosuria syndrome
BMGC_DS16393,BMG_DS062605,BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME | brachydactyly-syndactyly-oligodactyly syndrome
BMGC_DS16394,BMG_DS062606,"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 | autosomal dominant striatal neurodegeneration type 1"
BMGC_DS16395,BMG_DS062607,ANTERIOR SEGMENT DYSGENESIS 5 | anterior segment dysgenesis 5
BMGC_DS16396,BMG_DS062608,"MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS | midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"
BMGC_DS16397,BMG_DS062609,MEESTER-LOEYS SYNDROME | Meester-Loeys syndrome
BMGC_DS16398,BMG_DS062610,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE | intellectual disability, X-linked, syndromic, Bain type | syndromic X-linked intellectual developmental disorder bain type"
BMGC_DS16399,BMG_DS062611,"VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED | X-linked congenital bilateral absence of vas deferens | vas deferens, congenital bilateral aplasia of, X-linked"
BMGC_DS16400,BMG_DS062612,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105 | intellectual disability, X-linked 105 | non-syndromic X-linked intellectual disability 105"
BMGC_DS16401,BMG_DS062613,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104 | intellectual disability, X-linked 104 | non-syndromic X-linked intellectual disability 104"
BMGC_DS16402,BMG_DS062614,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103 | intellectual disability, X-linked 103 | non-syndromic X-linked intellectual disability 103"
BMGC_DS16403,BMG_DS062615,IMMUNODEFICIENCY 47 | immunodeficiency 47
BMGC_DS16404,BMG_DS062616,"BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT | Bartter disease type 5"
BMGC_DS16405,BMG_DS062617,LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY | myopathy with abnormal lipid metabolism
BMGC_DS16406,BMG_DS062618,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR"
BMGC_DS16407,BMG_DS062619,"antisocial behavior, susceptibility to"
BMGC_DS16408,BMG_DS062620,Dias-Logan syndrome
BMGC_DS16409,BMG_DS062621,"ALACRIMA, CONGENITAL, AUTOSOMAL DOMINANT | alacrima, congenital, autosomal dominant"
BMGC_DS16410,BMG_DS062622,"SANDHOFF DISEASE, CHRONIC"
BMGC_DS16411,BMG_DS062627,DUANE RETRACTION SYNDROME 3
BMGC_DS16412,BMG_DS062636,"BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF"
BMGC_DS16413,BMG_DS062637,"GM2-GANGLIOSIDOSIS, ADULT-ONSET"
BMGC_DS16414,BMG_DS062647,"ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES"
BMGC_DS16415,BMG_DS062657,GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE | atypical glycine encephalopathy
BMGC_DS16416,BMG_DS062663,"BETA-THALASSEMIA, ASHKENAZI JEWISH TYPE"
BMGC_DS16417,BMG_DS062664,"BETA-THALASSEMIA INTERMEDIA, DOMINANT"
BMGC_DS16418,BMG_DS062668,"CHROMOSOME 19q13.11 DELETION SYNDROME, PROXIMAL | chromosome 19q13.11 deletion syndrome, proximal"
BMGC_DS16419,BMG_DS062669,"CHROMOSOME 11p13 DELETION SYNDROME, DISTAL | chromosome 11p13 deletion syndrome, distal"
BMGC_DS16420,BMG_DS062670,"CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL | chromosome 19q13.11 deletion syndrome, distal"
BMGC_DS16421,BMG_DS062671,CHROMOSOME Xq25 DUPLICATION SYNDROME | Xq25 microduplication syndrome
BMGC_DS16422,BMG_DS062677,Nocturnal frontal lobe epilepsy | sleep-related hypermotor epilepsy
BMGC_DS16423,BMG_DS062701,brachydactyly type E
BMGC_DS16424,BMG_DS062793,"Kenny-Caffey syndrome, type 2 | autosomal dominant Kenny-Caffey syndrome"
BMGC_DS16425,BMG_DS062794,partial lipodystrophy
BMGC_DS16426,BMG_DS062796,Entamoeba histolytica Infection | Entamoebiasis
BMGC_DS16427,BMG_DS062799,Dystonic Disorders | Writer's Cramp
BMGC_DS16428,BMG_DS062800,Afibrinogenemia | Fibrinogen Deficiency
BMGC_DS16429,BMG_DS062802,eye disorder
BMGC_DS16430,BMG_DS062806,Cystine diathesis | Cystine disease | Cystine storage disease | Cystinosis | Cystinosis (disorder) | Lignac-Fanconi syndrome | cystinosis
BMGC_DS16431,BMG_DS062807,Absence Seizures | Seizures
BMGC_DS16432,BMG_DS062811,Hypothyroidism | Primary Hypothyroidism
BMGC_DS16433,BMG_DS062812,Diverticular Diseases
BMGC_DS16434,BMG_DS062813,Bulldog syndrome | Simpson-Golabi-Behmel syndrome | Simpson-Golabi-Behmel syndrome (disorder)
BMGC_DS16435,BMG_DS062816,thyroid gland disorder
BMGC_DS16436,BMG_DS062817,Epileptic Seizures | Seizures
BMGC_DS16437,BMG_DS062819,Kartagener Syndrome | Kartagener syndrome | Polynesian Bronchiectasis
BMGC_DS16438,BMG_DS062820,Niacin deficiency | Niacin deficiency (disorder) | Nicotinamide deficiency | Nicotinic acid deficiency | Pellagra | Pellagra (disorder) | Vitamin B3 deficiency | Vitamin PP deficiency
BMGC_DS16439,BMG_DS062821,"HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome | HLTRS (hypotrichosis, lymphoedema, telangiectasia, renal defect) syndrome | Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome | Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"
BMGC_DS16440,BMG_DS062823,COLE-CARPENTER SYNDROME 1 | Cole-Carpenter syndrome 1
BMGC_DS16441,BMG_DS062824,Adolescent Obesity | Pediatric Obesity
BMGC_DS16442,BMG_DS062826,Congenital disorder of glycosylation type 1q | Congenital disorder of glycosylation type 1q (disorder) | Congenital disorder of glycosylation type Iq | SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation | SRD5A3-congenital disorder of glycosylation
BMGC_DS16443,BMG_DS062827,"ALG13-CDG (congenital disorder of glycosylation) | Congenital disorder of glycosylation type 1s | Congenital disorder of glycosylation type 1s (disorder) | Congenital disorder of glycosylation type Is | developmental and epileptic encephalopathy, 36"
BMGC_DS16444,BMG_DS062829,Factor V deficiency | Factor V deficiency (disorder) | factor V deficiency
BMGC_DS16445,BMG_DS062830,"Epilepsy, Absence | Juvenile Absence Epilepsy | absence epilepsy | juvenile absence epilepsy"
BMGC_DS16446,BMG_DS062831,growth hormone insensitivity syndrome
BMGC_DS16447,BMG_DS062840,BARDET-BIEDL SYNDROME 21 | Bardet-Biedl syndrome 21 | bardet-biedl syndrome 21
BMGC_DS16448,BMG_DS062841,cleft lip
BMGC_DS16449,BMG_DS062857,11-beta-hydroxysteroid dehydrogenase deficiency type 1 | Hyperandrogenism due to cortisone reductase deficiency | Hyperandrogenism due to cortisone reductase deficiency (disorder)
BMGC_DS16450,BMG_DS062860,acute myeloid leukemia with CBFA2T3-GLIS2 fusion
BMGC_DS16451,BMG_DS062864,"Autosomal recessive infantile hypercalcaemia | Autosomal recessive infantile hypercalcemia | Autosomal recessive infantile hypercalcemia (disorder) | Familial infantile hypercalcaemia with suppressed intact parathyroid hormone | Familial infantile hypercalcemia with suppressed intact parathyroid hormone | hypercalcemia, infantile"
BMGC_DS16452,BMG_DS062871,early T cell progenitor acute lymphoblastic leukemia
BMGC_DS16453,BMG_DS062883,rosette-forming glioneuronal tumor of fourth ventricule
BMGC_DS16454,BMG_DS062888,atrial septal aneurysm
BMGC_DS16455,BMG_DS062893,"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED | ciliary dyskinesia, primary, 36, X-linked | primary ciliary dyskinesia 36"
BMGC_DS16456,BMG_DS062894,"intellectual disability, X-linked 106"
BMGC_DS16457,BMG_DS062895,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35 | intellectual disability, X-linked, syndromic, 35 | syndromic X-linked mental retardation 35"
BMGC_DS16458,BMG_DS062901,NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 | Noonan syndrome-like disorder with loose anagen hair 1
BMGC_DS16459,BMG_DS062903,brain malformations with or without urinary tract defects
BMGC_DS16460,BMG_DS062904,"MYASTHENIC SYNDROME, CONGENITAL, 22 | congenital myasthenic syndrome 22 | myasthenic syndrome, congenital, 22"
BMGC_DS16461,BMG_DS062906,CONGENITAL MYOPATHY 24 | MYPN-related myopathy | nemaline myopathy 11
BMGC_DS16462,BMG_DS062907,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51 | developmental and epileptic encephalopathy 51 | developmental and epileptic encephalopathy, 51"
BMGC_DS16463,BMG_DS062908,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 | cerebroretinal microangiopathy with calcifications and cysts 2
BMGC_DS16464,BMG_DS062909,HYPERPARATHYROIDISM 4 | hyperparathyroidism 4
BMGC_DS16465,BMG_DS062910,"aortic aneurysm, familial thoracic 11, susceptibility to"
BMGC_DS16466,BMG_DS062911,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52 | developmental and epileptic encephalopathy 52 | developmental and epileptic encephalopathy, 52"
BMGC_DS16467,BMG_DS062912,"CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER | congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"
BMGC_DS16468,BMG_DS062913,CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA | congenital heart defects and ectodermal dysplasia
BMGC_DS16469,BMG_DS062914,PEROXISOME BIOGENESIS DISORDER 10B | Peroxisome biogenesis disorder 10B | peroxisome biogenesis disorder 10B
BMGC_DS16470,BMG_DS062915,"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 | avascular necrosis of femoral head, primary, 2"
BMGC_DS16471,BMG_DS062916,"HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT | hyperphenylalaninemia due to DNAJC12 deficiency"
BMGC_DS16472,BMG_DS062917,AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS | autoinflammation with arthritis and dyskeratosis
BMGC_DS16473,BMG_DS062918,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 | developmental and epileptic encephalopathy 53 | developmental and epileptic encephalopathy, 53"
BMGC_DS16474,BMG_DS062919,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 | developmental and epileptic encephalopathy 54 | developmental and epileptic encephalopathy, 54"
BMGC_DS16475,BMG_DS062920,"ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE | ectodermal dysplasia 13 | ectodermal dysplasia 13, hair/tooth type"
BMGC_DS16476,BMG_DS062921,"NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION | neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"
BMGC_DS16477,BMG_DS062922,"SCLEROSING CHOLANGITIS, NEONATAL | isolated neonatal sclerosing cholangitis"
BMGC_DS16478,BMG_DS062923,"COG2-CDG - component of oligomeric golgi complex 2 - congenital disorder of glycosylation | COG2-related congenital disorder of glycosylation | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation (disorder) | congenital disorder of glycosylation, type IIq"
BMGC_DS16479,BMG_DS062924,ANAUXETIC DYSPLASIA 2 | anauxetic dysplasia 2
BMGC_DS16480,BMG_DS062925,PSEUDO-TORCH SYNDROME 2 | pseudo-TORCH syndrome 2
BMGC_DS16481,BMG_DS062926,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | autosomal recessive cutis laxa type 2C"
BMGC_DS16482,BMG_DS062927,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | autosomal recessive cutis laxa type 2D"
BMGC_DS16483,BMG_DS062928,"MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY | congenital muscular dystrophy with cataracts and intellectual disability"
BMGC_DS16484,BMG_DS062929,SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 17 with or without polydactyly
BMGC_DS16485,BMG_DS062930,DIAMOND-BLACKFAN ANEMIA 16 | Diamond-Blackfan anemia 16
BMGC_DS16486,BMG_DS062931,DIAMOND-BLACKFAN ANEMIA 17 | Diamond-Blackfan anemia 17
BMGC_DS16487,BMG_DS062932,"BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY | brachycephaly, trichomegaly, and developmental delay"
BMGC_DS16488,BMG_DS062933,IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES | immunoskeletal dysplasia with neurodevelopmental abnormalities
BMGC_DS16489,BMG_DS062935,"intellectual disability, autosomal recessive 60"
BMGC_DS16490,BMG_DS062936,RETINITIS PIGMENTOSA 78 | retinitis pigmentosa 78
BMGC_DS16491,BMG_DS062937,LOPES-MACIEL-RODAN SYNDROME | Lopes-Maciel-Rodan syndrome
BMGC_DS16492,BMG_DS062938,CRANIOSYNOSTOSIS 7 | craniosynostosis 7
BMGC_DS16493,BMG_DS062939,"THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS | thrombocytopenia, anemia, and myelofibrosis"
BMGC_DS16494,BMG_DS062940,PREMATURE OVARIAN FAILURE 13 | premature ovarian failure 13 | primary ovarian insufficiency 13
BMGC_DS16495,BMG_DS062941,"BLEEDING DISORDER, PLATELET-TYPE, 21 | bleeding disorder, platelet-type, 21"
BMGC_DS16496,BMG_DS062942,JANSEN-DE VRIES SYNDROME | intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
BMGC_DS16497,BMG_DS062943,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES | intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies"
BMGC_DS16498,BMG_DS062944,RETINITIS PIGMENTOSA 79 | retinitis pigmentosa 79
BMGC_DS16499,BMG_DS062945,TOWNES-BROCKS SYNDROME 2 | Townes-Brocks syndrome 2
BMGC_DS16500,BMG_DS062946,"ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT | arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | arthrogryposis multiplex congenita-1"
BMGC_DS16501,BMG_DS062947,SPECIFIC GRANULE DEFICIENCY 2 | specific granule deficiency 2
BMGC_DS16502,BMG_DS062948,STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME | structural heart defects and renal anomalies syndrome
BMGC_DS16503,BMG_DS062949,"46,XX sex reversal 4"
BMGC_DS16504,BMG_DS062950,"PRUNE1-related neurological syndrome | Prune exopolyphosphatase 1-related neurological syndrome | Prune exopolyphosphatase 1-related neurological syndrome (disorder) | neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"
BMGC_DS16505,BMG_DS062951,NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS | neurodevelopmental disorder with involuntary movements
BMGC_DS16506,BMG_DS062952,NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 | Noonan syndrome-like disorder with loose anagen hair 2
BMGC_DS16507,BMG_DS062953,IMMUNODEFICIENCY 52 | immunodeficiency 52 | severe combined immunodeficiency due to LAT deficiency
BMGC_DS16508,BMG_DS062955,STANKIEWICZ-ISIDOR SYNDROME | Stankiewicz-Isidor syndrome
BMGC_DS16509,BMG_DS062956,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS | neurodevelopmental disorder with hypotonia, neuropathy, and deafness"
BMGC_DS16510,BMG_DS062957,"MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT | microcephaly 18, primary, autosomal dominant | primary autosomal dominant microcephaly 18"
BMGC_DS16511,BMG_DS062958,NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS | neurodevelopmental disorder with midbrain and hindbrain malformations
BMGC_DS16512,BMG_DS062959,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 | erythrokeratodermia variabilis et progressiva 2
BMGC_DS16513,BMG_DS062960,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 | erythrokeratodermia variabilis et progressiva 3
BMGC_DS16514,BMG_DS062961,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 | erythrokeratodermia variabilis et progressiva 4
BMGC_DS16515,BMG_DS062962,"PLAA-associated neurodevelopmental disorder | PLAAND - phospholipase A2 activating protein-associated neurodevelopmental disorder | Phospholipase A2 activating protein-associated neurodevelopmental disorder | Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies"
BMGC_DS16516,BMG_DS062963,INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES | intellectual developmental disorder with neuropsychiatric features
BMGC_DS16517,BMG_DS062964,"Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation | Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation | Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) | H1-4-related neurodevelopmental disorder | Rahman syndrome"
BMGC_DS16518,BMG_DS062965,"GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | gaze palsy, familial horizontal, with progressive scoliosis, 2"
BMGC_DS16519,BMG_DS062967,RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA | retinal dystrophy with or without macular staphyloma
BMGC_DS16520,BMG_DS062968,Gabriele de Vries syndrome | Gabriele-de Vries syndrome | Gabriele-de Vries syndrome (disorder) | YY1 haploinsufficiency syndrome
BMGC_DS16521,BMG_DS062969,"Autosomal recessive hypomyelinating leucodystrophy, progressive spastic ataxia | Autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia | NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | NKX6-2-related autosomal recessive hypomyelinating leucodystrophy | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | SPAX8 - spastic ataxia 8 | spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"
BMGC_DS16522,BMG_DS062970,COHEN-GIBSON SYNDROME | Cohen-Gibson syndrome
BMGC_DS16523,BMG_DS062971,MEIER-GORLIN SYNDROME 8 | Meier-Gorlin syndrome 8
BMGC_DS16524,BMG_DS062972,PERRAULT SYNDROME 6 | Perrault syndrome 6
BMGC_DS16525,BMG_DS062975,"HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2"
BMGC_DS16526,BMG_DS062976,"ADRENAL INSUFFICIENCY, NR5A1-RELATED | primary ovarian insufficiency 7"
BMGC_DS16527,BMG_DS063000,Epileptic Syndromes | epilepsy syndrome
BMGC_DS16528,BMG_DS063011,"Hypoadrenocorticism, Familial | Xp21 Contiguous Gene Deletion Syndrome | chromosome Xp21 deletion syndrome"
BMGC_DS16529,BMG_DS063016,Diverticular Bleeding | Diverticular Diseases
BMGC_DS16530,BMG_DS063019,"Mycoplasma ovipneumoniae Infection | Mycoplasma pneumoniae pneumonia | Pneumonia, Mycoplasma"
BMGC_DS16531,BMG_DS063020,"Mycoplasma dispar Infection | Mycoplasma pneumoniae pneumonia | Pneumonia, Mycoplasma"
BMGC_DS16532,BMG_DS063025,Generalized Absence Seizures | Seizures
BMGC_DS16533,BMG_DS063026,Tinea | Trichophyton mentagrophytes Infection
BMGC_DS16534,BMG_DS063027,HIV Coinfection | HIV Infections
BMGC_DS16535,BMG_DS063036,"Chemical and Drug Induced Liver Injury, Chronic"
BMGC_DS16536,BMG_DS063037,"Chemical and Drug Induced Liver Injury, Chronic | Chemical-Induced Liver Injury, Chronic"
BMGC_DS16537,BMG_DS063041,isolated bone marrow mastocytosis
BMGC_DS16538,BMG_DS063044,Senile systemic amyloidosis (SSA) | transthyretin amyloidosis
BMGC_DS16539,BMG_DS063137,Celiac gluten-sensitive enteropathy | Coeliac disease
BMGC_DS16540,BMG_DS063276,non-small cell squamous lung carcinoma
BMGC_DS16541,BMG_DS063279,ECO (endocrine-cerebro-osteodysplasia) syndrome | ECO syndrome | Endocrine cerebroosteodysplasia syndrome | Endocrine-cerebro-osteodysplasia syndrome | Endocrine-cerebro-osteodysplasia syndrome (disorder)
BMGC_DS16542,BMG_DS063280,FADD (FAS-associated protein with death domain) related immunodeficiency | FADD-related immunodeficiency | Immunodeficiency due to mutation of FAS-associated protein with death domain gene | Immunodeficiency due to mutation of FAS-associated protein with death domain gene (disorder)
BMGC_DS16543,BMG_DS063281,Familial acute necrotising encephalopathy | Familial acute necrotizing encephalopathy | Familial acute necrotizing encephalopathy (disorder) | Recurrent acute necrotising encephalopathy | Recurrent acute necrotizing encephalopathy
BMGC_DS16544,BMG_DS063285,Mendelian susceptibility to mycobacterial disease due to complete ISG15 (interferon stimulated gene 15) deficiency | Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency | Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency | Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)
BMGC_DS16545,BMG_DS063286,Mendelian susceptibility to mycobacterial disease due to partial IRF8 (interferon regulatory factor 8) deficiency | Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency | Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency | Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)
BMGC_DS16546,BMG_DS063287,Mendelian susceptibility to mycobacterial disease due to partial STAT1 (signal transducer and activator of transcription 1) deficiency | Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency | Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency | Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder)
BMGC_DS16547,BMG_DS063292,Microcephalic osteodysplastic dysplasia Saul Wilson type | Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)
BMGC_DS16548,BMG_DS063295,Muscular dystrophy Selcen type | Muscular dystrophy Selcen type (disorder) | Selcen muscular dystrophy
BMGC_DS16549,BMG_DS063296,Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus | Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) | Multifocal pattern dystrophy simulating Stargardt disease | Multifocal pattern dystrophy simulating fundus flavimaculatus | multifocal pattern dystrophy simulating fundus flavimaculatus
BMGC_DS16550,BMG_DS063308,Non-progressive cerebellar ataxia with intellectual disability | Non-progressive cerebellar ataxia with intellectual disability (disorder)
BMGC_DS16551,BMG_DS063309,Polyvalvular heart disease syndrome | Polyvalvular heart disease syndrome (disorder) | polyvalvular heart disease syndrome
BMGC_DS16552,BMG_DS063311,"PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome | PHARC syndrome | Peripheral neuropathy Fiskerstrand type | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)"
BMGC_DS16553,BMG_DS063315,NK-cell enteropathy
BMGC_DS16554,BMG_DS063316,Neuropathy with hearing impairment | Peripheral neuropathy with sensorineural hearing impairment syndrome | Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | neuropathy with hearing impairment
BMGC_DS16555,BMG_DS063321,Terminal osseous dysplasia and pigmentary defect syndrome | Terminal osseous dysplasia and pigmentary defect syndrome (disorder)
BMGC_DS16556,BMG_DS063335,Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type | Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis | Severe generalised recessive dystrophic epidermolysis bullosa | Severe generalized recessive dystrophic epidermolysis bullosa | Severe generalized recessive dystrophic epidermolysis bullosa (disorder)
BMGC_DS16557,BMG_DS063358,Idiopathic ventricular fibrillation not Brugada type | Idiopathic ventricular fibrillation not Brugada type (disorder)
BMGC_DS16558,BMG_DS063368,Sensorineural deafness with dilated cardiomyopathy syndrome | Sensorineural deafness with dilated cardiomyopathy syndrome (disorder)
BMGC_DS16559,BMG_DS063389,"Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome | Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder)"
BMGC_DS16560,BMG_DS063390,Myopathy due to calsequestrin and SERCA1 (sarcoplasmic/endoplasmic reticulum calcium ATPase 1) protein overload | Myopathy due to calsequestrin and SERCA1 protein overload | Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload | Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)
BMGC_DS16561,BMG_DS063393,Microcephalic primordial dwarfism Walsh type | Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency | Microcephalic primordial dwarfism due to ZNF335 deficiency | Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency | Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
BMGC_DS16562,BMG_DS063395,"Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome | Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)"
BMGC_DS16563,BMG_DS063396,McLeod neuroacanthocytosis syndrome | McLeod neuroacanthocytosis syndrome (disorder) | X-linked McLeod syndrome
BMGC_DS16564,BMG_DS063398,Laron syndrome with immunodeficiency | Laron syndrome with immunodeficiency (disorder) | Laron-like syndrome | Short stature due to STAT5b (signal transducer and activator of transcription 5b) deficiency
BMGC_DS16565,BMG_DS063422,"Congenital ichthyosis with hypotrichosis syndrome | Congenital ichthyosis with hypotrichosis syndrome (disorder) | Ichthyosis, follicular atrophoderma, hypotrichosis syndrome"
BMGC_DS16566,BMG_DS063423,"Bosma Henkin Christiansen syndrome | Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome | Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) | hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"
BMGC_DS16567,BMG_DS063428,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
BMGC_DS16568,BMG_DS063429,"Hereditary inclusion body myopathy type 3 | Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome | Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) | Inclusion body myopathy type 3 | hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"
BMGC_DS16569,BMG_DS063432,"Hereditary combined deficiency of factors II, VII, IX and X | Hereditary combined deficiency of vitamin K-dependent clotting factors | Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | congenital vitamin K-dependent coagulation factors deficiency | hereditary combined deficiency of vitamin K-dependent clotting factors"
BMGC_DS16570,BMG_DS063433,"Hepatic veno-occlusive disease with immunodeficiency syndrome | Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | VODI (veno-occlusive disease, immunodeficiency) syndrome | VODI syndrome"
BMGC_DS16571,BMG_DS063442,Pneumonia caused by Chlamydia pneumoniae | Pneumonia caused by Chlamydia pneumoniae (disorder)
BMGC_DS16572,BMG_DS063456,ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly | Craniofrontonasal dysplasia with alopecia and hypogonadism | Frontonasal dysplasia with alopecia and genital abnomality | Frontonasal dysplasia with alopecia and genital anomaly syndrome | Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)
BMGC_DS16573,BMG_DS063461,"46,XY partial gonadal dysgenesis | 46,XY partial gonadal dysgenesis (disorder)"
BMGC_DS16574,BMG_DS063463,Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Glycogen storage disease type 0b | Glycogenosis due to muscle and heart glycogen synthase deficiency | Glycogenosis type 0b | Muscle and heart glycogen synthase deficiency | Muscle and heart glycogen synthase deficiency (disorder)
BMGC_DS16575,BMG_DS063464,Glycogen storage disease due to hepatic glycogen synthase deficiency | Glycogen storage disease due to liver glycogen synthase deficiency | Glycogen storage disease type 0a | Glycogenosis type 0a | Hepatic glycogen synthase deficiency | Hepatic glycogen synthase deficiency (disorder)
BMGC_DS16576,BMG_DS063467,Infantile osteopetrosis with neuroaxonal dysplasia | Infantile osteopetrosis with neuroaxonal dysplasia syndrome | Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)
BMGC_DS16577,BMG_DS063484,"Craniometadiaphyseal dysplasia wormian bone type | Craniometadiaphyseal dysplasia wormian bone type (disorder) | craniometadiaphyseal dysplasia, wormian bone type"
BMGC_DS16578,BMG_DS063486,Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency | Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I | Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder)
BMGC_DS16579,BMG_DS063516,Combined immunodeficiency due to CD3-gamma deficiency | Combined immunodeficiency due to CD3gamma deficiency | Combined immunodeficiency due to CD3gamma deficiency (disorder)
BMGC_DS16580,BMG_DS063518,"Atrial septal defect, atrioventricular conduction defect syndrome | Atrial septal defect, atrioventricular conduction defect syndrome (disorder)"
BMGC_DS16581,BMG_DS063519,Atypical juvenile parkinsonism | Atypical juvenile parkinsonism (disorder) | atypical juvenile parkinsonism
BMGC_DS16582,BMG_DS063521,Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial IFNgammaR2 deficiency | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) | autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
BMGC_DS16583,BMG_DS063523,Omodysplasia | Omodysplasia (disorder) | omodysplasia
BMGC_DS16584,BMG_DS063527,3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency | Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase | Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) | HMG-coenzyme A synthase deficiency
BMGC_DS16585,BMG_DS063529,Combined immunodeficiency due to partial RAG1 deficiency | Combined immunodeficiency due to partial recombination-activating gene 1 deficiency | Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder) | Combined immunodeficiency with expansion of gamma delta T cell
BMGC_DS16586,BMG_DS063530,ADP platelet receptor P2Y12 defect | Defect of purinergic receptor p2y G protein-coupled 12 | Defect of purinergic receptor p2y G protein-coupled 12 (disorder) | P2Y12 (purinergic receptor p2y G protein-coupled 12) defect | P2Y12 defect
BMGC_DS16587,BMG_DS063532,"X-linked spasticity, intellectual disability, epilepsy syndrome | X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) | X-linked spasticity-intellectual disability-epilepsy syndrome"
BMGC_DS16588,BMG_DS063540,Estrogen resistance syndrome | Oestrogen resistance syndrome | Puberty disorder due to estrogen resistance | Puberty disorder due to estrogen resistance (disorder) | Puberty disorder due to oestrogen resistance
BMGC_DS16589,BMG_DS063553,acute myeloid leukemia with KAT6A-CREBBP fusion | acute myeloid leukemia with t(8;16)(p11;p13) translocation
BMGC_DS16590,BMG_DS063554,ADSD - autosomal dominant striatal neurodegeneration | Autosomal dominant striatal neurodegeneration | Autosomal dominant striatal neurodegeneration (disorder)
BMGC_DS16591,BMG_DS063566,RDEB-O - recessive dystrophic epidermolysis bullosa-generalised other | RDEB-O - recessive dystrophic epidermolysis bullosa-generalized other | Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type | Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | recessive dystrophic epidermolysis bullosa-generalized other
BMGC_DS16592,BMG_DS063576,"Congenital muscular dystrophy Paradas type | Congenital muscular dystrophy Paradas type (disorder) | Congenital myopathy Paradas type | congenital myopathy, Paradas type"
BMGC_DS16593,BMG_DS063577,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) | autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
BMGC_DS16594,BMG_DS063578,Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)
BMGC_DS16595,BMG_DS063579,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR2 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) | autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
BMGC_DS16596,BMG_DS063580,Severe congenital hypochromic anaemia with ringed sideroblasts | Severe congenital hypochromic anemia with ringed sideroblasts | Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Severe congenital hypochromic sideroblastic anaemia | Severe congenital hypochromic sideroblastic anemia
BMGC_DS16597,BMG_DS063581,Adult-onset CPEO (chronic progressive external ophthalmoplegia) with mitochondrial myopathy | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) | adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
BMGC_DS16598,BMG_DS063586,Bathing suit ichthyosis | Bathing suit ichthyosis (disorder) | bathing suit ichthyosis
BMGC_DS16599,BMG_DS063593,Butterfly-shaped pattern dystrophy | Butterfly-shaped pigment dystrophy | Butterfly-shaped pigmentary macular dystrophy | Butterfly-shaped pigmentary macular dystrophy (disorder) | butterfly-shaped pigment dystrophy
BMGC_DS16600,BMG_DS063595,Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) | congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
BMGC_DS16601,BMG_DS063647,"Autosomal recessive limb girdle muscular dystrophy type 2Y | Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) | Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein 1B) deficiency | Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency | Muscular dystrophy with progressive weakness, distal contracture and rigid spine | autosomal recessive limb-girdle muscular dystrophy type 2Y"
BMGC_DS16602,BMG_DS063654,Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) | Renal hypomagnesaemia type 3 | Renal hypomagnesemia type 3
BMGC_DS16603,BMG_DS063662,Cannabis hyperemesis syndrome co-occurrent and due to cannabis abuse | Cannabis hyperemesis syndrome co-occurrent and due to cannabis abuse (disorder)
BMGC_DS16604,BMG_DS063663,Cannabis hyperemesis syndrome co-occurrent and due to cannabis dependence | Cannabis hyperemesis syndrome co-occurrent and due to cannabis dependence (disorder)
BMGC_DS16605,BMG_DS063668,Autosomal dominant medullary cystic kidney disease | Autosomal dominant tubulointerstitial kidney disease | Autosomal dominant tubulointerstitial kidney disease (disorder) | autosomal dominant medullary cystic kidney disease with or without hyperuricemia
BMGC_DS16606,BMG_DS063672,"CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome | CAMOS syndrome | Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome | Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) | SCAR5 - spinocerebellar ataxia autosomal recessive 5"
BMGC_DS16607,BMG_DS063675,Hereditary hypercarotenaemia and vitamin A deficiency | Hereditary hypercarotenemia and vitamin A deficiency | Hereditary hypercarotenemia and vitamin A deficiency (disorder)
BMGC_DS16608,BMG_DS063677,"X-linked diffuse leiomyomatosis with Alport syndrome | X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | X-linked diffuse leiomyomatosis, Alport syndrome"
BMGC_DS16609,BMG_DS063717,Autosomal recessive limb girdle muscular dystrophy type 2P | Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) | autosomal recessive limb-girdle muscular dystrophy type 2P
BMGC_DS16610,BMG_DS063719,Spastic paraplegia with Paget disease of bone syndrome | Spastic paraplegia with Paget disease of bone syndrome (disorder) | spastic paraplegia-Paget disease of bone syndrome
BMGC_DS16611,BMG_DS063723,"Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Yoshimura Takeshita syndrome | central nervous system calcification-deafness-tubular acidosis-anemia syndrome"
BMGC_DS16612,BMG_DS063728,Epileptic encephalopathy with global cerebral demyelination | Epileptic encephalopathy with global cerebral demyelination (disorder) | Mitochondrial aspartate-glutamate carrier 1 deficiency
BMGC_DS16613,BMG_DS063733,"X-linked intellectual disability Nascimento type | X-linked intellectual disability Nascimento type (disorder) | X-linked intellectual disability, nail dystrophy, seizures syndrome"
BMGC_DS16614,BMG_DS063740,"X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency | X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome"
BMGC_DS16615,BMG_DS063747,COASY protein-associated neurodegeneration | CoPAN - coenzyme A synthase protein associated neurodegeneration | Coenzyme A synthase protein associated neurodegeneration | Coenzyme A synthase protein associated neurodegeneration (disorder) | Neurodegeneration with brain iron accumulation due to COASY mutation | neurodegeneration with brain iron accumulation 6
BMGC_DS16616,BMG_DS063751,Autosomal recessive limb girdle muscular dystrophy type 2S | Autosomal recessive limb girdle muscular dystrophy type 2S (disorder) | autosomal recessive limb-girdle muscular dystrophy type R18
BMGC_DS16617,BMG_DS063752,Autosomal recessive limb girdle muscular dystrophy type 2T | Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) | autosomal recessive limb-girdle muscular dystrophy type 2T
BMGC_DS16618,BMG_DS063759,"Autism spectrum disorder, epilepsy, arthrogryposis syndrome | Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation"
BMGC_DS16619,BMG_DS063766,Acral DEB (dystrophic epidermolysis bullosa) | Acral dystrophic epidermolysis bullosa | Acral dystrophic epidermolysis bullosa (disorder) | acral dystrophic epidermolysis bullosa
BMGC_DS16620,BMG_DS063814,Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency | Primary immunodeficiency due to MCM4 deficiency | Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency | Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
BMGC_DS16621,BMG_DS063815,"Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome | Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) | Moyamoya disease, short stature, facial dysmorphism, hypergonadotropic hypogonadism"
BMGC_DS16622,BMG_DS063817,clear cell papillary renal cell carcinoma
BMGC_DS16623,BMG_DS063820,Spinocerebellar ataxia type 40 | Spinocerebellar ataxia type 40 (disorder) | spinocerebellar ataxia type 40
BMGC_DS16624,BMG_DS063821,Spinocerebellar ataxia type 38 | Spinocerebellar ataxia type 38 (disorder) | spinocerebellar ataxia type 38
BMGC_DS16625,BMG_DS063822,Wolfram-like syndrome | Wolfram-like syndrome (disorder)
BMGC_DS16626,BMG_DS063825,isolated congenital megalocornea
BMGC_DS16627,BMG_DS063827,Distal 22q11.2 microdeletion syndrome | Distal 22q11.2 microdeletion syndrome (disorder) | Distal monosomy 22q11.2
BMGC_DS16628,BMG_DS063828,12q15q21.1 microdeletion syndrome | 12q15q21.1 microdeletion syndrome (disorder) | Deletion 12q15q21.1 | Monosomy 12q15q21.1
BMGC_DS16629,BMG_DS063830,MIT family translocation renal cell carcinoma
BMGC_DS16630,BMG_DS063883,Early-onset Lafora body disease | Early-onset Lafora body disease (disorder)
BMGC_DS16631,BMG_DS063924,Epilepsy of infancy with migrating focal seizures | Epilepsy of infancy with migrating focal seizures (disorder) | epilepsy of infancy with migrating focal seizures
BMGC_DS16632,BMG_DS063944,Noninfectious panuveitis | Noninfectious panuveitis (disorder)
BMGC_DS16633,BMG_DS063949,Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy) | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)
BMGC_DS16634,BMG_DS063951,Chronic diarrhea with hereditary sensory and autonomic neuropathy | Chronic diarrhoea with hereditary sensory and autonomic neuropathy | PrP (prion protein) systemic amyloidosis | PrP systemic amyloidosis | Prion protein systemic amyloidosis | Prion protein systemic amyloidosis (disorder)
BMGC_DS16635,BMG_DS063952,Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency | Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder) | Meconium ileus due to guanylate cyclase 2C deficiency | intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
BMGC_DS16636,BMG_DS063954,Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 | Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder) | Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency | Congenital disorder of glycosylation type II due to MAN1B1 deficiency | MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation | MAN1B1-congenital disorder of glycosylation
BMGC_DS16637,BMG_DS063955,"Leucoencephalopathy, dystonia, motor neuropathy syndrome | Leukoencephalopathy, dystonia, motor neuropathy syndrome | Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder)"
BMGC_DS16638,BMG_DS063956,"Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome | Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome | Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder) | epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"
BMGC_DS16639,BMG_DS063958,Ehlers-Danlos and osteogenesis imperfecta syndrome | Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder) | Ehlers-Danlos/osteogenesis imperfecta syndrome
BMGC_DS16640,BMG_DS063964,Distal ABD-filaminopathy | Distal myopathy with posterior leg and anterior hand involvement | Distal myopathy with posterior leg and anterior hand involvement (disorder)
BMGC_DS16641,BMG_DS063967,17q12 microdeletion syndrome | 17q12 microdeletion syndrome (disorder) | Monosomy 17q12
BMGC_DS16642,BMG_DS063969,"Distal 16p11.2 microdeletion syndrome | Distal 16p11.2 microdeletion syndrome (disorder) | Distal monosomy 16p11.2 | chromosome 16p11.2 deletion syndrome, 220-kb"
BMGC_DS16643,BMG_DS063971,acute myeloid leukemia with t(6;9)(p23;q34)
BMGC_DS16644,BMG_DS063972,Adult-onset multiple mitochondrial DNA (deoxyribonucleic acid) deletion syndrome due to DGUOK (deoxyguanosine kinase) deficiency | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency | Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder)
BMGC_DS16645,BMG_DS063973,COXPD8 - combined oxidative phosphorylation defect type 8 | Combined oxidative phosphorylation defect type 8 | Combined oxidative phosphorylation defect type 8 (disorder) | combined oxidative phosphorylation defect type 8
BMGC_DS16646,BMG_DS064121,erythroleukemia
BMGC_DS16647,BMG_DS064123,Otospondylomegaepiphyseal dysplasia | Otospondylomegaepiphyseal dysplasia (disorder) | otospondylomegaepiphyseal dysplasia
BMGC_DS16648,BMG_DS064125,basal ganglia disorder
BMGC_DS16649,BMG_DS064126,extrahepatic biliary atresia
BMGC_DS16650,BMG_DS064127,Juvenile polyarthritis | polyarticular juvenile idiopathic arthritis
BMGC_DS16651,BMG_DS064129,ACROMEGALY DUE TO PITUITARY ADENOMA 1 | pituitary adenoma 1
BMGC_DS16652,BMG_DS064134,SPINOCEREBELLAR ATAXIA 44 | spinocerebellar ataxia 44
BMGC_DS16653,BMG_DS064135,"FANCONI ANEMIA, COMPLEMENTATION GROUP W | Fanconi anemia complementation group W | Fanconi anemia, complementation group W"
BMGC_DS16654,BMG_DS064136,AUDITORY NEUROPATHY AND OPTIC ATROPHY | auditory neuropathy-optic atrophy syndrome
BMGC_DS16655,BMG_DS064137,"DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | autosomal dominant nonsyndromic deafness 34 | hearing loss, autosomal dominant 34, with or without inflammation"
BMGC_DS16656,BMG_DS064140,HELIX SYNDROME | HELIX syndrome
BMGC_DS16657,BMG_DS064151,high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
BMGC_DS16658,BMG_DS064158,breast implant-associated anaplastic large cell lymphoma
BMGC_DS16659,BMG_DS064166,growth hormone secreting pituitary adenoma 1
BMGC_DS16660,BMG_DS064168,"MARSILI SYNDROME | Marsili syndrome | indifference to pain, congenital, autosomal dominant"
BMGC_DS16661,BMG_DS064169,"SYRINGOMYELIA, NONCOMMUNICATING ISOLATED | syringomyelia, isolated"
BMGC_DS16662,BMG_DS064170,"COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY"
BMGC_DS16663,BMG_DS064171,DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 | diencephalic-mesencephalic junction dysplasia syndrome 1
BMGC_DS16664,BMG_DS064173,"GALLOWAY-MOWAT SYNDROME 2, X-LINKED | Galloway-Mowat syndrome 2 | Galloway-Mowat syndrome 2, X-linked"
BMGC_DS16665,BMG_DS064174,"intellectual disability, X-linked, syndromic, Houge type"
BMGC_DS16666,BMG_DS064175,"MYOPIA 26, X-LINKED, FEMALE-LIMITED | myopia 26, X-linked, female-limited"
BMGC_DS16667,BMG_DS064179,JOUBERT SYNDROME 34 | Joubert syndrome 34
BMGC_DS16668,BMG_DS064182,"pituitary adenoma 5, multiple types"
BMGC_DS16669,BMG_DS064184,MECKEL SYNDROME 13 | Meckel syndrome 13
BMGC_DS16670,BMG_DS064185,JOUBERT SYNDROME 29 | Joubert syndrome 29 | Meckel syndrome 13
BMGC_DS16671,BMG_DS064186,OROFACIODIGITAL SYNDROME XVI | orofaciodigital syndrome 16 | orofaciodigital syndrome XVI
BMGC_DS16672,BMG_DS064187,"ichthyosis, congenital, autosomal recessive 14"
BMGC_DS16673,BMG_DS064188,EXUDATIVE VITREORETINOPATHY 7 | exudative vitreoretinopathy 7
BMGC_DS16674,BMG_DS064189,"ichthyosis, congenital, autosomal recessive 13"
BMGC_DS16675,BMG_DS064190,SPERMATOGENIC FAILURE 18 | spermatogenic failure 18
BMGC_DS16676,BMG_DS064191,"CILIARY DYSKINESIA, PRIMARY, 37 | ciliary dyskinesia, primary, 37 | primary ciliary dyskinesia 37"
BMGC_DS16677,BMG_DS064192,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | autosomal recessive spinocerebellar ataxia 25 | spinocerebellar ataxia, autosomal recessive 25"
BMGC_DS16678,BMG_DS064193,IMMUNODEFICIENCY 53 | immunodeficiency 53
BMGC_DS16679,BMG_DS064194,SPERMATOGENIC FAILURE 19 | spermatogenic failure 19
BMGC_DS16680,BMG_DS064195,SPERMATOGENIC FAILURE 20 | spermatogenic failure 20
BMGC_DS16681,BMG_DS064196,BIRK-LANDAU-PEREZ SYNDROME | psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
BMGC_DS16682,BMG_DS064197,MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 | mosaic variegated aneuploidy syndrome 3
BMGC_DS16683,BMG_DS064198,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 | developmental and epileptic encephalopathy 55 | developmental and epileptic encephalopathy, 55"
BMGC_DS16684,BMG_DS064199,"intellectual disability, autosomal dominant 45"
BMGC_DS16685,BMG_DS064200,"intellectual disability, autosomal dominant 46"
BMGC_DS16686,BMG_DS064201,CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | congenital heart defects and skeletal malformations syndrome
BMGC_DS16687,BMG_DS064202,"MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES | microcephaly, short stature, and limb abnormalities"
BMGC_DS16688,BMG_DS064203,"DEAFNESS, AUTOSOMAL DOMINANT 71 | autosomal dominant nonsyndromic deafness 71 | hearing loss, autosomal dominant 71"
BMGC_DS16689,BMG_DS064204,"DEAFNESS, AUTOSOMAL DOMINANT 72 | autosomal dominant nonsyndromic deafness 72 | hearing loss, autosomal dominant 72"
BMGC_DS16690,BMG_DS064205,"AMELOGENESIS IMPERFECTA, TYPE IIIB | amelogenesis imperfecta type 3B"
BMGC_DS16691,BMG_DS064206,"NEPHROTIC SYNDROME, TYPE 15 | nephrotic syndrome 15 | nephrotic syndrome type 15"
BMGC_DS16692,BMG_DS064207,POLYCYSTIC KIDNEY DISEASE 5 | polycystic kidney disease 5
BMGC_DS16693,BMG_DS064208,ISCA1 (iron-sulfur cluster assembly 1) deficiency | ISCA1 deficiency | MMDS5 - multiple mitochondrial dysfunctions syndrome type 5 | Multiple mitochondrial dysfunctions syndrome type 5 | Multiple mitochondrial dysfunctions syndrome type 5 (disorder) | multiple mitochondrial dysfunctions syndrome 5
BMGC_DS16694,BMG_DS064209,SKRABAN-DEARDORFF SYNDROME | Skraban-Deardorff syndrome
BMGC_DS16695,BMG_DS064210,JOUBERT SYNDROME 30 | Joubert syndrome 30
BMGC_DS16696,BMG_DS064211,"FIBROMATOSIS, GINGIVAL, 5 | fibromatosis, gingival, 5 | gingival fibromatosis 5"
BMGC_DS16697,BMG_DS064212,schizophrenia 19
BMGC_DS16698,BMG_DS064213,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 | autosomal recessive spinocerebellar ataxia 26 | spinocerebellar ataxia, autosomal recessive 26"
BMGC_DS16699,BMG_DS064214,"intellectual disability, autosomal dominant 47"
BMGC_DS16700,BMG_DS064215,"DEAFNESS, AUTOSOMAL RECESSIVE 106 | autosomal recessive nonsyndromic deafness 106 | hearing loss, autosomal recessive 106"
BMGC_DS16701,BMG_DS064216,IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS | immunodeficiency 11B | immunodeficiency 11b with atopic dermatitis
BMGC_DS16702,BMG_DS064217,"DEAFNESS, AUTOSOMAL RECESSIVE 107 | autosomal recessive nonsyndromic deafness 107 | hearing loss, autosomal recessive 107"
BMGC_DS16703,BMG_DS064218,"CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY | congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"
BMGC_DS16704,BMG_DS064219,"polydactyly, postaxial, type a7"
BMGC_DS16705,BMG_DS064220,"CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | cerebellar atrophy, developmental delay, and seizures"
BMGC_DS16706,BMG_DS064221,SPERMATOGENIC FAILURE 21 | spermatogenic failure 21
BMGC_DS16707,BMG_DS064222,"DEAFNESS, AUTOSOMAL RECESSIVE 108 | autosomal recessive nonsyndromic deafness 108 | hearing loss, autosomal recessive 108"
BMGC_DS16708,BMG_DS064223,"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 | vertebral, cardiac, renal, and limb defects syndrome 1"
BMGC_DS16709,BMG_DS064224,"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 | vertebral, cardiac, renal, and limb defects syndrome 2"
BMGC_DS16710,BMG_DS064225,"Severe myopia, generalised joint laxity, short stature syndrome | Severe myopia, generalized joint laxity, short stature syndrome | Severe myopia, generalized joint laxity, short stature syndrome (disorder) | joint laxity, short stature, and myopia"
BMGC_DS16711,BMG_DS064226,"DEAFNESS, AUTOSOMAL DOMINANT 73 | autosomal dominant nonsyndromic deafness 73 | hearing loss, autosomal dominant 73"
BMGC_DS16712,BMG_DS064227,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | combined oxidative phosphorylation deficiency 32
BMGC_DS16713,BMG_DS064228,combined oxidative phosphorylation deficiency
BMGC_DS16714,BMG_DS064229,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56 | developmental and epileptic encephalopathy 56 | developmental and epileptic encephalopathy, 56"
BMGC_DS16715,BMG_DS064230,FRASER SYNDROME 2 | Fraser syndrome 2
BMGC_DS16716,BMG_DS064231,FRASER SYNDROME 3 | Fraser syndrome 3
BMGC_DS16717,BMG_DS064232,"ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities"
BMGC_DS16718,BMG_DS064233,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | childhood-onset neurodegeneration with brain atrophy"
BMGC_DS16719,BMG_DS064234,"Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome | Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) | Mitochondrial myopathy, cerebellar atrophy, pigmentary retinopathy syndrome | mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"
BMGC_DS16720,BMG_DS064235,BLEPHAROCHEILODONTIC SYNDROME 2 | blepharocheilodontic syndrome 2
BMGC_DS16721,BMG_DS064236,"Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Pilarowski Bjornsson syndrome | Pilarowski-Bjornsson syndrome"
BMGC_DS16722,BMG_DS064237,"pituitary adenoma 3, multiple types"
BMGC_DS16723,BMG_DS064238,OVARIAN DYSGENESIS 5 | ovarian dysgenesis 5
BMGC_DS16724,BMG_DS064239,AL KAISSI SYNDROME | Al Kaissi syndrome
BMGC_DS16725,BMG_DS064240,"pontocerebellar hypoplasia, type 11"
BMGC_DS16726,BMG_DS064241,"3-methylglutaconic aciduria type 9 | 3-methylglutaconic aciduria type 9 (disorder) | 3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome"
BMGC_DS16727,BMG_DS064242,SPERMATOGENIC FAILURE 22 | spermatogenic failure 22
BMGC_DS16728,BMG_DS064243,SPERMATOGENIC FAILURE 23 | spermatogenic failure 23
BMGC_DS16729,BMG_DS064244,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES | neurodevelopmental disorder with microcephaly, ataxia, and seizures"
BMGC_DS16730,BMG_DS064245,"Mitochondrial tryptophanyl-tRNA synthetase deficiency | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder) | WARS2-related combined oxidative phosphorylation defect | neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"
BMGC_DS16731,BMG_DS064246,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 | developmental and epileptic encephalopathy 91
BMGC_DS16732,BMG_DS064247,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 3 | oocyte maturation defect 3
BMGC_DS16733,BMG_DS064248,combined oxidative phosphorylation deficiency 33
BMGC_DS16734,BMG_DS064249,IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA | immunodeficiency 71 | platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
BMGC_DS16735,BMG_DS064250,"epiphyseal dysplasia, multiple, 7"
BMGC_DS16736,BMG_DS064253,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 9 | autosomal dominant distal hereditary motor neuronopathy 9 | neuronopathy, distal hereditary motor, type 9"
BMGC_DS16737,BMG_DS064254,GALLOWAY-MOWAT SYNDROME 3 | Galloway-Mowat syndrome 3
BMGC_DS16738,BMG_DS064255,GALLOWAY-MOWAT SYNDROME 4 | Galloway-Mowat syndrome 4
BMGC_DS16739,BMG_DS064256,GALLOWAY-MOWAT SYNDROME 5 | Galloway-Mowat syndrome 5
BMGC_DS16740,BMG_DS064257,"FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION | facial palsy, congenital, with ptosis and velopharyngeal dysfunction"
BMGC_DS16741,BMG_DS064258,oocyte maturation defect 4
BMGC_DS16742,BMG_DS064259,"IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA | immunodeficiency, developmental delay, and hypohomocysteinemia"
BMGC_DS16743,BMG_DS064260,SWEENEY-COX SYNDROME | Sweeney-Cox syndrome
BMGC_DS16744,BMG_DS064261,"intellectual disability, autosomal dominant 48"
BMGC_DS16745,BMG_DS064262,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
BMGC_DS16746,BMG_DS064263,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 | erythrokeratodermia variabilis et progressiva 5
BMGC_DS16747,BMG_DS064264,JOUBERT SYNDROME 32 | Joubert syndrome 32
BMGC_DS16748,BMG_DS064265,"MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION | centronuclear myopathy 6 with fiber-type disproportion | myopathy, centronuclear, 6, with fiber-type disproportion"
BMGC_DS16749,BMG_DS064266,JOUBERT SYNDROME 31 | Joubert syndrome 31
BMGC_DS16750,BMG_DS064267,ACER3-related early childhood-onset progressive leucodystrophy | ACER3-related early childhood-onset progressive leukodystrophy | Alkaline ceramidase 3 deficiency | Leucodystrophy due to alkaline ceramidase 3 deficiency | Leukodystrophy due to alkaline ceramidase 3 deficiency | Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | alkaline ceramidase 3 deficiency
BMGC_DS16751,BMG_DS064268,"SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | short stature, hearing loss, retinitis pigmentosa, and distinctive facies"
BMGC_DS16752,BMG_DS064270,"IMMUNODEFICIENCY, COMMON VARIABLE, 14 | common variable immunodeficiency 14 | immunodeficiency, common variable, 14"
BMGC_DS16753,BMG_DS064271,JOUBERT SYNDROME 33 | Joubert syndrome 33
BMGC_DS16754,BMG_DS064272,KLEEFSTRA SYNDROME 2 | Kleefstra syndrome 2
BMGC_DS16755,BMG_DS064273,SCA45 - spinocerebellar ataxia type 45 | Spinocerebellar ataxia type 45 | Spinocerebellar ataxia type 45 (disorder) | spinocerebellar ataxia 45
BMGC_DS16756,BMG_DS064274,SCA46 - spinocerebellar ataxia type 46 | Spinocerebellar ataxia type 46 | Spinocerebellar ataxia type 46 (disorder) | spinocerebellar ataxia 46
BMGC_DS16757,BMG_DS064275,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57 | developmental and epileptic encephalopathy 57 | developmental and epileptic encephalopathy, 57"
BMGC_DS16758,BMG_DS064276,"intellectual disability, autosomal recessive 61"
BMGC_DS16759,BMG_DS064277,COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA | combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
BMGC_DS16760,BMG_DS064278,RETINITIS PIGMENTOSA 80 | retinitis pigmentosa 80
BMGC_DS16761,BMG_DS064279,"NEPHROTIC SYNDROME, TYPE 16 | nephrotic syndrome 16 | nephrotic syndrome type 16"
BMGC_DS16762,BMG_DS064280,"intellectual disability, autosomal dominant 50"
BMGC_DS16763,BMG_DS064281,"intellectual disability, autosomal dominant 51"
BMGC_DS16764,BMG_DS064282,"intellectual disability, autosomal dominant 52"
BMGC_DS16765,BMG_DS064283,"intellectual disability, autosomal dominant 53"
BMGC_DS16766,BMG_DS064284,"intellectual disability, autosomal dominant 54"
BMGC_DS16767,BMG_DS064285,"MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 19, primary, autosomal recessive | primary autosomal recessive microcephaly 19"
BMGC_DS16768,BMG_DS064286,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY | neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy"
BMGC_DS16769,BMG_DS064287,neurodevelopmental disorder with severe motor impairment and absent language
BMGC_DS16770,BMG_DS064288,renal hypodysplasia/aplasia 3
BMGC_DS16771,BMG_DS064289,"NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"
BMGC_DS16772,BMG_DS064290,COFFIN-SIRIS SYNDROME 6 | Coffin-Siris syndrome 6
BMGC_DS16773,BMG_DS064291,geleophysic dysplasia 3
BMGC_DS16774,BMG_DS064292,"GPAA1-related biosynthesis defect | Glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome (disorder) | glycosylphosphatidylinositol biosynthesis defect 15"
BMGC_DS16775,BMG_DS064293,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 | glycosylphosphatidylinositol biosynthesis defect 16
BMGC_DS16776,BMG_DS064294,GLUCOCORTICOID DEFICIENCY 5 | glucocorticoid deficiency 5
BMGC_DS16777,BMG_DS064299,"SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS"
BMGC_DS16778,BMG_DS064302,RENI SYNDROME | nephrotic syndrome 14 | nephrotic syndrome type 14
BMGC_DS16779,BMG_DS064305,POLYCYSTIC KIDNEY DISEASE 4 | polycystic kidney disease 4
BMGC_DS16780,BMG_DS064510,Disorder of neutrophil chemotaxis | Disorder of neutrophil chemotaxis (disorder)
BMGC_DS16781,BMG_DS064519,Chronic infection caused by Hepatitis D virus | Chronic infection caused by Hepatitis D virus (disorder) | Chronic viral hepatitis D
BMGC_DS16782,BMG_DS064618,Narcolepsy type 1 | Narcolepsy type 1 (disorder)
BMGC_DS16783,BMG_DS064824,Chronic Pain | Chronic Primary Pain
BMGC_DS16784,BMG_DS064898,Hemiparkinsonism hemiatrophy syndrome | Hemiparkinsonism hemiatrophy syndrome (disorder) | hemiparkinsonism-hemiatrophy syndrome
BMGC_DS16785,BMG_DS064942,myeloid neoplasm associated with PDGFRA rearrangement
BMGC_DS16786,BMG_DS064976,Congenital Zika Syndrome | Zika Virus Infection | Zika fever | Zika virus congenital syndrome
BMGC_DS16787,BMG_DS065013,congenital non-communicating hydrocephalus
BMGC_DS16788,BMG_DS065225,Seckel syndrome 1
BMGC_DS16789,BMG_DS065226,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 | autosomal dominant Robinow syndrome 1"
BMGC_DS16790,BMG_DS065227,NEU-LAXOVA SYNDROME 1 | Neu-Laxova syndrome 1
BMGC_DS16791,BMG_DS065228,"Osteochondrodysplasias | Schwartz-Jampel Syndrome, Type 1 | Schwartz-Jampel syndrome type 1"
BMGC_DS16792,BMG_DS065229,FRASER SYNDROME 1 | Fraser syndrome 1
BMGC_DS16793,BMG_DS065230,TOWNES-BROCKS SYNDROME 1 | Townes-Brocks syndrome 1
BMGC_DS16794,BMG_DS065231,Adams-Oliver syndrome 1
BMGC_DS16795,BMG_DS065232,SCLEROSTEOSIS 1 | sclerosteosis 1
BMGC_DS16796,BMG_DS065233,"LEOPARD Syndrome | LEOPARD Syndrome, 1 | LEOPARD syndrome 1"
BMGC_DS16797,BMG_DS065234,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | erythrokeratodermia variabilis et progressiva 1
BMGC_DS16798,BMG_DS065235,bifid uvula
BMGC_DS16799,BMG_DS065236,situs inversus
BMGC_DS16800,BMG_DS065238,"Hypophosphatemic Rickets, Autosomal Recessive, 1 | hypophosphatemic rickets, autosomal recessive, 1"
BMGC_DS16801,BMG_DS065239,"Hyperuricemic Nephropathy, Familial Juvenile 1 | familial juvenile hyperuricemic nephropathy type 1"
BMGC_DS16802,BMG_DS065242,"EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 | Ehlers-Danlos syndrome periodontal type 1 | Ehlers-Danlos syndrome, periodontal type 1"
BMGC_DS16803,BMG_DS065243,"Amyloid Neuropathies, Familial | Amyloid Polyneuropathy, Iowa Type | amyloidosis, hereditary systemic 3"
BMGC_DS16804,BMG_DS065244,"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 | amyloidosis, primary localized cutaneous, 1 | primary localized cutaneous amyloidosis 1"
BMGC_DS16805,BMG_DS065245,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | hyperphosphatasia with impaired intellectual development syndrome 1 | hyperphosphatasia with intellectual disability syndrome 1
BMGC_DS16806,BMG_DS065246,FANCONI RENOTUBULAR SYNDROME 1 | Fanconi renotubular syndrome 1
BMGC_DS16807,BMG_DS065247,Oculocutaneous albinism type 1A | oculocutaneous albinism type 1A
BMGC_DS16808,BMG_DS065248,"3-Methylcrotonyl-CoA carboxylase deficiency | 3-methylcrotonyl-CoA carboxylase deficiency | BMCC deficiency | MCC deficiency | Methylcrotonyl-CoA carboxylase deficiency | Methylcrotonyl-coenzyme A carboxylase deficiency | Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | beta-Methylcrotonylglycinuria, type 1"
BMGC_DS16809,BMG_DS065249,Paroxysmal Nonkinesigenic Dyskinesia 1 | paroxysmal nonkinesigenic dyskinesia 1
BMGC_DS16810,BMG_DS065250,Autosomal dominant optic atrophy | Dominant hereditary optic atrophy | Dominant hereditary optic atrophy (disorder) | autosomal dominant optic atrophy
BMGC_DS16811,BMG_DS065251,Jervell And Lange-Nielsen Syndrome 1 | Jervell and Lange-Nielsen syndrome 1 | Jervell-Lange Nielsen Syndrome
BMGC_DS16812,BMG_DS065252,CARPENTER SYNDROME 1 | RAB23-related Carpenter syndrome
BMGC_DS16813,BMG_DS065253,Erythroid 5-aminolaevulinate synthetase deficiency | Erythroid 5-aminolevulinate synthetase deficiency | Hereditary sideroblastic anaemia | Hereditary sideroblastic anemia | Hereditary sideroblastic anemia (disorder) | X chromosome-linked sideroblastic anaemia | X chromosome-linked sideroblastic anemia | X chromosome-linked sideroblastic anemia (disorder) | X-linked sideroblastic anaemia | X-linked sideroblastic anemia | X-linked sideroblastic anemia 1
BMGC_DS16814,BMG_DS065254,DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA | dehydrated hereditary stomatocytosis 1 | dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
BMGC_DS16815,BMG_DS065255,"Hemophagocytic Lymphohistiocytosis, Familial, 1 | Lymphohistiocytosis, Hemophagocytic | familial hemophagocytic lymphohistiocytosis type 1"
BMGC_DS16816,BMG_DS065256,"Chilblain lupus erythematosus | Chilblain lupus erythematosus (disorder) | Lupus pernio | Sarcoidosis, lupus pernio type | Sarcoidosis, lupus pernio type (disorder) | chilblain lupus"
BMGC_DS16817,BMG_DS065257,Abducens Nerve Diseases | Abducens Nerve Palsy | abducens nerve palsy
BMGC_DS16818,BMG_DS065258,Focal segmental glomerulosclerosis 1 | focal segmental glomerulosclerosis 1
BMGC_DS16819,BMG_DS065260,"EPILEPSY, HOT WATER, 1 | epilepsy, hot water, 1 | hot water epilepsy 1"
BMGC_DS16820,BMG_DS065261,Charcot-Marie-Tooth disease type X | X-linked Charcot-Marie-Tooth disease | X-linked hereditary motor and sensory neuropathy | X-linked hereditary motor and sensory neuropathy (disorder)
BMGC_DS16821,BMG_DS065262,"CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 | cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1"
BMGC_DS16822,BMG_DS065263,SPECIFIC GRANULE DEFICIENCY 1 | specific granule deficiency 1
BMGC_DS16823,BMG_DS065264,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 | immunodeficiency-centromeric instability-facial anomalies syndrome 1
BMGC_DS16824,BMG_DS065265,"Fibromatosis, Gingival, Type 1 | fibromatosis, gingival, 1"
BMGC_DS16825,BMG_DS065266,Senior-Loken Syndrome 1 | Senior-Loken syndrome | Senior-Loken syndrome 1
BMGC_DS16826,BMG_DS065267,"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 | avascular necrosis of femoral head, primary, 1"
BMGC_DS16827,BMG_DS065268,microcephaly
BMGC_DS16828,BMG_DS065270,Joubert syndrome 1
BMGC_DS16829,BMG_DS065271,Cranioectodermal dysplasia | Cranioectodermal dysplasia (disorder) | Sensenbrenner's syndrome | cranioectodermal dysplasia
BMGC_DS16830,BMG_DS065272,"MYOFIBROMATOSIS, INFANTILE, 1 | myofibromatosis, infantile, 1"
BMGC_DS16831,BMG_DS065273,UNCOMBABLE HAIR SYNDROME 1 | uncombable hair syndrome 1
BMGC_DS16832,BMG_DS065274,Cerebral cortical atrophy
BMGC_DS16833,BMG_DS065275,Brain atrophy
BMGC_DS16834,BMG_DS065276,"ESOPHAGITIS, EOSINOPHILIC, 1 | esophagitis, eosinophilic, 1"
BMGC_DS16835,BMG_DS065277,Dalmatian hypouricaemia | Dalmatian hypouricemia | Familial renal hypouricaemia | Familial renal hypouricemia | Familial renal hypouricemia (disorder) | hereditary renal hypouricemia
BMGC_DS16836,BMG_DS065278,"SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 | congenital symmetric circumferential skin creases 1 | multiple benign circumferential skin creases on limbs 1"
BMGC_DS16837,BMG_DS065280,"Biliary Cirrhosis, Primary, 1 | Liver Cirrhosis, Biliary | primary biliary cholangitis 1"
BMGC_DS16838,BMG_DS065281,Noonan Syndrome | Noonan Syndrome 1 | Noonan syndrome 1
BMGC_DS16839,BMG_DS065282,"EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 | Ehlers-Danlos syndrome arthrochalasia type 1 | Ehlers-Danlos syndrome, arthrochalasia type"
BMGC_DS16840,BMG_DS065283,"Idiopathic basal ganglia calcification 1 | basal ganglia calcification, idiopathic, 1 | bilateral striopallidodentate calcinosis"
BMGC_DS16841,BMG_DS065284,leukonychia totalis
BMGC_DS16842,BMG_DS065285,Granulocytopenia | Granulocytopenic disorder | Granulocytopenic disorder (disorder)
BMGC_DS16843,BMG_DS065286,"Ichthyosis Congenita I | Ichthyosis, Lamellar | autosomal recessive congenital ichthyosis 1"
BMGC_DS16844,BMG_DS065287,Chronic pancreatitis | Chronic pancreatitis (disorder) | Recurrent pancreatitis | Recurrent pancreatitis (disorder)
BMGC_DS16845,BMG_DS065291,"Erythrocytosis familial, 1 | primary familial polycythemia due to EPO receptor mutation"
BMGC_DS16846,BMG_DS065292,Romano-Ward Syndrome | long QT syndrome 1
BMGC_DS16847,BMG_DS065293,developmental dysplasia of the hip
BMGC_DS16848,BMG_DS065294,Esophageal Stenosis | Esophageal Stricture
BMGC_DS16849,BMG_DS065296,Intraretinal haemorrhage | Intraretinal hemorrhage | Retinal haemorrhage | Retinal haemorrhages | Retinal hemorrhage | Retinal hemorrhage (disorder) | Retinal hemorrhages
BMGC_DS16850,BMG_DS065297,Primary sideroblastic anaemia | Primary sideroblastic anemia | Refractory sideroblastic anaemia | Refractory sideroblastic anemia | Sideroachrestic anaemia | Sideroachrestic anemia | Sideroblastic anaemia | Sideroblastic anemia | Sideroblastic anemia (disorder)
BMGC_DS16851,BMG_DS065299,"Keratoderma, Palmoplantar"
BMGC_DS16852,BMG_DS065301,"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 | hypertrophic osteoarthropathy, primary, autosomal recessive, 1"
BMGC_DS16853,BMG_DS065303,"Aggressive Periodontitis | Periodontitis, Aggressive, 1 | periodontitis, aggressive 1"
BMGC_DS16854,BMG_DS065304,adrenal gland pheochromocytoma
BMGC_DS16855,BMG_DS065307,Sleep Apnea Syndromes | Sleep-Disordered Breathing
BMGC_DS16856,BMG_DS065308,urethral stricture
BMGC_DS16857,BMG_DS065309,Wolfram Syndrome | Wolfram Syndrome 1 | Wolfram syndrome 1
BMGC_DS16858,BMG_DS065310,Branchio-Oto-Renal Syndrome | Branchiootorenal Syndrome 1 | branchiootorenal syndrome 1
BMGC_DS16859,BMG_DS065311,Cone-Rod Dystrophies | Rod-Cone Dystrophy
BMGC_DS16860,BMG_DS065312,Pigmentary retinopathy
BMGC_DS16861,BMG_DS065313,Ciliary Motility Disorders | Primary Ciliary Dyskinesia
BMGC_DS16862,BMG_DS065314,PERRAULT SYNDROME 1 | Perrault syndrome 1
BMGC_DS16863,BMG_DS065315,Esodeviation | Esotropia
BMGC_DS16864,BMG_DS065317,"CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 | cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"
BMGC_DS16865,BMG_DS065318,"Epilepsy, Benign Neonatal | Seizures, Benign Familial Infantile, 1 | benign familial neonatal-infantile seizures 1"
BMGC_DS16866,BMG_DS065319,Kleefstra syndrome | Kleefstra syndrome (disorder)
BMGC_DS16867,BMG_DS065320,GALLOWAY-MOWAT SYNDROME 1 | Galloway-Mowat syndrome 1
BMGC_DS16868,BMG_DS065321,ZIMMERMANN-LABAND SYNDROME 1 | Zimmermann-Laband syndrome 1
BMGC_DS16869,BMG_DS065322,Feingold syndrome type 1
BMGC_DS16870,BMG_DS065323,"Knobloch Syndrome, Type I | Knobloch syndrome 1"
BMGC_DS16871,BMG_DS065324,RITSCHER-SCHINZEL SYNDROME 1 | Ritscher-Schinzel syndrome 1
BMGC_DS16872,BMG_DS065326,Brugada Syndrome | Brugada Syndrome 1 | Brugada syndrome 1
BMGC_DS16873,BMG_DS065327,Oguchi Disease 1 | Oguchi disease-1
BMGC_DS16874,BMG_DS065328,Imerslund-Grasbeck syndrome | Megaloblastic Anemia 1
BMGC_DS16875,BMG_DS065329,Deafness-symphalangism syndrome of Herrmann
BMGC_DS16876,BMG_DS065330,Hereditary progressive muscular dystrophy | Hereditary progressive muscular dystrophy (disorder) | MD - Muscular dystrophy | Muscular dystrophy | Muscular dystrophy (disorder) | PMD - Progressive muscular dystrophy | Progressive muscular dystrophy | progressive muscular dystrophy
BMGC_DS16877,BMG_DS065331,Median Nerve Entrapment | Median Neuropathy
BMGC_DS16878,BMG_DS065333,Cornelia de Lange Syndrome 1 | Cornelia de Lange syndrome 1 | De Lange Syndrome
BMGC_DS16879,BMG_DS065334,HYPOPLASTIC LEFT HEART SYNDROME 1 | hypoplastic left heart syndrome 1
BMGC_DS16880,BMG_DS065335,Asphyxiating Thoracic Dystrophy 1 | asphyxiating thoracic dystrophy 1
BMGC_DS16881,BMG_DS065336,Vesico-Ureteral Reflux | Vesicoureteral Reflux 1 | vesicoureteral reflux 1
BMGC_DS16882,BMG_DS065337,RUBINSTEIN-TAYBI SYNDROME 1 | Rubinstein-Taybi syndrome due to CREBBP mutations
BMGC_DS16883,BMG_DS065338,Congenita hypotonic - sclerotic muscular dystrophy | Ullrich congenital muscular dystrophy | Ullrich congenital muscular dystrophy (disorder)
BMGC_DS16884,BMG_DS065339,"Telangiectasia, Hereditary Hemorrhagic | Telangiectasia, Hereditary Hemorrhagic, Type 1 | telangiectasia, hereditary hemorrhagic, type 1"
BMGC_DS16885,BMG_DS065340,"Ophthalmoplegia, Progressive Supranuclear | Supranuclear Palsy, Progressive"
BMGC_DS16886,BMG_DS065341,"Supranuclear Palsy, Progressive | Supranuclear Palsy, Progressive, 1 | supranuclear palsy, progressive, 1"
BMGC_DS16887,BMG_DS065342,VAN DER WOUDE SYNDROME 1 | van der Woude syndrome 1
BMGC_DS16888,BMG_DS065343,"Choroidal Dystrophy, Central Areolar 1 | choroidal dystrophy, central areolar, 1"
BMGC_DS16889,BMG_DS065345,Cryopyrin-Associated Periodic Syndromes | Familial Cold Autoinflammatory Syndrome 1 | familial cold autoinflammatory syndrome 1
BMGC_DS16890,BMG_DS065346,"Cholestasis, progressive familial intrahepatic 1 | progressive familial intrahepatic cholestasis 1 | progressive familial intrahepatic cholestasis type 1"
BMGC_DS16891,BMG_DS065347,Summerskill syndrome | benign recurrent intrahepatic cholestasis type 1 | progressive familial intrahepatic cholestasis 1
BMGC_DS16892,BMG_DS065348,OTOSCLEROSIS 1 | otosclerosis 1
BMGC_DS16893,BMG_DS065349,"Craniosynostoses | Craniosynostosis, Type 1 | TWIST1-related craniosynostosis"
BMGC_DS16894,BMG_DS065350,TAPVC - total anomalous pulmonary venous connection | TAPVD - total anomalous pulmonary venous drainage | TAPVR - total anomalous pulmonary venous return | Total anomalous pulmonary venous connection | Total anomalous pulmonary venous return | Total anomalous pulmonary venous return (disorder) | congenital total pulmonary venous return anomaly
BMGC_DS16895,BMG_DS065352,"Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus | Kartagener Syndrome | Kartagener syndrome | primary ciliary dyskinesia 1"
BMGC_DS16896,BMG_DS065353,Acute Inflammatory Demyelinating Polyneuropathy | Guillain-Barre Syndrome | acute inflammatory demyelinating polyradiculoneuropathy
BMGC_DS16897,BMG_DS065355,VAN MALDERGEM SYNDROME 1 | Van Maldergem syndrome 1 | van Maldergem syndrome 1
BMGC_DS16898,BMG_DS065356,inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
BMGC_DS16899,BMG_DS065357,"Myopathies, Structural, Congenital | Myopathy, Centronuclear, 1 | autosomal dominant centronuclear myopathy"
BMGC_DS16900,BMG_DS065358,"MACULAR DYSTROPHY, VITELLIFORM, 1 | vitelliform macular dystrophy 1"
BMGC_DS16901,BMG_DS065359,HYPEREKPLEXIA 1 | hyperekplexia 1
BMGC_DS16902,BMG_DS065360,"Loeys-Dietz Syndrome | Loeys-Dietz Syndrome, Type 1a | Loeys-Dietz syndrome 1"
BMGC_DS16903,BMG_DS065361,"epilepsy, familial temporal lobe, 1"
BMGC_DS16904,BMG_DS065362,"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 | myopathy, lactic acidosis, and sideroblastic anemia 1"
BMGC_DS16905,BMG_DS065363,ATRIAL STANDSTILL 1 | atrial standstill 1
BMGC_DS16906,BMG_DS065364,"Sertoli Cell-Only Syndrome, Type I | spermatogenic failure, Y-linked, 1"
BMGC_DS16907,BMG_DS065365,familial isolated hyperparathyroidism
BMGC_DS16908,BMG_DS065366,"ACNE INVERSA, FAMILIAL, 1 | acne inversa, familial, 1"
BMGC_DS16909,BMG_DS065367,"GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 | gaze palsy, familial horizontal, with progressive scoliosis 1"
BMGC_DS16910,BMG_DS065368,ANAUXETIC DYSPLASIA 1 | anauxetic dysplasia 1
BMGC_DS16911,BMG_DS065369,GLUT1 DEFICIENCY SYNDROME 1 | encephalopathy due to GLUT1 deficiency | glucose transporter type 1 deficiency syndrome 1
BMGC_DS16912,BMG_DS065370,B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | BENTA disease
BMGC_DS16913,BMG_DS065371,"Classical Lissencephalies and Subcortical Band Heterotopias | Lissencephaly, X-Linked, 1 | chromosome 17p13.1 deletion syndrome | lissencephaly type 1 due to doublecortin gene mutation"
BMGC_DS16914,BMG_DS065372,Bilateral Periventricular Nodular Heterotopia | Periventricular Nodular Heterotopia
BMGC_DS16915,BMG_DS065373,"Marble Bones, Autosomal Recessive"
BMGC_DS16916,BMG_DS065374,Mosaic variegated aneuploidy syndrome | Mosaic variegated aneuploidy syndrome (disorder) | mosaic variegated aneuploidy syndrome
BMGC_DS16917,BMG_DS065375,Miyoshi Muscular Dystrophy 1 | Miyoshi muscular dystrophy | Miyoshi muscular dystrophy 1
BMGC_DS16918,BMG_DS065376,"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 | autosomal dominant dyskeratosis congenita 1 | dyskeratosis congenita, autosomal dominant 1"
BMGC_DS16919,BMG_DS065377,RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 | radioulnar synostosis with amegakaryocytic thrombocytopenia 1
BMGC_DS16920,BMG_DS065378,HYPOTRICHOSIS 1 | hypotrichosis 1
BMGC_DS16921,BMG_DS065380,HEIMLER SYNDROME 1 | Heimler syndrome 1
BMGC_DS16922,BMG_DS065381,"Familial Multiple Coagulation Factor Deficiency I | factor V and factor VIII, combined deficiency of, type 1"
BMGC_DS16923,BMG_DS065382,TRICHOHEPATOENTERIC SYNDROME 1 | trichohepatoenteric syndrome 1
BMGC_DS16924,BMG_DS065383,"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 | epilepsy, familial focal, with variable foci 1 | familial focal epilepsy with variable foci 1"
BMGC_DS16925,BMG_DS065384,"ARC (arthrogryposis, renal dysfunction, cholestasis) syndrome | Arthrogryposis with renal dysfunction and cholestasis syndrome | Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | arthrogryposis-renal dysfunction-cholestasis syndrome"
BMGC_DS16926,BMG_DS065385,"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | arterial calcification, generalized, of infancy, 1"
BMGC_DS16927,BMG_DS065386,AMR Syndrome
BMGC_DS16928,BMG_DS065387,Acrofrontofacionasal Dysostosis 1 | acrofrontofacionasal dysostosis 1
BMGC_DS16929,BMG_DS065388,BLEPHAROCHEILODONTIC SYNDROME 1 | blepharocheilodontic syndrome 1
BMGC_DS16930,BMG_DS065390,"Hypobetalipoproteinemia, Familial, 1 | familial hypobetalipoproteinemia 1"
BMGC_DS16931,BMG_DS065391,ANTERIOR SEGMENT DYSGENESIS 1 | anterior segment dysgenesis 1
BMGC_DS16932,BMG_DS065392,"Amyotrophic Lateral Sclerosis, Familial | familial amyotrophic lateral sclerosis"
BMGC_DS16933,BMG_DS065393,Mitochondrial DNA Depletion Syndrome 1 | mitochondrial DNA depletion syndrome 1 | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 8b
BMGC_DS16934,BMG_DS065394,Auriculocondylar syndrome 1 | auriculocondylar syndrome 1
BMGC_DS16935,BMG_DS065395,"Porencephaly | Porencephaly, Type 1, Autosomal Dominant | brain small vessel disease 1 with or without ocular anomalies"
BMGC_DS16936,BMG_DS065396,"MACULAR DYSTROPHY, PATTERNED, 1 | patterned macular dystrophy 1"
BMGC_DS16937,BMG_DS065397,Episodic Kinesigenic Dyskinesia 1 | episodic kinesigenic dyskinesia 1
BMGC_DS16938,BMG_DS065398,MEIER-GORLIN SYNDROME 1 | Meier-Gorlin syndrome 1
BMGC_DS16939,BMG_DS065399,WEILL-MARCHESANI SYNDROME 1 | Weill-Marchesani syndrome 1
BMGC_DS16940,BMG_DS065400,"B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome) | Defective biosynthesis of proteodermatan sulfate | Defective biosynthesis of proteodermatan sulphate | Ehlers-Danlos syndrome progeroid type | Ehlers-Danlos syndrome progeroid type (disorder) | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | Galactosyltransferase I deficiency | Xylosylprotein 4-beta-galactosyltransferase deficiency"
BMGC_DS16941,BMG_DS065401,Distal Myopathies | Distal Myopathy 1 | MYH7-related skeletal myopathy
BMGC_DS16942,BMG_DS065402,Gonadotropin deficiency
BMGC_DS16943,BMG_DS065404,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 | cerebroretinal microangiopathy with calcifications and cysts 1
BMGC_DS16944,BMG_DS065405,"Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus"
BMGC_DS16945,BMG_DS065406,Cortical Dysplasia-Focal Epilepsy Syndrome | cortical dysplasia-focal epilepsy syndrome
BMGC_DS16946,BMG_DS065407,ABDOMINAL OBESITY-METABOLIC SYNDROME 1 | metabolic syndrome X
BMGC_DS16947,BMG_DS065408,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 | focal nonepidermolytic palmoplantar keratoderma 1 | palmoplantar keratoderma, nonepidermolytic, focal 1"
BMGC_DS16948,BMG_DS065409,"Familial Primary Pulmonary Hypertension | Pulmonary Hypertension, Primary, 1 | pulmonary hypertension, primary, 1"
BMGC_DS16949,BMG_DS065410,Infantile Epileptic-Dyskinetic Encephalopathy | infantile epileptic-dyskinetic encephalopathy
BMGC_DS16950,BMG_DS065411,PSEUDO-TORCH SYNDROME 1 | pseudo-TORCH syndrome 1
BMGC_DS16951,BMG_DS065412,Premature Ovarian Failure 1 | Primary Ovarian Insufficiency | premature ovarian failure 1
BMGC_DS16952,BMG_DS065413,"HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME | autosomal dominant hypocalcemia 1"
BMGC_DS16953,BMG_DS065414,"Arthritis, Juvenile | Polyarthritis, Juvenile, Rheumatoid Factor Negative"
BMGC_DS16954,BMG_DS065415,Dowling-Degos disease 1
BMGC_DS16955,BMG_DS065416,"Nevus Sebaceus of Jadassohn | Nevus, Sebaceous of Jadassohn | linear nevus sebaceous syndrome"
BMGC_DS16956,BMG_DS065417,"Colorectal Neoplasms, Hereditary Nonpolyposis | Lynch Syndrome | Lynch syndrome"
BMGC_DS16957,BMG_DS065420,HAE (hereditary angioedema) with C1Inh (C1 esterase inhibitor) deficiency | Hereditary angioedema with C1 esterase inhibitor deficiency | Hereditary angioedema with C1 esterase inhibitor deficiency (disorder) | Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency | Hereditary angioneurotic edema with C1 inhibitor deficiency | Hereditary angioneurotic oedema with C1 inhibitor deficiency | hereditary angioedema with C1Inh deficiency
BMGC_DS16958,BMG_DS065423,"Castleman-Kojima disease | TAFRO (thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly) syndrome | TAFRO syndrome | Thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly syndrome | Thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly syndrome (disorder)"
BMGC_DS16959,BMG_DS065438,"Epilepsy, Absence | Epilepsy, Minor | absence epilepsy"
BMGC_DS16960,BMG_DS065441,Cystic Echinococcosis | Echinococcosis | cystic echinococcosis
BMGC_DS16961,BMG_DS065445,Infantile Obesity | Pediatric Obesity
BMGC_DS16962,BMG_DS065449,"Absence Seizure Disorder | Epilepsy, Absence | absence epilepsy"
BMGC_DS16963,BMG_DS065452,"Carney complex variant | Carney complex, trismus, pseudocamptodactyly syndrome | Carney complex, trismus, pseudocamptodactyly syndrome (disorder)"
BMGC_DS16964,BMG_DS065453,specific language disorder
BMGC_DS16965,BMG_DS065454,Common Peroneal Nerve Entrapment | Peroneal Neuropathies
BMGC_DS16966,BMG_DS065455,CLCN2 (chloride voltage-gated channel 2) related leucoencephalopathy | CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy | CLCN2-related leucoencephalopathy | CLCN2-related leukoencephalopathy | Leucoencephalopathy with ataxia | Leucoencephalopathy with mild cerebellar ataxia and white matter oedema | Leukoencephalopathy with ataxia | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) | leukoencephalopathy with mild cerebellar ataxia and white matter edema
BMGC_DS16967,BMG_DS065498,"FANCONI ANEMIA, COMPLEMENTATION GROUP S | Fanconi anemia complementation group S | Fanconi anemia, complementation group S"
BMGC_DS16968,BMG_DS065499,"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 | amyloidosis, primary localized cutaneous, 3 | primary localized cutaneous amyloidosis 3"
BMGC_DS16969,BMG_DS065500,Pressure injury | Pressure injury (disorder) | Pressure injury (morphologic abnormality) | decubitus ulcer
BMGC_DS16970,BMG_DS065501,Amyloidosis cutis dyschromia | Amyloidosis cutis dyschromia (disorder) | Amyloidosis cutis dyschromica | amyloidosis cutis dyschromia
BMGC_DS16971,BMG_DS065505,"PROTOPORPHYRIA, ERYTHROPOIETIC, 1 | protoporphyria, erythropoietic, 1"
BMGC_DS16972,BMG_DS065506,"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | tumoral calcinosis, hyperphosphatemic, familial, 1"
BMGC_DS16973,BMG_DS065507,MANDIBULOFACIAL DYSOSTOSIS WITH IMPAIRED INTELLECTUAL DEVELOPMENT | mandibulofacial dysostosis with mental deficiency
BMGC_DS16974,BMG_DS065508,SHWACHMAN-DIAMOND SYNDROME 1 | Shwachman-Diamond syndrome 1
BMGC_DS16975,BMG_DS065509,"intellectual disability, X-linked 107"
BMGC_DS16976,BMG_DS065510,"blepharospasm, benign essential, susceptibility to"
BMGC_DS16977,BMG_DS065512,"SEIZURES, BENIGN FAMILIAL INFANTILE, 6 | autosomal dominant nocturnal frontal lobe epilepsy 4 | benign familial infantile seizures 6"
BMGC_DS16978,BMG_DS065515,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ibb | congenital disorder of glycosylation, type Ibb"
BMGC_DS16979,BMG_DS065517,"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive"
BMGC_DS16980,BMG_DS065518,ALKURAYA-KUCINSKAS SYNDROME | Alkuraya-Kucinskas syndrome
BMGC_DS16981,BMG_DS065520,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 | developmental and epileptic encephalopathy 92
BMGC_DS16982,BMG_DS065521,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | developmental and epileptic encephalopathy 58 | developmental and epileptic encephalopathy, 58"
BMGC_DS16983,BMG_DS065522,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | autosomal dominant intellectual developmental disorder 55 | intellectual disability, autosomal dominant 55, with seizures"
BMGC_DS16984,BMG_DS065523,DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | developmental delay and seizures with or without movement abnormalities
BMGC_DS16985,BMG_DS065524,amyotrophic lateral sclerosis type 23
BMGC_DS16986,BMG_DS065525,"intellectual disability, autosomal dominant 56"
BMGC_DS16987,BMG_DS065526,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"
BMGC_DS16988,BMG_DS065527,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES | neurodevelopmental disorder with or without seizures and gait abnormalities
BMGC_DS16989,BMG_DS065528,"NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES | neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features"
BMGC_DS16990,BMG_DS065531,SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY | short-rib thoracic dysplasia 18 with polydactyly
BMGC_DS16991,BMG_DS065532,RETINITIS PIGMENTOSA 81 | retinitis pigmentosa 81
BMGC_DS16992,BMG_DS065533,Syndromic sensorineural deafness due to COXPD (combined oxidative phosphorylation defect) | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (disorder) | Syndromic sensorineural hearing loss due to COXPD (combined oxidative phosphorylation defect) | combined oxidative phosphorylation deficiency 34
BMGC_DS16993,BMG_DS065534,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | combined oxidative phosphorylation deficiency 35
BMGC_DS16994,BMG_DS065535,POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS | polycystic liver disease 3 | polycystic liver disease 3 with or without kidney cysts
BMGC_DS16995,BMG_DS065536,POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS | polycystic liver disease 4 | polycystic liver disease 4 with or without kidney cysts
BMGC_DS16996,BMG_DS065538,LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS | Leber congenital amaurosis with early-onset deafness
BMGC_DS16997,BMG_DS065539,"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G | Charcot-Marie-Tooth disease dominant intermediate G | Charcot-Marie-Tooth disease, dominant intermediate G"
BMGC_DS16998,BMG_DS065540,"amyotrophic lateral sclerosis, susceptibility to, 24"
BMGC_DS16999,BMG_DS065541,SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 19 with or without polydactyly
BMGC_DS17000,BMG_DS065542,MULTIPLE SYNOSTOSES SYNDROME 4 | multiple synostoses syndrome 4
BMGC_DS17001,BMG_DS065543,"LEUKODYSTROPHY, HYPOMYELINATING, 14 | hypomyelinating leukodystrophy 14 | leukodystrophy, hypomyelinating, 14"
BMGC_DS17002,BMG_DS065544,"encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8"
BMGC_DS17003,BMG_DS065545,NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | neurodevelopmental disorder with poor language and loss of hand skills
BMGC_DS17004,BMG_DS065546,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 | developmental and epileptic encephalopathy 59 | developmental and epileptic encephalopathy, 59"
BMGC_DS17005,BMG_DS065547,"ERYTHROCYTOSIS, FAMILIAL, 5 | erythrocytosis, familial, 5 | familial erythrocytosis 5"
BMGC_DS17006,BMG_DS065548,DIAMOND-BLACKFAN ANEMIA-LIKE | Diamond-Blackfan anemia-like
BMGC_DS17007,BMG_DS065549,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 | congenital heart defects, multiple types, 5"
BMGC_DS17008,BMG_DS065550,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"
BMGC_DS17009,BMG_DS065551,"microcephaly 20, primary, autosomal recessive"
BMGC_DS17010,BMG_DS065552,"HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome"
BMGC_DS17011,BMG_DS065553,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 | neurodegeneration with brain iron accumulation 7
BMGC_DS17012,BMG_DS065554,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 | neurodegeneration with brain iron accumulation 8
BMGC_DS17013,BMG_DS065555,"amyotrophic lateral sclerosis, susceptibility to, 25"
BMGC_DS17014,BMG_DS065556,"epilepsy, juvenile myoclonic, susceptibility to, 10"
BMGC_DS17015,BMG_DS065557,SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY | short-rib thoracic dysplasia 20 with polydactyly
BMGC_DS17016,BMG_DS065558,OROFACIODIGITAL SYNDROME XVII | orofaciodigital syndrome 17 | orofaciodigital syndrome XVII
BMGC_DS17017,BMG_DS065559,KERATOCONUS 9 | keratoconus 9
BMGC_DS17018,BMG_DS065560,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 | developmental and epileptic encephalopathy 60 | developmental and epileptic encephalopathy, 60"
BMGC_DS17019,BMG_DS065561,CHROMOSOME 1p35 DELETION SYNDROME | chromosome 1p35 deletion syndrome
BMGC_DS17020,BMG_DS065562,"PADDAS syndrome | PUM1-associated developmental disability, ataxia, seizure syndrome | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) | SCA47 - spinocerebellar ataxia type 47 | spinocerebellar ataxia 47"
BMGC_DS17021,BMG_DS065563,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61 | developmental and epileptic encephalopathy 61 | developmental and epileptic encephalopathy, 61"
BMGC_DS17022,BMG_DS065564,"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 | epilepsy, familial focal, with variable foci 4 | familial focal epilepsy with variable foci 4"
BMGC_DS17023,BMG_DS065565,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62 | developmental and epileptic encephalopathy 62 | developmental and epileptic encephalopathy, 62"
BMGC_DS17024,BMG_DS065566,SHWACHMAN-DIAMOND SYNDROME 2 | Shwachman-Diamond syndrome 2
BMGC_DS17025,BMG_DS065567,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 | combined oxidative phosphorylation deficiency 36
BMGC_DS17026,BMG_DS065568,"LEUKODYSTROPHY, HYPOMYELINATING, 15 | hypomyelinating leukodystrophy 15 | leukodystrophy, hypomyelinating, 15"
BMGC_DS17027,BMG_DS065569,"OSTEOGENESIS IMPERFECTA, TYPE XVIII | osteogenesis imperfecta type 18 | osteogenesis imperfecta, type 18"
BMGC_DS17028,BMG_DS065570,Multiple mitochondrial dysfunctions syndrome type 6 | Multiple mitochondrial dysfunctions syndrome type 6 (disorder) | PMPCB (peptidase mitochondrial processing subunit beta) deficiency | PMPCB deficiency | multiple mitochondrial dysfunctions syndrome 6
BMGC_DS17029,BMG_DS065571,SPERMATOGENIC FAILURE 24 | spermatogenic failure 24
BMGC_DS17030,BMG_DS065572,SPERMATOGENIC FAILURE 25 | spermatogenic failure 25
BMGC_DS17031,BMG_DS065574,SPERMATOGENIC FAILURE 26 | spermatogenic failure 26
BMGC_DS17032,BMG_DS065575,"LEUKODYSTROPHY, HYPOMYELINATING, 16 | hypomyelinating leukodystrophy 16 | leukodystrophy, hypomyelinating, 16"
BMGC_DS17033,BMG_DS065576,SPERMATOGENIC FAILURE 27 | spermatogenic failure 27
BMGC_DS17034,BMG_DS065577,"RH-NULL, AMORPH TYPE"
BMGC_DS17035,BMG_DS065578,"METHEMOGLOBINEMIA, ALPHA TYPE | methemoglobinemia, alpha type"
BMGC_DS17036,BMG_DS065579,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE | spondyloepimetaphyseal dysplasia, di rocco type"
BMGC_DS17037,BMG_DS065580,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 | developmental and epileptic encephalopathy 63 | developmental and epileptic encephalopathy, 63"
BMGC_DS17038,BMG_DS065581,NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
BMGC_DS17039,BMG_DS065582,"ERYTHROCYTOSIS, FAMILIAL, 6 | erythrocytosis, familial, 6 | familial erythrocytosis 6"
BMGC_DS17040,BMG_DS065583,"ERYTHROCYTOSIS, FAMILIAL, 7 | erythrocytosis, familial, 7 | familial erythrocytosis 7"
BMGC_DS17041,BMG_DS065584,VERVERI-BRADY SYNDROME | Ververi-Brady syndrome
BMGC_DS17042,BMG_DS065585,"MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 21, primary, autosomal recessive"
BMGC_DS17043,BMG_DS065586,"MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 22, primary, autosomal recessive"
BMGC_DS17044,BMG_DS065587,"MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 23, primary, autosomal recessive"
BMGC_DS17045,BMG_DS065588,JABERI-ELAHI SYNDROME | Jaberi-Elahi syndrome
BMGC_DS17046,BMG_DS065589,"Chung Jansen syndrome | PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (disorder) | Pleckstrin homology domain interacting protein-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome"
BMGC_DS17047,BMG_DS065590,"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 | tumoral calcinosis, hyperphosphatemic, familial, 2"
BMGC_DS17048,BMG_DS065591,"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 | tumoral calcinosis, hyperphosphatemic, familial, 3"
BMGC_DS17049,BMG_DS065592,oocyte maturation defect 5
BMGC_DS17050,BMG_DS065593,"AEBP1-related EDS (Ehlers-Danlos syndrome) | AEBP1-related Ehlers-Danlos syndrome | Classical-like Ehlers-Danlos syndrome type 2 | Classical-like Ehlers-Danlos syndrome type 2 (disorder) | Ehlers-Danlos syndrome, classic-like, 2"
BMGC_DS17051,BMG_DS065594,"DEAFNESS, AUTOSOMAL RECESSIVE 57 | autosomal recessive nonsyndromic deafness 57 | hearing loss, autosomal recessive 57"
BMGC_DS17052,BMG_DS065595,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 | developmental and epileptic encephalopathy 64 | developmental and epileptic encephalopathy, 64"
BMGC_DS17053,BMG_DS065596,CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 | congenital disorder of glycosylation with defective fucosylation
BMGC_DS17054,BMG_DS065597,"LEUKODYSTROPHY, HYPOMYELINATING, 17 | hypomyelinating leukodystrophy 17 | leukodystrophy, hypomyelinating, 17"
BMGC_DS17055,BMG_DS065598,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 | developmental and epileptic encephalopathy 65 | developmental and epileptic encephalopathy, 65"
BMGC_DS17056,BMG_DS065599,HYPEREKPLEXIA 4 | hyperekplexia 4
BMGC_DS17057,BMG_DS065600,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 | developmental and epileptic encephalopathy 93
BMGC_DS17058,BMG_DS065601,"DEAFNESS, AUTOSOMAL RECESSIVE 109 | autosomal recessive nonsyndromic deafness 109 | hearing loss, autosomal recessive 109"
BMGC_DS17059,BMG_DS065602,PREMATURE OVARIAN FAILURE 14 | premature ovarian failure 14 | primary ovarian insufficiency 14
BMGC_DS17060,BMG_DS065603,"PROTOPORPHYRIA, ERYTHROPOIETIC, 2 | protoporphyria, erythropoietic, 2"
BMGC_DS17061,BMG_DS065604,"DRUG METABOLISM, ALTERED, CYP2C8-RELATED"
BMGC_DS17062,BMG_DS065616,"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | methylmalonic aciduria and homocystinuria type cblC"
BMGC_DS17063,BMG_DS065639,"HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE"
BMGC_DS17064,BMG_DS065640,17-beta hydroxysteroid dehydrogenase 3 deficiency | POLYCYSTIC OVARY SYNDROME DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY
BMGC_DS17065,BMG_DS065642,congenital disorder of glycosylation type I
BMGC_DS17066,BMG_DS065657,Tessier number 4 facial cleft
BMGC_DS17067,BMG_DS065658,Cytomegalovirus Infections | Severe Cytomegalovirus Infection
BMGC_DS17068,BMG_DS065665,Cone Dystrophy | Stationary Cone Dystrophy | cone dystrophy
BMGC_DS17069,BMG_DS065666,"Arthritis, Juvenile | Polyarthritis, Juvenile, Rheumatoid Factor Positive"
BMGC_DS17070,BMG_DS065667,"Candidiasis, Vulvovaginal | Genital Vulvovaginal Candidiasis"
BMGC_DS17071,BMG_DS065668,Fibrocystic Dysplasia of Bone | Fibrous Dysplasia of Bone
BMGC_DS17072,BMG_DS065669,Fibrocartilaginous Dysplasia of Bone | Fibrous Dysplasia of Bone
BMGC_DS17073,BMG_DS065670,"Maternal Sepsis | Pregnancy Complications, Infectious"
BMGC_DS17074,BMG_DS065671,Posterior Interosseous Nerve Syndrome | Radial Neuropathy
BMGC_DS17075,BMG_DS065672,Femoral Nerve Dysfunction | Femoral Neuropathy
BMGC_DS17076,BMG_DS065675,2q33.1 microdeletion syndrome | 2q33.1 microdeletion syndrome (disorder) | Monosomy 2q33.1
BMGC_DS17077,BMG_DS065678,COXPD13 - combined oxidative phosphorylation defect type 13 | Combined oxidative phosphorylation defect type 13 | Combined oxidative phosphorylation defect type 13 (disorder) | combined oxidative phosphorylation defect type 13
BMGC_DS17078,BMG_DS065683,COXPD15 - combined oxidative phosphorylation defect type 15 | Combined oxidative phosphorylation defect type 15 | Combined oxidative phosphorylation defect type 15 (disorder) | combined oxidative phosphorylation defect type 15
BMGC_DS17079,BMG_DS065684,COXPD9 - combined oxidative phosphorylation defect type 9 | Combined oxidative phosphorylation defect type 9 | Combined oxidative phosphorylation defect type 9 (disorder) | combined oxidative phosphorylation defect type 9
BMGC_DS17080,BMG_DS065685,COXPD21 - combined oxidative phosphorylation defect type 21 | Combined oxidative phosphorylation defect type 21 | Combined oxidative phosphorylation defect type 21 (disorder) | combined oxidative phosphorylation defect type 21
BMGC_DS17081,BMG_DS065695,"Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder)"
BMGC_DS17082,BMG_DS065696,acute myeloid leukemia with NPM1 somatic mutations
BMGC_DS17083,BMG_DS065700,Congenital myopathy with myasthenic-like onset | Congenital myopathy with myasthenic-like onset (disorder) | congenital myopathy with myasthenic-like onset
BMGC_DS17084,BMG_DS065703,"Bone fragility, contractures, arterial rupture, deafness syndrome | Bone fragillity, contractures, arterial rupture, deafness syndrome | Connective tissue disorder due to LH3 deficiency | Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Connective tissue disorder due to lysyl hydroxylase-3 deficiency (disorder)"
BMGC_DS17085,BMG_DS065704,"Fetal akinesia, cerebral and retinal haemorrhage syndrome | Fetal akinesia, cerebral and retinal hemorrhage syndrome | Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder) | Foetal akinesia, cerebral and retinal haemorrhage syndrome | Lethal congenital contracture syndrome type 5 | fetal akinesia-cerebral and retinal hemorrhage syndrome"
BMGC_DS17086,BMG_DS065705,Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency | Autosomal recessive cerebellar ataxia with late-onset spasticity | Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder) | autosomal recessive cerebellar ataxia with late-onset spasticity
BMGC_DS17087,BMG_DS065706,Progressive myoclonic epilepsy with dystonia | Progressive myoclonic epilepsy with dystonia (disorder) | Progressive myoclonus epilepsy with dystonia | progressive myoclonic epilepsy with dystonia
BMGC_DS17088,BMG_DS065707,"Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome (disorder) | intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"
BMGC_DS17089,BMG_DS065708,"Autosomal recessive cerebellar ataxia, cognitive defect syndrome | Autosomal recessive spinocerebellar ataxia type 14 | Spectrin-associated autosomal recessive cerebellar ataxia | Spectrin-associated autosomal recessive cerebellar ataxia (disorder) | Spectrin-associated autosomal recessive cerebellar ataxia type 1 | autosomal recessive spinocerebellar ataxia 14"
BMGC_DS17090,BMG_DS065709,"COXPD12 - combined oxidative phosphorylation defect type 12 | Combined oxidative phosphorylation defect type 12 | Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome | Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"
BMGC_DS17091,BMG_DS065710,Familial progressive hyper and hypopigmentation | Familial progressive hyperpigmentation and hypopigmentation of skin | Familial progressive hyperpigmentation and hypopigmentation of skin (disorder) | familial progressive hyper- and hypopigmentation
BMGC_DS17092,BMG_DS065719,3p syndrome | 3p- syndrome | Distal 3p deletion | Distal monosomy 3p | Distal monosomy 3p syndrome | Distal monosomy 3p syndrome (disorder)
BMGC_DS17093,BMG_DS065722,Hot water reflex epilepsy | Hot water reflex epilepsy (disorder) | hot water reflex epilepsy
BMGC_DS17094,BMG_DS065728,Severe combined immunodeficiency due to CTPS1 deficiency | Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency | Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder)
BMGC_DS17095,BMG_DS065732,"Deafness, encephaloneuropathy, obesity, valvulopathy syndrome | Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder) | Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome"
BMGC_DS17096,BMG_DS065733,ICL - idiopathic CD4 lymphocytopenia | Idiopathic CD4 lymphocytopenia | Idiopathic CD4 lymphocytopenia (disorder)
BMGC_DS17097,BMG_DS065734,Familial hyperprolactinaemia | Familial hyperprolactinemia | Familial hyperprolactinemia (disorder) | Familial isolated prolactin receptor deficiency | familial hyperprolactinemia
BMGC_DS17098,BMG_DS065735,familial vesicoureteral reflux
BMGC_DS17099,BMG_DS065737,Hypermethioninaemia encephalopathy due to ADK (adenosine kinase) deficiency | Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase | Hypermethioninemia encephalopathy due to ADK (adenosine kinase) deficiency | Hypermethioninemia encephalopathy due to deficiency of adenosine kinase | Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | adenosine kinase deficiency
BMGC_DS17100,BMG_DS065738,"Hypotonia, speech impairment, severe cognitive delay syndrome | Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) | IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome | hypotonia, infantile, with psychomotor retardation and characteristic facies"
BMGC_DS17101,BMG_DS065740,"Intellectual disability, alacrima, achalasia syndrome | Intellectual disability, alacrima, achalasia syndrome (disorder) | alacrima, achalasia, and intellectual disability syndrome"
BMGC_DS17102,BMG_DS065744,Macrocephaly and developmental delay syndrome | Macrocephaly and developmental delay syndrome (disorder)
BMGC_DS17103,BMG_DS065745,KLHL9-related early-onset distal myopathy | Kelch like family member 9 related early-onset distal myopathy | Kelch like family member 9 related early-onset distal myopathy (disorder)
BMGC_DS17104,BMG_DS065746,"Larsen-like syndrome B3GAT3 type | Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type | Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) | Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome"
BMGC_DS17105,BMG_DS065749,megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
BMGC_DS17106,BMG_DS065750,"Microcephalus, complex motor and sensory axonal neuropathy syndrome | Microcephalus, complex motor and sensory axonal neuropathy syndrome (disorder) | Microcephaly, complex motor and sensory axonal neuropathy syndrome | microcephaly-complex motor and sensory axonal neuropathy syndrome"
BMGC_DS17107,BMG_DS065752,Oculoauricular syndrome Schorderet type | Oculoauricular syndrome Schorderet type (disorder)
BMGC_DS17108,BMG_DS065757,"Microcephaly, cerebral malformation, orofaciodigital syndrome | Oro-facial digital syndrome type 14 | Oro-facial digital syndrome type 14 (disorder) | Orofaciodigital syndrome type 14 | orofaciodigital syndrome type 14"
BMGC_DS17109,BMG_DS065760,SHOX (short stature homeobox) related short stature | SHOX-related short stature | Short stature homeobox related short stature | Short stature homeobox related short stature (disorder)
BMGC_DS17110,BMG_DS065782,Spondyloperipheral dysplasia with short ulna syndrome | Spondyloperipheral dysplasia with short ulna syndrome (disorder)
BMGC_DS17111,BMG_DS065785,Short stature with delayed bone age due to thyroid hormone metabolism deficiency | Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
BMGC_DS17112,BMG_DS065786,"Ataxia, delayed dentition, hypomyelination syndrome | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)"
BMGC_DS17113,BMG_DS065787,Male infertility with teratozoospermia due to single gene mutation | Male infertility with teratozoospermia due to single gene mutation (disorder) | male infertility with teratozoospermia due to single gene mutation
BMGC_DS17114,BMG_DS065795,Keratoderma with woolly hair type IV | Keratoderma with wooly hair type IV | Woolly hair with palmoplantar keratoderma syndrome | Wooly hair with palmoplantar keratoderma syndrome | Wooly hair with palmoplantar keratoderma syndrome (disorder) | palmoplantar keratoderma and woolly hair
BMGC_DS17115,BMG_DS065826,CA-VA (carbonic anhydrase VA) deficiency | CA5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | Carbonic anhydrase 5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | Carbonic anhydrase VA deficiency | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
BMGC_DS17116,BMG_DS065837,familial isolated trichomegaly
BMGC_DS17117,BMG_DS065845,Distal 17p13.3 microdeletion syndrome | Distal 17p13.3 microdeletion syndrome (disorder) | Distal monosomy 17p13.3 | distal 17p13.3 microdeletion syndrome
BMGC_DS17118,BMG_DS065849,"Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency | PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome | Progressive external ophthalmoplegia, myopathy, emaciation syndrome | Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)"
BMGC_DS17119,BMG_DS065853,Autosomal recessive myogenic arthrogryposis multiplex congenita | Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) | SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita | SYNE1-related arthrogryposis multiplex congenita | autosomal recessive myogenic arthrogryposis multiplex congenita
BMGC_DS17120,BMG_DS065854,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder) | autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
BMGC_DS17121,BMG_DS065855,acute myeloid leukemia with CEBPA somatic mutations
BMGC_DS17122,BMG_DS065857,"Absent tibia polydactyly syndrome | Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder)"
BMGC_DS17123,BMG_DS065859,inherited acute myeloid leukemia
BMGC_DS17124,BMG_DS065860,"Colobomatous microphthalmia, rhizomelic dysplasia syndrome | Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Microphthalmia, coloboma, rhizomelic skeletal dysplasia"
BMGC_DS17125,BMG_DS065861,Centronuclear myopathy type 4 | Congenital myopathy with internal nuclei and atypical cores | Congenital myopathy with internal nuclei and atypical cores (disorder) | congenital myopathy with internal nuclei and atypical cores
BMGC_DS17126,BMG_DS065865,Keratosis palmoplantaris striata | Keratosis palmoplantaris striata et areata | Keratosis palmoplantaris varians of Wachters | Striate palmoplantar keratoderma | Striate palmoplantar keratoderma (disorder) | striate palmoplantar keratoderma
BMGC_DS17127,BMG_DS065866,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency | Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
BMGC_DS17128,BMG_DS065867,Hepatoencephalopathy due to COXPD1 (combined oxidative phosphorylation defect type 1) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)
BMGC_DS17129,BMG_DS065869,Familial TAAD (thoracic aortic aneurysm aortic dissection) | Familial thoracic aortic aneurysm and aortic dissection | Familial thoracic aortic aneurysm and aortic dissection (disorder) | familial thoracic aortic aneurysm and aortic dissection
BMGC_DS17130,BMG_DS065872,Muscle filaminopathy | Muscle filaminopathy (disorder)
BMGC_DS17131,BMG_DS065878,"Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) | Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome | focal epilepsy-intellectual disability-cerebro-cerebellar malformation"
BMGC_DS17132,BMG_DS065879,"Rolandic epilepsy, speech dyspraxia syndrome | Rolandic epilepsy, speech dyspraxia syndrome (disorder) | rolandic epilepsy-speech dyspraxia syndrome"
BMGC_DS17133,BMG_DS065881,MCEE-gene related methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency | MCEE-gene related methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency | Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency | Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency | Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)
BMGC_DS17134,BMG_DS065886,sporadic pheochromocytoma/secreting paraganglioma
BMGC_DS17135,BMG_DS065887,SCIDX1 - severe combined immunodeficiency X-linked | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder) | T-B+ severe combined immunodeficiency due to gamma chain deficiency
BMGC_DS17136,BMG_DS065890,SCID (severe combined immunodeficiency) due to complete RAG1/2 deficiency | Severe combined immunodeficiency due to complete RAG1 (recombination activating gene 1) and/or RAG2 (recombination activating gene 2) deficiency | Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency | Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency | Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency (disorder)
BMGC_DS17137,BMG_DS065892,Familial generalised lentiginosis | Familial generalized lentiginosis | Familial generalized lentiginosis (disorder) | Familial lentigines profusa | Familial multiple lentigines syndrome without systemic involvement
BMGC_DS17138,BMG_DS065893,Distal myotilinopathy | Distal myotilinopathy (disorder)
BMGC_DS17139,BMG_DS065894,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (disorder) | symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
BMGC_DS17140,BMG_DS065895,familial multiple meningioma
BMGC_DS17141,BMG_DS065909,"Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)"
BMGC_DS17142,BMG_DS065929,Acute encephalopathy with biphasic seizures and late reduced diffusion | Acute encephalopathy with biphasic seizures and late reduced diffusion (disorder) | Acute infantile encephalopathy predominantly affecting frontal lobe | acute encephalopathy with biphasic seizures and late reduced diffusion
BMGC_DS17143,BMG_DS065933,15q26 deletion syndrome | Distal 15q deletion syndrome | Distal monosomy 15q | Distal monosomy 15q syndrome | Distal monosomy 15q syndrome (disorder) | Monosomy 15q26 | Telomeric 15q deletion syndrome
BMGC_DS17144,BMG_DS065953,Multiple epiphyseal dysplasia due to collagen 9 anomaly | Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder) | multiple epiphyseal dysplasia due to collagen 9 anomaly
BMGC_DS17145,BMG_DS065962,1p31p32 microdeletion syndrome | 1p31p32 microdeletion syndrome (disorder) | Monosomy 1p31p32 | chromosome 1p32-p31 deletion syndrome
BMGC_DS17146,BMG_DS065963,Autosomal recessive spastic paraplegia type 67 | Autosomal recessive spastic paraplegia type 67 (disorder) | autosomal recessive spastic paraplegia type 67
BMGC_DS17147,BMG_DS065968,Ghrelin receptor deficiency | Short stature due to GHSR (growth hormone secretagogue receptor) deficiency | Short stature due to GHSR deficiency | Short stature due to growth hormone secretagogue receptor deficiency | Short stature due to growth hormone secretagogue receptor deficiency (disorder)
BMGC_DS17148,BMG_DS065969,X-linked non progressive cerebellar ataxia | X-linked non progressive cerebellar ataxia (disorder) | X-linked spinocerebellar ataxia type 5
BMGC_DS17149,BMG_DS065971,"Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome | Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)"
BMGC_DS17150,BMG_DS065974,Diencephalic mesencephalic junction dysplasia | Diencephalic mesencephalic junction dysplasia (disorder) | diencephalic-mesencephalic junction dysplasia
BMGC_DS17151,BMG_DS065977,Combined immunodeficiency due to OX40 deficiency | Combined immunodeficiency due to OX40 deficiency (disorder) | Combined immunodeficiency with childhood-onset Kaposi sarcoma
BMGC_DS17152,BMG_DS065978,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation | Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation (disorder)
BMGC_DS17153,BMG_DS065980,Hypomyelination neuropathy arthrogryposis syndrome | Hypomyelination neuropathy arthrogryposis syndrome (disorder)
BMGC_DS17154,BMG_DS065983,isolated unilateral hemispheric cerebellar hypoplasia
BMGC_DS17155,BMG_DS065986,Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type | Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency | Severe early-onset axonal neuropathy due to MFN2 deficiency | Severe early-onset axonal neuropathy due to mitofusin 2 deficiency | Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) | severe early-onset axonal neuropathy due to MFN2 deficiency
BMGC_DS17156,BMG_DS065991,Immunodeficiency due to ficolin 3 deficiency | Immunodeficiency due to ficolin 3 deficiency (disorder) | Immunodeficiency due to ficolin-3 deficiency
BMGC_DS17157,BMG_DS066017,Anaemia due to and following chemotherapy | Anemia due to and following chemotherapy | Anemia due to and following chemotherapy (disorder)
BMGC_DS17158,BMG_DS066048,"PURA (purine rich element binding protein A) syndrome | PURA syndrome | PURA-related neurodevelopmental disorder | PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome | Purine rich element binding protein A syndrome | Purine rich element binding protein A syndrome (disorder)"
BMGC_DS17159,BMG_DS066052,"5q31.3 microdeletion syndrome | 5q31.3 microdeletion syndrome (disorder) | Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion | severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"
BMGC_DS17160,BMG_DS066077,coloboma of choroid and retina
BMGC_DS17161,BMG_DS066092,Vaso-occlusive pain co-occurrent and due to sickle cell disease | Vaso-occlusive pain co-occurrent and due to sickle cell disease (disorder) | Vaso-occlusive pain episode in sickle cell disease | Vasoocclusive pain episode in sickle cell disease
BMGC_DS17162,BMG_DS066184,Heterophoria | Latent squint | Phoria | Phoria (disorder) | Strabismus
BMGC_DS17163,BMG_DS066185,"Angioma serpiginosum, X-linked | angioma serpiginosum, X-linked"
BMGC_DS17164,BMG_DS066188,mantle cell lymphoma
BMGC_DS17165,BMG_DS066189,"thyroid cancer, nonmedullary, 1"
BMGC_DS17166,BMG_DS066190,"Charcot-Marie-Tooth disease type 4E | NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE"
BMGC_DS17167,BMG_DS066191,"Charcot-Marie-Tooth disease, Type 4E"
BMGC_DS17168,BMG_DS066196,Peripheral Nervous System Diseases
BMGC_DS17169,BMG_DS066197,Peripheral dysostosis | Peripheral dysostosis (disorder) | peripheral dysostosis
BMGC_DS17170,BMG_DS066199,"Alveolitis, Fibrosing | Pulmonary Fibrosis"
BMGC_DS17171,BMG_DS066200,Idiopathic Pulmonary Fibrosis | Usual Interstitial Pneumonia
BMGC_DS17172,BMG_DS066201,"lymphoma, non-Hodgkin, familial"
BMGC_DS17173,BMG_DS066202,PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | peroxisome biogenesis disorder 1A | peroxisome biogenesis disorder 1A (Zellweger)
BMGC_DS17174,BMG_DS066203,Autosomal dominant neovascular inflammatory vitreoretinopathy | Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) | CAPN5-related vitreoretinopathy
BMGC_DS17175,BMG_DS066204,Autoimmune hepatitis | Autoimmune hepatitis (disorder) | Chronic active hepatitis | Chronic active hepatitis (disorder) | autoimmune hepatitis
BMGC_DS17176,BMG_DS066205,ovarian carcinoma
BMGC_DS17177,BMG_DS066207,Citrullinemia | Citrullinemia Type 1 | citrullinemia type I
BMGC_DS17178,BMG_DS066210,skin basal cell carcinoma
BMGC_DS17179,BMG_DS066212,"Marfan Syndrome | Marfan Syndrome, Type I"
BMGC_DS17180,BMG_DS066213,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)"
BMGC_DS17181,BMG_DS066214,"MYOPATHY, MYOFIBRILLAR, 4 | myofibrillar myopathy 4"
BMGC_DS17182,BMG_DS066215,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A | Charcot-Marie-Tooth disease type 2A2"
BMGC_DS17183,BMG_DS066216,Congenital External Ophthalmoplegia | congenital fibrosis of the extraocular muscles
BMGC_DS17184,BMG_DS066217,SPERMATOGENIC FAILURE 3 | spermatogenic failure 3
BMGC_DS17185,BMG_DS066218,"CATARACT 2, MULTIPLE TYPES | cataract 2, multiple types"
BMGC_DS17186,BMG_DS066219,"HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT | renal hypomagnesemia 5 with ocular involvement"
BMGC_DS17187,BMG_DS066221,POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
BMGC_DS17188,BMG_DS066222,"Charcot-Marie-Tooth disease type 5 | Hereditary Motor-Sensory Neuropathy with Pyramidal Signs | Spastic Paraplegia, Hereditary"
BMGC_DS17189,BMG_DS066224,Familial Idiopathic Pulmonary Fibrosis | Idiopathic Pulmonary Fibrosis
BMGC_DS17190,BMG_DS066228,Hypoprothrombinemias | prothrombin deficiency
BMGC_DS17191,BMG_DS066229,"epidermodysplasia verruciformis, susceptibility to, 2"
BMGC_DS17192,BMG_DS066230,"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV | isolated growth hormone deficiency, type 4"
BMGC_DS17193,BMG_DS066232,"NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 | neuropathy, congenital hypomyelinating, 2"
BMGC_DS17194,BMG_DS066234,"HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | combined immunodeficiency due to DOCK8 deficiency | hyper IgE recurrent infection syndrome 2"
BMGC_DS17195,BMG_DS066237,"prostate cancer, hereditary, 1"
BMGC_DS17196,BMG_DS066239,Generalized Thyroid Hormone Resistance | Thyroid Hormone Resistance Syndrome | generalized resistance to thyroid hormone
BMGC_DS17197,BMG_DS066242,MOYAMOYA DISEASE 6 WITH ACHALASIA
BMGC_DS17198,BMG_DS066243,"ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION | encephalitis/encephalopathy, mild, with reversible myelin vacuolization"
BMGC_DS17199,BMG_DS066244,FACU - familial atypical cold urticaria | Familial cold urticaria with common variable immunodeficiency | PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation | PLCG2-associated antibody deficiency and immune dysregulation | Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder)
BMGC_DS17200,BMG_DS066247,"epidermodysplasia verruciformis, susceptibility to, 1"
BMGC_DS17201,BMG_DS066252,telomere syndrome
BMGC_DS17202,BMG_DS066256,PIK3CA-related overgrowth spectrum
BMGC_DS17203,BMG_DS066278,LYMPHATIC MALFORMATION 5 | lymphatic malformation 5
BMGC_DS17204,BMG_DS066279,"ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | autosomal recessive Alport syndrome"
BMGC_DS17205,BMG_DS066280,"MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1"
BMGC_DS17206,BMG_DS066281,ORTHOSTATIC HYPOTENSION 1 | orthostatic hypotension 1
BMGC_DS17207,BMG_DS066284,proteasome-associated autoinflammatory syndrome 1
BMGC_DS17208,BMG_DS066290,"osteogenesis imperfecta, type 19"
BMGC_DS17209,BMG_DS066291,"HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED | X-linked congenital hemolytic anemia"
BMGC_DS17210,BMG_DS066292,"DEAFNESS, X-LINKED 7 | X-linked deafness 7 | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"
BMGC_DS17211,BMG_DS066293,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 | mitochondrial complex 1 deficiency, nuclear type 12 | nuclear type mitochondrial complex I deficiency 12"
BMGC_DS17212,BMG_DS066294,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 | mitochondrial complex 1 deficiency, nuclear type 30 | nuclear type mitochondrial complex I deficiency 30"
BMGC_DS17213,BMG_DS066295,"ALPORT SYNDROME 1, X-LINKED | X-linked Alport syndrome"
BMGC_DS17214,BMG_DS066296,"MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 | mitochondrial complex 1 deficiency, mitochondrial type 1 | mitochondrial type mitochondrial complex I deficiency 1"
BMGC_DS17215,BMG_DS066297,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | capillary malformation-arteriovenous malformation 1
BMGC_DS17216,BMG_DS066298,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 | acyl-CoA dehydrogenase 9 deficiency"
BMGC_DS17217,BMG_DS066299,LYMPHATIC MALFORMATION 2 | hereditary lymphedema IB | lymphatic malformation 2
BMGC_DS17218,BMG_DS066301,LYMPHATIC MALFORMATION 3 | hereditary lymphedema IC | lymphatic malformation 3
BMGC_DS17219,BMG_DS066302,"short-rib thoracic dysplasia 7/20 with polydactyly, digenic"
BMGC_DS17220,BMG_DS066303,autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
BMGC_DS17221,BMG_DS066304,RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS | retinitis pigmentosa with or without situs inversus
BMGC_DS17222,BMG_DS066305,IMMUNODEFICIENCY 15B | immunodeficiency 15B | severe combined immunodeficiency due to IKK2 deficiency
BMGC_DS17223,BMG_DS066306,LYMPHATIC MALFORMATION 4 | hereditary lymphedema ID | lymphatic malformation 4
BMGC_DS17224,BMG_DS066308,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 | proteasome-associated autoinflammatory syndrome 3
BMGC_DS17225,BMG_DS066309,"HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES | hydrocephalus, congenital, 3, with brain anomalies"
BMGC_DS17226,BMG_DS066310,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | glycosylphosphatidylinositol biosynthesis defect 17
BMGC_DS17227,BMG_DS066311,Regressive spondylometaphyseal dysplasia | Regressive spondylometaphyseal dysplasia (disorder) | regressive spondylometaphyseal dysplasia
BMGC_DS17228,BMG_DS066312,TETRAAMELIA SYNDROME 2 | tetraamelia syndrome 2
BMGC_DS17229,BMG_DS066313,humerofemoral hypoplasia with radiotibial ray deficiency
BMGC_DS17230,BMG_DS066314,COFFIN-SIRIS SYNDROME 7 | Coffin-Siris syndrome 7
BMGC_DS17231,BMG_DS066315,"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 | corneal dystrophy, posterior polymorphous, 4 | posterior polymorphous corneal dystrophy 4"
BMGC_DS17232,BMG_DS066316,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD | Charcot-Marie-Tooth disease type 2DD | charcot-marie-tooth disease, axonal, type 2DD"
BMGC_DS17233,BMG_DS066317,IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA | pulmonary alveolar proteinosis with hypogammaglobulinemia
BMGC_DS17234,BMG_DS066318,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 | proteasome-associated autoinflammatory syndrome 2 | proteosome-associated autoinflammatory syndrome 2
BMGC_DS17235,BMG_DS066319,infantile parkinsonism-dystonia 2
BMGC_DS17236,BMG_DS066320,"intellectual disability, autosomal dominant 57"
BMGC_DS17237,BMG_DS066321,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27 | cardiomyopathy, familial hypertrophic 27"
BMGC_DS17238,BMG_DS066322,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with cerebellar atrophy and with or without seizures
BMGC_DS17239,BMG_DS066323,INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA | intellectual developmental disorder with or without epilepsy or cerebellar ataxia
BMGC_DS17240,BMG_DS066324,POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | polycystic kidney disease 6 | polycystic kidney disease 6 with or without polycystic liver disease
BMGC_DS17241,BMG_DS066325,"CILIARY DYSKINESIA, PRIMARY, 38 | ciliary dyskinesia, primary, 38 | primary ciliary dyskinesia 38"
BMGC_DS17242,BMG_DS066326,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1D | pontocerebellar hypoplasia type 1D | pontocerebellar hypoplasia, type 1D"
BMGC_DS17243,BMG_DS066327,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 | developmental and epileptic encephalopathy 66 | developmental and epileptic encephalopathy, 66"
BMGC_DS17244,BMG_DS066328,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 | epilepsy, familial adult myoclonic, 6 | familial adult myoclonic epilepsy 6"
BMGC_DS17245,BMG_DS066329,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 | epilepsy, familial adult myoclonic, 7 | familial adult myoclonic epilepsy 7"
BMGC_DS17246,BMG_DS066330,NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH | neurodevelopmental disorder with spasticity and poor growth
BMGC_DS17247,BMG_DS066331,INFLAMMATORY BOWEL DISEASE 29 | inflammatory bowel disease 29
BMGC_DS17248,BMG_DS066332,OVARIAN DYSGENESIS 6 | ovarian dysgenesis 6
BMGC_DS17249,BMG_DS066333,PEELING SKIN SYNDROME 6 | peeling skin syndrome 6
BMGC_DS17250,BMG_DS066334,SPERMATOGENIC FAILURE 28 | spermatogenic failure 28
BMGC_DS17251,BMG_DS066336,"SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits"
BMGC_DS17252,BMG_DS066337,"NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"
BMGC_DS17253,BMG_DS066338,INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES | intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
BMGC_DS17254,BMG_DS066339,NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
BMGC_DS17255,BMG_DS066340,SPERMATOGENIC FAILURE 29 | spermatogenic failure 29
BMGC_DS17256,BMG_DS066341,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"
BMGC_DS17257,BMG_DS066342,SPINOCEREBELLAR ATAXIA 48 | cerebellar ataxia type 48 | spinocerebellar ataxia 48
BMGC_DS17258,BMG_DS066343,"DEAFNESS, AUTOSOMAL RECESSIVE 110 | autosomal recessive nonsyndromic deafness 110 | hearing loss, autosomal recessive 110"
BMGC_DS17259,BMG_DS066344,"intellectual disability, autosomal recessive 63"
BMGC_DS17260,BMG_DS066345,PREMATURE OVARIAN FAILURE 15 | premature ovarian failure 15 | primary ovarian insufficiency 15
BMGC_DS17261,BMG_DS066346,"MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 | microcephaly, growth restriction, and increased sister chromatid exchange 2"
BMGC_DS17262,BMG_DS066347,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5"
BMGC_DS17263,BMG_DS066348,"intellectual disability, autosomal recessive 64"
BMGC_DS17264,BMG_DS066349,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58 | intellectual disability, autosomal dominant 58"
BMGC_DS17265,BMG_DS066350,"OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 | osteopetrosis, autosomal dominant 3"
BMGC_DS17266,BMG_DS066351,IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION | immunodeficiency 57
BMGC_DS17267,BMG_DS066352,"intellectual disability, autosomal recessive 65"
BMGC_DS17268,BMG_DS066353,SPERMATOGENIC FAILURE 30 | spermatogenic failure 30
BMGC_DS17269,BMG_DS066354,SPERMATOGENIC FAILURE 31 | spermatogenic failure 31
BMGC_DS17270,BMG_DS066355,LIDDLE SYNDROME 2 | Liddle syndrome 2
BMGC_DS17271,BMG_DS066356,SPERMATOGENIC FAILURE 32 | spermatogenic failure 32
BMGC_DS17272,BMG_DS066357,BONE MARROW FAILURE SYNDROME 4 | bone marrow failure syndrome 4
BMGC_DS17273,BMG_DS066359,OVARIAN DYSGENESIS 7 | ovarian dysgenesis 7
BMGC_DS17274,BMG_DS066360,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 | mitochondrial complex V (ATP synthase) deficiency nuclear type 5"
BMGC_DS17275,BMG_DS066361,"polydactyly, postaxial, type A8"
BMGC_DS17276,BMG_DS066362,"PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"
BMGC_DS17277,BMG_DS066363,LIDDLE SYNDROME 3 | Liddle syndrome 3
BMGC_DS17278,BMG_DS066364,"Calpain-3-related limb girdle muscular dystrophy D4 | Calpain-3-related limb girdle muscular dystrophy D4 (disorder) | Limb girdle muscular dystrophy type D4 | muscular dystrophy, limb-girdle, autosomal dominant 4"
BMGC_DS17279,BMG_DS066365,IMMUNODEFICIENCY 58 | immunodeficiency 58 | severe combined immunodeficiency due to CARMIL2 deficiency
BMGC_DS17280,BMG_DS066366,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 | muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | muscular dystrophy-dystroglycanopathy type C8"
BMGC_DS17281,BMG_DS066367,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 | muscular dystrophy, limb-girdle, autosomal recessive 23"
BMGC_DS17282,BMG_DS066368,"DEAFNESS, AUTOSOMAL DOMINANT 74 | autosomal dominant nonsyndromic deafness 74 | hearing loss, autosomal dominant 74"
BMGC_DS17283,BMG_DS066369,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 | developmental and epileptic encephalopathy 67 | developmental and epileptic encephalopathy, 67"
BMGC_DS17284,BMG_DS066370,"MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME | microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome"
BMGC_DS17285,BMG_DS066371,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95 | developmental and epileptic encephalopathy 95 | glycosylphosphatidylinositol biosynthesis defect 18
BMGC_DS17286,BMG_DS066372,"USHER SYNDROME, TYPE IV | Usher syndrome, type 4"
BMGC_DS17287,BMG_DS066373,"DEAFNESS, AUTOSOMAL RECESSIVE 111 | autosomal recessive nonsyndromic deafness 111 | hearing loss, autosomal recessive 111"
BMGC_DS17288,BMG_DS066374,INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES | intellectual developmental disorder with hypertelorism and distinctive facies
BMGC_DS17289,BMG_DS066375,Autosomal recessive extra-oral halitosis | Autosomal recessive extra-oral halitosis (disorder) | MTO (methanethiol oxidase) deficiency | Methanethiol oxidase deficiency | extraoral halitosis due to methanethiol oxidase deficiency
BMGC_DS17290,BMG_DS066376,SPERMATOGENIC FAILURE 33 | spermatogenic failure 33
BMGC_DS17291,BMG_DS066377,SPERMATOGENIC FAILURE 34 | spermatogenic failure 34
BMGC_DS17292,BMG_DS066378,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 | hennekam lymphangiectasia-lymphedema syndrome 3
BMGC_DS17293,BMG_DS066379,"OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES | ophthalmoplegia, external, with rib and vertebral anomalies"
BMGC_DS17294,BMG_DS066380,SQUALENE SYNTHASE DEFICIENCY | squalene synthase deficiency
BMGC_DS17295,BMG_DS066381,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY | intellectual developmental disorder with macrocephaly, seizures, and speech delay"
BMGC_DS17296,BMG_DS066382,"PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 | combined or isolated pituitary growth hormone deficiency 7 | isolated growth hormone deficiency, type 5"
BMGC_DS17297,BMG_DS066383,JOUBERT SYNDROME 35 | Joubert syndrome 35
BMGC_DS17298,BMG_DS066384,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE | spondyloepimetaphyseal dysplasia, Krakow type"
BMGC_DS17299,BMG_DS066385,"cardiac, facial, and digital anomalies with developmental delay"
BMGC_DS17300,BMG_DS066386,BONE MARROW FAILURE SYNDROME 5 | bone marrow failure syndrome 5
BMGC_DS17301,BMG_DS066387,"OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS | osteochondrodysplasia, brachydactyly, and overlapping malformed digits"
BMGC_DS17302,BMG_DS066388,DIARRHEA 9 | diarrhea 9
BMGC_DS17303,BMG_DS066389,"NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | stress-induced childhood-onset neurodegeneration with variable ataxia and seizures"
BMGC_DS17304,BMG_DS066390,RETINITIS PIGMENTOSA 83 | retinitis pigmentosa 83
BMGC_DS17305,BMG_DS066391,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | cortical dysplasia, complex, with other brain malformations 9"
BMGC_DS17306,BMG_DS066392,"NEPHROTIC SYNDROME, TYPE 17 | nephrotic syndrome type 17 | nephrotic syndrome, type 17"
BMGC_DS17307,BMG_DS066393,"NEPHROTIC SYNDROME, TYPE 18 | nephrotic syndrome type 18 | nephrotic syndrome, type 18"
BMGC_DS17308,BMG_DS066394,"NEPHROTIC SYNDROME, TYPE 19 | nephrotic syndrome type 19 | nephrotic syndrome, type 19"
BMGC_DS17309,BMG_DS066395,"MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 24, primary, autosomal recessive"
BMGC_DS17310,BMG_DS066396,"ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE, WITH OR WITHOUT HYPOHIDROSIS | ectodermal dysplasia 14 | ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"
BMGC_DS17311,BMG_DS066399,ORTHOSTATIC HYPOTENSION 2 | orthostatic hypotension 2
BMGC_DS17312,BMG_DS066400,"DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE | diarrhea 10, protein-losing enteropathy type"
BMGC_DS17313,BMG_DS066401,PERIVENTRICULAR NODULAR HETEROTOPIA 8 | periventricular nodular heterotopia 8
BMGC_DS17314,BMG_DS066402,"NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 | neuropathy, congenital hypomyelinating, 3"
BMGC_DS17315,BMG_DS066403,OVARIAN DYSGENESIS 8 | ovarian dysgenesis 8
BMGC_DS17316,BMG_DS066404,"CARDIOMYOPATHY, DILATED, 2C | cardiomyopathy, dilated, 2c | dilated cardiomyopathy 2C"
BMGC_DS17317,BMG_DS066405,POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 | polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
BMGC_DS17318,BMG_DS066406,INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA | intellectual developmental disorder and retinitis pigmentosa; IDDRP
BMGC_DS17319,BMG_DS066407,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 | capillary malformation-arteriovenous malformation 2
BMGC_DS17320,BMG_DS066408,"MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC | myasthenic syndrome, congenital, 23, presynaptic"
BMGC_DS17321,BMG_DS066409,"MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC | myasthenic syndrome, congenital, 24, presynaptic"
BMGC_DS17322,BMG_DS066410,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68 | developmental and epileptic encephalopathy 68 | developmental and epileptic encephalopathy, 68"
BMGC_DS17323,BMG_DS066411,IMMUNODEFICIENCY 15A | immunodeficiency 15A | immunodeficiency 15a
BMGC_DS17324,BMG_DS066412,"CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) | Snijders Blok-Campeau syndrome"
BMGC_DS17325,BMG_DS066413,"INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY | inflammatory bowel disease, immunodeficiency, and encephalopathy"
BMGC_DS17326,BMG_DS066414,"Baker Gordon syndrome | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | SYT1-related neurodevelopmental disorder | Synaptotagmin 1-related neurodevelopmental disorder | infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"
BMGC_DS17327,BMG_DS066415,"polydactyly, postaxial, type A9"
BMGC_DS17328,BMG_DS066416,RETINITIS PIGMENTOSA 84 | retinitis pigmentosa 84
BMGC_DS17329,BMG_DS066417,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 66 | autosomal recessive intellectual developmental disorder 66 | intellectual disability, autosomal recessive 66"
BMGC_DS17330,BMG_DS066418,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | mitochondrial complex 1 deficiency, nuclear type 2 | nuclear type mitochondrial complex I deficiency 2"
BMGC_DS17331,BMG_DS066419,VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | vertebral anomalies and variable endocrine and T-cell dysfunction
BMGC_DS17332,BMG_DS066420,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | mitochondrial complex 1 deficiency, nuclear type 3 | nuclear type mitochondrial complex I deficiency 3"
BMGC_DS17333,BMG_DS066421,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | mitochondrial complex 1 deficiency, nuclear type 4 | nuclear type mitochondrial complex I deficiency 4"
BMGC_DS17334,BMG_DS066422,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | mitochondrial complex 1 deficiency, nuclear type 5 | nuclear type mitochondrial complex I deficiency 5"
BMGC_DS17335,BMG_DS066423,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | mitochondrial complex 1 deficiency, nuclear type 6 | nuclear type mitochondrial complex I deficiency 6"
BMGC_DS17336,BMG_DS066424,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | mitochondrial complex 1 deficiency, nuclear type 7 | nuclear type mitochondrial complex I deficiency 7"
BMGC_DS17337,BMG_DS066425,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | mitochondrial complex 1 deficiency, nuclear type 8 | nuclear type mitochondrial complex I deficiency 8"
BMGC_DS17338,BMG_DS066426,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | mitochondrial complex 1 deficiency, nuclear type 9 | nuclear type mitochondrial complex I deficiency 9"
BMGC_DS17339,BMG_DS066427,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | mitochondrial complex 1 deficiency, nuclear type 10 | nuclear type mitochondrial complex I deficiency 10"
BMGC_DS17340,BMG_DS066428,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | mitochondrial complex 1 deficiency, nuclear type 11 | nuclear type mitochondrial complex I deficiency 11"
BMGC_DS17341,BMG_DS066429,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 | mitochondrial complex 1 deficiency, nuclear type 13 | nuclear type mitochondrial complex I deficiency 13"
BMGC_DS17342,BMG_DS066430,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | mitochondrial complex 1 deficiency, nuclear type 14 | nuclear type mitochondrial complex I deficiency 14"
BMGC_DS17343,BMG_DS066431,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | mitochondrial complex 1 deficiency, nuclear type 15 | nuclear type mitochondrial complex I deficiency 15"
BMGC_DS17344,BMG_DS066433,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | mitochondrial complex 1 deficiency, nuclear type 16 | nuclear type mitochondrial complex I deficiency 16"
BMGC_DS17345,BMG_DS066434,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | mitochondrial complex 1 deficiency, nuclear type 17 | nuclear type mitochondrial complex I deficiency 17"
BMGC_DS17346,BMG_DS066435,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | mitochondrial complex 1 deficiency, nuclear type 18 | nuclear type mitochondrial complex I deficiency 18"
BMGC_DS17347,BMG_DS066436,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | mitochondrial complex 1 deficiency, nuclear type 19 | nuclear type mitochondrial complex I deficiency 19"
BMGC_DS17348,BMG_DS066437,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | mitochondrial complex 1 deficiency, nuclear type 21 | nuclear type mitochondrial complex I deficiency 21"
BMGC_DS17349,BMG_DS066438,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 | mitochondrial complex 1 deficiency, nuclear type 22 | nuclear type mitochondrial complex I deficiency 22"
BMGC_DS17350,BMG_DS066439,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 | mitochondrial complex 1 deficiency, nuclear type 23 | nuclear type mitochondrial complex I deficiency 23"
BMGC_DS17351,BMG_DS066440,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 | mitochondrial complex 1 deficiency, nuclear type 24 | nuclear type mitochondrial complex I deficiency 24"
BMGC_DS17352,BMG_DS066441,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | mitochondrial complex 1 deficiency, nuclear type 25 | nuclear type mitochondrial complex I deficiency 25"
BMGC_DS17353,BMG_DS066442,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | mitochondrial complex 1 deficiency, nuclear type 26 | nuclear type mitochondrial complex I deficiency 26"
BMGC_DS17354,BMG_DS066443,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 | mitochondrial complex 1 deficiency, nuclear type 27 | nuclear type mitochondrial complex I deficiency 27"
BMGC_DS17355,BMG_DS066444,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | mitochondrial complex 1 deficiency, nuclear type 28 | nuclear type mitochondrial complex I deficiency 28"
BMGC_DS17356,BMG_DS066445,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 | mitochondrial complex 1 deficiency, nuclear type 29 | nuclear type mitochondrial complex I deficiency 29"
BMGC_DS17357,BMG_DS066446,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 | mitochondrial complex 1 deficiency, nuclear type 31 | nuclear type mitochondrial complex I deficiency 31"
BMGC_DS17358,BMG_DS066447,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 | mitochondrial complex 1 deficiency, nuclear type 32 | nuclear type mitochondrial complex I deficiency 32"
BMGC_DS17359,BMG_DS066448,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | mitochondrial complex 1 deficiency, nuclear type 33 | nuclear type mitochondrial complex I deficiency 33"
BMGC_DS17360,BMG_DS066449,"CILIARY DYSKINESIA, PRIMARY, 39 | ciliary dyskinesia, primary, 39 | primary ciliary dyskinesia 39"
BMGC_DS17361,BMG_DS066450,"DEAFNESS, AUTOSOMAL RECESSIVE 112 | autosomal recessive nonsyndromic deafness 112 | hearing loss, autosomal recessive 112"
BMGC_DS17362,BMG_DS066451,MIRROR MOVEMENTS 4 | mirror movements 4
BMGC_DS17363,BMG_DS066453,"ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"
BMGC_DS17364,BMG_DS066454,"PONTOCEREBELLAR HYPOPLASIA, TYPE 12 | pontocerebellar hypoplasia type 12 | pontocerebellar hypoplasia, type 12"
BMGC_DS17365,BMG_DS066455,"epidermodysplasia verruciformis, susceptibility to, 3"
BMGC_DS17366,BMG_DS066456,TRICHOHEPATONEURODEVELOPMENTAL SYNDROME | trichohepatoneurodevelopmental syndrome
BMGC_DS17367,BMG_DS066457,congenital anomalies of kidney and urinary tract 3
BMGC_DS17368,BMG_DS066458,"GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome | GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumour) syndrome | GLOW syndrome | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome | global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome"
BMGC_DS17369,BMG_DS066459,MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS | mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
BMGC_DS17370,BMG_DS066460,HYPOTRICHOSIS 14 | hypotrichosis 14
BMGC_DS17371,BMG_DS066461,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY | neurodegeneration, childhood-onset, with cerebellar atrophy"
BMGC_DS17372,BMG_DS066462,"FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS | fibrosis, neurodegeneration, and cerebral angiomatosis"
BMGC_DS17373,BMG_DS066463,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G | Charcot-Marie-Tooth disease type 1G | Charcot-Marie-Tooth disease, demyelinating, type 1G"
BMGC_DS17374,BMG_DS066464,Cardiac urogenital syndrome | Cardiac urogenital syndrome (disorder) | MYRF-related cardiac urogenital syndrome | Myelin regulatory factor-related cardiac urogenital syndrome | cardiac-urogenital syndrome
BMGC_DS17375,BMG_DS066465,"HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE | hyper IgE recurrent infection syndrome 3 | hyper-IgE recurrent infection syndrome 3, autosomal recessive"
BMGC_DS17376,BMG_DS066466,VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI | visual impairment and progressive phthisis bulbi
BMGC_DS17377,BMG_DS066467,"MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM | microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum"
BMGC_DS17378,BMG_DS066468,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69 | developmental and epileptic encephalopathy 69 | developmental and epileptic encephalopathy, 69"
BMGC_DS17379,BMG_DS066469,"MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | macrocephaly, acquired, with impaired intellectual development"
BMGC_DS17380,BMG_DS066470,"AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3 | mucocutaneous ulceration, chronic"
BMGC_DS17381,BMG_DS066471,"SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT | spinal muscular atrophy with lower extremity predominant 2B | spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant"
BMGC_DS17382,BMG_DS066472,"NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA | neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia"
BMGC_DS17383,BMG_DS066473,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 | autosomal recessive intellectual developmental disorder 67 | intellectual developmental disorder, autosomal recessive 67"
BMGC_DS17384,BMG_DS066474,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70 | developmental and epileptic encephalopathy 70 | developmental and epileptic encephalopathy, 70"
BMGC_DS17385,BMG_DS066475,"CILIARY DYSKINESIA, PRIMARY, 40 | ciliary dyskinesia, primary, 40 | primary ciliary dyskinesia 40"
BMGC_DS17386,BMG_DS066476,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 | autosomal recessive intellectual developmental disorder 68 | intellectual developmental disorder, autosomal recessive 68"
BMGC_DS17387,BMG_DS066477,"epidermodysplasia verruciformis, susceptibility to, 4"
BMGC_DS17388,BMG_DS066478,"epidermodysplasia verruciformis, susceptibility to, 5"
BMGC_DS17389,BMG_DS066483,"PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC | proteasome-associated autoinflammatory syndrome 1"
BMGC_DS17390,BMG_DS066508,"MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC"
BMGC_DS17391,BMG_DS066510,"MASTOCYTOSIS, INDOLENT"
BMGC_DS17392,BMG_DS066511,MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER
BMGC_DS17393,BMG_DS066512,"NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT"
BMGC_DS17394,BMG_DS066513,CHROMOSOME 1p36.11 DUPLICATION SYNDROME | Coffin-Siris syndrome 2
BMGC_DS17395,BMG_DS066514,"PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC | proteasome-associated autoinflammatory syndrome 3"
BMGC_DS17396,BMG_DS066515,CARBOXYLESTERASE 1 DEFICIENCY
BMGC_DS17397,BMG_DS066516,CHROMOSOME 14q32 DELETION SYNDROME
BMGC_DS17398,BMG_DS066540,"Autosomal recessive chorioretinopathy and microcephaly syndrome | Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome"
BMGC_DS17399,BMG_DS066541,Benign familial mesial temporal lobe epilepsy | FMTLE - familial mesial temporal lobe epilepsy | Familial mesial temporal lobe epilepsy | Familial mesial temporal lobe epilepsy (disorder)
BMGC_DS17400,BMG_DS066542,Chuvash erythrocytosis | Chuvash erythrocytosis (disorder) | Chuvash polycythaemia | Chuvash polycythemia | Von Hippel Lindau dependent polycythaemia | Von Hippel Lindau dependent polycythemia
BMGC_DS17401,BMG_DS066546,"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) | early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"
BMGC_DS17402,BMG_DS066549,familial bicuspid aortic valve
BMGC_DS17403,BMG_DS066556,lissencephaly due to LIS1 mutation
BMGC_DS17404,BMG_DS066558,Microcephalic primordial dwarfism Dauber type | Microcephalic primordial dwarfism Dauber type (disorder)
BMGC_DS17405,BMG_DS066559,Deletion 13q14 | Monosomy 13q14 | Monosomy 13q14 syndrome | Monosomy 13q14 syndrome (disorder)
BMGC_DS17406,BMG_DS066568,"Macular Dystrophy, Retinal, 2 | retinal macular dystrophy 2 | retinal macular dystrophy type 2"
BMGC_DS17407,BMG_DS066576,Genetic transient congenital hypothyroidism | Genetic transient congenital hypothyroidism (disorder)
BMGC_DS17408,BMG_DS066603,Vasculitis due to ADA2 (adenosine deaminase 2) deficiency | Vasculitis due to ADA2 deficiency | Vasculitis due to adenosine deaminase 2 deficiency | Vasculitis due to adenosine deaminase 2 deficiency (disorder)
BMGC_DS17409,BMG_DS066610,"Microcephaly, thin corpus callosum, intellectual disability syndrome | Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)"
BMGC_DS17410,BMG_DS066611,Proximal myopathy with extrapyramidal signs | Proximal myopathy with extrapyramidal signs (disorder)
BMGC_DS17411,BMG_DS066612,Autosomal recessive spastic paraplegia type 70 | Autosomal recessive spastic paraplegia type 70 (disorder) | autosomal recessive spastic paraplegia type 70
BMGC_DS17412,BMG_DS066613,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder)
BMGC_DS17413,BMG_DS066614,Female infertility due to zona pellucida defect | Female infertility due to zona pellucida defect (disorder)
BMGC_DS17414,BMG_DS066615,Diaphragmatic spinal muscular atrophy type 2 | SMARD2 - spinal muscular atrophy with respiratory distress type 2 | Severe infantile axonal neuropathy with respiratory failure type 2 | Spinal muscular atrophy with respiratory distress type 2 | Spinal muscular atrophy with respiratory distress type 2 (disorder) | X-linked spinal muscular atrophy with respiratory distress | spinal muscular atrophy with respiratory distress type 2
BMGC_DS17415,BMG_DS066618,"Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome | Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)"
BMGC_DS17416,BMG_DS066619,2p21 microdeletion syndrome without cystinuria | 2p21 microdeletion syndrome without cystinuria (disorder)
BMGC_DS17417,BMG_DS066620,"Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency | Congenital disorder of glycosylation due to PIGT deficiency | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) | MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3"
BMGC_DS17418,BMG_DS066623,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder) | Charcot-Marie-Tooth disease dominant intermediate F
BMGC_DS17419,BMG_DS066641,T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency | T-cell immunodeficiency due to RHOH deficiency | T-cell immunodeficiency due to ras homolog family member H deficiency | T-cell immunodeficiency due to ras homolog family member H deficiency (disorder) | T-cell immunodeficiency with epidermodysplasia verruciformis
BMGC_DS17420,BMG_DS066643,Benign Samaritan congenital myopathy | Benign Samaritan congenital myopathy (disorder) | benign Samaritan congenital myopathy
BMGC_DS17421,BMG_DS066644,"Tall stature, scoliosis, macrodactyly of great toe syndrome | Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) | Tall stature, scoliosis, macrodactyly of hallux syndrome"
BMGC_DS17422,BMG_DS066645,Developmental delay with autism spectrum disorder and gait instability | Developmental delay with autism spectrum disorder and gait instability (disorder)
BMGC_DS17423,BMG_DS066646,Adult-onset distal myopathy due to VCP (valosin containing protein) mutation | Adult-onset distal myopathy due to VCP mutation | Adult-onset distal myopathy due to valosin containing protein mutation | Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | adult-onset distal myopathy due to VCP mutation
BMGC_DS17424,BMG_DS066647,5p13 microduplication syndrome | 5p13 microduplication syndrome (disorder) | Trisomy 5p13
BMGC_DS17425,BMG_DS066658,MITF (melanogenesis associated transcription factor) related melanoma and renal cell carcinoma predisposition syndrome | MITF-related melanoma and renal cell carcinoma predisposition syndrome | Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome | Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder)
BMGC_DS17426,BMG_DS066660,"Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome | recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"
BMGC_DS17427,BMG_DS066661,12p13.33 microdeletion syndrome | Distal deletion 12p | Distal monosomy 12p | Distal monosomy 12p (disorder) | distal monosomy 12p
BMGC_DS17428,BMG_DS066675,Autosomal dominant severe congenital neutropaenia | Autosomal dominant severe congenital neutropenia | Autosomal dominant severe congenital neutropenia (disorder) | autosomal dominant severe congenital neutropenia
BMGC_DS17429,BMG_DS066677,"Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"
BMGC_DS17430,BMG_DS066681,Immunodeficiency due to MASP-2 (mannan binding lectin serine peptidase 2) deficiency | Immunodeficiency due to MASP-2 deficiency | Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency | Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency (disorder)
BMGC_DS17431,BMG_DS066682,hereditary site-specific ovarian cancer syndrome
BMGC_DS17432,BMG_DS066683,Distal hereditary motor neuropathy type 7 | Distal hereditary motor neuropathy type 7 (disorder) | Distal spinal muscular atrophy with vocal cord paralysis | distal hereditary motor neuropathy type 7
BMGC_DS17433,BMG_DS066706,"Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome | Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome | POIKTMP syndrome"
BMGC_DS17434,BMG_DS066707,Autosomal recessive Charcot-Marie-Tooth disease type 2B5 | Charcot-Marie-Tooth disease type 2B5 | Charcot-Marie-Tooth disease type 2B5 (disorder) | Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency | Severe early-onset axonal neuropathy due to NEFL deficiency | Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
BMGC_DS17435,BMG_DS066708,"Non-acquired combined pituitary hormone deficiency, deafness, rigid cervical spine syndrome | Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome | Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder)"
BMGC_DS17436,BMG_DS066710,"IL10 (interleukin 10) related early-onset inflammatory bowel disease | IL10-related early-onset inflammatory bowel disease | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome (disorder) | Interleukin 10 related early-onset inflammatory bowel disease | immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"
BMGC_DS17437,BMG_DS066711,Ectodermal dysplasia syndactyly syndrome | Ectodermal dysplasia syndactyly syndrome (disorder) | ectodermal dysplasia-syndactyly syndrome
BMGC_DS17438,BMG_DS066713,15q11.2 microdeletion syndrome | 15q11.2 microdeletion syndrome (disorder) | Monosomy 15q11.2
BMGC_DS17439,BMG_DS066714,14q11.2 microduplication syndrome | 14q11.2 microduplication syndrome (disorder) | Trisomy 14q11.2
BMGC_DS17440,BMG_DS066715,"MRCS (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome | MRCS syndrome | Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome | Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)"
BMGC_DS17441,BMG_DS066717,Methylmalonic acidaemia TCb1R type | Methylmalonic acidemia TCb1R type | Methylmalonic aciduria due to transcobalamin receptor defect | Methylmalonic aciduria due to transcobalamin receptor defect (disorder) | methylmalonic acidemia due to transcobalamin receptor defect
BMGC_DS17442,BMG_DS066720,Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)
BMGC_DS17443,BMG_DS066721,"Optic nerve edema, splenomegaly syndrome | Optic nerve edema, splenomegaly syndrome (disorder) | Optic nerve oedema, splenomegaly syndrome | retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome"
BMGC_DS17444,BMG_DS066722,Developmental and speech delay due to SOX5 (SRY-box 5) deficiency | Developmental and speech delay due to SOX5 deficiency | Developmental and speech delay due to SRY-box 5 deficiency | Developmental and speech delay due to SRY-box 5 deficiency (disorder) | developmental and speech delay due to SOX5 deficiency
BMGC_DS17445,BMG_DS066724,gastric adenocarcinoma and proximal polyposis of the stomach
BMGC_DS17446,BMG_DS066725,"Autosomal recessive distal spinal muscular atrophy type 5 | Young adult-onset distal hereditary motor neuropathy | Young adult-onset distal hereditary motor neuropathy (disorder) | neuronopathy, distal hereditary motor, autosomal recessive 5"
BMGC_DS17447,BMG_DS066728,COXPD10 - combined oxidative phosphorylation defect type 10 | Combined oxidative phosphorylation defect type 10 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimisation 1 deficiency | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder) | mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
BMGC_DS17448,BMG_DS066729,Combined immunodeficiency due to STK4 (serine/threonine kinase 4) deficiency | Combined immunodeficiency due to STK4 deficiency | Combined immunodeficiency due to serine/threonine kinase 4 deficiency | Combined immunodeficiency due to serine/threonine kinase 4 deficiency (disorder)
BMGC_DS17449,BMG_DS066732,IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome | X-linked central congenital hypothyroidism with late-onset macroorchidism | X-linked central congenital hypothyroidism with late-onset testicular enlargement | X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)
BMGC_DS17450,BMG_DS066733,Familial thrombocytosis with transverse limb defect | Hereditary thrombocytosis with transverse limb defect | Thrombocythaemia with distal limb defect | Thrombocythemia with distal limb defect | Thrombocythemia with distal limb defect (disorder) | hereditary thrombocytosis with transverse limb defect
BMGC_DS17451,BMG_DS066734,AUTS2 syndrome | Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency | Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency (disorder) | Autism spectrum disorder due to AUTS2 deficiency
BMGC_DS17452,BMG_DS066735,Combined oxidative phosphorylation defect type 16 | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency | Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder)
BMGC_DS17453,BMG_DS066736,"Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome | Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)"
BMGC_DS17454,BMG_DS066737,"FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome | FILS syndrome | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)"
BMGC_DS17455,BMG_DS066738,Severe combined immunodeficiency due to CARD11 (caspase recruitment domain family member 11) deficiency | Severe combined immunodeficiency due to CARD11 deficiency | Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency | Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency (disorder)
BMGC_DS17456,BMG_DS066874,"CDKL5 (cyclin-dependent kinase-like 5) deficiency | CDKL5 deficiency disorder | CDKL5-related epileptic encephalopathy | Cyclin-dependent kinase-like 5 deficiency | Cyclin-dependent kinase-like 5 deficiency (disorder) | developmental and epileptic encephalopathy, 2"
BMGC_DS17457,BMG_DS066904,"Microcephaly, polymicrogyria, corpus callosum agenesis syndrome | Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | microcephaly-polymicrogyria-corpus callosum agenesis syndrome"
BMGC_DS17458,BMG_DS066905,Congenital lethal myopathy Compton North type | Congenital lethal myopathy Compton North type (disorder)
BMGC_DS17459,BMG_DS066906,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (disorder) | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type A
BMGC_DS17460,BMG_DS066909,7q31 microdeletion syndrome | 7q31 microdeletion syndrome (disorder) | Monosomy 7q31
BMGC_DS17461,BMG_DS066911,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type B
BMGC_DS17462,BMG_DS066912,Autosomal SLE (systemic lupus erythematosus) | Autosomal systemic lupus erythematosus | Autosomal systemic lupus erythematosus (disorder) | Familial systemic lupus erythematosus
BMGC_DS17463,BMG_DS066913,Oligodontia and cancer predisposition syndrome | Oligodontia and cancer predisposition syndrome (disorder)
BMGC_DS17464,BMG_DS066917,"Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)"
BMGC_DS17465,BMG_DS066919,Bainbridge-Ropers syndrome | severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
BMGC_DS17466,BMG_DS066920,Intellectual disability with strabismus syndrome | Intellectual disability with strabismus syndrome (disorder) | intellectual disability-strabismus syndrome
BMGC_DS17467,BMG_DS066922,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type C
BMGC_DS17468,BMG_DS066924,XYLT1-CDG | XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation | XYLT1-congenital disorder of glycosylation | Xylosyltransferase 1 congenital disorder of glycosylation | Xylosyltransferase 1 congenital disorder of glycosylation (disorder)
BMGC_DS17469,BMG_DS066926,"Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) | Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome"
BMGC_DS17470,BMG_DS066928,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) | infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
BMGC_DS17471,BMG_DS066929,East Texas bleeding disorder | East Texas bleeding disorder (disorder)
BMGC_DS17472,BMG_DS066930,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
BMGC_DS17473,BMG_DS066932,Autosomal recessive spastic paraplegia type 59 | Autosomal recessive spastic paraplegia type 59 (disorder) | autosomal recessive spastic paraplegia type 59
BMGC_DS17474,BMG_DS066933,LMNA-related cardiocutaneous progeria syndrome | Lamin A/C related cardiocutaneous progeria syndrome | Lamin A/C related cardiocutaneous progeria syndrome (disorder)
BMGC_DS17475,BMG_DS066943,Combined immunodeficiency due to MALT1 deficiency | Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency | Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder)
BMGC_DS17476,BMG_DS066944,Hereditary cryohydrocytosis with normal stomatin | Hereditary cryohydrocytosis with normal stomatin (disorder)
BMGC_DS17477,BMG_DS066950,"Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome (disorder) | partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"
BMGC_DS17478,BMG_DS066951,"Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) | SCAR23 - spinocerebellar ataxia autosomal recessive type 23 | Spinocerebellar ataxia autosomal recessive type 23 | spinocerebellar ataxia, autosomal recessive 23"
BMGC_DS17479,BMG_DS066954,DST (dystonin) related epidermolysis bullosa simplex | Epidermolysis bullosa simplex due to BP230 deficiency | Epidermolysis bullosa simplex due to BP230 deficiency (disorder)
BMGC_DS17480,BMG_DS066955,Epidermolysis bullosa simplex due to exophilin 5 deficiency | Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder)
BMGC_DS17481,BMG_DS066965,"Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) | Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome"
BMGC_DS17482,BMG_DS066966,Maternal riboflavin deficiency | Maternal riboflavin deficiency (disorder) | maternal riboflavin deficiency
BMGC_DS17483,BMG_DS066967,"Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome | Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)"
BMGC_DS17484,BMG_DS066968,"Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder)"
BMGC_DS17485,BMG_DS066969,"Severe neurodegenerative syndrome due to BSCL2 deficiency | Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency | Severe neurodegenerative syndrome with lipodystrophy | Severe neurodegenerative syndrome with lipodystrophy (disorder)"
BMGC_DS17486,BMG_DS066974,"Progressive retinal dystrophy due to retinol transport defect | Progressive retinal dystrophy due to retinol transport defect (disorder) | Retinol dystrophy, iris coloboma, comedogenic acne syndrome"
BMGC_DS17487,BMG_DS066975,"Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome | Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome (disorder)"
BMGC_DS17488,BMG_DS066977,Congenital chronic diarrhea with exudative enteropathy | Congenital chronic diarrhea with protein-losing enteropathy | Congenital chronic diarrhea with protein-losing enteropathy (disorder) | Congenital chronic diarrhoea with exudative enteropathy | Congenital chronic diarrhoea with protein-losing enteropathy
BMGC_DS17489,BMG_DS066980,"X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder)"
BMGC_DS17490,BMG_DS067000,"Porencephaly, microcephaly, bilateral congenital cataract syndrome | Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)"
BMGC_DS17491,BMG_DS067001,"ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia | ALX1-related frontonasal dysplasia | Frontonasal dysplasia type 3 | Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome | Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)"
BMGC_DS17492,BMG_DS067013,"MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 2 | Multiple congenital anomalies, hypotonia, seizures syndrome type 2 | Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder)"
BMGC_DS17493,BMG_DS067014,"Progeroid and marfanoid aspect, lipodystrophy syndrome | Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)"
BMGC_DS17494,BMG_DS067016,"Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder) | Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome"
BMGC_DS17495,BMG_DS067017,"Congenital cataract, deafness, severe developmental delay syndrome | Congenital cataract, hearing loss, severe developmental delay syndrome | Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) | Huppke-Brendel syndrome | Lethal neurodegenerative disorder due to copper transport defect"
BMGC_DS17496,BMG_DS067018,Transient infantile hypertriglyceridaemia and fatty liver | Transient infantile hypertriglyceridaemia and hepatosteatosis | Transient infantile hypertriglyceridemia and fatty liver | Transient infantile hypertriglyceridemia and hepatosteatosis | Transient infantile hypertriglyceridemia and hepatosteatosis (disorder)
BMGC_DS17497,BMG_DS067019,Neonatal inflammatory skin and bowel disease | Neonatal inflammatory skin and bowel disease (disorder) | neonatal inflammatory skin and bowel disease
BMGC_DS17498,BMG_DS067021,"DAVID (deficiency in anterior pituitary function, variable immunodeficiency) syndrome | Deficiency in anterior pituitary function, variable immunodeficiency syndrome | Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) | deficiency in anterior pituitary function - variable immunodeficiency syndrome"
BMGC_DS17499,BMG_DS067023,Hypoinsulinemic hypoglycaemia and body hemihypertrophy | Hypoinsulinemic hypoglycemia and body hemihypertrophy | Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder)
BMGC_DS17500,BMG_DS067024,"HPPD (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome | Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | Hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome | hypertelorism-preauricular sinus-punctual pits-deafness syndrome"
BMGC_DS17501,BMG_DS067026,"Lethal occipital encephalocele, skeletal dysplasia syndrome | Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)"
BMGC_DS17502,BMG_DS067027,"Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome | Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Hypoplastic pancreas, intestinal atresia, hypoplastic gallbladder syndrome"
BMGC_DS17503,BMG_DS067028,Childhood encephalopathy due to thiamin pyrophosphokinase deficiency | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
BMGC_DS17504,BMG_DS067052,Pitt-Hopkins-like syndrome
BMGC_DS17505,BMG_DS067060,Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder) | hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
BMGC_DS17506,BMG_DS067061,Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia | Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | Autosomal recessive osteopetrosis type 7 | Osteopetrosis hypogammaglobulinaemia syndrome | Osteopetrosis hypogammaglobulinemia syndrome | Osteopetrosis hypogammaglobulinemia syndrome (disorder)
BMGC_DS17507,BMG_DS067072,Rare isolated myopia | Rare isolated myopia (disorder)
BMGC_DS17508,BMG_DS067104,isolated asymptomatic elevation of creatine phosphokinase
BMGC_DS17509,BMG_DS067111,PRKAR1B-related neurodegenerative dementia with intermediate filaments | Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments | Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments (disorder)
BMGC_DS17510,BMG_DS067112,"FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)"
BMGC_DS17511,BMG_DS067113,Pancytopenia with developmental delay syndrome | Pancytopenia with developmental delay syndrome (disorder) | Trilineage bone marrow failure with developmental delay syndrome
BMGC_DS17512,BMG_DS067127,"Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder)"
BMGC_DS17513,BMG_DS067128,Cerebro-cutaneous syndrome with iron overload | Ferro-cerebro-cutaneous syndrome | Ferro-cerebro-cutaneous syndrome (disorder) | ferro-cerebro-cutaneous syndrome
BMGC_DS17514,BMG_DS067129,Retinal dystrophy with inner nuclear layer and ganglion cell anomalies | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder)
BMGC_DS17515,BMG_DS067130,Periodic paralysis with transient compartment-like syndrome | Periodic paralysis with transient compartment-like syndrome (disorder)
BMGC_DS17516,BMG_DS067131,Periodic paralysis with later-onset distal motor neuropathy | Periodic paralysis with later-onset distal motor neuropathy (disorder) | periodic paralysis with later-onset distal motor neuropathy
BMGC_DS17517,BMG_DS067132,"SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome | SAMS syndrome | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder)"
BMGC_DS17518,BMG_DS067133,"Intellectual disability, severe speech delay, mild dysmorphism syndrome | Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder)"
BMGC_DS17519,BMG_DS067134,"Growth retardation, mild developmental delay, chronic hepatitis syndrome | Growth retardation, mild developmental delay, chronic hepatitis syndrome (disorder) | growth retardation-mild developmental delay-chronic hepatitis syndrome"
BMGC_DS17520,BMG_DS067135,"Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome | Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder)"
BMGC_DS17521,BMG_DS067136,Fatal post-viral neurodegenerative disorder | Fatal post-viral neurodegenerative disorder (disorder) | fatal post-viral neurodegenerative disorder
BMGC_DS17522,BMG_DS067137,Acute infantile liver failure with multisystemic involvement syndrome | Acute infantile liver failure with multisystemic involvement syndrome (disorder)
BMGC_DS17523,BMG_DS067141,"MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome | MMCAT syndrome | Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)"
BMGC_DS17524,BMG_DS067143,"Congenital neutropenia, bone marrow fibrosis, nephromegaly syndrome | Congenital neutropenia, myelofibrosis, nephromegaly syndrome | Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | VPS45 deficiency"
BMGC_DS17525,BMG_DS067144,Autosomal recessive cerebral atrophy | Autosomal recessive cerebral atrophy (disorder) | autosomal recessive cerebral atrophy
BMGC_DS17526,BMG_DS067146,"HBSL - hypomyelination, brain stem, spinal cord, leg spasticity | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | hypomyelination with brain stem and spinal cord involvement and leg spasticity"
BMGC_DS17527,BMG_DS067148,KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy | KCNQ2-related epileptic encephalopathy | KCNQ2-related neonatal epileptic encephalopathy | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder)
BMGC_DS17528,BMG_DS067149,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (disorder) | autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
BMGC_DS17529,BMG_DS067151,Autosomal dominant aplasia and myelodysplasia | Autosomal dominant aplasia and myelodysplasia (disorder) | Autosomal dominant aplastic anaemia and myelodysplasia | Autosomal dominant aplastic anemia and myelodysplasia
BMGC_DS17530,BMG_DS067152,12p12.1 microdeletion syndrome | 12p12.1 microdeletion syndrome (disorder) | Monosomy 12p12.1
BMGC_DS17531,BMG_DS067153,FGFR2-related bent bone dysplasia | Fibroblast growth factor receptor 2-related bent bone dysplasia | Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Perinatal lethal bent bone dysplasia
BMGC_DS17532,BMG_DS067155,"Skin fragility, wooly hair, palmoplantar keratoderma syndrome | Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | skin fragility-woolly hair-palmoplantar keratoderma syndrome"
BMGC_DS17533,BMG_DS067156,AP4 deficiency syndrome | Severe intellectual disability and progressive spastic paraplegia | Severe intellectual disability and progressive spastic paraplegia (disorder)
BMGC_DS17534,BMG_DS067160,"Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome | Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder) | Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome"
BMGC_DS17535,BMG_DS067161,Syndromic multisystem autoimmune disease due to ITCH deficiency | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
BMGC_DS17536,BMG_DS067162,Atypical hypotonia cystinuria syndrome | Atypical hypotonia cystinuria syndrome (disorder) | atypical hypotonia-cystinuria syndrome
BMGC_DS17537,BMG_DS067163,Lethal polymalformative syndrome Boissel type | Lethal polymalformative syndrome Boissel type (disorder)
BMGC_DS17538,BMG_DS067164,Primary CD59 deficiency | Primary CD59 deficiency (disorder)
BMGC_DS17539,BMG_DS067165,Immunodeficiency due to CD25 deficiency | Immunodeficiency due to CD25 deficiency (disorder) | Interleukin-2 receptor alpha chain deficiency
BMGC_DS17540,BMG_DS067166,FAST kinase domains 2-related infantile mitochondrial encephalomyopathy | FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | FASTKD2-related infantile mitochondrial encephalomyopathy
BMGC_DS17541,BMG_DS067174,STAT1 deficiency | Signal transducer and activator of transcription 1 deficiency | Susceptibility to viral and mycobacterial infection | Susceptibility to viral and mycobacterial infection (disorder)
BMGC_DS17542,BMG_DS067177,MT-ATP6-related mitochondrial spastic paraplegia | Maternally-inherited spastic paraplegia | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) | maternally-inherited spastic paraplegia
BMGC_DS17543,BMG_DS067180,Focal palmoplantar keratoderma with joint keratoses | Focal palmoplantar keratoderma with joint keratoses (disorder) | focal palmoplantar keratoderma with joint keratoses
BMGC_DS17544,BMG_DS067181,"COL4A1-related brain small vessel disease with haemorrhage | COL4A1-related brain small vessel disease with hemorrhage | COL4A1-related familial vascular leucoencephalopathy | COL4A1-related familial vascular leukoencephalopathy | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leucoencephalopathy syndrome | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leukoencephalopathy syndrome | Collagen type IV alpha 1 chain related familial vascular leucoencephalopathy | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder)"
BMGC_DS17545,BMG_DS067183,Diffuse palmoplantar keratoderma with painful fissures | Diffuse palmoplantar keratoderma with painful fissures (disorder) | diffuse palmoplantar keratoderma with painful fissures
BMGC_DS17546,BMG_DS067186,COXPD14 - combined oxidative phosphorylation defect type 14 | Combined oxidative phosphorylation defect type 14 | Combined oxidative phosphorylation defect type 14 (disorder) | combined oxidative phosphorylation defect type 14
BMGC_DS17547,BMG_DS067189,CMPD-U - chronic myeloproliferative disease unclassifiable | Undifferentiated myeloproliferative disease | Undifferentiated myeloproliferative disease (disorder)
BMGC_DS17548,BMG_DS067190,Isolated ATP synthase deficiency | Isolated adenosine triphosphate synthase deficiency | Isolated adenosine triphosphate synthase deficiency (disorder) | Isolated mitochondrial respiratory chain complex V deficiency | mitochondrial complex V (ATP synthase) deficiency | mitochondrial proton-transporting ATP synthase complex deficiency
BMGC_DS17549,BMG_DS067364,Iodine deficiency | Iodine deficiency (disorder)
BMGC_DS17550,BMG_DS067365,DITRA - deficiency of interleukin 36 receptor antagonist | Deficiency of IL-36R antagonist | Deficiency of IL-36Ra (interleukin 36 receptor antagonist) | Deficiency of interleukin 36 receptor antagonist | Deficiency of interleukin 36 receptor antagonist (disorder)
BMGC_DS17551,BMG_DS067368,Diabetic Glomerulosclerosis | Diabetic Nephropathies
BMGC_DS17552,BMG_DS067373,osteoarthritis susceptibility 5
BMGC_DS17553,BMG_DS067374,Kozlowski spondylometaphyseal dysplasia | Kozlowski spondylometaphyseal dysplasia (disorder) | Spondylometaphyseal dysplasia | Spondylometaphyseal dysplasia (disorder) | Spondylometaphyseal dysplasia Kozlowski type | spondylometaphyseal dysplasia
BMGC_DS17554,BMG_DS067375,"Muscular Dystrophy, Emery-Dreifuss | Scapuloperoneal Myopathy, MYH7-Related"
BMGC_DS17555,BMG_DS067376,"INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 | intellectual disability-hypotonic facies syndrome, X-linked, 1"
BMGC_DS17556,BMG_DS067380,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 | familial temporal lobe epilepsy 2"
BMGC_DS17557,BMG_DS067381,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 | spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"
BMGC_DS17558,BMG_DS067382,"DEAFNESS, AUTOSOMAL DOMINANT 37 | autosomal dominant nonsyndromic deafness 37 | hearing loss, autosomal dominant 37"
BMGC_DS17559,BMG_DS067384,Arthrosis | Osteoarthritis
BMGC_DS17560,BMG_DS067385,FETAL AKINESIA DEFORMATION SEQUENCE 2 | fetal akinesia deformation sequence 2 | fetal akinesia deformation sequence syndrome 2
BMGC_DS17561,BMG_DS067386,FETAL AKINESIA DEFORMATION SEQUENCE 4 | fetal akinesia deformation sequence 4 | fetal akinesia deformation sequence syndrome 4
BMGC_DS17562,BMG_DS067387,"DEAFNESS, AUTOSOMAL RECESSIVE 99 | autosomal recessive nonsyndromic deafness 99 | hearing loss, autosomal recessive 99"
BMGC_DS17563,BMG_DS067388,COFFIN-SIRIS SYNDROME 10 | Coffin-Siris syndrome 10
BMGC_DS17564,BMG_DS067389,FETAL AKINESIA DEFORMATION SEQUENCE 3 | fetal akinesia deformation sequence 3 | fetal akinesia deformation sequence syndrome 3
BMGC_DS17565,BMG_DS067390,uridine-cytidineuria
BMGC_DS17566,BMG_DS067391,Aneurysm osteoarthritis syndrome | Aneurysm osteoarthritis syndrome (disorder)
BMGC_DS17567,BMG_DS067392,MIRAS - mitochondrial recessive ataxia syndrome | Recessive mitochondrial ataxia syndrome | Recessive mitochondrial ataxia syndrome (disorder) | recessive mitochondrial ataxia syndrome
BMGC_DS17568,BMG_DS067393,Familial Horizontal Gaze Palsy with Progressive Scoliosis | horizontal gaze palsy with progressive scoliosis
BMGC_DS17569,BMG_DS067394,Autosomal recessive brachyolmia | Autosomal recessive brachyolmia (disorder) | Brachyolmia Hobaek/Toledo type | autosomal recessive brachyolmia
BMGC_DS17570,BMG_DS067395,recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
BMGC_DS17571,BMG_DS067398,Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis | Myasthenia Gravis
BMGC_DS17572,BMG_DS067406,GCGR-related hyperglucagonaemia | GCGR-related hyperglucagonemia | Glucagon receptor-related hyperglucagonaemia | Glucagon receptor-related hyperglucagonemia | Glucagon receptor-related hyperglucagonemia (disorder) | Mahvash disease
BMGC_DS17573,BMG_DS067410,bilateral generalized polymicrogyria
BMGC_DS17574,BMG_DS067494,Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency | Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder) | Autosomal recessive cerebellar ataxia due to STUB1 (STIP1 homology and U-box containing protein 1) deficiency | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | SCAR16 - spinocerebellar ataxia autosomal recessive type 16 | Spinocerebellar ataxia autosomal recessive type 16 | autosomal recessive spinocerebellar ataxia 16
BMGC_DS17575,BMG_DS067495,CLP1 (cleavage and polyadenylation factor I subunit 1) related pontocerebellar hypoplasia | CLP1-related pontocerebellar hypoplasia | Congenital pontocerebellar hypoplasia type 10 | Congenital pontocerebellar hypoplasia type 10 (disorder) | pontocerebellar hypoplasia type 10
BMGC_DS17576,BMG_DS067496,"Severe intellectual disability, progressive spastic diplegia syndrome | Severe intellectual disability, progressive spastic diplegia syndrome (disorder)"
BMGC_DS17577,BMG_DS067497,Autosomal recessive spastic paraplegia type 69 | Autosomal recessive spastic paraplegia type 69 (disorder) | autosomal recessive spastic paraplegia type 69
BMGC_DS17578,BMG_DS067498,Autosomal recessive spastic paraplegia type 71 | Autosomal recessive spastic paraplegia type 71 (disorder) | autosomal recessive spastic paraplegia type 71
BMGC_DS17579,BMG_DS067500,"Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency | Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency"
BMGC_DS17580,BMG_DS067501,"Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome | Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder)"
BMGC_DS17581,BMG_DS067503,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (disorder) | Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
BMGC_DS17582,BMG_DS067504,C9ORF72-related Huntington disease phenocopy | Huntington disease-like syndrome due to C9ORF72 expansions | Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions | Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
BMGC_DS17583,BMG_DS067505,Lipoic acid synthetase deficiency | Lipoic acid synthetase deficiency (disorder)
BMGC_DS17584,BMG_DS067506,Lipoyl transferase 1 deficiency | Lipoyl transferase 1 deficiency (disorder)
BMGC_DS17585,BMG_DS067507,Autosomal recessive spastic paraplegia type 60 | Autosomal recessive spastic paraplegia type 60 (disorder) | autosomal recessive spastic paraplegia type 60
BMGC_DS17586,BMG_DS067508,Autosomal recessive spastic paraplegia type 66 | Autosomal recessive spastic paraplegia type 66 (disorder) | autosomal recessive spastic paraplegia type 66
BMGC_DS17587,BMG_DS067510,Severe combined immunodeficiency due to IKK2 deficiency | Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency | Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder)
BMGC_DS17588,BMG_DS067511,"Peripheral neuropathy, myopathy, hoarseness, deafness syndrome | Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome | Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder)"
BMGC_DS17589,BMG_DS067512,"Autosomal recessive spinocerebellar ataxia type 20 | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder) | SCAR20 - autosomal recessive spinocerebellar ataxia type 20 | autosomal recessive spinocerebellar ataxia 20"
BMGC_DS17590,BMG_DS067513,"FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome | FHONDA syndrome | Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome | Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | foveal hypoplasia 2"
BMGC_DS17591,BMG_DS067514,"Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"
BMGC_DS17592,BMG_DS067517,X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)
BMGC_DS17593,BMG_DS067518,"Mitochondrial DNA depletion syndrome hepatocerebrorenal form | Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form | Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (disorder) | mitochondrial DNA depletion syndrome, hepatocerebrorenal form"
BMGC_DS17594,BMG_DS067519,Carbohydrate deficient glycoprotein syndrome type 1u | Congenital disorder of glycosylation type 1u | Congenital muscular dystrophy with intellectual disability and severe epilepsy | Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder) | congenital muscular dystrophy with intellectual disability and severe epilepsy
BMGC_DS17595,BMG_DS067520,Lethal arteriopathy syndrome due to fibulin-4 deficiency | Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | lethal arteriopathy syndrome due to fibulin-4 deficiency
BMGC_DS17596,BMG_DS067523,High bone mass osteogenesis imperfecta | High bone mass osteogenesis imperfecta (disorder) | high bone mass osteogenesis imperfecta
BMGC_DS17597,BMG_DS067524,Autosomal recessive spondylometaphyseal dysplasia Megarbane type | Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
BMGC_DS17598,BMG_DS067525,X-linked osteoporosis with fractures | X-linked osteoporosis with fractures (disorder)
BMGC_DS17599,BMG_DS067526,X-linked calvarial hyperostosis | X-linked calvarial hyperostosis (disorder)
BMGC_DS17600,BMG_DS067529,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
BMGC_DS17601,BMG_DS067530,Sodium channelopathy-related small fiber neuropathy | Sodium channelopathy-related small fiber neuropathy (disorder) | Sodium channelopathy-related small fibre neuropathy
BMGC_DS17602,BMG_DS067531,"Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)"
BMGC_DS17603,BMG_DS067532,Developmental delay due to ALDH6A1 (aldehyde dehydrogenase 6 family member A1) deficiency | Developmental delay due to MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)
BMGC_DS17604,BMG_DS067535,Autosomal recessive nail dysplasia | Autosomal recessive nail dysplasia (disorder)
BMGC_DS17605,BMG_DS067536,Haemoglobinopathy Toms River | Hemoglobinopathy Toms River | Hemoglobinopathy Toms River (disorder) | Transient neonatal cyanosis and anaemia due to Toms River Haemoglobin | Transient neonatal cyanosis and anemia due to Toms River Hemoglobin | hemoglobinopathy Toms River
BMGC_DS17606,BMG_DS067537,Hereditary sensorimotor neuropathy with hyperelastic skin | Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) | hereditary sensorimotor neuropathy with hyperelastic skin
BMGC_DS17607,BMG_DS067538,Fatal infantile hypertonic myofibrillar myopathy | Fatal infantile hypertonic myofibrillar myopathy (disorder) | fatal infantile hypertonic myofibrillar myopathy
BMGC_DS17608,BMG_DS067539,"Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"
BMGC_DS17609,BMG_DS067540,Inherited congenital spastic quadriplegia | Inherited congenital spastic tetraplegia | Inherited congenital spastic tetraplegia (disorder)
BMGC_DS17610,BMG_DS067543,Haemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (disorder) | hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
BMGC_DS17611,BMG_DS067544,CHC (hereditary cryohydrocytosis) type 2 | Hereditary cryohydrocytosis type 2 | Hereditary cryohydrocytosis with reduced stomatin | Hereditary cryohydrocytosis with reduced stomatin (disorder) | Stomatin-deficient cryohydrocytosis | sdCHC - stomatin-deficient cryohydrocytosis
BMGC_DS17612,BMG_DS067546,"Brachydactyly, short stature, retinitis pigmentosa syndrome | Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)"
BMGC_DS17613,BMG_DS067564,Recurrent Neisseria infection due to factor D deficiency | Recurrent Neisseria infection due to factor D deficiency (disorder)
BMGC_DS17614,BMG_DS067571,PME (progressive myoclonic epilepsy) type 5 | Progressive myoclonic epilepsy type 5 | Progressive myoclonic epilepsy type 5 (disorder) | Progressive myoclonus epilepsy type 5
BMGC_DS17615,BMG_DS067573,Atypical dentin dysplasia due to SMOC2 deficiency | Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency | Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Dentin dysplasia type 1 with microdontia and shape anomalies | atypical dentin dysplasia due to SMOC2 deficiency
BMGC_DS17616,BMG_DS067574,"Autosomal recessive cerebellar ataxia, psychomotor delay syndrome | Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder) | Autosomal recessive spinocerebellar ataxia type 11 | autosomal recessive spinocerebellar ataxia 11"
BMGC_DS17617,BMG_DS067575,"10p12p11 microdeletion syndrome | DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion | Deletion 10p11.21p12.31 | Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) | Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion | Monosomy 10p11.21p12.31"
BMGC_DS17618,BMG_DS067576,GOSR2 (golgi SNAP receptor complex member 2) related progressive myoclonus ataxia | GOSR2-related progressive myoclonus ataxia | North Sea progressive myoclonus epilepsy | PME (progressive myoclonic epilepsy) type 6 | Progressive myoclonic epilepsy type 6 | Progressive myoclonic epilepsy type 6 (disorder) | Progressive myoclonus epilepsy type 6 | progressive myoclonic epilepsy type 6
BMGC_DS17619,BMG_DS067577,Autosomal recessive optic atrophy OPA7 (optic atrophy type 7) | Autosomal recessive optic atrophy OPA7 type | Autosomal recessive optic atrophy type 7 | Autosomal recessive optic atrophy type 7 (disorder)
BMGC_DS17620,BMG_DS067578,"Macrocephaly, intellectual disability, autism syndrome | Macrocephaly, intellectual disability, autism syndrome (disorder)"
BMGC_DS17621,BMG_DS067579,"46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)"
BMGC_DS17622,BMG_DS067580,"46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency | 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency | 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | XY sex reversal adrenal failure"
BMGC_DS17623,BMG_DS067582,Short stature due to partial GHR (growth hormone receptor) deficiency | Short stature due to partial growth hormone receptor deficiency | Short stature due to partial growth hormone receptor deficiency (disorder)
BMGC_DS17624,BMG_DS067583,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (disorder)
BMGC_DS17625,BMG_DS067586,PME (progressive myoclonic epilepsy) type 8 | Progressive myoclonic epilepsy due to CERS1 (ceramide synthase 1) deficiency | Progressive myoclonic epilepsy due to ceramide synthase 1 deficiency | Progressive myoclonic epilepsy type 8 | Progressive myoclonic epilepsy type 8 (disorder) | Progressive myoclonus epilepsy type 8 | progressive myoclonic epilepsy type 8
BMGC_DS17626,BMG_DS067587,Combined immunodeficiency due to IKAROS deficiency | Pancytopenia due to IKAROS family zinc finger 1 mutations | Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) | Pancytopenia due to IKZF1 mutations
BMGC_DS17627,BMG_DS067588,Distal nebulin myopathy | Distal nebulin myopathy (disorder) | Nebulin-related early-onset distal myopathy | nebulin-related early-onset distal myopathy
BMGC_DS17628,BMG_DS067594,ABri amyloidosis | Familial British dementia with amyloid angiopathy | Familial dementia British type | Familial dementia British type (disorder)
BMGC_DS17629,BMG_DS067597,Congenital muscular dystrophy with intellectual disability | Congenital muscular dystrophy with intellectual disability (disorder) | congenital muscular dystrophy with intellectual disability
BMGC_DS17630,BMG_DS067598,Congenital muscular dystrophy without intellectual disability | Congenital muscular dystrophy without intellectual disability (disorder) | congenital muscular dystrophy without intellectual disability
BMGC_DS17631,BMG_DS067599,Congenital muscular dystrophy with cerebellar involvement | Congenital muscular dystrophy with cerebellar involvement (disorder)
BMGC_DS17632,BMG_DS067604,Chronic respiratory distress with surfactant metabolism deficiency | Chronic respiratory distress with surfactant metabolism deficiency (disorder) | chronic respiratory distress with surfactant metabolism deficiency
BMGC_DS17633,BMG_DS067609,Autosomal recessive spastic paraplegia type 49 | Hereditary sensory and autonomic neuropathy due to TECPR2 (tectonin beta-propeller repeat containing 2) mutation | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder)
BMGC_DS17634,BMG_DS067610,Autosomal recessive severe congenital neutropenia due to JAGN1 (jagunal homolog 1) deficiency | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency | Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder)
BMGC_DS17635,BMG_DS067611,Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency | Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency (disorder) | Autosomal recessive severe congenital neutropenia due to CXCR2 (C-X-C motif chemokine receptor 2) deficiency | Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency | autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
BMGC_DS17636,BMG_DS067612,Autosomal recessive severe congenital neutropenia due to CSF3R (colony stimulating factor 3 receptor) deficiency | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency | Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder)
BMGC_DS17637,BMG_DS067613,Autosomal dominant secondary erythrocytosis | Autosomal dominant secondary polycythaemia | Autosomal dominant secondary polycythemia | Autosomal dominant secondary polycythemia (disorder)
BMGC_DS17638,BMG_DS067619,Primary immunodeficiency with post-MMR (measles-mumps-rubella) vaccine viral infection | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder)
BMGC_DS17639,BMG_DS067620,"Megalocornea, spherophakia, secondary glaucoma syndrome | Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | glaucoma secondary to spherophakia/ectopia lentis and megalocornea"
BMGC_DS17640,BMG_DS067623,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder)
BMGC_DS17641,BMG_DS067625,Hereditary persistence of fetal haemoglobin with sickle cell disease syndrome | Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome | Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome (disorder) | hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
BMGC_DS17642,BMG_DS067626,Hereditary isolated aplastic anaemia | Hereditary isolated aplastic anemia | Hereditary isolated aplastic anemia (disorder)
BMGC_DS17643,BMG_DS067628,Obesity due to CEP19 deficiency | Obesity due to centrosomal protein 19 deficiency | Obesity due to centrosomal protein 19 deficiency (disorder)
BMGC_DS17644,BMG_DS067629,"15q26.3 microdeletion syndrome | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)"
BMGC_DS17645,BMG_DS067630,Autosomal recessive limb girdle muscular dystrophy due to ISPD deficiency | Autosomal recessive limb girdle muscular dystrophy type 2U | Autosomal recessive limb girdle muscular dystrophy type 2U (disorder) | LGMD2U - autosomal recessive limb girdle muscular dystrophy type 2U | autosomal recessive limb-girdle muscular dystrophy type 2U
BMGC_DS17646,BMG_DS067632,Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency | Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) | Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency | severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
BMGC_DS17647,BMG_DS067633,COXPD11 - combined oxidative phosphorylation defect type 11 | Combined oxidative phosphorylation defect type 11 | Combined oxidative phosphorylation defect type 11 (disorder) | combined oxidative phosphorylation defect type 11
BMGC_DS17648,BMG_DS067638,Familial steroid-resistant nephrotic syndrome with sensorineural deafness | Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder)
BMGC_DS17649,BMG_DS067640,FPLD4 - familial partial lipodystrophy type 4 | PLIN1-related familial partial lipodystrophy | Perilipin 1 related familial partial lipodystrophy | Perilipin 1 related familial partial lipodystrophy (disorder)
BMGC_DS17650,BMG_DS067641,Severe combined immunodeficiency due to LCK (lymphocyte-specific protein-tyrosine kinase) deficiency | Severe combined immunodeficiency due to LCK deficiency | Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency | Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)
BMGC_DS17651,BMG_DS067642,Lower motor neuron syndrome with late-adult onset | Lower motor neuron syndrome with late-adult onset (disorder)
BMGC_DS17652,BMG_DS067643,21q22.13q22.2 microdeletion syndrome | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) | Monosomy 21q22.13q22.2
BMGC_DS17653,BMG_DS067644,Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis | Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis | Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis (disorder)
BMGC_DS17654,BMG_DS067645,Complete factor I deficiency | Immunodeficiency with factor I anomaly | Immunodeficiency with factor I anomaly (disorder)
BMGC_DS17655,BMG_DS067648,X-linked intellectual disability due to GRIA3 mutations | X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations | X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations (disorder)
BMGC_DS17656,BMG_DS067651,Obesity due to SIM bHLH transcription factor 1 deficiency | Obesity due to SIM bHLH transcription factor 1 deficiency (disorder) | Obesity due to SIM1 deficiency | obesity due to SIM1 deficiency
BMGC_DS17657,BMG_DS067655,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder) | mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"
BMGC_DS17658,BMG_DS067658,"Hirschsprung disease, ganglioneuroblastoma syndrome | Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Hirschsprung disease-ganglioneuroblastoma syndrome"
BMGC_DS17659,BMG_DS067659,"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency | Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Hyperinsulinemic hypoglycaemia due to SUR1 deficiency, diazoxide-resistant focal form | Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form | diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"
BMGC_DS17660,BMG_DS067660,"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder) | Hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency, diazoxide-resistant focal form | Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form | diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"
BMGC_DS17661,BMG_DS067661,Combined immunodeficiency due to RAG 1/2 (recombination activating gene 1/2) deficiency | Combined immunodeficiency due to RAG 1/2 deficiency | Combined immunodeficiency with granulomatosis | Combined immunodeficiency with granulomatosis (disorder)
BMGC_DS17662,BMG_DS067662,Autosomal recessive secondary erythrocytosis non-Chuvash type | Autosomal recessive secondary polycythaemia non-Chuvash type | Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene | Autosomal recessive secondary polycythaemia not associated with Von Hippel Lindau gene | Autosomal recessive secondary polycythemia non-Chuvash type | Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene | Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene | Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder)
BMGC_DS17663,BMG_DS067663,Autosomal recessive hyperinsulinemic hypoglycaemia due to SUR1 deficiency | Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency | Autosomal recessive hyperinsulinism due to SUR1 deficiency | Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency | Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | autosomal recessive hyperinsulinism due to SUR1 deficiency
BMGC_DS17664,BMG_DS067664,Autosomal recessive hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency | Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (disorder) | autosomal recessive hyperinsulinism due to Kir6.2 deficiency
BMGC_DS17665,BMG_DS067665,Alpha-B crystallin-related late-onset distal myopathy | Alpha-B crystallin-related late-onset myopathy | Alpha-B crystallin-related late-onset myopathy (disorder) | Late-onset distal crystallinopathy
BMGC_DS17666,BMG_DS067670,Combined immunodeficiency due to IL21R deficiency | Combined immunodeficiency due to interleukin 21 receptor deficiency | Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder)
BMGC_DS17667,BMG_DS067671,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder)
BMGC_DS17668,BMG_DS067672,Familial congenital controlateral synkinesia | Familial congenital mirror movements | Familial congenital mirror movements (disorder) | Hereditary congenital controlateral synkinesia | Hereditary congenital mirror movements | Isolated congenital controlateral synkinesia | Isolated congenital mirror movements
BMGC_DS17669,BMG_DS067674,Benign COX (cytochrome C oxidase) deficiency | Infantile reversible cytochrome C oxidase deficiency myopathy | Mitochondrial myopathy with reversible COX (cytochrome C oxidase) deficiency | Mitochondrial myopathy with reversible complex IV deficiency | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) | Reversible infantile cytochrome C oxidase deficiency | Reversible infantile respiratory chain deficiency
BMGC_DS17670,BMG_DS067675,Familial mesial temporal lobe epilepsy with febrile seizures | Familial mesial temporal lobe epilepsy with febrile seizures (disorder)
BMGC_DS17671,BMG_DS067683,Muscle eye brain disease with bilateral multicystic leucodystrophy | Muscle eye brain disease with bilateral multicystic leukodystrophy | Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder) | muscle-eye-brain disease with bilateral multicystic leucodystrophy
BMGC_DS17672,BMG_DS067684,"Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency | Multiple congenital anomalies, hypotonia, seizures syndrome | Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation | multiple congenital anomalies-hypotonia-seizures syndrome"
BMGC_DS17673,BMG_DS067690,Obesity due to leptin receptor gene deficiency | Obesity due to leptin receptor gene deficiency (disorder)
BMGC_DS17674,BMG_DS067692,"PASH (pyoderma gangrenosum, acne, suppurative hidradenitis) syndrome | PASH syndrome | Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome | Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome (disorder) | pyoderma gangrenosum-acne-suppurative hidradenitis syndrome"
BMGC_DS17675,BMG_DS067693,Hyperekplexia epilepsy syndrome | Hyperekplexia epilepsy syndrome (disorder)
BMGC_DS17676,BMG_DS067694,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity
BMGC_DS17677,BMG_DS067703,Synucleinopathies | synucleinopathy
BMGC_DS17678,BMG_DS067762,familial papillary or follicular thyroid carcinoma
BMGC_DS17679,BMG_DS067813,"Developmental delay, facial dysmorphism syndrome due to MED13L deficiency | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)"
BMGC_DS17680,BMG_DS067834,21q22.11q22.12 microdeletion syndrome | 21q22.11q22.12 microdeletion syndrome (disorder) | Monosomy 21q22.11q22.12
BMGC_DS17681,BMG_DS067835,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) | childhood-onset autosomal recessive myopathy with external ophthalmoplegia
BMGC_DS17682,BMG_DS067836,"Intellectual disability, hyperkinetic movement, truncal ataxia syndrome | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | intellectual disability-hyperkinetic movement-truncal ataxia syndrome"
BMGC_DS17683,BMG_DS067837,"ANK3-related intellectual disability, sleep disturbance syndrome | Ankyrin 3 related intellectual disability, sleep disturbance syndrome | Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)"
BMGC_DS17684,BMG_DS067843,HMPS - hereditary mixed polyposis syndrome | Hereditary mixed polyposis syndrome | Hereditary mixed polyposis syndrome (disorder) | hereditary mixed polyposis syndrome
BMGC_DS17685,BMG_DS067857,DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome | DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder) | DNA2-related mitochondrial DNA deletion syndrome | Mitochondrial DNA deletion syndrome with limb-girdle weakness | Mitochondrial DNA deletion syndrome with progressive myopathy
BMGC_DS17686,BMG_DS067858,"ARTHROGRYPOSIS, DISTAL, TYPE 2B4 | arthrogryposis, distal, type 2B4"
BMGC_DS17687,BMG_DS067859,CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA | calvarial doughnut lesions with bone fragility | calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
BMGC_DS17688,BMG_DS067860,"GIST-PLUS SYNDROME | polyps, multiple and recurrent inflammatory fibroid, gastrointestinal"
BMGC_DS17689,BMG_DS067861,D-LACTIC ACIDURIA WITH GOUT | lactic aciduria due to D-lactic acid
BMGC_DS17690,BMG_DS067862,"MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY"
BMGC_DS17691,BMG_DS067863,MULLEGAMA-KLEIN-MARTINEZ SYNDROME | Mullegama-Klein-Martinez syndrome
BMGC_DS17692,BMG_DS067864,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108 | X-linked intellectual developmental disorder 108 | intellectual developmental disorder, X-linked 108"
BMGC_DS17693,BMG_DS067865,PAGANINI-MIOZZO SYNDROME | Paganini-Miozzo syndrome
BMGC_DS17694,BMG_DS067866,"NEPHROTIC SYNDROME, TYPE 20 | nephrotic syndrome type 20 | nephrotic syndrome, type 20"
BMGC_DS17695,BMG_DS067867,"DEAFNESS, Y-LINKED 2 | Y-linked deafness 2 | deafness, Y-linked 2"
BMGC_DS17696,BMG_DS067868,"ARTHROGRYPOSIS, DISTAL, TYPE 2B1 | distal arthrogryposis type 2B1"
BMGC_DS17697,BMG_DS067869,CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | lethal arthrogryposis-anterior horn cell disease syndrome
BMGC_DS17698,BMG_DS067870,"MICROPHTHALMIA, SYNDROMIC 15"
BMGC_DS17699,BMG_DS067871,CONE-ROD DYSTROPHY AND HEARING LOSS 1 | cone-rod dystrophy and hearing loss 1
BMGC_DS17700,BMG_DS067872,WARBURG-CINOTTI SYNDROME | warburg-cinotti syndrome
BMGC_DS17701,BMG_DS067873,DIAMOND-BLACKFAN ANEMIA 18 | Diamond-Blackfan anemia 18
BMGC_DS17702,BMG_DS067874,DIAMOND-BLACKFAN ANEMIA 19 | Diamond-Blackfan anemia 19
BMGC_DS17703,BMG_DS067875,DIAMOND-BLACKFAN ANEMIA 20 | Diamond-Blackfan anemia 20
BMGC_DS17704,BMG_DS067876,"HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 2 | hypomagnesemia, seizures, and intellectual disability 2"
BMGC_DS17705,BMG_DS067877,"TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome | Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome | Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) | intellectual developmental disorder with cardiac defects and dysmorphic facies"
BMGC_DS17706,BMG_DS067878,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE | basal ganglia calcification, idiopathic, 7, autosomal recessive"
BMGC_DS17707,BMG_DS067879,CARKD deficiency | NAD(P)HX dehydratase deficiency | NAD(P)HX dehydratase deficiency (disorder)
BMGC_DS17708,BMG_DS067880,"MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC | myasthenic syndrome, congenital, 25, presynaptic"
BMGC_DS17709,BMG_DS067881,CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 | congenital disorder of glycosylation with defective fucosylation 2
BMGC_DS17710,BMG_DS067882,LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION | lissencephaly 9 with complex brainstem malformation
BMGC_DS17711,BMG_DS067883,"Neonatal epileptic encephalopathy due to deficiency of glutaminase | Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder) | Neonatal epileptic encephalopathy due to glutaminase deficiency | developmental and epileptic encephalopathy, 71"
BMGC_DS17712,BMG_DS067884,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 | combined oxidative phosphorylation deficiency 37
BMGC_DS17713,BMG_DS067885,GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT | global developmental delay with or without impaired intellectual development
BMGC_DS17714,BMG_DS067886,"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS | encephalopathy, progressive, early-onset, with episodic rhabdomyolysis"
BMGC_DS17715,BMG_DS067887,MENKE-HENNEKAM SYNDROME 1 | Menke-Hennekam syndrome 1
BMGC_DS17716,BMG_DS067888,MENKE-HENNEKAM SYNDROME 2 | Menke-Hennekam syndrome 2
BMGC_DS17717,BMG_DS067889,"INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY | intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency"
BMGC_DS17718,BMG_DS067890,"INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development"
BMGC_DS17719,BMG_DS067891,SPERMATOGENIC FAILURE 35 | spermatogenic failure 35
BMGC_DS17720,BMG_DS067892,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE | intellectual developmental disorder with abnormal behavior, microcephaly, and short stature"
BMGC_DS17721,BMG_DS067893,POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME | polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
BMGC_DS17722,BMG_DS067894,RETINITIS PIGMENTOSA 85 | retinitis pigmentosa 85
BMGC_DS17723,BMG_DS067895,"MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS | microcephaly, growth deficiency, seizures, and brain malformations"
BMGC_DS17724,BMG_DS067896,GALLOWAY-MOWAT SYNDROME 6 | Galloway-Mowat syndrome 6
BMGC_DS17725,BMG_DS067897,GALLOWAY-MOWAT SYNDROME 7 | Galloway-Mowat syndrome 7
BMGC_DS17726,BMG_DS067898,GALLOWAY-MOWAT SYNDROME 8 | Galloway-Mowat syndrome 8
BMGC_DS17727,BMG_DS067899,"MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 25, primary, autosomal recessive"
BMGC_DS17728,BMG_DS067900,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 6 | oocyte maturation defect 6
BMGC_DS17729,BMG_DS067901,HOUGE-JANSSENS SYNDROME 3 | Houge-Janssens syndrome 3
BMGC_DS17730,BMG_DS067902,NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION | neurodevelopmental disorder with central and peripheral motor dysfunction
BMGC_DS17731,BMG_DS067903,"epilepsy, idiopathic generalized, susceptibility to, 15"
BMGC_DS17732,BMG_DS067904,CONE-ROD DYSTROPHY AND HEARING LOSS 2 | cone-rod dystrophy and hearing loss 2
BMGC_DS17733,BMG_DS067905,BRAIN SMALL VESSEL DISEASE 3 | brain small vessel disease 3
BMGC_DS17734,BMG_DS067906,COFFIN-SIRIS SYNDROME 8 | Coffin-Siris syndrome 8
BMGC_DS17735,BMG_DS067907,"SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS | short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis"
BMGC_DS17736,BMG_DS067908,"MYOCLONUS, FAMILIAL, 2 | myoclonus, familial, 2"
BMGC_DS17737,BMG_DS067909,"MTHFS (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome | MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome | Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome | Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder) | neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination"
BMGC_DS17738,BMG_DS067910,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 | autosomal recessive spinocerebellar ataxia 27 | spinocerebellar ataxia, autosomal recessive 27"
BMGC_DS17739,BMG_DS067911,TURNPENNY-FRY SYNDROME | turnpenny-fry syndrome
BMGC_DS17740,BMG_DS067912,"CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA"
BMGC_DS17741,BMG_DS067913,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 | developmental and epileptic encephalopathy 72 | developmental and epileptic encephalopathy, 72"
BMGC_DS17742,BMG_DS067914,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 | combined oxidative phosphorylation deficiency 38
BMGC_DS17743,BMG_DS067915,"RNF13-related severe early-onset epileptic encephalopathy | Ring finger protein 13-related severe early-onset epileptic encephalopathy | Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | developmental and epileptic encephalopathy, 73"
BMGC_DS17744,BMG_DS067916,"FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth) syndrome | FHEIG syndrome | Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome | Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) | facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome"
BMGC_DS17745,BMG_DS067917,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 | autosomal recessive intellectual developmental disorder 69 | intellectual developmental disorder, autosomal recessive 69"
BMGC_DS17746,BMG_DS067918,"Acute reversible leucoencephalopathy due to SLC13A3 deficiency | Acute reversible leucoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency | Acute reversible leucoencephalopathy with increased urinary alpha-ketoglutarate | Acute reversible leukoencephalopathy due to SLC13A3 deficiency | Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) | leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"
BMGC_DS17747,BMG_DS067919,"AMELOGENESIS IMPERFECTA, TYPE IIIC | amelogenesis imperfecta type 3C | amelogenesis imperfecta, type 3C"
BMGC_DS17748,BMG_DS067920,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 | spinocerebellar ataxia with axonal neuropathy type 3 | spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3"
BMGC_DS17749,BMG_DS067921,"SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE | spondyloepiphyseal dysplasia Kondo-Fu type | spondyloepiphyseal dysplasia, kondo-fu type"
BMGC_DS17750,BMG_DS067922,IMMUNODEFICIENCY 60 AND AUTOIMMUNITY | immunodeficiency 60
BMGC_DS17751,BMG_DS067923,"SEMDJL3 - spondyloepimetaphyseal dysplasia with joint laxity type 3 | Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type | Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) | Spondyloepimetaphyseal dysplasia with joint laxity type 3 | Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type | spondyloepimetaphyseal dysplasia with joint laxity, type 3"
BMGC_DS17752,BMG_DS067924,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 | developmental and epileptic encephalopathy 74 | developmental and epileptic encephalopathy, 74"
BMGC_DS17753,BMG_DS067925,COXPD39 - combined oxidative phosphorylation defect type 39 | Combined oxidative phosphorylation defect type 39 | Combined oxidative phosphorylation defect type 39 (disorder) | GFM2-related combined oxidative phosphorylation defect | GTP dependent ribosome recycling factor mitochondrial 2-related combined oxidative phosphorylation defect | combined oxidative phosphorylation deficiency 39
BMGC_DS17754,BMG_DS067926,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE | Charcot-Marie-Tooth disease type 2EE | Charcot-Marie-Tooth disease, axonal, type 2EE"
BMGC_DS17755,BMG_DS067927,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 | autosomal recessive intellectual developmental disorder 70 | intellectual developmental disorder, autosomal recessive 70"
BMGC_DS17756,BMG_DS067928,"LEUKODYSTROPHY, HYPOMYELINATING, 18 | hypomyelinating leukodystrophy 18 | leukodystrophy, hypomyelinating, 18"
BMGC_DS17757,BMG_DS067929,"DEAFNESS, AUTOSOMAL RECESSIVE 113 | autosomal recessive nonsyndromic deafness 113 | hearing loss, autosomal recessive 113"
BMGC_DS17758,BMG_DS067930,"GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE | global developmental delay, progressive ataxia, and elevated glutamine"
BMGC_DS17759,BMG_DS067931,Congenital myopathy with fast-twitch fiber atrophy | Congenital myopathy with fast-twitch fibre atrophy | Congenital myopathy with reduced type 2 muscle fibers | Congenital myopathy with reduced type 2 muscle fibers (disorder) | Congenital myopathy with reduced type 2 muscle fibres | Congenital myopathy with reduced type II muscle fibers | Congenital myopathy with reduced type II muscle fibres | Congenital myopathy with type 2 muscle fiber atrophy | Congenital myopathy with type 2 muscle fibre atrophy | Congenital myopathy with type II fiber atrophy | Congenital myopathy with type II fibre atrophy | congenital myopathy with reduced type 2 muscle fibers
BMGC_DS17760,BMG_DS067932,CATARACT 48 | cataract 48
BMGC_DS17761,BMG_DS067933,"METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION | metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression"
BMGC_DS17762,BMG_DS067934,"SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT | hereditary spastic paraplegia 80 | spastic paraplegia 80, autosomal dominant"
BMGC_DS17763,BMG_DS067935,"MYOECTODERMAL GONADAL DYSGENESIS SYNDROME | gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy"
BMGC_DS17764,BMG_DS067936,SPERMATOGENIC FAILURE 36 | spermatogenic failure 36
BMGC_DS17765,BMG_DS067937,"DEAFNESS, AUTOSOMAL RECESSIVE 100 | autosomal recessive nonsyndromic deafness 100 | hearing loss, autosomal recessive 100"
BMGC_DS17766,BMG_DS067938,NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS | neurodevelopmental disorder with impaired speech and hyperkinetic movements
BMGC_DS17767,BMG_DS067939,"encephalopathy, acute, infection-induced, susceptibility to, 9"
BMGC_DS17768,BMG_DS067940,SPERMATOGENIC FAILURE 37 | spermatogenic failure 37
BMGC_DS17769,BMG_DS067941,DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES | developmental delay with variable intellectual impairment and behavioral abnormalities
BMGC_DS17770,BMG_DS067942,"HYDATIDIFORM MOLE, RECURRENT, 3 | hydatidiform mole, recurrent, 3"
BMGC_DS17771,BMG_DS067943,"HYDATIDIFORM MOLE, RECURRENT, 4 | hydatidiform mole, recurrent, 4"
BMGC_DS17772,BMG_DS067944,SPERMATOGENIC FAILURE 38 | spermatogenic failure 38
BMGC_DS17773,BMG_DS067945,"DEAFNESS, AUTOSOMAL RECESSIVE 94 | autosomal recessive nonsyndromic deafness 94 | hearing loss, autosomal recessive 94"
BMGC_DS17774,BMG_DS067946,"ARTHROGRYPOSIS, DISTAL, TYPE 2B2 | arthrogryposis, distal, type 2B2 | distal arthrogryposis type 2B2"
BMGC_DS17775,BMG_DS067947,"ARTHROGRYPOSIS, DISTAL, TYPE 2B3 | arthrogryposis, distal, type 2B3 | distal arthrogryposis type 2B3"
BMGC_DS17776,BMG_DS067948,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 | developmental and epileptic encephalopathy 75 | developmental and epileptic encephalopathy, 75"
BMGC_DS17777,BMG_DS067949,"SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE | spastic ataxia 9, autosomal recessive"
BMGC_DS17778,BMG_DS067950,Oculo-cerebro-dental syndrome | Oculocerebrodental syndrome | Oculocerebrodental syndrome (disorder) | oculocerebrodental syndrome
BMGC_DS17779,BMG_DS067951,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES | neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
BMGC_DS17780,BMG_DS067952,"CILIARY DYSKINESIA, PRIMARY, 41 | ciliary dyskinesia, primary, 41 | primary ciliary dyskinesia 41"
BMGC_DS17781,BMG_DS067953,"NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA | neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia"
BMGC_DS17782,BMG_DS067954,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES | intellectual developmental disorder with short stature and variable skeletal anomalies
BMGC_DS17783,BMG_DS067955,DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM | developmental delay with or without dysmorphic facies and autism
BMGC_DS17784,BMG_DS067956,"DEAFNESS, AUTOSOMAL RECESSIVE 114 | autosomal recessive nonsyndromic deafness 114 | hearing loss, autosomal recessive 114"
BMGC_DS17785,BMG_DS067957,"DEAFNESS, AUTOSOMAL RECESSIVE 115 | autosomal recessive nonsyndromic deafness 115 | hearing loss, autosomal recessive 115"
BMGC_DS17786,BMG_DS067958,IMMUNODEFICIENCY 62 | immunodeficiency 62
BMGC_DS17787,BMG_DS067959,KHAN-KHAN-KATSANIS SYNDROME | Khan-Khan-Katsanis syndrome
BMGC_DS17788,BMG_DS067960,"BLEEDING DISORDER, PLATELET-TYPE, 22 | bleeding disorder, platelet-type, 22"
BMGC_DS17789,BMG_DS067961,PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 6 | paragangliomas 6
BMGC_DS17790,BMG_DS067962,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 | developmental and epileptic encephalopathy 76 | developmental and epileptic encephalopathy, 76"
BMGC_DS17791,BMG_DS067963,"CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B | contractures, pterygia, and variable skeletal fusions syndrome 1B"
BMGC_DS17792,BMG_DS067964,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS | intellectual developmental disorder with severe speech and ambulation defects
BMGC_DS17793,BMG_DS067965,PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 7 | paragangliomas 7
BMGC_DS17794,BMG_DS067966,"BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS | brain abnormalities, neurodegeneration, and dysosteosclerosis"
BMGC_DS17795,BMG_DS067967,"CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME | cerebellar, ocular, craniofacial, and genital syndrome"
BMGC_DS17796,BMG_DS067968,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT | neurodevelopmental disorder with seizures and speech and walking impairment
BMGC_DS17797,BMG_DS067969,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 | generalized epilepsy with febrile seizures plus 10 | generalized epilepsy with febrile seizures plus, type 10"
BMGC_DS17798,BMG_DS067970,"ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE | arthrogryposis multiplex congenita 3, myogenic type | arthrogryposis multiplex congenita-3"
BMGC_DS17799,BMG_DS067971,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES | neurodevelopmental disorder with microcephaly and structural brain anomalies
BMGC_DS17800,BMG_DS067972,"HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES | hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities"
BMGC_DS17801,BMG_DS067973,"CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES | congenital hypotonia, epilepsy, developmental delay, and digital anomalies"
BMGC_DS17802,BMG_DS067974,IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY | immunodeficiency 63 | immunodeficiency 63 with lymphoproliferation and autoimmunity
BMGC_DS17803,BMG_DS067975,AORTIC VALVE DISEASE 3 | aortic valve disease 3
BMGC_DS17804,BMG_DS067976,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS | neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
BMGC_DS17805,BMG_DS067977,"POLYDACTYLY, POSTAXIAL, TYPE A10 | polydactyly, postaxial, type a10"
BMGC_DS17806,BMG_DS067978,NOONAN SYNDROME 11 | Noonan syndrome 11
BMGC_DS17807,BMG_DS067979,HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS | holoprosencephaly 12 | holoprosencephaly 12 with or without pancreatic agenesis
BMGC_DS17808,BMG_DS067980,CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY | cerebellar atrophy with seizures and variable developmental delay
BMGC_DS17809,BMG_DS067981,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 | autosomal recessive intellectual developmental disorder 71 | intellectual developmental disorder, autosomal recessive 71"
BMGC_DS17810,BMG_DS067982,STOLERMAN NEURODEVELOPMENTAL SYNDROME | Stolerman neurodevelopmental syndrome | neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
BMGC_DS17811,BMG_DS067983,"NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY | neuropathy, hereditary motor and sensory, type VIc, with optic atrophy"
BMGC_DS17812,BMG_DS067984,O'Donnell-Luria-Rodan syndrome
BMGC_DS17813,BMG_DS067985,LEBER CONGENITAL AMAUROSIS 19 | Leber congenital amaurosis 19 | leber congenital amaurosis 19
BMGC_DS17814,BMG_DS067986,"HYPER-IgE SYNDROME 4B, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | hyper IgE recurrent infection syndrome 4 | hyper-IgE recurrent infection syndrome 4, autosomal recessive"
BMGC_DS17815,BMG_DS067987,MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) | mitochondrial DNA depletion syndrome 16 | mitochondrial DNA depletion syndrome 16 (hepatic type)
BMGC_DS17816,BMG_DS067988,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 | autosomal recessive Robinow syndrome 2 | robinow syndrome, autosomal recessive 2"
BMGC_DS17817,BMG_DS067989,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 | erythrokeratodermia variabilis et progressiva 6
BMGC_DS17818,BMG_DS067990,"ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE | ectodermal dysplasia 15 | ectodermal dysplasia 15, hypohidrotic/hair type"
BMGC_DS17819,BMG_DS067991,SHUKLA-VERNON SYNDROME | Shukla-Vernon syndrome
BMGC_DS17820,BMG_DS067992,"ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES | ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features"
BMGC_DS17821,BMG_DS067993,MICROPHTHALMIA AND/OR COLOBOMA WITH DEVELOPMENTAL DELAY
BMGC_DS17822,BMG_DS068002,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 | intellectual developmental disorder 59"
BMGC_DS17823,BMG_DS068011,"MITOCHONDRIAL MYOPATHY, EPISODIC, WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY"
BMGC_DS17824,BMG_DS068012,"MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"
BMGC_DS17825,BMG_DS068016,"HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHISM | hydrops fetalis, nonimmune, with gracile bones and dysmorphic features"
BMGC_DS17826,BMG_DS068021,(Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) (disorder) | (Anemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | Anaemia - iron defic. | Anemia - iron defic. | Iron deficiency anaemia | Iron deficiency anaemias | Iron deficiency anemia | Iron deficiency anemias | Kelly-Paterson synd. | Kelly-Paterson syndrome | Microcytic anaemia | Microcytic anemia | Microcytic anemia (disorder) | Plummer-Vinson syndr. | Plummer-Vinson syndrome | microcytic anemia
BMGC_DS17827,BMG_DS068044,Familial Exudative Vitreoretinopathies | X-Linked Familial Exudative Vitreoretinopathy
BMGC_DS17828,BMG_DS068047,Inherited Immunodeficiency Diseases | Primary Immunodeficiency Diseases
BMGC_DS17829,BMG_DS068050,Dry Eye Syndromes | Evaporative Dry Eye Disease
BMGC_DS17830,BMG_DS068054,Adenylosuccinate lyase deficiency type 4
BMGC_DS17831,BMG_DS068055,Adenylosuccinate lyase deficiency type 3
BMGC_DS17832,BMG_DS068056,Adenylosuccinate lyase deficiency type 2
BMGC_DS17833,BMG_DS068057,Adenylosuccinate lyase deficiency type 1
BMGC_DS17834,BMG_DS068058,Autosomal dominant Robinow syndrome | Autosomal dominant Robinow syndrome (disorder) | autosomal dominant Robinow syndrome
BMGC_DS17835,BMG_DS068065,Bursitis | Pes Anserine Bursitis
BMGC_DS17836,BMG_DS068069,"SHORT SLEEP, FAMILIAL NATURAL, 1"
BMGC_DS17837,BMG_DS068070,Giant Axonal Neuropathy | giant axonal neuropathy | giant axonal neuropathy 1
BMGC_DS17838,BMG_DS068071,macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
BMGC_DS17839,BMG_DS068078,Complete achromatopsia | Complete achromatopsia (disorder) | Complete color blindness | Complete colour blindness | Rod monochromatism | Total color blindness | Total colour blindness
BMGC_DS17840,BMG_DS068080,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 | hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
BMGC_DS17841,BMG_DS068081,Blau syndrome | Blau syndrome (disorder)
BMGC_DS17842,BMG_DS068084,"HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT | hypopigmentation, organomegaly, and delayed myelination and development"
BMGC_DS17843,BMG_DS068085,"MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT | myopathy, distal, 6, adult-onset, autosomal dominant"
BMGC_DS17844,BMG_DS068086,"ROTHMUND-THOMSON SYNDROME, TYPE 2 | Rothmund-Thomson syndrome type 2"
BMGC_DS17845,BMG_DS068087,"NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT | neutropenia, severe congenital, 8, autosomal dominant | severe congenital neutropenia 8"
BMGC_DS17846,BMG_DS068088,COVID-19 | COVID-19 Virus Disease
BMGC_DS17847,BMG_DS068089,FFDD type 3 - focal facial dermal dysplasia type 3 | Focal facial dermal dysplasia 3 Setleis type | Focal facial dermal dysplasia type III | Focal facial dermal dysplasia type III (disorder) | Setleis syndrome
BMGC_DS17848,BMG_DS068188,"Blepharophimosis, intellectual disability syndrome | Blepharophimosis, intellectual disability syndrome (disorder) | blepharophimosis - intellectual disability syndrome"
BMGC_DS17849,BMG_DS068269,"Primary hyperaldosteronism, seizures, neurological abnormalities syndrome | Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)"
BMGC_DS17850,BMG_DS068303,"ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder) | CLN12 disease | Juvenile parkinsonism, neuronal ceroid lipofuscinosis"
BMGC_DS17851,BMG_DS068334,Trichorhinophalangeal syndrome type 1 and 3 | Trichorhinophalangeal syndrome type 1 and 3 (disorder) | Trichorhinophalangeal syndrome type I and III
BMGC_DS17852,BMG_DS068336,posterior hypospadias
BMGC_DS17853,BMG_DS068339,Generalised glucocorticoid resistance syndrome | Generalized glucocorticoid resistance syndrome | Generalized glucocorticoid resistance syndrome (disorder)
BMGC_DS17854,BMG_DS068347,Ninth cranial nerve palsy | Palsy of glossopharyngeal nerve | Palsy of glossopharyngeal nerve (disorder) | glossopharyngeal nerve paralysis
BMGC_DS17855,BMG_DS068349,Autosomal dominant progressive external ophthalmoplegia | Autosomal dominant progressive external ophthalmoplegia (disorder) | adPEO - autosomal dominant progressive external ophthalmoplegia | autosomal dominant progressive external ophthalmoplegia
BMGC_DS17856,BMG_DS068351,X-linked progressive cerebellar ataxia | X-linked progressive cerebellar ataxia (disorder)
BMGC_DS17857,BMG_DS068353,OCULOPHARYNGODISTAL MYOPATHY 1 | oculopharyngodistal myopathy 1
BMGC_DS17858,BMG_DS068354,"BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT | urinary bladder, atony of"
BMGC_DS17859,BMG_DS068355,"CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY | cerebellar hyplasia/atrophy, epilepsy, and global developmental delay | isolated cerebellar hypoplasia/agenesis"
BMGC_DS17860,BMG_DS068356,"HYDROCEPHALUS, NORMAL-PRESSURE, 1"
BMGC_DS17861,BMG_DS068357,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc | congenital disorder of glycosylation Icc | congenital disorder of glycosylation, type ICC"
BMGC_DS17862,BMG_DS068358,BASILICATA-AKHTAR SYNDROME | Basilicata-Akhtar syndrome
BMGC_DS17863,BMG_DS068359,"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 | congenital nongoitrous hypothyroidism 8 | hypothyroidism, congenital, nongoitrous, 8"
BMGC_DS17864,BMG_DS068360,"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9 | congenital nongoitrous hypothyroidism 9 | hypothyroidism, congenital, nongoitrous, 9"
BMGC_DS17865,BMG_DS068361,"CHOLESTASIS, LOW GGT, ACUTE LIVER FAILURE, AND NEURODEGENERATION SYNDROME | autosomal recessive spinocerebellar ataxia 21"
BMGC_DS17866,BMG_DS068362,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 | intellectual developmental disorder 61"
BMGC_DS17867,BMG_DS068363,"CONGENITAL MYOPATHY 16 | congenital myopathy 16 | myopathy, congenital, with tremor"
BMGC_DS17868,BMG_DS068364,IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION | immunodeficiency 64
BMGC_DS17869,BMG_DS068365,"TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE | nonphotosensitive trichothiodystrophy 7 | trichothiodystrophy 7, nonphotosensitive"
BMGC_DS17870,BMG_DS068366,NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES | neurodevelopmental disorder with visual defects and brain anomalies
BMGC_DS17871,BMG_DS068367,"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | developmental and epileptic encephalopathy, 77 | multiple congenital anomalies-hypotonia-seizures syndrome 4"
BMGC_DS17872,BMG_DS068368,"hepatitis, fulminant viral, susceptibility to"
BMGC_DS17873,BMG_DS068369,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7 | oocyte maturation defect 7
BMGC_DS17874,BMG_DS068370,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I | night blindness, congenital stationary, type1i"
BMGC_DS17875,BMG_DS068371,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78 | developmental and epileptic encephalopathy 78 | developmental and epileptic encephalopathy, 78"
BMGC_DS17876,BMG_DS068372,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 | developmental and epileptic encephalopathy 79 | developmental and epileptic encephalopathy, 79"
BMGC_DS17877,BMG_DS068373,"PADMAL - pontine autosomal dominant microangiopathy with leucoencephalopathy | PADMAL - pontine autosomal dominant microangiopathy with leukoencephalopathy | Pontine autosomal dominant microangiopathy with leucoencephalopathy | Pontine autosomal dominant microangiopathy with leukoencephalopathy | Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) | microangiopathy and leukoencephalopathy, pontine, autosomal dominant"
BMGC_DS17878,BMG_DS068374,MITOCHONDRIAL DNA DEPLETION SYNDROME 17 | mitochondrial DNA depletion syndrome 17
BMGC_DS17879,BMG_DS068375,"NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY | neurodevelopmental disorder with ataxia, hypotonia, and microcephaly"
BMGC_DS17880,BMG_DS068376,"NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES | neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies"
BMGC_DS17881,BMG_DS068377,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY | neurodevelopmental disorder with cerebellar hypoplasia and spasticity
BMGC_DS17882,BMG_DS068378,NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES | neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
BMGC_DS17883,BMG_DS068379,"CONGENITAL MYOPATHY 19 | congenital myopathy 19 | myopathy, congenital, progressive, with scoliosis"
BMGC_DS17884,BMG_DS068380,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 | developmental and epileptic encephalopathy 80 | developmental and epileptic encephalopathy, 80"
BMGC_DS17885,BMG_DS068381,"NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS | glycosylphosphatidylinositol biosynthesis defect 21"
BMGC_DS17886,BMG_DS068382,"SHORT SLEEP, FAMILIAL NATURAL, 2"
BMGC_DS17887,BMG_DS068383,"epilepsy, idiopathic generalized, susceptibility to, 16"
BMGC_DS17888,BMG_DS068384,"SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE | spastic tetraplegia and axial hypotonia, progressive"
BMGC_DS17889,BMG_DS068385,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
BMGC_DS17890,BMG_DS068386,SNIJDERS BLOK-FISHER SYNDROME | snijders blok-fisher syndrome
BMGC_DS17891,BMG_DS068387,"PONTOCEREBELLAR HYPOPLASIA, TYPE 13 | pontocerebellar hypoplasia type 13 | pontocerebellar hypoplasia, type 13"
BMGC_DS17892,BMG_DS068388,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES | intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies"
BMGC_DS17893,BMG_DS068389,"LOWER URINARY TRACT OBSTRUCTION, CONGENITAL | lower urinary tract obstruction, congenital"
BMGC_DS17894,BMG_DS068390,RETINITIS PIGMENTOSA 86 | retinitis pigmentosa 86
BMGC_DS17895,BMG_DS068391,Weiss-Kruszka syndrome
BMGC_DS17896,BMG_DS068392,ABDOMINAL OBESITY-METABOLIC SYNDROME 4 | abdominal obesity-metabolic syndrome 4
BMGC_DS17897,BMG_DS068393,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"
BMGC_DS17898,BMG_DS068394,NOONAN SYNDROME 12 | Noonan syndrome 12 | noonan syndrome 12
BMGC_DS17899,BMG_DS068395,Rothmund Thomson syndrome type 1 | Rothmund Thomson syndrome type 1 (disorder) | Rothmund-Thomson syndrome type 1
BMGC_DS17900,BMG_DS068396,"USHER SYNDROME, TYPE 1M | Usher syndrome, type 1M"
BMGC_DS17901,BMG_DS068397,SIDDIQI SYNDROME | Siddiqi syndrome
BMGC_DS17902,BMG_DS068398,OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 | oculopharyngeal myopathy with leukoencephalopathy 1
BMGC_DS17903,BMG_DS068399,INFANTILE LIVER FAILURE SYNDROME 3 | infantile liver failure syndrome 3
BMGC_DS17904,BMG_DS068400,SPERMATOGENIC FAILURE 39 | spermatogenic failure 39
BMGC_DS17905,BMG_DS068401,"OSTEOGENESIS IMPERFECTA, TYPE XX | osteogenesis imperfecta type 20 | osteogenesis imperfecta, type 20"
BMGC_DS17906,BMG_DS068402,DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 | diencephalic-mesencephalic junction dysplasia syndrome 2
BMGC_DS17907,BMG_DS068403,"IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS | immunodeficiency 65 | immunodeficiency 65, susceptibility to viral infections"
BMGC_DS17908,BMG_DS068404,"HALPERIN-BIRK SYNDROME | Halperin-Birk syndrome | neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies"
BMGC_DS17909,BMG_DS068405,NEUROOCULOCARDIOGENITOURINARY SYNDROME | neurooculocardiogenitourinary syndrome
BMGC_DS17910,BMG_DS068406,INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES | intellectual developmental disorder with impaired language and dysmorphic facies
BMGC_DS17911,BMG_DS068407,"CONGENITAL MYOPATHY 8 | congenital myopathy 8 | myopathy, congenital, with structured cores and z-line abnormalities"
BMGC_DS17912,BMG_DS068408,ZIMMERMANN-LABAND SYNDROME 3 | zimmermann-laband syndrome 3
BMGC_DS17913,BMG_DS068409,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES | neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
BMGC_DS17914,BMG_DS068410,"DIARRHEA 11, MALABSORPTIVE, CONGENITAL | diarrhea 11, malabsorptive, congenital"
BMGC_DS17915,BMG_DS068411,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 | developmental and epileptic encephalopathy 81 | developmental and epileptic encephalopathy, 81"
BMGC_DS17916,BMG_DS068412,SPERMATOGENIC FAILURE 40 | spermatogenic failure 40
BMGC_DS17917,BMG_DS068413,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 | autosomal recessive intellectual developmental disorder 72 | intellectual developmental disorder, autosomal recessive 72"
BMGC_DS17918,BMG_DS068414,SITOSTEROLEMIA 2 | sitosterolemia 2
BMGC_DS17919,BMG_DS068415,"HYDROCEPHALUS, CONGENITAL, 4 | hydrocephalus, congenital communicating, 1"
BMGC_DS17920,BMG_DS068416,SPERMATOGENIC FAILURE 41 | spermatogenic failure 41
BMGC_DS17921,BMG_DS068417,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES | intellectual developmental disorder with speech delay, autism, and dysmorphic facies"
BMGC_DS17922,BMG_DS068418,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 5 | pulmonary fibrosis and/or bone marrow failure, telomere-related, 5"
BMGC_DS17923,BMG_DS068419,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 | cortical dysplasia, complex, with other brain malformations 10"
BMGC_DS17924,BMG_DS068420,"pancreatic cancer, susceptibility to, 5"
BMGC_DS17925,BMG_DS068421,LESSEL-KUBISCH SYNDROME | lessel-kubisch syndrome
BMGC_DS17926,BMG_DS068422,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 | mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 | mitochondrial complex V (ATP synthase) deficiency nuclear type 6"
BMGC_DS17927,BMG_DS068423,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES | intellectual developmental disorder with short stature and behavioral abnormalities
BMGC_DS17928,BMG_DS068424,"LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE | hypomyelinating leukodystrophy 19 | leukodystrophy, hypomyelinating, 19, transient infantile"
BMGC_DS17929,BMG_DS068425,"ciliary dyskinesia, primary, 42"
BMGC_DS17930,BMG_DS068426,RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT | retinitis pigmentosa 87 | retinitis pigmentosa 87 with choroidal involvement
BMGC_DS17931,BMG_DS068427,"CILIARY DYSKINESIA, PRIMARY, 43 | ciliary dyskinesia, primary, 43 | primary ciliary dyskinesia 43"
BMGC_DS17932,BMG_DS068428,SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES | short stature and microcephaly with genital anomalies
BMGC_DS17933,BMG_DS068429,NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES | neurodevelopmental disorder with absent language and variable seizures
BMGC_DS17934,BMG_DS068430,NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
BMGC_DS17935,BMG_DS068431,"NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA | neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia"
BMGC_DS17936,BMG_DS068432,"megabladder, congenital"
BMGC_DS17937,BMG_DS068433,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 | developmental and epileptic encephalopathy 82 | developmental and epileptic encephalopathy, 82"
BMGC_DS17938,BMG_DS068434,PREMATURE OVARIAN FAILURE 16 | premature ovarian failure 16 | primary ovarian insufficiency 16
BMGC_DS17939,BMG_DS068435,HEYN-SPROUL-JACKSON SYNDROME | Heyn-Sproul-Jackson syndrome
BMGC_DS17940,BMG_DS068436,INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES | intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
BMGC_DS17941,BMG_DS068437,"ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES | ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies"
BMGC_DS17942,BMG_DS068438,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE | spondyloepimetaphyseal dysplasia, Isidor-Toutain type"
BMGC_DS17943,BMG_DS068439,LIANG-WANG SYNDROME | Liang-Wang syndrome
BMGC_DS17944,BMG_DS068440,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY | neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity"
BMGC_DS17945,BMG_DS068441,NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES | neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
BMGC_DS17946,BMG_DS068442,Poirier-Bienvenu neurodevelopmental syndrome
BMGC_DS17947,BMG_DS068443,NEUROMUSCULAR OCULOAUDITORY SYNDROME | neuromuscular disease and ocular or auditory anomalies with or without seizures
BMGC_DS17948,BMG_DS068444,"ANEURYSM, INTRACRANIAL BERRY, 12 | aneurysm, intracranial berry, 12 | intracranial berry aneurysm 12"
BMGC_DS17949,BMG_DS068445,STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS | structural brain anomalies with impaired intellectual development and craniosynostosis
BMGC_DS17950,BMG_DS068446,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 15 | pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures"
BMGC_DS17951,BMG_DS068447,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 | developmental and epileptic encephalopathy 83 | developmental and epileptic encephalopathy, 83"
BMGC_DS17952,BMG_DS068448,SPERMATOGENIC FAILURE 42 | spermatogenic failure 42
BMGC_DS17953,BMG_DS068449,INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES | intellectual developmental disorder with hypotonia and behavioral abnormalities
BMGC_DS17954,BMG_DS068450,SPERMATOGENIC FAILURE 43 | spermatogenic failure 43
BMGC_DS17955,BMG_DS068451,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS | neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
BMGC_DS17956,BMG_DS068452,CATIFA SYNDROME | Catifa syndrome
BMGC_DS17957,BMG_DS068453,JOUBERT SYNDROME 36 | Joubert syndrome 36
BMGC_DS17958,BMG_DS068454,"ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM | arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | arthrogryposis multiplex congenita-4"
BMGC_DS17959,BMG_DS068455,"CORNEAL DYSTROPHY, MEESMANN, 2 | Meesmann corneal dystrophy 2 | corneal dystrophy, Meesmann, 2"
BMGC_DS17960,BMG_DS068456,LYMPHATIC MALFORMATION 8 | lymphatic malformation 8
BMGC_DS17961,BMG_DS068457,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES | intellectual developmental disorder 60 with seizures"
BMGC_DS17962,BMG_DS068458,"NEPHROTIC SYNDROME, TYPE 21 | nephrotic syndrome type 21 | nephrotic syndrome, type 21"
BMGC_DS17963,BMG_DS068459,"CORNEAL DYSTROPHY, MEESMANN, 1 | Meesmann corneal dystrophy 1 | corneal dystrophy, Meesmann, 1"
BMGC_DS17964,BMG_DS068460,CHROMOSOME 12q15 DELETION SYNDROME
BMGC_DS17965,BMG_DS068468,HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY | congenital nonspherocytic hemolytic anemia 10 | hemolytic anemia due to glutathione reductase deficiency
BMGC_DS17966,BMG_DS068478,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SEVERE"
BMGC_DS17967,BMG_DS068488,"HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1 | hypoalphalipoproteinemia, primary, 1 | primary hypoalphalipoproteinemia 1"
BMGC_DS17968,BMG_DS068490,Secondary Vesicoureteral Reflux | Vesico-Ureteral Reflux
BMGC_DS17969,BMG_DS068505,Olfaction Disorders | Olfactory Impairment
BMGC_DS17970,BMG_DS068506,Antley-Bixler Syndrome | Antley-Bixler Syndrome Phenotype | Antley-Bixler syndrome
BMGC_DS17971,BMG_DS068507,"ALDH18A1-related de Barsy syndrome | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA"
BMGC_DS17972,BMG_DS068509,gastrointestinal defect and immunodeficiency syndrome
BMGC_DS17973,BMG_DS068512,Hemorrhagic Stroke
BMGC_DS17974,BMG_DS068516,Acromesomelic dwarfism | Acromesomelic dysplasia | Acromesomelic dysplasia (disorder) | Acromesomelic dysplasia group | Acromesomelic dysplasia group (disorder) | Acromesomelic dysplasia syndrome | Acromesomelic dysplasia syndrome (disorder) | acromesomelic dysplasia
BMGC_DS17975,BMG_DS068518,Cryptococcosis
BMGC_DS17976,BMG_DS068519,hereditary spastic paraplegia 30
BMGC_DS17977,BMG_DS068520,"Kostmann syndrome | Neutropenia, Severe Congenital, Autosomal Recessive 3"
BMGC_DS17978,BMG_DS068525,Bitemporal aplasia cutis congenita | Brauer syndrome | FFDD type 1 - focal facial dermal dysplasia type 1 | Focal facial dermal dysplasia 1 Brauer type | Focal facial dermal dysplasia type I | Focal facial dermal dysplasia type I (disorder) | focal facial dermal dysplasia type I
BMGC_DS17979,BMG_DS068526,"Hereditary sensory autonomic neuropathy type IA | Hereditary sensory autonomic neuropathy type IA (disorder) | neuropathy, hereditary sensory and autonomic, type 1A"
BMGC_DS17980,BMG_DS068535,COFFIN-SIRIS SYNDROME 11 | Coffin-Siris syndrome 11
BMGC_DS17981,BMG_DS068536,"HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 | familial isolated hypoparathyroidism | hypoparathyroidism, familial isolated 1"
BMGC_DS17982,BMG_DS068537,"radioulnar synostosis, nonsyndromic, susceptibility to"
BMGC_DS17983,BMG_DS068539,"Emery-Dreifuss Muscular Dystrophy 1 | Emery-Dreifuss muscular dystrophy 1, X-linked | X-Linked Emery-Dreifuss Muscular Dystrophy"
BMGC_DS17984,BMG_DS068540,Cardiometabolic Syndrome | Metabolic Syndrome
BMGC_DS17985,BMG_DS068542,SATB2-associated syndrome | Special AT-rich sequence-binding protein 2-associated syndrome | Special AT-rich sequence-binding protein 2-associated syndrome (disorder)
BMGC_DS17986,BMG_DS068548,acid sphingomyelinase deficiency
BMGC_DS17987,BMG_DS068550,"Autoimmune interstitial lung disease, arthritis syndrome | Autoimmune interstitial lung disease, arthritis syndrome (disorder) | COPA (coatomer protein complex subunit alpha) syndrome | autoimmune interstitial lung disease-arthritis syndrome"
BMGC_DS17988,BMG_DS068551,cerebral creatine deficiency syndrome
BMGC_DS17989,BMG_DS068552,COVID-19 pneumonia | Pneumonia caused by 2019 novel coronavirus | Pneumonia caused by 2019-nCoV | Pneumonia caused by SARS-CoV-2 | Pneumonia caused by severe acute respiratory syndrome coronavirus 2 | Pneumonia caused by severe acute respiratory syndrome coronavirus 2 (disorder)
BMGC_DS17990,BMG_DS068772,Laminopathies | laminopathy
BMGC_DS17991,BMG_DS068773,Cryptogenic Ischemic Stroke | Ischemic Stroke
BMGC_DS17992,BMG_DS068774,Hemorrhagic Stroke | Intracerebral Hemorrhagic Stroke
BMGC_DS17993,BMG_DS068781,"Respiratory Distress Syndrome | Respiratory Distress Syndrome, Pediatric"
BMGC_DS17994,BMG_DS068792,Ischemic Stroke | Wake-up Stroke
BMGC_DS17995,BMG_DS068793,Acute Ischemic Stroke | Ischemic Stroke
BMGC_DS17996,BMG_DS068795,Hemorrhagic Stroke | Subarachnoid Hemorrhagic Stroke
BMGC_DS17997,BMG_DS068805,Olfaction Disorders | Smell Dysfunction
BMGC_DS17998,BMG_DS068814,Taste Disorders | Taste Dysfunction
BMGC_DS17999,BMG_DS068815,Pityriasis Folliculitis | Tinea Versicolor
BMGC_DS18000,BMG_DS068819,SILVER-RUSSELL SYNDROME 1 | Silver-Russell syndrome 1
BMGC_DS18001,BMG_DS068822,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | intellectual disability, X-linked 102"
BMGC_DS18002,BMG_DS068823,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE | intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type"
BMGC_DS18003,BMG_DS068824,"WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED | Wieacker-Wolff syndrome, female-restricted | female-restricted Wieacker-Wolff syndrome"
BMGC_DS18004,BMG_DS068825,"HOLOPROSENCEPHALY 13, X-LINKED | Holoprosencephaly 13, X-linked | holoprosencephaly 13, X-linked"
BMGC_DS18005,BMG_DS068826,microform holoprosencephaly
BMGC_DS18006,BMG_DS068827,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS | developmental and epileptic encephalopathy 85 | developmental and epileptic encephalopathy, 85, with or without midline brain defects"
BMGC_DS18007,BMG_DS068828,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr | congenital disorder of glycosylation, type IIr"
BMGC_DS18008,BMG_DS068829,"DIABETES MELLITUS, PERMANENT NEONATAL, 1 | permanent neonatal diabetes mellitus | permanent neonatal diabetes mellitus 1"
BMGC_DS18009,BMG_DS068831,"intellectual disability, autosomal dominant 9"
BMGC_DS18010,BMG_DS068832,HAO-FOUNTAIN SYNDROME | Hao-Fountain syndrome
BMGC_DS18011,BMG_DS068833,"NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY | neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy"
BMGC_DS18012,BMG_DS068834,"SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 81 | spastic paraplegia 81, autosomal recessive"
BMGC_DS18013,BMG_DS068835,"SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 82 | spastic paraplegia 82, autosomal recessive"
BMGC_DS18014,BMG_DS068836,CEBALID SYNDROME | CEBALID syndrome
BMGC_DS18015,BMG_DS068837,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 | mitochondrial complex 3 deficiency, nuclear type 10"
BMGC_DS18016,BMG_DS068838,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 | mitochondrial complex 1 deficiency, nuclear type 34 | nuclear type mitochondrial complex I deficiency 34"
BMGC_DS18017,BMG_DS068839,"DEAFNESS, AUTOSOMAL DOMINANT 75 | autosomal dominant nonsyndromic deafness 75 | hearing loss, autosomal dominant 75"
BMGC_DS18018,BMG_DS068840,"congenital heart defects, multiple types, 7"
BMGC_DS18019,BMG_DS068841,"CILIARY DYSKINESIA, PRIMARY, 44 | ciliary dyskinesia, primary, 44 | primary ciliary dyskinesia 44"
BMGC_DS18020,BMG_DS068842,LONG QT SYNDROME 16 | long QT syndrome 16
BMGC_DS18021,BMG_DS068843,"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 6 | ventricular tachycardia, catecholaminergic polymorphic 6"
BMGC_DS18022,BMG_DS068844,IMAGAWA-MATSUMOTO SYNDROME | Imagawa-Matsumoto syndrome
BMGC_DS18023,BMG_DS068845,"DEAFNESS, AUTOSOMAL DOMINANT 76 | autosomal dominant nonsyndromic deafness 76 | hearing loss, autosomal dominant 76"
BMGC_DS18024,BMG_DS068846,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 | developmental and epileptic encephalopathy 84 | developmental and epileptic encephalopathy, 84"
BMGC_DS18025,BMG_DS068847,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62 | intellectual developmental disorder 62"
BMGC_DS18026,BMG_DS068848,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION | neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation"
BMGC_DS18027,BMG_DS068849,BECK-FAHRNER SYNDROME | Beck-Fahrner syndrome
BMGC_DS18028,BMG_DS068850,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 | autosomal recessive spinocerebellar ataxia 28 | spinocerebellar ataxia, autosomal recessive 28"
BMGC_DS18029,BMG_DS068851,"CILIARY DYSKINESIA, PRIMARY, 45 | ciliary dyskinesia, primary, 45 | primary ciliary dyskinesia 45"
BMGC_DS18030,BMG_DS068852,"RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL | respiratory papillomatosis, juvenile recurrent, congenital"
BMGC_DS18031,BMG_DS068853,SANDESTIG-STEFANOVA SYNDROME | Sandestig-Stefanova syndrome | sandestig-stefanova syndrome
BMGC_DS18032,BMG_DS068854,TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME | triokinase and FMN cyclase deficiency syndrome
BMGC_DS18033,BMG_DS068855,"T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT | T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"
BMGC_DS18034,BMG_DS068856,INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA | intellectual developmental disorder with poor growth and with or without seizures or ataxia
BMGC_DS18035,BMG_DS068857,"PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome | pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"
BMGC_DS18036,BMG_DS068858,MITOCHONDRIAL DNA DEPLETION SYNDROME 18 | mitochondrial DNA depletion syndrome 18
BMGC_DS18037,BMG_DS068859,"CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT | chromosome 1p36.33 duplication syndrome | chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant"
BMGC_DS18038,BMG_DS068860,GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME | genitourinary and/or brain malformation syndrome
BMGC_DS18039,BMG_DS068861,RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES | rhizomelic limb shortening with dysmorphic features
BMGC_DS18040,BMG_DS068862,"CONGENITAL MYOPATHY 9A | congenital myopathy 9A | myopathy, congenital, with respiratory insufficiency and bone fractures"
BMGC_DS18041,BMG_DS068863,"CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS | congenital myopathy 9B | myopathy, congenital proximal, with minicore lesions"
BMGC_DS18042,BMG_DS068864,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE | basal ganglia calcification, idiopathic, 8, autosomal recessive"
BMGC_DS18043,BMG_DS068865,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY | intellectual developmental disorder, autosomal dominant 63, with macrocephaly"
BMGC_DS18044,BMG_DS068866,RETINITIS PIGMENTOSA 88 | retinitis pigmentosa 88
BMGC_DS18045,BMG_DS068867,"MYOPIA 27, AUTOSOMAL DOMINANT | myopia 27"
BMGC_DS18046,BMG_DS068868,"NABAIS SA-DE VRIES SYNDROME, TYPE 1 | neurodevelopmental disorder with microcephaly and dysmorphic facies"
BMGC_DS18047,BMG_DS068869,"NABAIS SA-DE VRIES SYNDROME, TYPE 2 | neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies"
BMGC_DS18048,BMG_DS068870,"autism, susceptibility to, 20"
BMGC_DS18049,BMG_DS068871,Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect | Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) | QRSL1-related combined oxidative phosphorylation defect | combined oxidative phosphorylation deficiency 40
BMGC_DS18050,BMG_DS068872,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 | combined oxidative phosphorylation deficiency 41
BMGC_DS18051,BMG_DS068873,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 | combined oxidative phosphorylation deficiency 42
BMGC_DS18052,BMG_DS068874,ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4 | alopecia-intellectual disability syndrome 4 | alopecia-mental retardation syndrome 4
BMGC_DS18053,BMG_DS068875,HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA | hypogonadotropic hypogonadism 25 with anosmia
BMGC_DS18054,BMG_DS068876,"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 | vertebral, cardiac, renal, and limb defects syndrome 3"
BMGC_DS18055,BMG_DS068877,DIETS-JONGMANS SYNDROME | Diets-Jongmans syndrome
BMGC_DS18056,BMG_DS068878,IMMUNODEFICIENCY 66 | immunodeficiency 66
BMGC_DS18057,BMG_DS068879,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 | muscular dystrophy, limb-girdle, autosomal recessive 26"
BMGC_DS18058,BMG_DS068880,BONE MARROW FAILURE SYNDROME 6 | bone marrow failure syndrome 6
BMGC_DS18059,BMG_DS068881,HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA | hypervalinemia and hyperleucine-isoleucinemia
BMGC_DS18060,BMG_DS068882,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 | combined oxidative phosphorylation deficiency 43
BMGC_DS18061,BMG_DS068883,autoinflammation with episodic fever and lymphadenopathy
BMGC_DS18062,BMG_DS068884,ANAUXETIC DYSPLASIA 3 | anauxetic dysplasia 3
BMGC_DS18063,BMG_DS068885,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 | combined oxidative phosphorylation deficiency 44
BMGC_DS18064,BMG_DS068886,"DIABETES MELLITUS, PERMANENT NEONATAL, 2 | diabetes mellitus, permanent neonatal 2"
BMGC_DS18065,BMG_DS068887,"DIABETES MELLITUS, PERMANENT NEONATAL, 3 | diabetes mellitus, permanent neonatal 3"
BMGC_DS18066,BMG_DS068888,"DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 2 | developmental delay, epilepsy, and neonatal diabetes 2"
BMGC_DS18067,BMG_DS068889,"DIABETES MELLITUS, PERMANENT NEONATAL, 4 | diabetes mellitus, permanent neonatal 4"
BMGC_DS18068,BMG_DS068890,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES | neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
BMGC_DS18069,BMG_DS068891,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES | neurodevelopmental disorder with hypotonia, microcephaly, and seizures"
BMGC_DS18070,BMG_DS068892,RETINAL DYSTROPHY WITH LEUKODYSTROPHY | retinal dystrophy with leukodystrophy
BMGC_DS18071,BMG_DS068893,"TREMOR, HEREDITARY ESSENTIAL, 6 | essential tremor 6 | tremor, hereditary essential, 6"
BMGC_DS18072,BMG_DS068894,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE | neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline"
BMGC_DS18073,BMG_DS068895,"SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE | skeletal dysplasia, mild, with joint laxity and advanced bone age"
BMGC_DS18074,BMG_DS068896,NIZON-ISIDOR SYNDROME | Nizon-Isidor syndrome
BMGC_DS18075,BMG_DS068897,LISSENCEPHALY 10 | lissencephaly 10
BMGC_DS18076,BMG_DS068898,"SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS | seizures, early-onset, with neurodegeneration and brain calcifications"
BMGC_DS18077,BMG_DS068899,"EPILEPSY, PROGRESSIVE MYOCLONIC, 11 | epilepsy, progressive myoclonic, 11"
BMGC_DS18078,BMG_DS068900,"LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME | leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome"
BMGC_DS18079,BMG_DS068901,"LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME | leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome"
BMGC_DS18080,BMG_DS068902,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures"
BMGC_DS18081,BMG_DS068903,"GLAUCOMA, PRIMARY CLOSED-ANGLE | glaucoma, primary closed-angle"
BMGC_DS18082,BMG_DS068904,Deficiency of galactose mutarotase | Deficiency of galactose mutarotase (disorder) | GALM (galactose mutarotase) deficiency | Galactosaemia type 4 | Galactosemia type 4 | galactosemia 4
BMGC_DS18083,BMG_DS068905,"HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2 | hypoparathyroidism, familial isolated, 2"
BMGC_DS18084,BMG_DS068906,"proteinuria, chronic benign"
BMGC_DS18085,BMG_DS068907,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt | congenital disorder of glycosylation, type iit"
BMGC_DS18086,BMG_DS068908,PSEUDO-TORCH SYNDROME 3 | pseudo-TORCH syndrome 3
BMGC_DS18087,BMG_DS068910,"Liberfarb syndrome | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder)"
BMGC_DS18088,BMG_DS068911,NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY | neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
BMGC_DS18089,BMG_DS068912,"MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME | microcephaly, developmental delay, and brittle hair syndrome"
BMGC_DS18090,BMG_DS068913,"46,XX SEX REVERSAL 5 | 46,XX sex reversal 5 | 46,xx sex reversal 5"
BMGC_DS18091,BMG_DS068914,SILVER-RUSSELL SYNDROME 2 | silver-russell syndrome 2
BMGC_DS18092,BMG_DS068915,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES | intellectual developmental disorder with autistic features and language delay, with or without seizures"
BMGC_DS18093,BMG_DS068916,SILVER-RUSSELL SYNDROME 4 | silver-russell syndrome 4
BMGC_DS18094,BMG_DS068917,SILVER-RUSSELL SYNDROME 5 | Silver-Russell syndrome 5
BMGC_DS18095,BMG_DS068918,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 | developmental and epileptic encephalopathy 86 | developmental and epileptic encephalopathy, 86"
BMGC_DS18096,BMG_DS068919,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 8 | autosomal recessive distal hereditary motor neuronopathy 8 | neuronopathy, distal hereditary motor, autosomal recessive 8"
BMGC_DS18097,BMG_DS068920,FANCONI RENOTUBULAR SYNDROME 5 | Fanconi renotubular syndrome 5
BMGC_DS18098,BMG_DS068921,"NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME | neurodevelopmental, jaw, eye, and digital syndrome"
BMGC_DS18099,BMG_DS068922,"DEAFNESS, AUTOSOMAL DOMINANT 77 | autosomal dominant nonsyndromic deafness 77 | hearing loss, autosomal dominant 77"
BMGC_DS18100,BMG_DS068923,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 | developmental and epileptic encephalopathy 87 | developmental and epileptic encephalopathy, 87"
BMGC_DS18101,BMG_DS068924,NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with language impairment and behavioral abnormalities
BMGC_DS18102,BMG_DS068925,PERIVENTRICULAR NODULAR HETEROTOPIA 9 | periventricular nodular heterotopia 9
BMGC_DS18103,BMG_DS068926,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 | arrhythmogenic right ventricular dysplasia 14 | arrhythmogenic right ventricular dysplasia, familial, 14"
BMGC_DS18104,BMG_DS068927,"NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES | neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities"
BMGC_DS18105,BMG_DS068928,"EPISODIC ATAXIA, TYPE 9 | episodic ataxia type 9 | episodic ataxia, type 9"
BMGC_DS18106,BMG_DS068929,"AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME | agenesis of corpus callosum, cardiac, ocular, and genital syndrome"
BMGC_DS18107,BMG_DS068930,"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 | autosomal recessive chronic granulomatous disease 5 | granulomatous disease, chronic, autosomal recessive, 5"
BMGC_DS18108,BMG_DS068931,TREACHER COLLINS SYNDROME 4 | Treacher Collins syndrome 4
BMGC_DS18109,BMG_DS068932,oculopharyngodistal myopathy 2
BMGC_DS18110,BMG_DS068933,"HYPER-IgE SYNDROME 5, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | hyper-IgE recurrent infection syndrome 5, autosomal recessive"
BMGC_DS18111,BMG_DS068934,"HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY | heterotaxy, visceral, 9, autosomal, with male infertility"
BMGC_DS18112,BMG_DS068935,RETINITIS PIGMENTOSA 89 | retinitis pigmentosa 89
BMGC_DS18113,BMG_DS068936,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 | developmental and epileptic encephalopathy 88 | developmental and epileptic encephalopathy, 88"
BMGC_DS18114,BMG_DS068937,Mitchell syndrome
BMGC_DS18115,BMG_DS068938,"Spondylometaphyseal dysplasia, corneal dystrophy syndrome | Spondylometaphyseal dysplasia, corneal dystrophy syndrome (disorder) | spondylometaphyseal dysplasia with corneal dystrophy"
BMGC_DS18116,BMG_DS068968,"CHROMOSOME 1p36.33 DELETION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL RECESSIVE | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome"
BMGC_DS18117,BMG_DS068969,"DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 1 | developmental delay, epilepsy, and neonatal diabetes 1"
BMGC_DS18118,BMG_DS068972,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder) | autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
BMGC_DS18119,BMG_DS069019,acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
BMGC_DS18120,BMG_DS069445,Pelizaeus Merzbacher like disease due to AIMP1 mutation | Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder)
BMGC_DS18121,BMG_DS069651,CAMAK - Cerebro-oculo-facio-skeletal syndrome | CAMFAK - Cerebro-oculo-facio-skeletal syndrome | COFS - Cerebro-oculo-facio-skeletal syndrome | COFS syndrome | Cerebro-oculo-facio-skeletal syndrome | Cerebro-oculo-facio-skeletal syndrome (disorder) | Pena-Shokeir syndrome type 2
BMGC_DS18122,BMG_DS069652,FG syndrome 1
BMGC_DS18123,BMG_DS069653,mismatch repair cancer syndrome 1
BMGC_DS18124,BMG_DS069656,Mandibuloacral dysostosis co-occurrent with type A lipodystrophy | Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) | Mandibuloacral dysplasia with type A lipodystrophy | mandibuloacral dysplasia with type A lipodystrophy
BMGC_DS18125,BMG_DS069659,"LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | X-linked lymphoproliferative disease due to SH2D1A deficiency"
BMGC_DS18126,BMG_DS069660,"Familial Mediterranean Fever | Familial Mediterranean Fever, Autosomal Recessive"
BMGC_DS18127,BMG_DS069661,Sugarman brachydactyly
BMGC_DS18128,BMG_DS069662,X-linked scapuloperoneal muscular dystrophy | X-linked scapuloperoneal muscular dystrophy (disorder) | X-linked scapuloperoneal syndrome
BMGC_DS18129,BMG_DS069664,"Brachyolmia Type 2 | brachyolmia, Maroteaux type"
BMGC_DS18130,BMG_DS069665,gallbladder papillary carcinoma
BMGC_DS18131,BMG_DS069666,FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 | facioscapulohumeral muscular dystrophy 1
BMGC_DS18132,BMG_DS069667,"IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME | IFAP syndrome 1, with or without BRESHECK syndrome"
BMGC_DS18133,BMG_DS069668,Periventricular heterotopia
BMGC_DS18134,BMG_DS069669,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1 | autosomal recessive Robinow syndrome"
BMGC_DS18135,BMG_DS069670,"MYOPATHY, DISTAL, WITH RIMMED VACUOLES | distal myopathy with rimmed vacuoles | myopathy, distal, with rimmed vacuoles"
BMGC_DS18136,BMG_DS069671,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 | cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | mitochondrial complex IV deficiency nuclear type 2"
BMGC_DS18137,BMG_DS069672,"RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS | renal tubular acidosis, distal, 3, with or without sensorineural hearing loss"
BMGC_DS18138,BMG_DS069680,pulmonary alveolar proteinosis
BMGC_DS18139,BMG_DS069683,"17q11 deletion syndrome | 17q11 deletion syndrome (disorder) | Chromosome 17q11.2 deletion syndrome | Monosomy 17q11 | Neurofibromatosis type 1 microdeletion syndrome | chromosome 17q11.2 deletion syndrome, 1.4Mb"
BMGC_DS18140,BMG_DS069688,parapharyngeal meningioma
BMGC_DS18141,BMG_DS069704,OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES | optic atrophy 13 with retinal and foveal abnormalities
BMGC_DS18142,BMG_DS069705,"MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 2 | microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2"
BMGC_DS18143,BMG_DS069706,"ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE | arthrogryposis multiplex congenita 2, neurogenic type"
BMGC_DS18144,BMG_DS069707,COACH SYNDROME 1 | COACH syndrome 1
BMGC_DS18145,BMG_DS069708,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 | mitochondrial complex IV deficiency nuclear type 1 | mitochondrial complex IV deficiency, nuclear type 1"
BMGC_DS18146,BMG_DS069709,TYPE 1 DIABETES MELLITUS 1 | type 1 diabetes mellitus 1
BMGC_DS18147,BMG_DS069710,PALLISTER-HALL-LIKE SYNDROME
BMGC_DS18148,BMG_DS069711,"GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE | growth hormone insensitivity syndrome with immune dysregulation 1 | growth hormone insensitivity with immune dysregulation 1, autosomal recessive"
BMGC_DS18149,BMG_DS069712,"IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED | X-Linked immunodeficiency 74 | immunodeficiency 74, COVID-19-related, X-linked"
BMGC_DS18150,BMG_DS069713,"VEXAS syndrome | Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome | Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder)"
BMGC_DS18151,BMG_DS069714,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1 | Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1"
BMGC_DS18152,BMG_DS069716,"46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"
BMGC_DS18153,BMG_DS069718,"RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | renal tubular acidosis, distal, 4, with hemolytic anemia"
BMGC_DS18154,BMG_DS069719,RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1 | Rajab interstitial lung disease with brain calcifications 1
BMGC_DS18155,BMG_DS069720,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | frontotemporal dementia and/or amyotrophic lateral sclerosis 6
BMGC_DS18156,BMG_DS069721,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 25, FORMERLY | Xia-Gibbs Syndrome"
BMGC_DS18157,BMG_DS069722,ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 | arthrogryposis multiplex congenita 5 | arthrogryposis multiplex congenita-5
BMGC_DS18158,BMG_DS069723,SULEIMAN-EL-HATTAB SYNDROME | Suleiman-El-Hattab syndrome
BMGC_DS18159,BMG_DS069724,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 | combined oxidative phosphorylation deficiency 45
BMGC_DS18160,BMG_DS069725,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 | combined oxidative phosphorylation deficiency 46
BMGC_DS18161,BMG_DS069726,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 | combined oxidative phosphorylation deficiency 47
BMGC_DS18162,BMG_DS069727,IMMUNODEFICIENCY 69 | immunodeficiency 69
BMGC_DS18163,BMG_DS069728,IMMUNODEFICIENCY 70 | immunodeficiency 70
BMGC_DS18164,BMG_DS069729,"CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE | cone-rod synaptic disorder syndrome, congenital nonprogressive"
BMGC_DS18165,BMG_DS069730,TOLCHIN-LE CAIGNEC SYNDROME | Tolchin-Le Caignec syndrome
BMGC_DS18166,BMG_DS069731,MITOCHONDRIAL DNA DEPLETION SYNDROME 19 | mitochondrial DNA depletion syndrome 19
BMGC_DS18167,BMG_DS069732,"SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY | neurodegeneration, infantile-onset, biotin-responsive"
BMGC_DS18168,BMG_DS069733,LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME | Li-Ghorbani-Weisz-Hubshman syndrome
BMGC_DS18169,BMG_DS069734,"MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES | congenital myopathy 17 | myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies"
BMGC_DS18170,BMG_DS069735,OPTIC ATROPHY 12 | optic atrophy 12
BMGC_DS18171,BMG_DS069736,IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION | immunodeficiency 72 | immunodeficiency 72 with autoinflammation
BMGC_DS18172,BMG_DS069737,"GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT | growth hormone insensitivity syndrome with immune dysregulation 2 | growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant"
BMGC_DS18173,BMG_DS069738,IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA | immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
BMGC_DS18174,BMG_DS069739,IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA | immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
BMGC_DS18175,BMG_DS069740,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 | muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | muscular dystrophy-dystroglycanopathy type B15"
BMGC_DS18176,BMG_DS069741,"IMMUNE DYSREGULATION AND SYSTEMIC HYPERINFLAMMATION SYNDROME | hemophagocytic lymphohistiocytosis, familial, 6"
BMGC_DS18177,BMG_DS069742,"AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA | autoinflammation, immune dysregulation, and eosinophilia"
BMGC_DS18178,BMG_DS069743,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY | intellectual developmental disorder with seizures and language delay
BMGC_DS18179,BMG_DS069744,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 | mitochondrial complex 1 deficiency, nuclear type 35 | nuclear type mitochondrial complex I deficiency 35"
BMGC_DS18180,BMG_DS069745,DEEAH SYNDROME | deeah syndrome
BMGC_DS18181,BMG_DS069746,"NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA | neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia"
BMGC_DS18182,BMG_DS069747,RETINITIS PIGMENTOSA 90 | retinitis pigmentosa 90
BMGC_DS18183,BMG_DS069748,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 8 | oocyte maturation defect 8
BMGC_DS18184,BMG_DS069749,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9 | oocyte maturation defect 9
BMGC_DS18185,BMG_DS069750,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 | combined oxidative phosphorylation deficiency 48
BMGC_DS18186,BMG_DS069751,RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 | Rajab interstitial lung disease with brain calcifications 2
BMGC_DS18187,BMG_DS069752,IFAP SYNDROME 2 | IFAP syndrome 2
BMGC_DS18188,BMG_DS069753,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 | combined oxidative phosphorylation deficiency 49
BMGC_DS18189,BMG_DS069754,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 | combined oxidative phosphorylation deficiency 50
BMGC_DS18190,BMG_DS069755,NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES | neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
BMGC_DS18191,BMG_DS069756,"SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 83 | spastic paraplegia 83, autosomal recessive"
BMGC_DS18192,BMG_DS069757,"COENZYME Q10 DEFICIENCY, PRIMARY, 9 | coenzyme q10 deficiency, primary, 9 | primary coenzyme Q10 deficiency 9"
BMGC_DS18193,BMG_DS069758,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES | intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies"
BMGC_DS18194,BMG_DS069759,VISSERS-BODMER SYNDROME | Vissers-Bodmer syndrome
BMGC_DS18195,BMG_DS069760,"MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY | myopathy, epilepsy, and progressive cerebral atrophy"
BMGC_DS18196,BMG_DS069761,MYOFIBRILLAR MYOPATHY 10 | myofibrillar myopathy 10
BMGC_DS18197,BMG_DS069762,MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 | monosomy 7 myelodysplasia and leukemia syndrome 2
BMGC_DS18198,BMG_DS069763,"SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE | spinal muscular atrophy, infantile, James type"
BMGC_DS18199,BMG_DS069764,SPERMATOGENIC FAILURE 44 | spermatogenic failure 44
BMGC_DS18200,BMG_DS069765,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 | mitochondrial complex 4 deficiency, nuclear type 3 | mitochondrial complex IV deficiency nuclear type 3"
BMGC_DS18201,BMG_DS069766,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 | mitochondrial complex 4 deficiency, nuclear type 4 | mitochondrial complex IV deficiency nuclear type 4"
BMGC_DS18202,BMG_DS069767,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 | mitochondrial complex 4 deficiency, nuclear type 7 | mitochondrial complex IV deficiency nuclear type 7"
BMGC_DS18203,BMG_DS069768,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 | mitochondrial complex 4 deficiency, nuclear type 8 | mitochondrial complex IV deficiency nuclear type 8"
BMGC_DS18204,BMG_DS069769,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 | mitochondrial complex 4 deficiency, nuclear type 10 | mitochondrial complex IV deficiency nuclear type 10"
BMGC_DS18205,BMG_DS069770,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 | mitochondrial complex 4 deficiency, nuclear type 11 | mitochondrial complex IV deficiency nuclear type 11"
BMGC_DS18206,BMG_DS069771,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 | mitochondrial complex 4 deficiency, nuclear type 12 | mitochondrial complex IV deficiency nuclear type 12"
BMGC_DS18207,BMG_DS069772,NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES | neurodevelopmental disorder with speech impairment and dysmorphic facies
BMGC_DS18208,BMG_DS069773,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 | combined oxidative phosphorylation deficiency 51
BMGC_DS18209,BMG_DS069774,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 | mitochondrial complex 4 deficiency, nuclear type 14 | mitochondrial complex IV deficiency nuclear type 14"
BMGC_DS18210,BMG_DS069775,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 | mitochondrial complex 4 deficiency, nuclear type 15 | mitochondrial complex IV deficiency nuclear type 15"
BMGC_DS18211,BMG_DS069776,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 | mitochondrial complex 4 deficiency, nuclear type 16 | mitochondrial complex IV deficiency nuclear type 16"
BMGC_DS18212,BMG_DS069777,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 | mitochondrial complex 4 deficiency, nuclear type 17 | mitochondrial complex IV deficiency nuclear type 17"
BMGC_DS18213,BMG_DS069778,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 | mitochondrial complex 4 deficiency, nuclear type 18 | mitochondrial complex IV deficiency nuclear type 18"
BMGC_DS18214,BMG_DS069779,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 | mitochondrial complex 4 deficiency, nuclear type 19 | mitochondrial complex IV deficiency nuclear type 19"
BMGC_DS18215,BMG_DS069780,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 | mitochondrial complex 4 deficiency, nuclear type 20 | mitochondrial complex IV deficiency nuclear type 20"
BMGC_DS18216,BMG_DS069781,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 | mitochondrial complex 4 deficiency, nuclear type 21 | mitochondrial complex IV deficiency nuclear type 21"
BMGC_DS18217,BMG_DS069782,"LEUKODYSTROPHY, HYPOMYELINATING, 20 | hypomyelinating leukodystrophy 20 | leukodystrophy, hypomyelinating, 20"
BMGC_DS18218,BMG_DS069783,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY | neurodevelopmental disorder with seizures and brain atrophy
BMGC_DS18219,BMG_DS069784,"VITAMIN D-DEPENDENT RICKETS, TYPE 3 | vitamin D-dependent rickets, type 3"
BMGC_DS18220,BMG_DS069785,"CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY | cleft palate, proliferative retinopathy, and developmental delay"
BMGC_DS18221,BMG_DS069786,"Bachmann Bupp syndrome | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder) | Ornithine decarboxylase deficiency | neurodevelopmental disorder with alopecia and brain abnormalities"
BMGC_DS18222,BMG_DS069787,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY | neurodevelopmental disorder with microcephaly, seizures, and brain atrophy"
BMGC_DS18223,BMG_DS069788,INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 | inflammatory bowel disease 30
BMGC_DS18224,BMG_DS069789,KILQUIST SYNDROME | Kilquist syndrome
BMGC_DS18225,BMG_DS069790,"DEAFNESS, AUTOSOMAL DOMINANT 78 | autosomal dominant nonsyndromic deafness 78 | hearing loss, autosomal dominant 78"
BMGC_DS18226,BMG_DS069791,"MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1 | microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1"
BMGC_DS18227,BMG_DS069792,DELPIRE-MCNEILL SYNDROME | Delpire-McNeill syndrome
BMGC_DS18228,BMG_DS069793,"DEAFNESS, AUTOSOMAL DOMINANT 79 | autosomal dominant nonsyndromic deafness 79 | hearing loss, autosomal dominant 79"
BMGC_DS18229,BMG_DS069794,NOONAN SYNDROME 13 | Noonan syndrome 13
BMGC_DS18230,BMG_DS069795,"DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY | developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy"
BMGC_DS18231,BMG_DS069796,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES | neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities"
BMGC_DS18232,BMG_DS069797,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES | neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities"
BMGC_DS18233,BMG_DS069798,"DEAFNESS, AUTOSOMAL RECESSIVE 116 | autosomal recessive nonsyndromic deafness 116 | hearing loss, autosomal recessive 116"
BMGC_DS18234,BMG_DS069799,SPERMATOGENIC FAILURE 45 | spermatogenic failure 45
BMGC_DS18235,BMG_DS069800,SPERMATOGENIC FAILURE 46 | spermatogenic failure 46
BMGC_DS18236,BMG_DS069801,mismatch repair cancer syndrome 2
BMGC_DS18237,BMG_DS069802,mismatch repair cancer syndrome 3
BMGC_DS18238,BMG_DS069803,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY | intellectual developmental disorder with speech delay and axonal peripheral neuropathy
BMGC_DS18239,BMG_DS069804,mismatch repair cancer syndrome 4
BMGC_DS18240,BMG_DS069805,SPERMATOGENIC FAILURE 47 | spermatogenic failure 47
BMGC_DS18241,BMG_DS069806,"NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES | neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities"
BMGC_DS18242,BMG_DS069807,SPERMATOGENIC FAILURE 48 | spermatogenic failure 48
BMGC_DS18243,BMG_DS069808,"ARTHROGRYPOSIS, DISTAL, TYPE 1C | arthrogryposis, distal, type 1C | distal arthrogryposis type 1C"
BMGC_DS18244,BMG_DS069809,COACH SYNDROME 2 | COACH syndrome 2
BMGC_DS18245,BMG_DS069810,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13 | autosomal dominant distal hereditary motor neuronopathy 13 | neuronopathy, distal hereditary motor, type 5C"
BMGC_DS18246,BMG_DS069811,COACH SYNDROME 3 | COACH syndrome 3
BMGC_DS18247,BMG_DS069812,COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 | combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
BMGC_DS18248,BMG_DS069813,COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 | combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
BMGC_DS18249,BMG_DS069814,"NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities"
BMGC_DS18250,BMG_DS069815,VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES | vertebral hypersegmentation and orofacial anomalies
BMGC_DS18251,BMG_DS069816,CARDIOFACIONEURODEVELOPMENTAL SYNDROME | cardiofacioneurodevelopmental syndrome
BMGC_DS18252,BMG_DS069817,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 | developmental and epileptic encephalopathy 89
BMGC_DS18253,BMG_DS069818,KAYA-BARAKAT-MASSON SYNDROME | Kaya-Barakat-Masson syndrome
BMGC_DS18254,BMG_DS069819,IMMUNODEFICIENCY 75 WITH LYMPHOPROLIFERATION | immunodeficiency 75
BMGC_DS18255,BMG_DS069820,MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME | mandibuloacral dysplasia progeroid syndrome
BMGC_DS18256,BMG_DS069821,THROMBOCYTOPENIA 7 | thrombocytopenia 7
BMGC_DS18257,BMG_DS069822,"OSTEOGENESIS IMPERFECTA, TYPE XXI | osteogenesis imperfecta type 21 | osteogenesis imperfecta, type 21"
BMGC_DS18258,BMG_DS069823,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 | frontotemporal dementia and/or amyotrophic lateral sclerosis 8
BMGC_DS18259,BMG_DS069824,AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | amyotrophic lateral sclerosis type 26
BMGC_DS18260,BMG_DS069825,RITSCHER-SCHINZEL SYNDROME 3 | Ritscher-Schinzel syndrome 3
BMGC_DS18261,BMG_DS069826,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 | frontotemporal dementia and/or amyotrophic lateral sclerosis 5
BMGC_DS18262,BMG_DS069827,CARDIOACROFACIAL DYSPLASIA 1 | cardioacrofacial dysplasia 1
BMGC_DS18263,BMG_DS069828,CARDIOACROFACIAL DYSPLASIA 2 | cardioacrofacial dysplasia 2
BMGC_DS18264,BMG_DS069829,SPERMATOGENIC FAILURE 49 | spermatogenic failure 49
BMGC_DS18265,BMG_DS069830,SPERMATOGENIC FAILURE 50 | spermatogenic failure 50 | spermatogenic failures 50
BMGC_DS18266,BMG_DS069831,PREMATURE OVARIAN FAILURE 17 | premature ovarian failure 17 | primary ovarian insufficiency 17
BMGC_DS18267,BMG_DS069832,CHROMOSOME 13q33-q34 DELETION SYNDROME | chromosome 13q33-q34 deletion syndrome
BMGC_DS18268,BMG_DS069833,LESSEL-KREIENKAMP SYNDROME | Lessel-Kreienkamp syndrome
BMGC_DS18269,BMG_DS069834,INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES | intellectual developmental disorder with paroxysmal dyskinesia or seizures
BMGC_DS18270,BMG_DS069836,"AMED syndrome, digenic | AMeD (aplastic anaemia, intellectual disability, dwarfism) syndrome | AMeD (aplastic anemia, intellectual disability, dwarfism) syndrome | AMeD syndrome | Aplastic anaemia, intellectual disability, dwarfism syndrome | Aplastic anemia, intellectual disability, dwarfism syndrome | Aplastic anemia, intellectual disability, dwarfism syndrome (disorder)"
BMGC_DS18271,BMG_DS069837,"NEPHROTIC SYNDROME, TYPE 22 | nephrotic syndrome type 22 | nephrotic syndrome, type 22"
BMGC_DS18272,BMG_DS069838,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY | neurodevelopmental disorder with or without early-onset generalized epilepsy
BMGC_DS18273,BMG_DS069839,CARPAL TUNNEL SYNDROME 2 | carpal tunnel syndrome 2
BMGC_DS18274,BMG_DS069840,OCA8 - oculocutaneous albinism type 8 | Oculocutaneous albinism type 8 | Oculocutaneous albinism type 8 (disorder) | oculocutaneous albinism type 8
BMGC_DS18275,BMG_DS069841,"MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 | mitochondrial complex 2 deficiency, nuclear type 2"
BMGC_DS18276,BMG_DS069842,"MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 | mitochondrial complex 2 deficiency, nuclear type 3"
BMGC_DS18277,BMG_DS069843,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 | mitochondrial complex 1 deficiency, nuclear type 36"
BMGC_DS18278,BMG_DS069844,HERMANSKY-PUDLAK SYNDROME 11 | Hermansky-Pudlak syndrome 11
BMGC_DS18279,BMG_DS069845,"DEAFNESS, AUTOSOMAL RECESSIVE 117 | hearing loss, autosomal recessive 117"
BMGC_DS18280,BMG_DS069846,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10 | oocyte maturation defect 10
BMGC_DS18281,BMG_DS069861,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 | muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | muscular dystrophy-dystroglycanopathy type B1"
BMGC_DS18282,BMG_DS069995,Alpha-N-acetylgalactosaminidase deficiency type 3 | Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 3 | Schindler disease type 3 | alpha-N-acetylgalactosaminidase deficiency type 3
BMGC_DS18283,BMG_DS070023,Contact dermatitis caused by poison oak | Contact dermatitis caused by urushiol from poison oak | Contact dermatitis caused by urushiol from poison oak (disorder)
BMGC_DS18284,BMG_DS070042,3q23 microdeletion syndrome | BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus | Blepharophimosis epicanthus inversus ptosis syndrome plus | Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | blepharophimosis-ptosis-epicanthus inversus syndrome plus
BMGC_DS18285,BMG_DS070045,"malignant hyperthermia, susceptibility to"
BMGC_DS18286,BMG_DS070052,Hirschsprung disease and intellectual disability due to 2q22 microdeletion | Hirschsprung disease and intellectual disability due to del(2)(q22) | Hirschsprung disease and intellectual disability due to monosomy 2q22 | Mowat-Wilson syndrome due to 2q22 microdeletion | Mowat-Wilson syndrome due to del(2)q(22) | Mowat-Wilson syndrome due to monosomy 2q22 | Mowat-Wilson syndrome due to monosomy 2q22 (disorder)
BMGC_DS18287,BMG_DS070067,Autosomal recessive epidermolytic ichthyosis | Autosomal recessive epidermolytic ichthyosis (disorder) | autosomal recessive epidermolytic ichthyosis
BMGC_DS18288,BMG_DS070144,complete cryptophthalmia
BMGC_DS18289,BMG_DS070240,6q16 deletion syndrome | 6q16 microdeletion syndrome | 6q16 microdeletion syndrome (disorder) | Obesity due to 6q16 deletion | Prader-Willi-like syndrome due to microdeletion 6q16
BMGC_DS18290,BMG_DS070248,Pfeiffer syndrome type 1 | Pfeiffer syndrome type 1 (disorder)
BMGC_DS18291,BMG_DS070249,Pelizaeus-Merzbacher disease in female carrier | Pelizaeus-Merzbacher disease in female carrier (disorder) | Pelizaeus-Merzbacher disease in female carriers
BMGC_DS18292,BMG_DS070250,Pfeiffer syndrome type 2 | Pfeiffer syndrome type 2 (disorder)
BMGC_DS18293,BMG_DS070251,Pfeiffer syndrome type 3 | Pfeiffer syndrome type 3 (disorder)
BMGC_DS18294,BMG_DS070281,Leydig cell hypoplasia due to complete LH receptor inactivation | Leydig cell hypoplasia due to complete LH resistance | Leydig cell hypoplasia due to complete luteinising hormone receptor inactivation | Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation | Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation (disorder)
BMGC_DS18295,BMG_DS070282,Leydig cell hypoplasia due to partial LH receptor inactivation | Leydig cell hypoplasia due to partial LH resistance | Leydig cell hypoplasia due to partial luteinising hormone receptor inactivation | Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation | Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation (disorder)
BMGC_DS18296,BMG_DS070333,Autosomal recessive Stickler syndrome | Stickler syndrome type 4 | Stickler syndrome type 4 (disorder)
BMGC_DS18297,BMG_DS070379,Null syndrome | PLP1 null syndrome | Pelizaeus-Merzbacher disease null syndrome | Pelizaeus-Merzbacher disease null syndrome (disorder) | null syndrome
BMGC_DS18298,BMG_DS070407,Enteric Neuropathy | Intestinal Pseudo-Obstruction
BMGC_DS18299,BMG_DS070408,Congenital short bowel syndrome | Congenital short bowel syndrome (disorder) | congenital short bowel syndrome
BMGC_DS18300,BMG_DS070410,interstitial lung disease
BMGC_DS18301,BMG_DS070412,"Diarrhea 3, Secretory Sodium, Congenital | congenital secretory sodium diarrhea 3"
BMGC_DS18302,BMG_DS070413,"DIARRHEA 8, SECRETORY SODIUM, CONGENITAL | congenital secretory sodium diarrhea 8"
BMGC_DS18303,BMG_DS070415,Micro syndrome | Warburg micro syndrome | Warburg micro syndrome (disorder)
BMGC_DS18304,BMG_DS070416,Congenital pontocerebellar hypoplasia type 1 | Congenital pontocerebellar hypoplasia type 1 (disorder) | Norman disease | PCH1 - pontocerebellar hypoplasia type 1 | Pontocerebellar hypoplasia type 1 | pontocerebellar hypoplasia type 1
BMGC_DS18305,BMG_DS070417,"BLEEDING DISORDER, PLATELET-TYPE, 16 | platelet-type bleeding disorder 16"
BMGC_DS18306,BMG_DS070418,"OTOFACIOCERVICAL SYNDROME 2, WITH T-CELL DEFICIENCY | otofaciocervical syndrome 2"
BMGC_DS18307,BMG_DS070420,Clonal Cytopenia of Undetermined Significance
BMGC_DS18308,BMG_DS070425,BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | blepharophimosis-impaired intellectual development syndrome
BMGC_DS18309,BMG_DS070426,HYPERTRIGLYCERIDEMIA 1 | hypertriglyceridemia 1
BMGC_DS18310,BMG_DS070427,COFFIN-SIRIS SYNDROME 12 | Coffin-Siris syndrome 12
BMGC_DS18311,BMG_DS070428,"DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE | dysostosis multiplex, Ain-Naz type"
BMGC_DS18312,BMG_DS070429,"INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE | inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive"
BMGC_DS18313,BMG_DS070430,Dentinogenesis Imperfecta | Dentinogenesis Imperfecta 1
BMGC_DS18314,BMG_DS070435,juvenile polyposis of infancy
BMGC_DS18315,BMG_DS070442,autosomal recessive severe congenital neutropenia
BMGC_DS18316,BMG_DS070444,Xq25 microduplication syndrome | Xq25 microduplication syndrome (disorder) | Xq25 microtriplication
BMGC_DS18317,BMG_DS070445,lacrimal gland squamous cell carcinoma
BMGC_DS18318,BMG_DS070503,Primary Vesicoureteral Reflux | Vesico-Ureteral Reflux
BMGC_DS18319,BMG_DS070504,VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME | ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
BMGC_DS18320,BMG_DS070505,HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY | hypotaurinemic retinal degeneration and cardiomyopathy
BMGC_DS18321,BMG_DS070506,VISCERAL MYOPATHY 1 | visceral myopathy 1
BMGC_DS18322,BMG_DS070507,ODONTOCHONDRODYSPLASIA 1 | odontochondrodysplasia 1
BMGC_DS18323,BMG_DS070508,WHIM SYNDROME 1 | WHIM syndrome 1
BMGC_DS18324,BMG_DS070509,MARTSOLF SYNDROME 1 | Martsolf syndrome 1
BMGC_DS18325,BMG_DS070510,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 1 | megacystis-microcolon-intestinal hypoperistalsis syndrome 1
BMGC_DS18326,BMG_DS070511,"MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED | multiple congenital anomalies-neurodevelopmental syndrome, X-linked"
BMGC_DS18327,BMG_DS070512,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 | developmental and epileptic encephalopathy 90 | developmental and epileptic encephalopathy, 90"
BMGC_DS18328,BMG_DS070513,"SPERMATOGENIC FAILURE, X-LINKED, 3 | X-linked spermatogenic failure 3 | spermatogenic failure, X-linked, 3"
BMGC_DS18329,BMG_DS070514,"AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS | azoospermia, obstructive, with nephrolithiasis"
BMGC_DS18330,BMG_DS070516,"HYPERCHOLANEMIA, FAMILIAL 1 | hypercholanemia, familial 1"
BMGC_DS18331,BMG_DS070517,OLMSTED SYNDROME 1 | Olmsted syndrome 1 | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
BMGC_DS18332,BMG_DS070518,"SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1"
BMGC_DS18333,BMG_DS070519,"LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS | leukoencephalopathy, progressive, infantile-onset, with or without deafness"
BMGC_DS18334,BMG_DS070520,IMMUNODEFICIENCY 76 | immunodeficiency 76
BMGC_DS18335,BMG_DS070521,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES | neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities"
BMGC_DS18336,BMG_DS070522,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 | proteasome-associated autoinflammatory syndrome 5 | proteosome-associated autoinflammatory syndrome 5
BMGC_DS18337,BMG_DS070523,SPERMATOGENIC FAILURE 51 | spermatogenic failure 51
BMGC_DS18338,BMG_DS070524,MYOFIBRILLAR MYOPATHY 11 | myofibrillar myopathy 11
BMGC_DS18339,BMG_DS070525,"MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT | microcephaly 26, primary, autosomal dominant"
BMGC_DS18340,BMG_DS070526,"MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT | microcephaly 27, primary, autosomal dominant"
BMGC_DS18341,BMG_DS070527,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 | proteasome-associated autoinflammatory syndrome 4 | proteosome-associated autoinflammatory syndrome 4
BMGC_DS18342,BMG_DS070528,"SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2"
BMGC_DS18343,BMG_DS070529,JOUBERT SYNDROME 37 | Joubert syndrome 37
BMGC_DS18344,BMG_DS070530,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 | intellectual developmental disorder, autosomal dominant 64"
BMGC_DS18345,BMG_DS070531,LI-CAMPEAU SYNDROME | Li-Campeau syndrome
BMGC_DS18346,BMG_DS070532,"EPILEPSY, PROGRESSIVE MYOCLONIC, 12 | epilepsy, progressive myoclonic, 12"
BMGC_DS18347,BMG_DS070533,NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS | neurofacioskeletal syndrome with or without renal agenesis
BMGC_DS18348,BMG_DS070534,"DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY | deafness, congenital, and adult-onset progressive leukoencephalopathy"
BMGC_DS18349,BMG_DS070536,"NEPHROTIC SYNDROME, TYPE 23 | nephrotic syndrome type 23 | nephrotic syndrome, type 23"
BMGC_DS18350,BMG_DS070537,SPERMATOGENIC FAILURE 52 | spermatogenic failure 52
BMGC_DS18351,BMG_DS070538,PREMATURE OVARIAN FAILURE 18 | premature ovarian failure 18 | primary ovarian insufficiency 18
BMGC_DS18352,BMG_DS070539,OLMSTED SYNDROME 2 | Olmsted syndrome 2
BMGC_DS18353,BMG_DS070540,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 | erythrokeratodermia variabilis et progressiva 7
BMGC_DS18354,BMG_DS070541,OCULOMOTOR-ABDUCENS SYNKINESIS | oculomotor-abducens synkinesis
BMGC_DS18355,BMG_DS070542,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7 | autosomal recessive distal hereditary motor neuronopathy 7 | neuronopathy, distal hereditary motor, autosomal recessive 7"
BMGC_DS18356,BMG_DS070543,"ENDOVE SYNDROME, LIMB-ONLY TYPE | ENDOVE syndrome, limb-only type"
BMGC_DS18357,BMG_DS070544,"ENDOVE SYNDROME, LIMB-BRAIN TYPE | ENDOVE syndrome, limb-brain type"
BMGC_DS18358,BMG_DS070545,"Autoimmune haemolytic anaemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) | Evans syndrome associated with primary immunodeficiency | TPPII (tripeptidyl-peptidase II) deficiency | TPPII-related immunodeficiency, autoimmunity and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease | TRIANGLE (TPPII-related immunodeficiency, autoimmunity, neurodevelopmental delay, impaired glycolysis, lysosomal expansion) disease | Tripeptidyl-peptidase II deficiency | immunodeficiency 78 with autoimmunity and developmental delay"
BMGC_DS18359,BMG_DS070546,SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY | sulfide quinone oxidoreductase deficiency
BMGC_DS18360,BMG_DS070547,IMMUNODEFICIENCY 77 | immunodeficiency 77
BMGC_DS18361,BMG_DS070548,"MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 | mitochondrial complex 2 deficiency, nuclear type 4"
BMGC_DS18362,BMG_DS070549,"BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA | blistering, acantholytic, of oral and laryngeal mucosa"
BMGC_DS18363,BMG_DS070550,"VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS | vertebral, cardiac, tracheoesophageal, renal, and limb defects"
BMGC_DS18364,BMG_DS070551,DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES | developmental delay with dysmorphic facies and dental anomalies
BMGC_DS18365,BMG_DS070552,DEN HOED-DE BOER-VOISIN SYNDROME | Kohlschutter-Tonz syndrome-like
BMGC_DS18366,BMG_DS070553,BILE ACID CONJUGATION DEFECT 1 | bile acid conjugation defect 1
BMGC_DS18367,BMG_DS070554,"SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY | short stature, oligodontia, dysmorphic facies, and motor delay"
BMGC_DS18368,BMG_DS070555,IMMUNODEFICIENCY 79 | immunodeficiency 79
BMGC_DS18369,BMG_DS070556,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES | neurodevelopmental disorder with or without autism or seizures
BMGC_DS18370,BMG_DS070557,GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES | global developmental delay with speech and behavioral abnormalities
BMGC_DS18371,BMG_DS070558,NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM | neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
BMGC_DS18372,BMG_DS070559,PREMATURE OVARIAN FAILURE 19 | premature ovarian failure 19 | primary ovarian insufficiency 19
BMGC_DS18373,BMG_DS070560,BARALLE-MACKEN SYNDROME | Baralle-Macken syndrome
BMGC_DS18374,BMG_DS070561,"HYPERCHOLANEMIA, FAMILIAL, 2 | hypercholanemia, familial, 2"
BMGC_DS18375,BMG_DS070562,SPERMATOGENIC FAILURE 53 | spermatogenic failure 53
BMGC_DS18376,BMG_DS070563,NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY | neurodegeneration with ataxia and late-onset optic atrophy
BMGC_DS18377,BMG_DS070564,"SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS | spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis"
BMGC_DS18378,BMG_DS070565,"NEPHROTIC SYNDROME, TYPE 24 | nephrotic syndrome, type 24"
BMGC_DS18379,BMG_DS070566,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES | neurodevelopmental disorder with dysmorphic facies and variable seizures
BMGC_DS18380,BMG_DS070567,GLANZMANN THROMBASTHENIA 2 | Glanzmann thrombasthenia 2
BMGC_DS18381,BMG_DS070568,ALZAHRANI-KUWAHARA SYNDROME | Alzahrani-Kuwahara syndrome
BMGC_DS18382,BMG_DS070569,ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES | odontochondrodysplasia 2 with hearing loss and diabetes
BMGC_DS18383,BMG_DS070570,"BLEEDING DISORDER, PLATELET-TYPE, 24 | bleeding disorder, platelet-type, 24"
BMGC_DS18384,BMG_DS070571,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37 | mitochondrial complex 1 deficiency, nuclear type 37"
BMGC_DS18385,BMG_DS070572,"CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome | CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome | CIMDAG syndrome | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome (disorder) | cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome"
BMGC_DS18386,BMG_DS070573,"DEAFNESS, AUTOSOMAL DOMINANT 80 | autosomal dominant nonsyndromic deafness 80 | hearing loss, autosomal dominant 80"
BMGC_DS18387,BMG_DS070574,"MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2 | microcephaly, epilepsy, and diabetes syndrome 2"
BMGC_DS18388,BMG_DS070575,PARKINSONISM WITH POLYNEUROPATHY | parkinsonism with polyneuropathy
BMGC_DS18389,BMG_DS070576,"IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE | immunodeficiency 14b, autosomal recessive"
BMGC_DS18390,BMG_DS070577,"NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA | neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia"
BMGC_DS18391,BMG_DS070578,DYSTONIA 30 | dystonia 30
BMGC_DS18392,BMG_DS070579,KINSSHIP SYNDROME | KINSSHIP syndrome
BMGC_DS18393,BMG_DS070580,"PONTOCEREBELLAR HYPOPLASIA, TYPE 14 | pontocerebellar hypoplasia type 14 | pontocerebellar hypoplasia, type 14"
BMGC_DS18394,BMG_DS070581,"PONTOCEREBELLAR HYPOPLASIA, TYPE 15 | pontocerebellar hypoplasia type 15 | pontocerebellar hypoplasia, type 15"
BMGC_DS18395,BMG_DS070582,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1E | pontocerebellar hypoplasia type 1E | pontocerebellar hypoplasia, type 1E"
BMGC_DS18396,BMG_DS070583,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1F | pontocerebellar hypoplasia type 1F | pontocerebellar hypoplasia, type 1F"
BMGC_DS18397,BMG_DS070584,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA | neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
BMGC_DS18398,BMG_DS070585,"LEUKODYSTROPHY, HYPOMYELINATING, 21 | hypomyelinating leukodystrophy 21 | leukodystrophy, hypomyelinating, 21"
BMGC_DS18399,BMG_DS070586,HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME | Hiatt-Neu-Cooper neurodevelopmental syndrome
BMGC_DS18400,BMG_DS070587,RADIO-TARTAGLIA SYNDROME | Radio-Tartaglia syndrome
BMGC_DS18401,BMG_DS070588,IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY | immunodeficiency 80 with or without congenital cardiomyopathy
BMGC_DS18402,BMG_DS070589,BURATTI-HAREL SYNDROME | Buratti-Harel syndrome
BMGC_DS18403,BMG_DS070590,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B | developmental and epileptic encephalopathy 6B
BMGC_DS18404,BMG_DS070591,OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME | oculogastrointestinal-neurodevelopmental syndrome
BMGC_DS18405,BMG_DS070592,LYMPHATIC MALFORMATION 9 | lymphatic malformation 9
BMGC_DS18406,BMG_DS070593,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 | intellectual developmental disorder, autosomal dominant 65"
BMGC_DS18407,BMG_DS070594,"GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES | growth restriction, hypoplastic kidneys, alopecia, and distinctive facies"
BMGC_DS18408,BMG_DS070595,MARBACH-RUSTAD PROGEROID SYNDROME | Marbach-Rustad progeroid syndrome
BMGC_DS18409,BMG_DS070596,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH | neurodevelopmental disorder with seizures and gingival overgrowth
BMGC_DS18410,BMG_DS070597,HYPERTRIGLYCERIDEMIA 2 | hypertriglyceridemia 2
BMGC_DS18411,BMG_DS070598,BDV (Blakemore Durmaz Vasileiou) syndrome | BDV syndrome | Blakemore Durmaz Vasileiou syndrome | CPE-related Prader-Willi-like syndrome | Carboxypeptidase E-related Prader-Willi-like syndrome | Carboxypeptidase E-related Prader-Willi-like syndrome (disorder)
BMGC_DS18412,BMG_DS070599,"LEUKODYSTROPHY, HYPOMYELINATING, 22 | hypomyelinating leukodystrophy 22 | leukodystrophy, hypomyelinating, 22"
BMGC_DS18413,BMG_DS070600,"FIBROMUSCULAR DYSPLASIA, MULTIFOCAL | fibromuscular dysplasia, multifocal"
BMGC_DS18414,BMG_DS070601,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
BMGC_DS18415,BMG_DS070602,ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 | arthrogryposis multiplex congenita 6 | arthrogryposis multiplex congenita-6
BMGC_DS18416,BMG_DS070603,"CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY"
BMGC_DS18417,BMG_DS070604,BARTSOCAS-PAPAS SYNDROME 2 | Bartsocas-Papas syndrome 2
BMGC_DS18418,BMG_DS070605,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96 | developmental and epileptic encephalopathy 96
BMGC_DS18419,BMG_DS070606,VISCERAL MYOPATHY 2 | visceral myopathy 2
BMGC_DS18420,BMG_DS070607,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 | megacystis-microcolon-intestinal hypoperistalsis syndrome 2
BMGC_DS18421,BMG_DS070608,"ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET | ataxia, intention tremor, and hypotonia syndrome, childhood-onset"
BMGC_DS18422,BMG_DS070609,"DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY | deafness, cataract, impaired intellectual development, and polyneuropathy"
BMGC_DS18423,BMG_DS070610,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 | mitochondrial complex IV deficiency nuclear type 22 | mitochondrial complex IV deficiency, nuclear type 22"
BMGC_DS18424,BMG_DS070611,"ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome"
BMGC_DS18425,BMG_DS070612,"ANGIOEDEMA, HEREDITARY, 4 | angioedema, hereditary, 4"
BMGC_DS18426,BMG_DS070613,"ANGIOEDEMA, HEREDITARY, 5 | angioedema, hereditary, 5"
BMGC_DS18427,BMG_DS070614,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 | megacystis-microcolon-intestinal hypoperistalsis syndrome 3
BMGC_DS18428,BMG_DS070615,"ANGIOEDEMA, HEREDITARY, 6 | angioedema, hereditary, 6"
BMGC_DS18429,BMG_DS070616,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 | megacystis-microcolon-intestinal hypoperistalsis syndrome 4
BMGC_DS18430,BMG_DS070617,"ANGIOEDEMA, HEREDITARY, 7 | angioedema, hereditary, 7"
BMGC_DS18431,BMG_DS070618,"ANGIOEDEMA, HEREDITARY, 8 | angioedema, hereditary, 8"
BMGC_DS18432,BMG_DS070619,LYMPHATIC MALFORMATION 10 | lymphatic malformation 10
BMGC_DS18433,BMG_DS070620,"CARDIOMYOPATHY, DILATED, 2D | cardiomyopathy, dilated, 2D | dilated cardiomyopathy 2D"
BMGC_DS18434,BMG_DS070621,NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS | neurodevelopmental disorder with infantile epileptic spasms
BMGC_DS18435,BMG_DS070622,IMMUNODEFICIENCY 81 | immunodeficiency 81
BMGC_DS18436,BMG_DS070623,"AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY | autoinflammatory syndrome with immunodeficiency"
BMGC_DS18437,BMG_DS070624,FAUNDES-BANKA SYNDROME | Faundes-Banka syndrome
BMGC_DS18438,BMG_DS070625,OSTEOOTOHEPATOENTERIC SYNDROME | osteootohepatoenteric syndrome
BMGC_DS18439,BMG_DS070626,SPERMATOGENIC FAILURE 54 | spermatogenic failure 54
BMGC_DS18440,BMG_DS070627,SPERMATOGENIC FAILURE 55 | spermatogenic failure 55
BMGC_DS18441,BMG_DS070628,IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION | immunodeficiency 82 with systemic inflammation
BMGC_DS18442,BMG_DS070629,"LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1 | Leber hereditary optic neuropathy, autosomal recessive"
BMGC_DS18443,BMG_DS070630,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES | neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"
BMGC_DS18444,BMG_DS070631,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 | combined oxidative phosphorylation deficiency 52
BMGC_DS18445,BMG_DS070632,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 | autosomal recessive spinocerebellar ataxia 29 | spinocerebellar ataxia, autosomal recessive 29"
BMGC_DS18446,BMG_DS070633,"encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10"
BMGC_DS18447,BMG_DS070634,LYMPHATIC MALFORMATION 11 | lymphatic malformation 11
BMGC_DS18448,BMG_DS070635,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 | cardiomyopathy, familial hypertrophic, 28"
BMGC_DS18449,BMG_DS070636,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 | autosomal recessive spinocerebellar ataxia 30 | spinocerebellar ataxia, autosomal recessive 30"
BMGC_DS18450,BMG_DS070637,HYPOKALEMIC TUBULOPATHY AND DEAFNESS | hypokalemic tubulopathy and deafness
BMGC_DS18451,BMG_DS070638,WHIM SYNDROME 2 | WHIM syndrome 2
BMGC_DS18452,BMG_DS070639,"NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 | neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2"
BMGC_DS18453,BMG_DS070640,MARTSOLF SYNDROME 2 | Martsolf syndrome 2
BMGC_DS18454,BMG_DS070641,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 | autosomal recessive spinocerebellar ataxia 31 | spinocerebellar ataxia, autosomal recessive 31"
BMGC_DS18455,BMG_DS070642,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53 | combined oxidative phosphorylation deficiency 53
BMGC_DS18456,BMG_DS070643,MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) | mitochondrial DNA depletion syndrome 16B | mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
BMGC_DS18457,BMG_DS070644,WHITE-KERNOHAN SYNDROME | White-Kernohan syndrome
BMGC_DS18458,BMG_DS070645,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 | megacystis-microcolon-intestinal hypoperistalsis syndrome 5
BMGC_DS18459,BMG_DS070646,"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6 | cardiomyopathy, familial restrictive, 6"
BMGC_DS18460,BMG_DS070647,"CILIARY DYSKINESIA, PRIMARY, 46 | ciliary dyskinesia, primary, 46"
BMGC_DS18461,BMG_DS070648,"HYPERTRIIODOTHYRONINEMIA, FAMILIAL DYSALBUMINEMIC"
BMGC_DS18462,BMG_DS070678,Neuroinflammatory Diseases
BMGC_DS18463,BMG_DS070680,Dominantly-Inherited Spinocerebellar Ataxias | Spinocerebellar Ataxias
BMGC_DS18464,BMG_DS070692,Chronic Condition | Chronic Disease
BMGC_DS18465,BMG_DS070790,Recurrent infection due to specific granule deficiency | Recurrent infection due to specific granule deficiency (disorder)
BMGC_DS18466,BMG_DS070883,bullous diffuse cutaneous mastocytosis
BMGC_DS18467,BMG_DS071119,Progressive supranuclear palsy corticobasal syndrome | Progressive supranuclear palsy corticobasal syndrome (disorder) | progressive supranuclear palsy-corticobasal syndrome
BMGC_DS18468,BMG_DS071124,Atypical glycine encephalopathy | Atypical glycine encephalopathy (disorder) | Atypical non-ketotic hyperglycinaemia | Atypical non-ketotic hyperglycinemia
BMGC_DS18469,BMG_DS071125,Neonatal glycine encephalopathy | Neonatal glycine encephalopathy (disorder) | Neonatal non-ketotic hyperglycinaemia | Neonatal non-ketotic hyperglycinemia | neonatal glycine encephalopathy
BMGC_DS18470,BMG_DS071126,familial adenomatous polyposis due to 5q22.2 microdeletion
BMGC_DS18471,BMG_DS071130,Infantile glycine encephalopathy | Infantile glycine encephalopathy (disorder) | Infantile non-ketotic hyperglycinaemia | Infantile non-ketotic hyperglycinemia | infantile glycine encephalopathy
BMGC_DS18472,BMG_DS071133,"Autosomal dominant distal hereditary motor neuropathy | Autosomal dominant distal hereditary motor neuropathy (disorder) | neuronopathy, distal hereditary motor, autosomal dominant"
BMGC_DS18473,BMG_DS071134,X-linked thrombocytopaenia with normal platelets | X-linked thrombocytopenia with normal platelets | X-linked thrombocytopenia with normal platelets (disorder)
BMGC_DS18474,BMG_DS071188,"Autosomal recessive distal hereditary motor neuropathy | Autosomal recessive distal hereditary motor neuropathy (disorder) | neuronopathy, distal hereditary motor, autosomal recessive"
BMGC_DS18475,BMG_DS071189,Progressive supranuclear palsy parkinsonism syndrome | Progressive supranuclear palsy parkinsonism syndrome (disorder)
BMGC_DS18476,BMG_DS071202,"Bilirubin UDP glucuronyl transferase deficiency | Bilirubin glucuronosyltransferase deficiency | Crigler-Najjar syndrome | Crigler-Najjar syndrome (disorder) | Crigler-Najjar syndrome type I | Crigler-Najjar syndrome, type I | Crigler-Najjar syndrome, type I (disorder) | Crigler-Najjar type 1 | CriglerNajjar syndrome | Deficiency of glucuronosyltransferase | Glucuronyltransferase deficiency | UDP glucuronyl transferase deficiency"
BMGC_DS18477,BMG_DS071204,"HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | hypoalphalipoproteinemia, primary, 2 | primary hypoalphalipoproteinemia 2"
BMGC_DS18478,BMG_DS071209,Infection by Trichuris | Trichocephaliasis | Trichuriasis | Trichuriasis (disorder) | Trichuriasis - whipworm | Trichuriosis | Whipworm infection | trichuriasis
BMGC_DS18479,BMG_DS071210,"DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL DOMINANT | dyskinesia with orofacial involvement, autosomal dominant"
BMGC_DS18480,BMG_DS071211,AICARDI-GOUTIERES SYNDROME 8 | Aicardi-Goutieres syndrome 8
BMGC_DS18481,BMG_DS071212,Infection of skin and/or subcutaneous tissue | Infection of skin and/or subcutaneous tissue (disorder) | Infective dermatological disorders | Skin and subcutaneous tissue infection | Skin infection
BMGC_DS18482,BMG_DS071214,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
BMGC_DS18483,BMG_DS071215,NEUROOCULAR SYNDROME 1 | neuroocular syndrome
BMGC_DS18484,BMG_DS071217,"CEROID LIPOFUSCINOSIS, NEURONAL, 6A | ceroid lipofuscinosis, neuronal, 6A"
BMGC_DS18485,BMG_DS071220,"Miyoshi muscular dystrophy | Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive"
BMGC_DS18486,BMG_DS071221,Typical absence seizure | Typical absence seizure (disorder) | Typical absence seizure (finding)
BMGC_DS18487,BMG_DS071223,testicular seminoma
BMGC_DS18488,BMG_DS071224,coxa vara
BMGC_DS18489,BMG_DS071227,"OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE | otospondylomegaepiphyseal dysplasia, autosomal recessive"
BMGC_DS18490,BMG_DS071229,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21 | intellectual disability, X-linked 21 | non-syndromic X-linked intellectual disability 21"
BMGC_DS18491,BMG_DS071232,Erythroderma desquamativum | Generalised seborrhoeic dermatitis of infants | Generalized seborrheic dermatitis of infants | Generalized seborrheic dermatitis of infants (disorder) | Infantile seborrheic dermatitis | Infantile seborrhoeic dermatitis | Leiner's disease | erythroderma desquamativum
BMGC_DS18492,BMG_DS071233,continuous spikes and waves during sleep
BMGC_DS18493,BMG_DS071234,"erythroleukemia, familial, susceptibility to"
BMGC_DS18494,BMG_DS071235,Miyoshi muscular dystrophy | Miyoshi myopathy
BMGC_DS18495,BMG_DS071240,SMARCA4-deficient sarcoma of thorax
BMGC_DS18496,BMG_DS071241,"multiple system atrophy, cerebellar type"
BMGC_DS18497,BMG_DS071242,"multiple system atrophy, parkinsonian type"
BMGC_DS18498,BMG_DS071257,RASopathy
BMGC_DS18499,BMG_DS071258,Intermediate epidermolysis bullosa simplex with cardiomyopathy | Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder)
BMGC_DS18500,BMG_DS071260,uterine ligament adenocarcinoma
BMGC_DS18501,BMG_DS071261,uterine ligament mucinous adenocarcinoma
BMGC_DS18502,BMG_DS071262,uterine ligament endometrioid adenocarcinoma
BMGC_DS18503,BMG_DS071263,uterine ligament clear cell adenocarcinoma
BMGC_DS18504,BMG_DS071264,endometrial type cervical adenomyoma
BMGC_DS18505,BMG_DS071275,"EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE | epidermolysis bullosa simplex 1B, generalized intermediate | epidermolysis bullosa simplex generalized type"
BMGC_DS18506,BMG_DS071276,RETINITIS PIGMENTOSA 91 | benign concentric annular macular dystrophy
BMGC_DS18507,BMG_DS071277,INTERSTITIAL LUNG DISEASE 2 | interstitial lung disease 2
BMGC_DS18508,BMG_DS071278,"CEROID LIPOFUSCINOSIS, NEURONAL, 6B (KUFS TYPE) | ceroid lipofuscinosis, neuronal, 6B (Kufs type)"
BMGC_DS18509,BMG_DS071279,anencephaly 1
BMGC_DS18510,BMG_DS071280,"LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1 | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | leukoencephalopathy, diffuse hereditary, with spheroids 1"
BMGC_DS18511,BMG_DS071281,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES | intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies"
BMGC_DS18512,BMG_DS071282,"epilepsy, idiopathic generalized, susceptibility to, 17"
BMGC_DS18513,BMG_DS071283,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 11 | familial febrile seizures 2"
BMGC_DS18514,BMG_DS071284,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2GG | Charcot-Marie-Tooth Disease, axonal, type 2GG"
BMGC_DS18515,BMG_DS071285,"BILE ACID MALABSORPTION, PRIMARY, 1 | bile acid malabsorption, primary, 1"
BMGC_DS18516,BMG_DS071286,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE | STT3A-congenital disorder of glycosylation | congenital disorder of glycosylation Iw"
BMGC_DS18517,BMG_DS071287,BARDET-BIEDL SYNDROME 22 | Bardet-Biedl syndrome 22
BMGC_DS18518,BMG_DS071288,"MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY | myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy"
BMGC_DS18519,BMG_DS071289,FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME | focal segmental glomerulosclerosis and neurodevelopmental syndrome
BMGC_DS18520,BMG_DS071290,RITSCHER-SCHINZEL SYNDROME 4 | Ritscher-Schinzel syndrome 4
BMGC_DS18521,BMG_DS071291,IMMUNODEFICIENCY 84 | immunodeficiency 84
BMGC_DS18522,BMG_DS071292,"encephalitis, acute, infection (viral)-induced, susceptibility to, 11"
BMGC_DS18523,BMG_DS071293,"DIARRHEA 12, WITH MICROVILLUS ATROPHY | diarrhea 12, with microvillus atrophy"
BMGC_DS18524,BMG_DS071294,RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE | retinal dystrophy and microvillus inclusion disease
BMGC_DS18525,BMG_DS071295,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE | cutis laxa, autosomal recessive, type 2E"
BMGC_DS18526,BMG_DS071296,anencephaly 2
BMGC_DS18527,BMG_DS071297,LUO-SCHOCH-YAMAMOTO SYNDROME | Luo-Schoch-Yamamoto syndrome
BMGC_DS18528,BMG_DS071298,"MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE | myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive"
BMGC_DS18529,BMG_DS071299,"PORTAL HYPERTENSION, NONCIRRHOTIC, 2 | portal hypertension, noncirrhotic, 2"
BMGC_DS18530,BMG_DS071300,SICK SINUS SYNDROME 4 | sick sinus syndrome 4
BMGC_DS18531,BMG_DS071301,"VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE | visceral neuropathy, familial, 2, autosomal recessive"
BMGC_DS18532,BMG_DS071302,"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY | ciliary dyskinesia, primary, 47, and lissencephaly"
BMGC_DS18533,BMG_DS071303,"USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT | Usmani-Riazuddin syndrome, autosomal dominant"
BMGC_DS18534,BMG_DS071304,NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 | nephronophthisis-like nephropathy 2
BMGC_DS18535,BMG_DS071305,NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
BMGC_DS18536,BMG_DS071306,VISS SYNDROME | VISS syndrome
BMGC_DS18537,BMG_DS071307,OCULOPHARYNGODISTAL MYOPATHY 3 | oculopharyngodistal myopathy 3
BMGC_DS18538,BMG_DS071308,"developmental delay, impaired speech, and behavioral abnormalities"
BMGC_DS18539,BMG_DS071309,JOUBERT SYNDROME 38 | Joubert syndrome 38
BMGC_DS18540,BMG_DS071310,"FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC | facioscapulohumeral muscular dystrophy 3 | facioscapulohumeral muscular dystrophy 3, digenic"
BMGC_DS18541,BMG_DS071311,"FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC | facioscapulohumeral muscular dystrophy 4 | facioscapulohumeral muscular dystrophy 4, digenic"
BMGC_DS18542,BMG_DS071312,SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY | short-rib thoracic dysplasia 21 without polydactyly
BMGC_DS18543,BMG_DS071313,"BILE ACID MALABSORPTION, PRIMARY, 2 | bile acid malabsorption, primary, 2"
BMGC_DS18544,BMG_DS071314,"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION | central hypoventilation syndrome, congenital, 2, and autonomic dysfunction"
BMGC_DS18545,BMG_DS071315,"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3 | central hypoventilation syndrome, congenital, 3"
BMGC_DS18546,BMG_DS071316,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 | cholestasis, progressive familial intrahepatic, 6"
BMGC_DS18547,BMG_DS071317,AICARDI-GOUTIERES SYNDROME 9 | Aicardi-Goutieres syndrome 9
BMGC_DS18548,BMG_DS071318,DEGCAGS SYNDROME | DEGCAGS syndrome
BMGC_DS18549,BMG_DS071319,"SHORT STATURE, DAUBER-ARGENTE TYPE | Short stature, Dauber-Argente type"
BMGC_DS18550,BMG_DS071320,"Parkinson disease 24, autosomal dominant, susceptibility to"
BMGC_DS18551,BMG_DS071321,"CARDIOMYOPATHY, DILATED, 2E | cardiomyopathy, dilated, 2E | dilated cardiomyopathy 2E"
BMGC_DS18552,BMG_DS071322,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v | congenital disorder of glycosylation, type 2v"
BMGC_DS18553,BMG_DS071323,"DEAFNESS, AUTOSOMAL DOMINANT 81 | autosomal dominant nonsyndromic deafness 81 | hearing loss, autosomal dominant 81"
BMGC_DS18554,BMG_DS071324,VENTRICULOMEGALY AND ARTHROGRYPOSIS | ventriculomegaly and arthrogryposis
BMGC_DS18555,BMG_DS071325,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES | neurodevelopmental disorder with hypotonia and dysmorphic facies
BMGC_DS18556,BMG_DS071326,CHOPRA-AMIEL-GORDON SYNDROME | Chopra-Amiel-Gordon syndrome
BMGC_DS18557,BMG_DS071327,IMMUNODEFICIENCY 85 AND AUTOIMMUNITY | immunodeficiency 85 and autoimmunity
BMGC_DS18558,BMG_DS071328,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES | neurodevelopmental disorder with hypotonia and brain abnormalities
BMGC_DS18559,BMG_DS071329,SPERMATOGENIC FAILURE 56 | spermatogenic failure 56
BMGC_DS18560,BMG_DS071330,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES | neurodevelopmental disorder with seizures and brain abnormalities
BMGC_DS18561,BMG_DS071331,"MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME | muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome"
BMGC_DS18562,BMG_DS071332,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF | Charcot-Marie-Tooth disease, axonal, type 2FF"
BMGC_DS18563,BMG_DS071333,"epilepsy, idiopathic generalized, susceptibility to, 18"
BMGC_DS18564,BMG_DS071334,NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES | neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
BMGC_DS18565,BMG_DS071335,"ANEMIA, SIDEROBLASTIC, 5 | anemia, sideroblastic, 5 | sideroblastic anemia 5"
BMGC_DS18566,BMG_DS071336,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw | congenital disorder of glycosylation, type IIw"
BMGC_DS18567,BMG_DS071337,"PONTOCEREBELLAR HYPOPLASIA, TYPE 16 | pontocerebellar hypoplasia type 16 | pontocerebellar hypoplasia, type 16"
BMGC_DS18568,BMG_DS071338,SPERMATOGENIC FAILURE 57 | spermatogenic failure 57
BMGC_DS18569,BMG_DS071339,CONE-ROD DYSTROPHY 22 | cone-rod dystrophy 22
BMGC_DS18570,BMG_DS071340,"BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME | biliary, renal, neurologic, and skeletal syndrome"
BMGC_DS18571,BMG_DS071341,cerebral cavernous malformation 4
BMGC_DS18572,BMG_DS071342,BOUDIN-MORTIER SYNDROME | Boudin-Mortier syndrome
BMGC_DS18573,BMG_DS071343,"USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE | Usmani-Riazuddin syndrome, autosomal recessive"
BMGC_DS18574,BMG_DS071344,IMMUNODEFICIENCY 86 | immunodeficiency 86
BMGC_DS18575,BMG_DS071345,"DEAFNESS, AUTOSOMAL RECESSIVE 118, WITH COCHLEAR APLASIA | hearing loss, autosomal recessive 118, with cochlear aplasia"
BMGC_DS18576,BMG_DS071346,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies"
BMGC_DS18577,BMG_DS071347,"SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES | short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies"
BMGC_DS18578,BMG_DS071348,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97 | developmental and epileptic encephalopathy 97
BMGC_DS18579,BMG_DS071349,JOUBERT SYNDROME 39 | Joubert syndrome 39
BMGC_DS18580,BMG_DS071350,DYSTONIA 31 | dystonia 31
BMGC_DS18581,BMG_DS071351,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 | muscular dystrophy, limb-girdle, autosomal recessive 27"
BMGC_DS18582,BMG_DS071352,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH | Charcot-Marie-Tooth disease, axonal, Type 2HH"
BMGC_DS18583,BMG_DS071353,DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES | developmental delay with or without intellectual impairment or behavioral abnormalities
BMGC_DS18584,BMG_DS071354,"CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS | cerebellar ataxia, brain abnormalities, and cardiac conduction defects"
BMGC_DS18585,BMG_DS071355,NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with impaired language and ataxia and with or without seizures
BMGC_DS18586,BMG_DS071356,JOUBERT SYNDROME 40 | Joubert syndrome 40
BMGC_DS18587,BMG_DS071357,SPERMATOGENIC FAILURE 58 | spermatogenic failure 58
BMGC_DS18588,BMG_DS071358,"EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE | epidermolysis bullosa simplex 2B, generalized intermediate"
BMGC_DS18589,BMG_DS071359,CATARACT 49 | cataract 49
BMGC_DS18590,BMG_DS071360,"EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED | epidermolysis bullosa simplex 2C, localized"
BMGC_DS18591,BMG_DS071361,"DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES | developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities"
BMGC_DS18592,BMG_DS071362,"RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE | rhizomelic dysplasia, Ain-Naz type"
BMGC_DS18593,BMG_DS071363,"EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE | epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive"
BMGC_DS18594,BMG_DS071364,"FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES | fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies"
BMGC_DS18595,BMG_DS071365,GALLOWAY-MOWAT SYNDROME 9 | Galloway-Mowat syndrome 9
BMGC_DS18596,BMG_DS071366,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 | developmental and epileptic encephalopathy 98
BMGC_DS18597,BMG_DS071367,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99 | developmental and epileptic encephalopathy 99
BMGC_DS18598,BMG_DS071368,"HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY | heterotaxy, visceral, 11, autosomal, with male infertility"
BMGC_DS18599,BMG_DS071369,GALLOWAY-MOWAT SYNDROME 10 | Galloway-Mowat syndrome 10
BMGC_DS18600,BMG_DS071370,INTERSTITIAL LUNG DISEASE 1 | interstitial lung disease 1
BMGC_DS18601,BMG_DS071371,RETINITIS PIGMENTOSA 92 | retinitis pigmentosa 92
BMGC_DS18602,BMG_DS071372,"DEAFNESS, AUTOSOMAL RECESSIVE 119 | hearing loss, autosomal recessive 119"
BMGC_DS18603,BMG_DS071373,NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY | neurodevelopmental disorder with hearing loss and spasticity
BMGC_DS18604,BMG_DS071374,"SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 84 | spastic paraplegia 84, autosomal recessive"
BMGC_DS18605,BMG_DS071375,IMMUNODEFICIENCY 88 | immunodeficiency 88
BMGC_DS18606,BMG_DS071376,IMMUNODEFICIENCY 89 AND AUTOIMMUNITY | immunodeficiency 89 and autoimmunity
BMGC_DS18607,BMG_DS071377,ACROMESOMELIC DYSPLASIA 4 | acromesomelic dysplasia 4 | acromesomelic dysplasia-4
BMGC_DS18608,BMG_DS071378,DYSTONIA 32 | dystonia 32
BMGC_DS18609,BMG_DS071379,"SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE | spondylometaphyseal dysplasia, pagnamenta type"
BMGC_DS18610,BMG_DS071380,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY | neurodevelopmental disorder with hypotonia and gross motor and speech delay
BMGC_DS18611,BMG_DS071381,HENGEL-MAROOFIAN-SCHOLS SYNDROME | Hengel-Maroofian-Schols syndrome
BMGC_DS18612,BMG_DS071382,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11 | oocyte maturation defect 11
BMGC_DS18613,BMG_DS071383,SPERMATOGENIC FAILURE 59 | spermatogenic failure 59
BMGC_DS18614,BMG_DS071384,SPERMATOGENIC FAILURE 60 | spermatogenic failure 60
BMGC_DS18615,BMG_DS071385,"DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE | dyskinesia with orofacial involvement, autosomal recessive"
BMGC_DS18616,BMG_DS071386,ZAKI SYNDROME | Zaki syndrome
BMGC_DS18617,BMG_DS071387,NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA | neurodevelopmental disorder with hyperkinetic movements and dyskinesia
BMGC_DS18618,BMG_DS071388,IMMUNODEFICIENCY 92 | immunodeficiency 92
BMGC_DS18619,BMG_DS071389,"NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS | neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus"
BMGC_DS18620,BMG_DS071390,LOEYS-DIETZ SYNDROME 6 | Loeys-Dietz syndrome 6
BMGC_DS18621,BMG_DS071391,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY | congenital heart defects, multiple types, 8, with or without heterotaxy"
BMGC_DS18622,BMG_DS071392,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS | cholestasis, progressive familial intrahepatic, 7, with or without hearing loss"
BMGC_DS18623,BMG_DS071393,"LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2 | leukoencephalopathy, hereditary diffuse, with spheroids 2"
BMGC_DS18624,BMG_DS071394,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 | cholestasis, progressive familial intrahepatic, 8"
BMGC_DS18625,BMG_DS071395,OVARIAN DYSGENESIS 9 | ovarian dysgenesis 9
BMGC_DS18626,BMG_DS071396,SPERMATOGENIC FAILURE 61 | spermatogenic failure 61
BMGC_DS18627,BMG_DS071397,SPERMATOGENIC FAILURE 62 | spermatogenic failure 62
BMGC_DS18628,BMG_DS071398,MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME | Marbach-Schaaf neurodevelopmental syndrome
BMGC_DS18629,BMG_DS071399,"DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA | dystonia, early-onset, and/or spastic paraplegia | early-onset dystonia and/or spastic paraplegia"
BMGC_DS18630,BMG_DS071400,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS | neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis"
BMGC_DS18631,BMG_DS071401,"SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 85 | spastic paraplegia 85, autosomal recessive"
BMGC_DS18632,BMG_DS071402,DYSTONIA 33 | dystonia 33
BMGC_DS18633,BMG_DS071403,SPERMATOGENIC FAILURE 63 | spermatogenic failure 63
BMGC_DS18634,BMG_DS071404,BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME | Brunet-Wagner neurodevelopmental syndrome
BMGC_DS18635,BMG_DS071405,"TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE | nonphotosensitive trichothiodystrophy 8 | trichothiodystrophy 8, nonphotosensitive"
BMGC_DS18636,BMG_DS071406,"TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE | nonphotosensitive trichothiodystrophy 9 | trichothiodystrophy 9, nonphotosensitive"
BMGC_DS18637,BMG_DS071407,"AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE | agammaglobulinemia 9 | agammaglobulinemia 9, autosomal recessive"
BMGC_DS18638,BMG_DS071408,DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES | developmental delay with variable neurologic and brain abnormalities
BMGC_DS18639,BMG_DS071409,RAUCH-STEINDL SYNDROME | Rauch-Steindl syndrome
BMGC_DS18640,BMG_DS071410,SPERMATOGENIC FAILURE 64 | spermatogenic failure 64
BMGC_DS18641,BMG_DS071411,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12 | oocyte maturation defect 12
BMGC_DS18642,BMG_DS071412,"MUCOPOLYSACCHARIDOSIS, TYPE X | mucopolysaccharidosis, type 10"
BMGC_DS18643,BMG_DS071413,FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME | Ferguson-Bonni neurodevelopmental syndrome
BMGC_DS18644,BMG_DS071414,YOON-BELLEN NEURODEVELOPMENTAL SYNDROME | Yoon-Bellen neurodevelopmental syndrome
BMGC_DS18645,BMG_DS071415,SPERMATOGENIC FAILURE 65 | spermatogenic failure 65
BMGC_DS18646,BMG_DS071416,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT | congenital disorder of glycosylation, type Iw, autosomal dominant"
BMGC_DS18647,BMG_DS071417,"MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 28, primary, autosomal recessive"
BMGC_DS18648,BMG_DS071418,IMMUNODEFICIENCY 87 AND AUTOIMMUNITY | immunodeficiency 87 and autoimmunity
BMGC_DS18649,BMG_DS071419,Sd(a) POLYAGGLUTINATION SYNDROME
BMGC_DS18650,BMG_DS071420,"HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY | heterotaxy, visceral, 10, autosomal, with male infertility"
BMGC_DS18651,BMG_DS071421,IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION | immunodeficiency 91 and hyperinflammation
BMGC_DS18652,BMG_DS071422,"LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY | hypomyelinating leukodystrophy 23 | leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy"
BMGC_DS18653,BMG_DS071423,"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1 | central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"
BMGC_DS18654,BMG_DS071424,CHROMOSOME 16q12 DUPLICATION SYNDROME | chromosome 16q12 duplication syndrome
BMGC_DS18655,BMG_DS071444,"ANOSMIA, ISOLATED CONGENITAL, X-LINKED | anosmia, isolated congenital, X-linked"
BMGC_DS18656,BMG_DS071446,"CHROMOSOME 1p36 DELETION SYNDROME, PROXIMAL | chromosome 1p36 deletion syndrome, proximal"
BMGC_DS18657,BMG_DS071453,Miyoshi muscular dystrophy | mmd1 myopathy
BMGC_DS18658,BMG_DS071477,Angelman syndrome due to maternal 15q11q13 deletion | Angelman syndrome due to maternal monosomy 15q11q13 | Angelman syndrome due to maternal monosomy 15q11q13 (disorder)
BMGC_DS18659,BMG_DS071499,MRKH (Mayer Rokitansky Küster Hauser) syndrome type 1 | Mayer Rokitansky Küster Hauser syndrome type 1 | Mayer Rokitansky Küster Hauser syndrome type 1 (disorder) | Mayer-Rokitansky-Kuster-Hauser syndrome type 1
BMGC_DS18660,BMG_DS071509,GSDXIII - glycogen storage disease type XIII | Glycogen storage disease due to muscle beta-enolase deficiency | Glycogen storage disease due to muscle beta-enolase deficiency (disorder) | Glycogenosis due to muscle beta-enolase deficiency | Glycogenosis type 13 | Muscle enolase deficiency
BMGC_DS18661,BMG_DS071649,"X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome | X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)"
BMGC_DS18662,BMG_DS071650,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (disorder) | childhood-onset neurodegeneration with brain atrophy
BMGC_DS18663,BMG_DS071652,"Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome | Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) | early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"
BMGC_DS18664,BMG_DS071661,LRP5-related primary osteoporosis | Low density lipoprotein receptor-related protein 5 related primary osteoporosis | Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder)
BMGC_DS18665,BMG_DS071703,MME-related autosomal dominant Charcot Marie Tooth disease type 2 | MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 | Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 | Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder)
BMGC_DS18666,BMG_DS071704,"Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome | Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"
BMGC_DS18667,BMG_DS071705,"Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome (disorder) | kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"
BMGC_DS18668,BMG_DS071706,"Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome | Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder) | kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"
BMGC_DS18669,BMG_DS071707,"Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder) | early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"
BMGC_DS18670,BMG_DS071708,"Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder) | congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"
BMGC_DS18671,BMG_DS071709,C11ORF73-related autosomal recessive hypomyelinating leucodystrophy | C11ORF73-related autosomal recessive hypomyelinating leucoencephalopathy | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy | Hypomyelinating leucodystrophy due to HIKESHI deficiency | Hypomyelinating leukodystrophy due to HIKESHI deficiency | c11orf73-related autosomal recessive hypomyelinating leukodystrophy
BMGC_DS18672,BMG_DS071710,Childhood-onset benign chorea with striatal involvement | Childhood-onset benign chorea with striatal involvement (disorder) | childhood-onset benign chorea with striatal involvement
BMGC_DS18673,BMG_DS071711,"Infantile-onset generalised dyskinesia with orofacial involvement | Infantile-onset generalized dyskinesia with orofacial involvement | Infantile-onset generalized dyskinesia with orofacial involvement (disorder) | Infantile-onset orofacial, trunk, limbs dyskinesia | infantile-onset generalized dyskinesia with orofacial involvement"
BMGC_DS18674,BMG_DS071712,"DIAPH1-related sensorineural deafness, thrombocytopenia syndrome | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome | Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder)"
BMGC_DS18675,BMG_DS071713,"Retinitis pigmentosa, deafness, premature ageing, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, deafness, premature aging, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)"
BMGC_DS18676,BMG_DS071715,Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome | Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder) | RERE-related neurodevelopmental syndrome
BMGC_DS18677,BMG_DS071716,DDX41-related haematologic malignancy predisposition syndrome | DDX41-related hematologic malignancy predisposition syndrome | DEAD-box helicase 41-related haematologic malignancy predisposition syndrome | DEAD-box helicase 41-related hematologic malignancy predisposition syndrome | DEAD-box helicase 41-related hematologic malignancy predisposition syndrome (disorder)
BMGC_DS18678,BMG_DS071717,"Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency | Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency | Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder) | PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency"
BMGC_DS18679,BMG_DS071718,"TBC1 domain containing kinase-related intellectual disability syndrome | TBC1 domain containing kinase-related intellectual disability syndrome (disorder) | TBCK-related intellectual disability syndrome | hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | infantile hypotonia with psychomotor retardation and characteristic facies-3"
BMGC_DS18680,BMG_DS071719,"Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder)"
BMGC_DS18681,BMG_DS071720,"Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder) | obsolete global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome"
BMGC_DS18682,BMG_DS071721,Autosomal recessive spastic paraplegia type 76 | Autosomal recessive spastic paraplegia type 76 (disorder) | autosomal recessive spastic paraplegia type 76
BMGC_DS18683,BMG_DS071722,SIX homeobox 2-related frontonasal dysplasia | SIX homeobox 2-related frontonasal dysplasia (disorder) | SIX2-related frontonasal dysplasia | six2-related frontonasal dysplasia
BMGC_DS18684,BMG_DS071723,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS (histidyl-tRNA synthetase 1) mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2W | Autosomal dominant Charcot-Marie-Tooth disease type 2W (disorder) | autosomal dominant Charcot-Marie-Tooth disease type 2W
BMGC_DS18685,BMG_DS071724,"SFMMP (split-foot malformation, mesoaxial polydactyly) syndrome | Split-foot malformation, mesoaxial polydactyly syndrome | Split-foot malformation, mesoaxial polydactyly syndrome (disorder) | Split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome | split-foot malformation-mesoaxial polydactyly syndrome"
BMGC_DS18686,BMG_DS071726,female infertility due to oocyte meiotic arrest
BMGC_DS18687,BMG_DS071730,"Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder) | SMO (sterol-C4-methyl oxidase) deficiency | Sterol-C4-methyl oxidase deficiency | microcephaly-congenital cataract-psoriasiform dermatitis syndrome"
BMGC_DS18688,BMG_DS071731,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder) | autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
BMGC_DS18689,BMG_DS071732,Prenatal-onset spinal muscular atrophy with congenital bone fractures | Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | prenatal-onset spinal muscular atrophy with congenital bone fractures
BMGC_DS18690,BMG_DS071734,"X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome | X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome (disorder) | X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"
BMGC_DS18691,BMG_DS071735,"ADSSL1-related distal myopathy | Adenylosuccinate synthetase-like 1-related distal myopathy | Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) | myopathy, distal, 5"
BMGC_DS18692,BMG_DS071736,"Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome | Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) | global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"
BMGC_DS18693,BMG_DS071737,"X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females | X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability | X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder) | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"
BMGC_DS18694,BMG_DS071738,"Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome | Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) | TANGO2-related metabolic encephalopathy, arrhythmia syndrome | Transport and golgi organisation 2 homolog-related metabolic encephalopathy, arrhythmia syndrome | Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome | recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome"
BMGC_DS18695,BMG_DS071741,"Lethal hydranencephaly, diaphragmatic hernia syndrome | Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | lethal hydranencephaly-diaphragmatic hernia syndrome"
BMGC_DS18696,BMG_DS071744,"Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder)"
BMGC_DS18697,BMG_DS071745,COXPD30 - combined oxidative phosphorylation defect type 30 | Combined oxidative phosphorylation defect type 30 | Combined oxidative phosphorylation defect type 30 (disorder) | combined oxidative phosphorylation defect type 30
BMGC_DS18698,BMG_DS071746,COXPD29 - combined oxidative phosphorylation defect type 29 | Combined oxidative phosphorylation defect type 29 | Combined oxidative phosphorylation defect type 29 (disorder) | combined oxidative phosphorylation deficiency 29
BMGC_DS18699,BMG_DS071747,COXPD27 - combined oxidative phosphorylation defect type 27 | Combined oxidative phosphorylation defect type 27 | Combined oxidative phosphorylation defect type 27 (disorder) | combined oxidative phosphorylation defect type 27
BMGC_DS18700,BMG_DS071748,"Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder)"
BMGC_DS18701,BMG_DS071749,Autosomal recessive MSMD (mendelian susceptibility to mycobacterial disease) due to complete RORgamma receptor mutation | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation | Autosomal recessive primary immunodeficiency due to RORC mutation | autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
BMGC_DS18702,BMG_DS071750,"Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder) | progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"
BMGC_DS18703,BMG_DS071751,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) | PLA2G4A (phospholipase A2 group IVA) related platelet dysfunction | PLA2G4A-related platelet dysfunction | Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency | cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
BMGC_DS18704,BMG_DS071758,COXPD26 - combined oxidative phosphorylation defect type 26 | Combined oxidative phosphorylation defect type 26 | Combined oxidative phosphorylation defect type 26 (disorder) | combined oxidative phosphorylation defect type 26
BMGC_DS18705,BMG_DS071759,COXPD25 - combined oxidative phosphorylation defect type 25 | Combined oxidative phosphorylation defect type 25 | Combined oxidative phosphorylation defect type 25 (disorder) | combined oxidative phosphorylation defect type 25
BMGC_DS18706,BMG_DS071760,COXPD23 - combined oxidative phosphorylation defect type 23 | Combined oxidative phosphorylation defect type 23 | Combined oxidative phosphorylation defect type 23 (disorder) | combined oxidative phosphorylation defect type 23
BMGC_DS18707,BMG_DS071762,"Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder) | neurodevelopmental disorder with spastic paraplegia and microcephaly"
BMGC_DS18708,BMG_DS071763,IL21-related infantile inflammatory bowel disease | Interleukin 21 related infantile inflammatory bowel disease | Interleukin 21 related infantile inflammatory bowel disease (disorder)
BMGC_DS18709,BMG_DS071764,Congenital generalised hypercontractile muscle stiffness syndrome | Congenital generalized hypercontractile muscle stiffness syndrome | Congenital generalized hypercontractile muscle stiffness syndrome (disorder) | congenital generalized hypercontractile muscle stiffness syndrome
BMGC_DS18710,BMG_DS071770,MRSA (Methicillin resistant Staphylococcus aureus) skin infection | Methicillin resistant Staphylococcus aureus skin infection | Skin infection caused by Methicillin resistant Staphylococcus aureus | Skin infection caused by Methicillin resistant Staphylococcus aureus (disorder)
BMGC_DS18711,BMG_DS071810,PMP2-related Charcot-Marie-Tooth disease type 1 | PMP2-related Charcot-Marie-Tooth neuropathy type 1 | PMP2-related hereditary motor and sensory neuropathy type 1 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder)
BMGC_DS18712,BMG_DS071812,Autosomal recessive spastic paraplegia type 78 | Autosomal recessive spastic paraplegia type 78 (disorder) | SPG78 - autosomal recessive spastic paraplegia type 78 | autosomal recessive spastic paraplegia type 78
BMGC_DS18713,BMG_DS071816,"Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome | Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency | MYSM1 deficiency | congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome"
BMGC_DS18714,BMG_DS071818,"EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome | EXTL3-related neuro-immuno-skeletal dysplasia syndrome | Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency | Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome"
BMGC_DS18715,BMG_DS071819,Hyperphenylalanineaemia due to DNAJC12 deficiency | Hyperphenylalanineaemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency | Hyperphenylalaninemia due to DNAJC12 deficiency | Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency | Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder) | Non-phenylketonuric non-BH4-deficiency hyperphenylalanineaemia | Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
BMGC_DS18716,BMG_DS071820,"Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome | Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"
BMGC_DS18717,BMG_DS071822,OFD18 - oral-facial-digital syndrome type 18 | Oral-facial-digital syndrome with short stature and brachymesophalangia | Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder) | Orofaciodigital syndrome type 18 | orofaciodigital syndrome 18
BMGC_DS18718,BMG_DS071851,"Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (disorder)"
BMGC_DS18719,BMG_DS071852," | Metopic ridging, ptosis, facial dysmorphism syndrome | Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) | Weiss-Kruszka syndrome"
BMGC_DS18720,BMG_DS071853,Combined immunodeficiency due to moesin deficiency | Combined immunodeficiency due to moesin deficiency (disorder) | MSN (moesin) related combined immunodeficiency | X-linked moesin-associated immunodeficiency | combined immunodeficiency due to moesin deficiency
BMGC_DS18721,BMG_DS071854,"Combined immunodeficiency due to GINS complex subunit 1 deficiency | Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) | Combined immunodeficiency due to GINS1 (GINS complex subunit 1) deficiency | Combined immunodeficiency due to GINS1 deficiency | Combined immunodeficiency with intrauterine growth retardation, NK (natural killer) cell deficiency, neutropenia | combined immunodeficiency due to GINS1 deficiency"
BMGC_DS18722,BMG_DS071855,Combined immunodeficiency due to TFRC deficiency | Combined immunodeficiency due to transferrin receptor deficiency | Combined immunodeficiency due to transferrin receptor deficiency (disorder) | TFRC (transferrin receptor) related combined immunodeficiency | TFRC-related combined immunodeficiency | immunodeficiency 46
BMGC_DS18723,BMG_DS071856,EKC (erythrokeratodermia cardiomyopathy) syndrome | Erythrokeratodermia cardiomyopathy syndrome | Erythrokeratodermia cardiomyopathy syndrome (disorder)
BMGC_DS18724,BMG_DS071857,"Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (disorder) | autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"
BMGC_DS18725,BMG_DS071858,"Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome | BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy | BVES-related limb girdle muscular dystrophy | Blood vessel epicardial substance related limb girdle muscular dystrophy | Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Limb girdle muscular dystrophy 2X | autosomal recessive limb-girdle muscular dystrophy type 2X"
BMGC_DS18726,BMG_DS071859,Familial PDA (patent ductus arteriosus) | Familial patent arterial duct | Familial patent arterial duct (disorder)
BMGC_DS18727,BMG_DS071860,"Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome | Lethal skeletal dysplasia, foetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome | NEK9-related lethal skeletal dysplasia | NIMA related kinase 9 lethal skeletal dysplasia | NIMA related kinase 9 lethal skeletal dysplasia (disorder)"
BMGC_DS18728,BMG_DS071861,DYRK1A-related intellectual disability syndrome
BMGC_DS18729,BMG_DS071903,"Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) | immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"
BMGC_DS18730,BMG_DS071905,Combined immunodeficiency due to CARMIL2 deficiency | Combined immunodeficiency due to RLTPR deficiency | Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency | Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder)
BMGC_DS18731,BMG_DS071906,"Growth delay, intellectual disability, hepatopathy syndrome | Growth delay, intellectual disability, hepatopathy syndrome (disorder)"
BMGC_DS18732,BMG_DS071907,Combined immunodeficiency due to CD70 deficiency | Combined immunodeficiency due to CD70 deficiency (disorder) | severe combined immunodeficiency due to CD70 deficiency
BMGC_DS18733,BMG_DS071908,"COQ4-related neonatal encephalomyopathy | Coenzyme Q4-related neonatal encephalomyopathy | Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome | Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"
BMGC_DS18734,BMG_DS071909,"CAIN (CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome | CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome | CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) | CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome | CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome"
BMGC_DS18735,BMG_DS071912,HTRA1-related autosomal dominant cerebral angiopathy | HTRA1-related autosomal dominant cerebral small vessel disease | HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease | HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder)
BMGC_DS18736,BMG_DS071916,"Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome | Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) | intellectual disability-cardiac anomalies-short stature-joint laxity syndrome"
BMGC_DS18737,BMG_DS071917,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
BMGC_DS18738,BMG_DS071934,Atypical pantothenate kinase associated neurodegeneration | Atypical pantothenate kinase associated neurodegeneration (disorder) | atypical pantothenate kinase-associated neurodegeneration
BMGC_DS18739,BMG_DS071992,complex neurodevelopmental disorder
BMGC_DS18740,BMG_DS071994,"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) | Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 (sphingosine-1-phosphate lyase 1) deficiency | Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 deficiency"
BMGC_DS18741,BMG_DS071995,"STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome | STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome (disorder) | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome"
BMGC_DS18742,BMG_DS071996,"Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome | Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome (disorder)"
BMGC_DS18743,BMG_DS071997,"Cerebrorenal syndrome Perez type | Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome | Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder)"
BMGC_DS18744,BMG_DS072003,Mucopolysaccharidosis-like plus disease | Mucopolysaccharidosis-like plus disease (disorder) | Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder | Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder
BMGC_DS18745,BMG_DS072004,"Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder) | Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome"
BMGC_DS18746,BMG_DS072005,"Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome | Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) | autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"
BMGC_DS18747,BMG_DS072017,Isolated generalised anhidrosis with normal sweat glands | Isolated generalized anhidrosis with normal sweat glands | Isolated generalized anhidrosis with normal sweat glands (disorder) | isolated anhidrosis with normal sweat glands
BMGC_DS18748,BMG_DS072018,Autosomal recessive spastic paraplegia type 74 | Autosomal recessive spastic paraplegia type 74 (disorder) | hereditary spastic paraplegia 74
BMGC_DS18749,BMG_DS072019,Chronic enteropathy associated with SLCO2A1 gene | Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene | Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) | chronic enteropathy associated with SLCO2A1 gene
BMGC_DS18750,BMG_DS072021,"Intellectual disability, epilepsy, extrapyramidal syndrome | Intellectual disability, epilepsy, extrapyramidal syndrome (disorder)"
BMGC_DS18751,BMG_DS072022,"Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome | Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)"
BMGC_DS18752,BMG_DS072023,tubulinopathy-associated dysgyria
BMGC_DS18753,BMG_DS072025,Autosomal dominant thrombocytopenia with platelet secretion defect | Autosomal dominant thrombocytopenia with platelet secretion defect (disorder)
BMGC_DS18754,BMG_DS072027,"SBIDDS - short stature, brachydactyly, impaired intellectual development, seizures | Short stature, brachydactyly, obesity, global developmental delay syndrome | Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder)"
BMGC_DS18755,BMG_DS072028,"SPPRS (spastic paraplegia, psychomotor retardation, seizures) syndrome | Spastic paraplegia, severe developmental delay, epilepsy syndrome | Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder)"
BMGC_DS18756,BMG_DS072029,"G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) | GNB5-related intellectual disability, cardiac arrhythmia syndrome | gnb5-related intellectual disability-cardiac arrhythmia syndrome"
BMGC_DS18757,BMG_DS072030,VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leucodystrophy | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder) | VPS11-related autosomal recessive hypomyelinating leucodystrophy | VPS11-related autosomal recessive hypomyelinating leucoencephalopathy | VPS11-related autosomal recessive hypomyelinating leukodystrophy | VPS11-related autosomal recessive hypomyelinating leukoencephalopathy
BMGC_DS18758,BMG_DS072031,"Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) | progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"
BMGC_DS18759,BMG_DS072032,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) | Glycogenosis due to phosphoglycerate kinase 1 deficiency
BMGC_DS18760,BMG_DS072033,"Autosomal dominant spastic paraplegia type 9A | Autosomal dominant spastic paraplegia type 9A (disorder) | Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome | Spastic paraparesis, amyotrophy, cataracts, gastro-oesophageal reflux syndrome | Spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome | hereditary spastic paraplegia 9A"
BMGC_DS18761,BMG_DS072034,Autosomal dominant spastic paraplegia type 9B | Autosomal dominant spastic paraplegia type 9B (disorder) | autosomal dominant complex spastic paraplegia type 9B
BMGC_DS18762,BMG_DS072035,Autosomal recessive spastic paraplegia type 9B | Autosomal recessive spastic paraplegia type 9B (disorder) | autosomal recessive complex spastic paraplegia type 9B
BMGC_DS18763,BMG_DS072036,Autosomal dominant spastic paraplegia type 73 | Autosomal dominant spastic paraplegia type 73 (disorder) | hereditary spastic paraplegia 73
BMGC_DS18764,BMG_DS072037,Autosomal recessive spastic paraplegia type 77 | Autosomal recessive spastic paraplegia type 77 (disorder) | hereditary spastic paraplegia 77
BMGC_DS18765,BMG_DS072053,"Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation | Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation | Autosomal recessive Charcot-Marie-Tooth disease type 2X | Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) | Charcot-Marie-Tooth disease axonal type 2X"
BMGC_DS18766,BMG_DS072054,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 (MORC family CW-type zinc finger 2) mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | Autosomal dominant Charcot-Marie-Tooth disease type 2Z (disorder) | Charcot-Marie-Tooth disease axonal type 2Z
BMGC_DS18767,BMG_DS072055,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP (valosin containing protein) mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) | Charcot-Marie-Tooth disease type 2Y
BMGC_DS18768,BMG_DS072056,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) | Charcot-Marie-Tooth disease recessive intermediate D
BMGC_DS18769,BMG_DS072057,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation (disorder) | autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
BMGC_DS18770,BMG_DS072058,Severe autosomal recessive macrothrombocytopenia | Severe autosomal recessive macrothrombocytopenia (disorder)
BMGC_DS18771,BMG_DS072059,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU (N-acetyl-alpha-glucosaminidase) mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2V | Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) | Charcot-Marie-Tooth disease axonal type 2V | Hereditary adult onset painful axonal polyneuropathy
BMGC_DS18772,BMG_DS072060,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
BMGC_DS18773,BMG_DS072061,DNAJB2-related Charcot-Marie-Tooth disease type 2 | DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 | DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder)
BMGC_DS18774,BMG_DS072085,COXPD28 - combined oxidative phosphorylation defect type 28 | Combined oxidative phosphorylation defect type 28 | Combined oxidative phosphorylation defect type 28 (disorder) | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect | combined oxidative phosphorylation deficiency 28
BMGC_DS18775,BMG_DS072087,"Macrocephaly, intellectual disability, left ventricular non compaction syndrome | Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)"
BMGC_DS18776,BMG_DS072088,"Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome | Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Autosomal recessive spinocerebellar ataxia type 21 | acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"
BMGC_DS18777,BMG_DS072160,Heterotropia | Heterotropia (disorder) | Strabismus
BMGC_DS18778,BMG_DS072165,VT - ventricular tachycardia | Ventricular tachyarrhythmia | Ventricular tachyarrhythmia (disorder) | Ventricular tachycardia | Ventricular tachycardia (disorder)
BMGC_DS18779,BMG_DS072166,atelosteogenesis
BMGC_DS18780,BMG_DS072167,"Congenital infantile lactic acidosis due to LAD deficiency | Cytochrome-b reductase deficiency | DLD - Dihydrolipoamide dehydrogenase deficiency | Deficiency of diaphorase | Deficiency of dihydrolipoamide dehydrogenase | Deficiency of lipoamide reductase (NADH) | Diaphorase deficiency | Dihydrolipoamide dehydrogenase deficiency | Dihydrolipoamide dehydrogenase deficiency (disorder) | Dihydrolipoyl dehydrogenase deficiency | Lactic acidosis due to LAD deficiency | Lipoamide dehydrogenase deficiency | Maple syrup urine disease with lactic acidosis | Maple syrup urine disease, type III | pyruvate dehydrogenase E3 deficiency"
BMGC_DS18781,BMG_DS072169,"Epileptic Encephalopathy, Early Infantile, 3 | developmental and epileptic encephalopathy, 3"
BMGC_DS18782,BMG_DS072171,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia | anemia, congenital dyserythropoietic, type 1a | congenital dyserythropoietic anemia type Ia"
BMGC_DS18783,BMG_DS072172,"Dominant hereditary sensory neuropathy, type II | Hereditary sensory and autonomic neuropathy type II | Hereditary sensory and autonomic neuropathy type II (disorder) | Hereditary sensory and autonomic neuropathy, type II | Painless whitlow disease | hereditary sensory and autonomic neuropathy type 2"
BMGC_DS18784,BMG_DS072173,Hyaline fibromatosis syndrome | Hyaline fibromatosis syndrome (disorder) | hyaline fibromatosis syndrome
BMGC_DS18785,BMG_DS072174,Infantile systemic hyalinosis | Infantile systemic hyalinosis (disorder) | infantile systemic hyalinosis
BMGC_DS18786,BMG_DS072176,CAKUT2 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 | congenital anomalies of kidney and urinary tract 2
BMGC_DS18787,BMG_DS072177,Adenomyosis | Adenomyosis - uterine endomet. | Endometriosis | Endometriosis (& [adenomyosis]) | Endometriosis (& [adenomyosis]) (disorder) | Endometriosis of uterus | Endometriosis of uterus (disorder) | adenomyosis
BMGC_DS18788,BMG_DS072179,"Encephalomyelitis, Allergic | Encephalomyelitis, Autoimmune, Experimental | experimental autoimmune encephalomyelitis"
BMGC_DS18789,BMG_DS072183,LAL (Lysosomal acid lipase) deficiency | LALD - Lysosomal acid lipase deficiency | Lysosomal acid lipase deficiency | Lysosomal acid lipase deficiency (disorder) | lysosomal acid lipase deficiency
BMGC_DS18790,BMG_DS072185,"Chronic cutaneous lupus erythematosus, unspecified | DLE - Discoid lupus erythematosus | Discoid lupus erythematosus | Discoid lupus erythematosus (disorder) | LE - Discoid lupus erythematosus | discoid lupus erythematosus"
BMGC_DS18791,BMG_DS072186,"Acrosclerosis | Limited cutaneous systemic sclerosis | Systemic sclerosis with limited cutaneous involvement | Systemic sclerosis with limited cutaneous involvement (disorder) | Systemic sclerosis, limited | Systemic sclerosis, limited (disorder)"
BMGC_DS18792,BMG_DS072188,Parkes Weber syndrome | Parkes Weber syndrome (disorder)
BMGC_DS18793,BMG_DS072190,"PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC | phosphoenolpyruvate carboxykinase deficiency, cytosolic"
BMGC_DS18794,BMG_DS072191,preeclampsia/eclampsia 1
BMGC_DS18795,BMG_DS072192,catecholaminergic polymorphic ventricular tachycardia
BMGC_DS18796,BMG_DS072194,Long QT syndrome with syndactyly | Timothy syndrome classic type | Timothy syndrome type 1 | Timothy syndrome type 1 (disorder)
BMGC_DS18797,BMG_DS072195,"Combined D-2-hydroxyglutaric acidaemia and L-2-hydroxyglutaric acidaemia | Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia | Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria | Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) | D,L-2-hydroxyglutaric acidaemia | D,L-2-hydroxyglutaric acidemia | D,L-2-hydroxyglutaric aciduria | combined D-2- and L-2-hydroxyglutaric aciduria"
BMGC_DS18798,BMG_DS072196,"PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY | generalized epilepsy-paroxysmal dyskinesia syndrome | paroxysmal nonkinesigenic dyskinesia 3"
BMGC_DS18799,BMG_DS072197,Congenital disorder of glycosylation type II | congenital disorder of glycosylation type II
BMGC_DS18800,BMG_DS072198,Netherton Syndrome | Netherton syndrome
BMGC_DS18801,BMG_DS072200,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7 | nonsyndromic congenital nail disorder 7"
BMGC_DS18802,BMG_DS072202,HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 24 without anosmia
BMGC_DS18803,BMG_DS072203,Mesomelic dysplasia of upper limb | Mesomelic dysplasia of upper limb (disorder) | upper limb mesomelic dysplasia
BMGC_DS18804,BMG_DS072204,Patterson Stevenson Fontaine syndrome | Patterson Stevenson Fontaine syndrome (disorder) | Patterson-Stevenson-Fontaine syndrome | Split foot deformity with mandibulofacial dysostosis syndrome
BMGC_DS18805,BMG_DS072205,frontorhiny
BMGC_DS18806,BMG_DS072206,malignant Sertoli-Leydig cell tumor of ovary
BMGC_DS18807,BMG_DS072208,synpolydactyly type 1
BMGC_DS18808,BMG_DS072209,IMMUNODEFICIENCY 48 | combined immunodeficiency due to ZAP70 deficiency
BMGC_DS18809,BMG_DS072211,MAGE family member L2-related Prader-Willi-like syndrome | MAGE family member L2-related Prader-Willi-like syndrome (disorder) | MAGEL2-related Prader-Willi-like syndrome | Schaaf Yang syndrome | Schaaf-Yang syndrome
BMGC_DS18810,BMG_DS072212,Corticobasal syndrome | Corticobasal syndrome (disorder) | corticobasal syndrome
BMGC_DS18811,BMG_DS072213,"DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES"
BMGC_DS18812,BMG_DS072215,benign familial infantile epilepsy
BMGC_DS18813,BMG_DS072216,"developmental delay, impaired speech, and behavioral abnormalities, with or without seizures"
BMGC_DS18814,BMG_DS072219,"CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE | craniotubular dysplasia Ikegawa type | craniotubular dysplasia, Ikegawa type"
BMGC_DS18815,BMG_DS072222,autosomal recessive cerebellar ataxia
BMGC_DS18816,BMG_DS072223,"AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 | autoinflammatory syndrome, familial, X-linked, Behcet-like 2"
BMGC_DS18817,BMG_DS072225,Severe primary trimethylaminuria | Severe primary trimethylaminuria (disorder) | severe primary trimethylaminuria
BMGC_DS18818,BMG_DS072226,severe Canavan disease
BMGC_DS18819,BMG_DS072230,"CNTNAP2-related developmental and epileptic encephalopathy | Contactin associated protein 2-related developmental and epileptic encephalopathy | Contactin associated protein 2-related developmental and epileptic encephalopathy (disorder) | Cortical dysplasia, focal epilepsy syndrome"
BMGC_DS18820,BMG_DS072231,"Atypical Timothy syndrome | Atypical Timothy syndrome (disorder) | Atypical long QT syndrome type 8 | Timothy syndrome atypical type | Timothy syndrome, atypical type"
BMGC_DS18821,BMG_DS072248,"diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype"
BMGC_DS18822,BMG_DS072249,infant-type hemispheric glioma
BMGC_DS18823,BMG_DS072250,high-grade astrocytoma with piloid features
BMGC_DS18824,BMG_DS072257,schwannomatosis 1
BMGC_DS18825,BMG_DS072258,schwannomatosis 2
BMGC_DS18826,BMG_DS072263,Autoimmune Diseases of the Nervous System | Autoimmune Encephalitis | autoimmune encephalitis
BMGC_DS18827,BMG_DS072278,"Autosomal dominant limb girdle muscular dystrophy | muscular dystrophy, limb-girdle, autosomal dominant"
BMGC_DS18828,BMG_DS072459,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa | congenital dyserythropoietic anemia type 3"
BMGC_DS18829,BMG_DS072460,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | junctional epidermolysis bullosa with pyloric atresia"
BMGC_DS18830,BMG_DS072461,CAREY-FINEMAN-ZITER SYNDROME 1 | Carey-Fineman-Ziter syndrome | Carey-Fineman-Ziter syndrome 1
BMGC_DS18831,BMG_DS072462,"PULMONARY HYPERTENSION, PRIMARY, 5 | pulmonary hypertension, primary, autosomal recessive"
BMGC_DS18832,BMG_DS072463,RESTRICTIVE DERMOPATHY 1 | restrictive dermopathy 1
BMGC_DS18833,BMG_DS072464,"THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT | thrombophilia, X-linked, due to factor 8 defect"
BMGC_DS18834,BMG_DS072465,"MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED | myopathy, distal, 7, adult-onset, X-linked"
BMGC_DS18835,BMG_DS072466,"intellectual developmental disorder, X-linked, syndromic, Pilorge type"
BMGC_DS18836,BMG_DS072467,"SPERMATOGENIC FAILURE, X-LINKED, 4 | X-linked spermatogenic failure 4 | spermatogenic failure, X-linked, 4"
BMGC_DS18837,BMG_DS072468,"IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED | immunodeficiency 98 with autoinflammation, X-linked"
BMGC_DS18838,BMG_DS072469,SYSTEMIC LUPUS ERYTHEMATOSUS 17 | systemic lupus erythematosus 17
BMGC_DS18839,BMG_DS072470,"AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED | autoinflammatory disease, X-linked"
BMGC_DS18840,BMG_DS072471,IMMUNODEFICIENCY 102 | immunodeficiency 102
BMGC_DS18841,BMG_DS072472,STUVE-WIEDEMANN SYNDROME 1 | Stüve-Wiedemann syndrome 1
BMGC_DS18842,BMG_DS072473,"RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET | retinitis pigmentosa 94, variable age at onset"
BMGC_DS18843,BMG_DS072474,IMMUNODEFICIENCY 104 | immunodeficiency 104
BMGC_DS18844,BMG_DS072475,"thyroid hormone metabolism, abnormal 1"
BMGC_DS18845,BMG_DS072476,"MACROTHROMBOCYTOPENIA, ISOLATED, 1, AUTOSOMAL DOMINANT | macrothrombocytopenia, isolated, 1, autosomal dominant"
BMGC_DS18846,BMG_DS072477,"3-METHYLGLUTACONIC ACIDURIA, TYPE VIIB | 3-methylglutaconic aciduria type 7b | 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | 3-methylglutaconic aciduria, type VIIB"
BMGC_DS18847,BMG_DS072478,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES | autosomal dominant intellectual developmental disorder 40 | intellectual disability, autosomal dominant 40"
BMGC_DS18848,BMG_DS072479,"CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2"
BMGC_DS18849,BMG_DS072480,"intellectual developmental disorder, autosomal dominant 69"
BMGC_DS18850,BMG_DS072481,KNOBLOCH SYNDROME 2 | Knobloch syndrome 2
BMGC_DS18851,BMG_DS072482,"heterotaxy, visceral, 12, autosomal"
BMGC_DS18852,BMG_DS072483,IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY | immunodeficiency 93 and hypertrophic cardiomyopathy
BMGC_DS18853,BMG_DS072484,"AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT | agammaglobulinemia 10 | agammaglobulinemia 10, autosomal dominant"
BMGC_DS18854,BMG_DS072485,GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 | gastrointestinal defects and immunodeficiency syndrome 2
BMGC_DS18855,BMG_DS072486,"intellectual developmental disorder, autosomal recessive 73"
BMGC_DS18856,BMG_DS072487,HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA | hypogonadotropic hypogonadism 26 with or without anosmia
BMGC_DS18857,BMG_DS072488,INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME | intellectual disability and myopathy syndrome
BMGC_DS18858,BMG_DS072489,BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 | Bryant-Li-Bhoj neurodevelopmental syndrome 1
BMGC_DS18859,BMG_DS072490,BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 | Bryant-Li-Bhoj neurodevelopmental syndrome 2
BMGC_DS18860,BMG_DS072491,"DYSTONIA 34, MYOCLONIC | dystonia 34, myoclonic | myoclonic dystonia 34"
BMGC_DS18861,BMG_DS072492,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with or without variable movement or behavioral abnormalities
BMGC_DS18862,BMG_DS072493,INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES | inclusion body myopathy and brain white matter abnormalities
BMGC_DS18863,BMG_DS072494,"SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 86 | spastic paraplegia 86, autosomal recessive"
BMGC_DS18864,BMG_DS072495,TEEBI HYPERTELORISM SYNDROME 2 | Teebi hypertelorism syndrome 2
BMGC_DS18865,BMG_DS072496,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 | combined oxidative phosphorylation deficiency 54
BMGC_DS18866,BMG_DS072497,"PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET | parkinsonism-dystonia 3, childhood-onset"
BMGC_DS18867,BMG_DS072498,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I | Charcot-Marie-Tooth disease, demyelinating, IIA 1I"
BMGC_DS18868,BMG_DS072499,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 | combined oxidative phosphorylation deficiency 55
BMGC_DS18869,BMG_DS072500,NOONAN SYNDROME 14 | Noonan syndrome 14
BMGC_DS18870,BMG_DS072501,"CARDIOMYOPATHY, DILATED, 2F | cardiomyopathy, dilated, 2F | dilated cardiomyopathy 2F"
BMGC_DS18871,BMG_DS072502,IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES | immunodeficiency 94 with autoinflammation and dysmorphic facies
BMGC_DS18872,BMG_DS072503,STUVE-WIEDEMANN SYNDROME 2 | Stuve-Wiedemann syndrome 2
BMGC_DS18873,BMG_DS072504,"HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | hyper-IgE recurrent infection syndrome 4A, autosomal dominant"
BMGC_DS18874,BMG_DS072505,HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA | hypogonadotropic hypogonadism 27 without anosmia
BMGC_DS18875,BMG_DS072506,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 | Tessadori-van Haaften neurodevelopmental syndrome 1
BMGC_DS18876,BMG_DS072507,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 | Tessadori-van Haaften neurodevelopmental syndrome 2
BMGC_DS18877,BMG_DS072508,"CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM | cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism"
BMGC_DS18878,BMG_DS072509,KURY-ISIDOR SYNDROME | Kury-Isidor syndrome
BMGC_DS18879,BMG_DS072510,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H | Charcot-Marie-Tooth disease, demyelinating, IIA 1H"
BMGC_DS18880,BMG_DS072511,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6 | pulmonary fibrosis and/or bone marrow failure, telomere-related, 6"
BMGC_DS18881,BMG_DS072512,"MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN | macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin"
BMGC_DS18882,BMG_DS072513,IMMUNODEFICIENCY 95 | immunodeficiency 95
BMGC_DS18883,BMG_DS072514,IMMUNODEFICIENCY 96 | immunodeficiency 96
BMGC_DS18884,BMG_DS072515,CONGENITAL DISORDER OF DEGLYCOSYLATION 2 | congenital disorder of deglycosylation 2
BMGC_DS18885,BMG_DS072516,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 | developmental and epileptic encephalopathy 100
BMGC_DS18886,BMG_DS072517,MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) | mitochondrial DNA depletion syndrome 20 | mitochondrial DNA depletion syndrome 20 (mngie type)
BMGC_DS18887,BMG_DS072518,"MYOPIA 28, AUTOSOMAL RECESSIVE | myopia 28, autosomal recessive"
BMGC_DS18888,BMG_DS072519,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE | epidermolysis bullosa, junctional 2A, intermediate"
BMGC_DS18889,BMG_DS072520,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE | epidermolysis bullosa, junctional 2B, severe"
BMGC_DS18890,BMG_DS072521,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE | epidermolysis bullosa, junctional 3A, intermediate"
BMGC_DS18891,BMG_DS072522,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE | epidermolysis bullosa, junctional 3B, severe"
BMGC_DS18892,BMG_DS072523,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE | Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive | congenital dyserythropoietic anemia type IIIb"
BMGC_DS18893,BMG_DS072524,OCULOPHARYNGODISTAL MYOPATHY 4 | oculopharyngodistal myopathy 4
BMGC_DS18894,BMG_DS072525,RESTRICTIVE DERMOPATHY 2 | restrictive dermopathy 2
BMGC_DS18895,BMG_DS072526,"OSTEOGENESIS IMPERFECTA, TYPE XXII | osteogenesis imperfecta, IIA 22"
BMGC_DS18896,BMG_DS072527,NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | neurodevelopmental disorder with central hypotonia and dysmorphic facies
BMGC_DS18897,BMG_DS072528,SPERMATOGENIC FAILURE 66 | spermatogenic failure 66
BMGC_DS18898,BMG_DS072529,IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION | immunodeficiency 97 with autoinflammation
BMGC_DS18899,BMG_DS072530,SPERMATOGENIC FAILURE 67 | spermatogenic failure 67
BMGC_DS18900,BMG_DS072531,"DEAFNESS, AUTOSOMAL DOMINANT 82 | autosomal dominant nonsyndromic deafness 82 | hearing loss, autosomal dominant 82"
BMGC_DS18901,BMG_DS072532,SPERMATOGENIC FAILURE 68 | spermatogenic failure 68
BMGC_DS18902,BMG_DS072533,SPINOCEREBELLAR ATAXIA 49 | spinocerebellar ataxia 49
BMGC_DS18903,BMG_DS072534,"DEAFNESS, AUTOSOMAL DOMINANT 83 | autosomal dominant nonsyndromic deafness 83 | hearing loss, autosomal dominant 83"
BMGC_DS18904,BMG_DS072535,"DEAFNESS, AUTOSOMAL DOMINANT 84 | autosomal dominant nonsyndromic deafness 84 | hearing loss, autosomal dominant 84"
BMGC_DS18905,BMG_DS072536,"NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT | neutropenia, severe congenital, 9, autosomal dominant"
BMGC_DS18906,BMG_DS072537,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 | developmental and epileptic encephalopathy 101
BMGC_DS18907,BMG_DS072538,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE | epidermolysis bullosa, junctional 5A, intermediate"
BMGC_DS18908,BMG_DS072539,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA | epidermolysis bullosa, junctional 6, with pyloric atresia"
BMGC_DS18909,BMG_DS072540,"AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE | agammaglobulinemia 8B | agammaglobulinemia 8b, autosomal recessive"
BMGC_DS18910,BMG_DS072541,"AORTIC ANEURYSM, FAMILIAL THORACIC 12 | aortic aneurysm, familial thoracic 12"
BMGC_DS18911,BMG_DS072542,SPERMATOGENIC FAILURE 69 | spermatogenic failure 69
BMGC_DS18912,BMG_DS072543,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY | autosomal recessive intellectual developmental disorder 75 | intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly"
BMGC_DS18913,BMG_DS072544,SPERMATOGENIC FAILURE 70 | spermatogenic failure 70
BMGC_DS18914,BMG_DS072545,SPERMATOGENIC FAILURE 71 | spermatogenic failure 71
BMGC_DS18915,BMG_DS072546,"AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3 | auditory neuropathy, autosomal dominant 3 | autosomal dominant auditory neuropathy 3"
BMGC_DS18916,BMG_DS072547,NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES | neurodevelopmental disorder with neuromuscular and skeletal abnormalities
BMGC_DS18917,BMG_DS072548,OVARIAN DYSGENESIS 10 | ovarian dysgenesis 10
BMGC_DS18918,BMG_DS072549,"3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | 3-methylglutaconic aciduria type 7a | 3-methylglutaconic aciduria, type VIIA"
BMGC_DS18919,BMG_DS072550,"MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT | autosomal dominant isolated macrothrombocytopenia 2 | macrothrombocytopenia, isolated, 2, autosomal dominant"
BMGC_DS18920,BMG_DS072551,INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY | intellectual developmental disorder with or without peripheral neuropathy
BMGC_DS18921,BMG_DS072552,RETINITIS PIGMENTOSA 93 | retinitis pigmentosa 93
BMGC_DS18922,BMG_DS072553,IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS | immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
BMGC_DS18923,BMG_DS072554,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY | neurodegeneration, childhood-onset, with progressive microcephaly"
BMGC_DS18924,BMG_DS072555,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 | cholestasis, progressive familial intrahepatic, 9"
BMGC_DS18925,BMG_DS072556,"LEUKODYSTROPHY, HYPOMYELINATING, 24 | hypomyelinating leukodystrophy 24 | leukodystrophy, hypomyelinating, 24"
BMGC_DS18926,BMG_DS072557,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities"
BMGC_DS18927,BMG_DS072558,"thyroid hormone metabolism, abnormal, 2"
BMGC_DS18928,BMG_DS072559,AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME | autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
BMGC_DS18929,BMG_DS072560,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 | autosomal recessive spinocerebellar ataxia 32 | spinocerebellar ataxia, autosomal recessive 32"
BMGC_DS18930,BMG_DS072561,"LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING | leukodystrophy, childhood-onset, remitting"
BMGC_DS18931,BMG_DS072562,SPERMATOGENIC FAILURE 72 | spermatogenic failure 72
BMGC_DS18932,BMG_DS072563,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 | cholestasis, progressive familial intrahepatic, 10"
BMGC_DS18933,BMG_DS072564,"CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET | corneal dystrophy, punctiform and polychromatic pre-descemet"
BMGC_DS18934,BMG_DS072565,IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) | immunodeficiency 101 (varicella zoster virus-specific)
BMGC_DS18935,BMG_DS072566,PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME | parenti-mignot neurodevelopmental syndrome
BMGC_DS18936,BMG_DS072567,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 | cholestasis, progressive familial intrahepatic, 11"
BMGC_DS18937,BMG_DS072568,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES | neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures"
BMGC_DS18938,BMG_DS072569,DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME | Dentici-Novelli neurodevelopmental syndrome
BMGC_DS18939,BMG_DS072570,SPERMATOGENIC FAILURE 73 | spermatogenic failure 73
BMGC_DS18940,BMG_DS072571,MECKEL SYNDROME 14 | meckel syndrome 14
BMGC_DS18941,BMG_DS072572,NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES | neurodevelopmental disorder with poor growth and skeletal anomalies
BMGC_DS18942,BMG_DS072573,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 | developmental and epileptic encephalopathy 102
BMGC_DS18943,BMG_DS072574,"OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY | osteoporosis, childhood- or juvenile-onset, with developmental delay"
BMGC_DS18944,BMG_DS072575,RENAL HYPODYSPLASIA/APLASIA 4 | renal hypodysplasia/aplasia 4
BMGC_DS18945,BMG_DS072576,HOLOPROSENCEPHALY 14 | holoprosencephaly 14
BMGC_DS18946,BMG_DS072577,"CARDIOMYOPATHY, DILATED, 2G | cardiomyopathy, dilated, 2G | dilated cardiomyopathy 2G"
BMGC_DS18947,BMG_DS072578,HEPATORENOCARDIAC DEGENERATIVE FIBROSIS | hepatorenocardiac degenerative fibrosis
BMGC_DS18948,BMG_DS072579,"PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE | peripheral motor neuropathy, childhood-onset, biotin-responsive"
BMGC_DS18949,BMG_DS072580,NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES | neurodevelopmental disorder with language delay and seizures
BMGC_DS18950,BMG_DS072581,"PONTOCEREBELLAR HYPOPLASIA, TYPE 17 | pontocerebellar hypoplasia, IIA 17"
BMGC_DS18951,BMG_DS072582,"intellectual developmental disorder, autosomal dominant 66"
BMGC_DS18952,BMG_DS072583,INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM | intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
BMGC_DS18953,BMG_DS072584,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 | developmental and epileptic encephalopathy 103
BMGC_DS18954,BMG_DS072585,"DYSTONIA 35, CHILDHOOD-ONSET | dystonia 35, childhood-onset"
BMGC_DS18955,BMG_DS072586,NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES | neurodevelopmental disorder with dystonia and seizures
BMGC_DS18956,BMG_DS072587,IMMUNODEFICIENCY 105 | immunodeficiency 105
BMGC_DS18957,BMG_DS072588,"intellectual developmental disorder, autosomal dominant 67"
BMGC_DS18958,BMG_DS072589,"intellectual developmental disorder, autosomal recessive 76"
BMGC_DS18959,BMG_DS072590,"intellectual developmental disorder, autosomal dominant 68"
BMGC_DS18960,BMG_DS072591,"IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS | immunodeficiency 106, susceptibility to viral infections"
BMGC_DS18961,BMG_DS072592,SPERMATOGENIC FAILURE 74 | spermatogenic failure 74
BMGC_DS18962,BMG_DS072593,PREMATURE OVARIAN FAILURE 20 | premature ovarian failure 20
BMGC_DS18963,BMG_DS072594,CAREY-FINEMAN-ZITER SYNDROME 2 | Carey-Fineman-Ziter syndrome 2
BMGC_DS18964,BMG_DS072595,"WAARDENBURG SYNDROME, TYPE 2F | Waardenburg syndrome, IIa 2F"
BMGC_DS18965,BMG_DS072596,SPERMATOGENIC FAILURE 75 | spermatogenic failure 75
BMGC_DS18966,BMG_DS072598,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 | Tessadori-Van Haaften neurodevelopmental syndrome 4
BMGC_DS18967,BMG_DS072599,DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME | Dworschak-Punetha neurodevelopmental syndrome
BMGC_DS18968,BMG_DS072600,attention deficit-hyperactivity disorder 8
BMGC_DS18969,BMG_DS072601,ACCES SYNDROME | ACCES syndrome
BMGC_DS18970,BMG_DS072602,NEUROCARDIOFACIODIGITAL SYNDROME | neurocardiofaciodigital syndrome
BMGC_DS18971,BMG_DS072603,"CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1"
BMGC_DS18972,BMG_DS072604,CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME | Chilton-Okur-Chung neurodevelopmental syndrome
BMGC_DS18973,BMG_DS072605,CHROMOSOME 2q23.1 DUPLICATION SYNDROME | autosomal dominant intellectual developmental disorder 1
BMGC_DS18974,BMG_DS072606,CHROMOSOME Xq25 TRIPLICATION SYNDROME
BMGC_DS18975,BMG_DS072607,DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME WITH CLEFT LIP AND WITH OR WITHOUT CLEFT PALATE | hereditary diffuse gastric cancer
BMGC_DS18976,BMG_DS072608,"HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE | hypoalphalipoproteinemia, primary, 2, intermediate"
BMGC_DS18977,BMG_DS072619,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb"
BMGC_DS18978,BMG_DS072625,CUBITUS VALGUS WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND UNUSUAL FACIES | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
BMGC_DS18979,BMG_DS072626,CHROMOSOME Xq13 DUPLICATION SYNDROME | chromosome Xq13 duplication syndrome
BMGC_DS18980,BMG_DS072629,isolated congenital growth hormone deficiency
BMGC_DS18981,BMG_DS072630,Mild haemophilia B | Mild hemophilia B | Mild hereditary factor IX deficiency disease | Mild hereditary factor IX deficiency disease (disorder) | mild hemophilia B
BMGC_DS18982,BMG_DS072631,Moderate haemophilia B | Moderate hemophilia B | Moderate hereditary factor IX deficiency disease | Moderate hereditary factor IX deficiency disease (disorder) | moderately severe hemophilia B
BMGC_DS18983,BMG_DS072632,Severe haemophilia B | Severe hemophilia B | Severe hereditary factor IX deficiency disease | Severe hereditary factor IX deficiency disease (disorder) | severe hemophilia B
BMGC_DS18984,BMG_DS072633,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
BMGC_DS18985,BMG_DS072634,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
BMGC_DS18986,BMG_DS072635,T-B+ severe combined immunodeficiency due to CD45 deficiency
BMGC_DS18987,BMG_DS072638,male infertility due to globozoospermia
BMGC_DS18988,BMG_DS072642,Joubert syndrome and related disorders
BMGC_DS18989,BMG_DS072643,"46,XX ovotesticular disorder of sex development | 46,XX ovotesticular disorder of sex development (disorder)"
BMGC_DS18990,BMG_DS072644,autosomal recessive ataxia due to PEX10 deficiency
BMGC_DS18991,BMG_DS072645,APC-related attenuated familial adenomatous polyposis
BMGC_DS18992,BMG_DS072646,acute neonatal citrullinemia type I
BMGC_DS18993,BMG_DS072651,paternal 14q32.2 microdeletion syndrome
BMGC_DS18994,BMG_DS072652,maternal 14q32.2 microdeletion syndrome
BMGC_DS18995,BMG_DS072683,Alagille syndrome due to 20p12 microdeletion
BMGC_DS18996,BMG_DS072684,Mowat-Wilson syndrome due to a ZEB2 point mutation
BMGC_DS18997,BMG_DS072685,Okihiro syndrome due to 20q13 microdeletion
BMGC_DS18998,BMG_DS072686,Okihiro syndrome due to a point mutation
BMGC_DS18999,BMG_DS072692,peeling skin syndrome 1
BMGC_DS19000,BMG_DS072722,isolated focal cortical dysplasia type Ia
BMGC_DS19001,BMG_DS072723,isolated focal cortical dysplasia type IIb
BMGC_DS19002,BMG_DS072725,congenital communicating hydrocephalus
BMGC_DS19003,BMG_DS072726,"Pelizaeus-Merzbacher disease, connatal form"
BMGC_DS19004,BMG_DS072729,"mucopolysaccharidosis type 6, slowly progressing"
BMGC_DS19005,BMG_DS072730,"mucopolysaccharidosis type 6, rapidly progressing"
BMGC_DS19006,BMG_DS072731,syndromic microphthalmia
BMGC_DS19007,BMG_DS072735,qualitative or quantitative defects of dystrophin
BMGC_DS19008,BMG_DS072736,LAMA2-related muscular dystrophy
BMGC_DS19009,BMG_DS072737,caveolinopathy
BMGC_DS19010,BMG_DS072740,familial ovarian cancer
BMGC_DS19011,BMG_DS072741,papillary carcinoma of the corpus uteri
BMGC_DS19012,BMG_DS072744,isolated congenitally uncorrected transposition of the great arteries
BMGC_DS19013,BMG_DS072746,classic pantothenate kinase-associated neurodegeneration
BMGC_DS19014,BMG_DS072747,"Niemann-Pick disease type C, juvenile neurologic onset"
BMGC_DS19015,BMG_DS072748,Bockenheimer syndrome
BMGC_DS19016,BMG_DS072749,"mucopolysaccharidosis type 2, attenuated form"
BMGC_DS19017,BMG_DS072750,Combined immunodeficiency due to DOCK8 deficiency | Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency | Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency (disorder) | Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency | DOCK8 immunodeficiency syndrome
BMGC_DS19018,BMG_DS072752,mitochondrial oxidative phosphorylation disorder
BMGC_DS19019,BMG_DS072754,isolated anophthalmia-microphthalmia syndrome
BMGC_DS19020,BMG_DS072755,Hermansky-Pudlak syndrome without pulmonary fibrosis
BMGC_DS19021,BMG_DS072756,Hermansky-Pudlak syndrome with pulmonary fibrosis
BMGC_DS19022,BMG_DS072761,apolipoprotein A-II amyloidosis
BMGC_DS19023,BMG_DS072762,Autosomal dominant generalised dystrophic epidermolysis bullosa | Autosomal dominant generalized dystrophic epidermolysis bullosa | Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) | DDEB (dominant dystrophic epidermolysis bullosa) intermediate | Generalised DDEB (generalised dystrophic epidermolysis bullosa) | Generalized DDEB (generalized dystrophic epidermolysis bullosa)
BMGC_DS19024,BMG_DS072764,isolated congenital hypogonadotropic hypogonadism
BMGC_DS19025,BMG_DS072765,progressive supranuclear palsy-progressive non-fluent aphasia syndrome
BMGC_DS19026,BMG_DS072766,progressive supranuclear palsy-pure akinesia with gait freezing syndrome
BMGC_DS19027,BMG_DS072768,hemoglobin Lepore-beta-thalassemia syndrome
BMGC_DS19028,BMG_DS072771,acute megakaryoblastic leukemia without down syndrome
BMGC_DS19029,BMG_DS072772,classic congenital lipoid adrenal hyperplasia due to STAR deficency
BMGC_DS19030,BMG_DS072774,ABetaL34V amyloidosis
BMGC_DS19031,BMG_DS072775,classic multiminicore myopathy
BMGC_DS19032,BMG_DS072776,"Multiple paraganglioma associated with erythrocytosis | Multiple paraganglioma associated with polycythaemia | Multiple paraganglioma associated with polycythemia | Multiple paraganglioma associated with polycythemia (disorder) | Paraganglioma, somatostatinoma, polycythaemia syndrome | Paraganglioma, somatostatinoma, polycythemia syndrome | multiple paragangliomas associated with polycythemia"
BMGC_DS19033,BMG_DS072781,"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"
BMGC_DS19034,BMG_DS072782,"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"
BMGC_DS19035,BMG_DS072784,Clonal hypereosinophilic syndrome | HES-N - hypereosinophilic syndrome neoplastic | Neoplastic hypereosinophilic syndrome | Primary HES (hypereosinophilic syndrome) | Primary hypereosinophilic syndrome | Primary hypereosinophilic syndrome (disorder) | primary hypereosinophilic syndrome
BMGC_DS19036,BMG_DS072786,autosomal recessive spastic ataxia
BMGC_DS19037,BMG_DS072788,muscular dystrophy-dystroglycanopathy
BMGC_DS19038,BMG_DS072789,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (disorder) | mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"
BMGC_DS19039,BMG_DS072790,Alexander disease type II | Alexander disease type II (disorder) | AxD (Alexander disease) type II
BMGC_DS19040,BMG_DS072791,Haemolytic uraemic syndrome with DGKE deficiency | Haemolytic uraemic syndrome with diacylglycerol kinase epsilon deficiency | Hemolytic uremic syndrome with DGKE deficiency | Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency | Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder) | atypical hemolytic-uremic syndrome with DGKE deficiency
BMGC_DS19041,BMG_DS072792,"autosomal recessive cutis laxa type 2, classic type"
BMGC_DS19042,BMG_DS072793,minimal pigment oculocutaneous albinism type 1
BMGC_DS19043,BMG_DS072794,neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
BMGC_DS19044,BMG_DS072795,"pyruvate carboxylase deficiency, benign type"
BMGC_DS19045,BMG_DS072796,"pyruvate carboxylase deficiency, infantile form"
BMGC_DS19046,BMG_DS072797,"pyruvate carboxylase deficiency, severe neonatal type"
BMGC_DS19047,BMG_DS072806,familial clubfoot due to PITX1 point mutation
BMGC_DS19048,BMG_DS072807,familial clubfoot due to 5q31 microdeletion
BMGC_DS19049,BMG_DS072808,tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
BMGC_DS19050,BMG_DS072810,4H leucodystrophy | 4H leukodystrophy | 4H leukodystrophy (disorder) | POLR-related leucodystrophy | POLR-related leukodystrophy | POLR3-related leukodystrophy
BMGC_DS19051,BMG_DS072812,pseudoxanthomatous diffuse cutaneous mastocytosis
BMGC_DS19052,BMG_DS072818,methylcobalamin deficiency type cblDv1
BMGC_DS19053,BMG_DS072819,"glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"
BMGC_DS19054,BMG_DS072820,"glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form"
BMGC_DS19055,BMG_DS072821,"alpha-mannosidosis, adult form"
BMGC_DS19056,BMG_DS072825,zygodactyly type 3
BMGC_DS19057,BMG_DS072828,Symptomatic form of classic haemochromatosis | Symptomatic form of classic hemochromatosis | Symptomatic form of haemochromatosis type 1 | Symptomatic form of hemochromatosis type 1 | Symptomatic form of hemochromatosis type 1 (disorder)
BMGC_DS19058,BMG_DS072829,intellectual disability syndrome due to a DYRK1A point mutation
BMGC_DS19059,BMG_DS072831,hereditary neuroendocrine tumor of small intestine
BMGC_DS19060,BMG_DS072832,Congenital absence of pain with severe intellectual disability | Congenital analgesia with severe intellectual disability | Congenital insensitivity to pain with preserved temperature sensation | Congenital insensitivity to pain with severe intellectual disability | Congenital insensitivity to pain with severe intellectual disability (disorder) | Congenital insensitivity to pain with severe non-progressive cognitive delay | congenital insensitivity to pain with severe intellectual disability
BMGC_DS19061,BMG_DS072834,19p13.3 microduplication syndrome | 19p13.3 microduplication syndrome (disorder)
BMGC_DS19062,BMG_DS072841,AXIN2-related attenuated familial adenomatous polyposis
BMGC_DS19063,BMG_DS072843,mild phosphoribosylpyrophosphate synthetase superactivity
BMGC_DS19064,BMG_DS072844,severe phosphoribosylpyrophosphate synthetase superactivity
BMGC_DS19065,BMG_DS072847,adult-onset myasthenia gravis
BMGC_DS19066,BMG_DS072848,"HSD10 disease, infantile type"
BMGC_DS19067,BMG_DS072849,"HSD10 disease, neonatal type"
BMGC_DS19068,BMG_DS072850,"multiple acyl-CoA dehydrogenase deficiency, mild type"
BMGC_DS19069,BMG_DS072851,"multiple acyl-CoA dehydrogenase deficiency, severe neonatal type"
BMGC_DS19070,BMG_DS072857,SIM bHLH transcription factor 1-related Prader-Willi-like syndrome | SIM bHLH transcription factor 1-related Prader-Willi-like syndrome (disorder) | SIM1-related Prader-Willi-like syndrome
BMGC_DS19071,BMG_DS072860,"Intellectual disability, expressive aphasia, facial dysmorphism syndrome | Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Intellectual disability, loss of expressive language, facial dysmorphism syndrome"
BMGC_DS19072,BMG_DS072861,"CID-MIA/early-onset IBD - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease | Combined immunodeficiency, enteropathy spectrum | Combined immunodeficiency, enteropathy spectrum (disorder) | gastrointestinal defects and immunodeficiency syndrome 1"
BMGC_DS19073,BMG_DS072862,PXE-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
BMGC_DS19074,BMG_DS072863,Autosomal recessive primary immunodeficiency with defective spontaneous NK (natural killer) cell cytotoxicity | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (disorder) | CD16 deficiency
BMGC_DS19075,BMG_DS072872,"Autosomal dominant myopia, midfacial retrusion, sensorineural deafness, rhizomelic dysplasia syndrome | Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome | Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) | autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome"
BMGC_DS19076,BMG_DS072873,undetermined early-onset epileptic encephalopathy
BMGC_DS19077,BMG_DS072876,Familial orthostatic tachycardia due to norepinephrine transporter deficiency | Orthostatic intolerance due to NET (norepinephrine transporter) deficiency | POTS (postural orthostatic tachycardia syndrome) due to NET (norepinephrine transporter) deficiency | Postural orthostatic tachycardia syndrome due to NET (norepinephrine transporter) deficiency | Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency | Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency (disorder)
BMGC_DS19078,BMG_DS072881,NF-kappa-B-inducing kinase deficiency | NIK deficiency | Primary immunodeficiency with multifaceted aberrant lymphoid immunity | Primary immunodeficiency with multifaceted aberrant lymphoid immunity (disorder)
BMGC_DS19079,BMG_DS072882,tremor-ataxia-central hypomyelination syndrome
BMGC_DS19080,BMG_DS072888,3-methylglutaconic aciduria type 8 | 3-methylglutaconic aciduria type 8 (disorder)
BMGC_DS19081,BMG_DS072889,9q33.3q34.11 microdeletion syndrome | 9q33.3q34.11 microdeletion syndrome (disorder) | Deletion 9q33.3q34.11 | Monosomy 9q33.3q34.11
BMGC_DS19082,BMG_DS072890,16p13.2 microdeletion syndrome | 16p13.2 microdeletion syndrome (disorder) | Hao-Fountain syndrome due to 16p13.2 microdeletion | Monosomy 16p13.2
BMGC_DS19083,BMG_DS072893,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome | Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome | Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)
BMGC_DS19084,BMG_DS072896,congenital bile acid synthesis defect
BMGC_DS19085,BMG_DS072899,MYO5B-related progressive familial intrahepatic cholestasis
BMGC_DS19086,BMG_DS072901,demyelinating hereditary motor and sensory neuropathy
BMGC_DS19087,BMG_DS072905,Syndromic congenital sodium diarrhea | Syndromic congenital sodium diarrhea (disorder) | Syndromic congenital sodium diarrhoea | Syndromic congenital tufting enteropathy | syndromic congenital sodium diarrhea
BMGC_DS19088,BMG_DS072909,Neutral lipid storage disease with severe cardiovascular involvement | Primary triglyceride deposit cardiomyovasculopathy | Primary triglyceride deposit cardiomyovasculopathy (disorder) | triglyceride deposit cardiomyovasculopathy
BMGC_DS19089,BMG_DS072912,Resistance to thyroid hormone alpha | Resistance to thyroid hormone due to mutation in TRa | Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha | Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha (disorder) | resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
BMGC_DS19090,BMG_DS072913,acute mast cell leukemia
BMGC_DS19091,BMG_DS072914,CARST - congenital autosomal recessive small-platelet thrombocytopenia | Congenital autosomal recessive small-platelet thrombocytopenia | Congenital autosomal recessive small-platelet thrombocytopenia (disorder) | congenital autosomal recessive small-platelet thrombocytopenia
BMGC_DS19092,BMG_DS072915,chronic mast cell leukemia
BMGC_DS19093,BMG_DS072919,AKT serine/threonine kinase 2-related familial partial lipodystrophy | AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder) | AKT2-related familial partial lipodystrophy
BMGC_DS19094,BMG_DS072921,Congenital primary lymphedema of Gordon | Congenital primary lymphedema of Gordon (disorder) | Congenital primary lymphoedema of Gordon | VEGFC-related congenital primary lymphedema | VEGFC-related congenital primary lymphoedema | congenital primary lymphedema of Gordon
BMGC_DS19095,BMG_DS072922,EPHB4-related generalised lymphatic dysplasia with atrial septal defect | EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis | EPHB4-related generalized lymphatic dysplasia with atrial septal defect | EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis | EPHB4-related lymphatic-related hydrops fetalis | Ephrin receptor B4-related lymphatic-related hydrops fetalis | Ephrin receptor B4-related lymphatic-related hydrops fetalis (disorder)
BMGC_DS19096,BMG_DS072923,KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma) | KRT1-related diffuse nonepidermolytic keratoderma | KRT1-related nonepidermolytic palmoplantar keratoderma | Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma | Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder)
BMGC_DS19097,BMG_DS072924,progressive dementia with neuroserpin inclusion bodies
BMGC_DS19098,BMG_DS072925,neurometabolic disorder due to serine deficiency
BMGC_DS19099,BMG_DS072927,Ehlers-Danlos myopathy overlap syndrome | Myopathic EDS (Ehlers-Danlos syndrome) | Myopathic Ehlers-Danlos syndrome | Myopathic Ehlers-Danlos syndrome (disorder)
BMGC_DS19100,BMG_DS072929,PLG-related hereditary angioedema with normal C1inh
BMGC_DS19101,BMG_DS072930,Ulcerative pyoderma gangrenosum | Ulcerative pyoderma gangrenosum (disorder) | classic pyoderma gangrenosum
BMGC_DS19102,BMG_DS072931,vegetative pyoderma gangrenosum
BMGC_DS19103,BMG_DS072933,SYNGAP1-related developmental and epileptic encephalopathy | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder)
BMGC_DS19104,BMG_DS072936,Atypical haemolytic uraemic syndrome with complement gene abnormality | Atypical hemolytic uremic syndrome with complement gene abnormality | Atypical hemolytic uremic syndrome with complement gene abnormality (disorder) | aHUS (atypical haemolytic uraemic syndrome) with complement gene abnormality | aHUS (atypical hemolytic uremic syndrome) with complement gene abnormality | atypical hemolytic uremic syndrome with complement gene abnormality
BMGC_DS19105,BMG_DS072938,early-onset familial hypoaldosteronism
BMGC_DS19106,BMG_DS072940,autosomal dominant intermediate Charcot-Marie-Tooth disease
BMGC_DS19107,BMG_DS072942,"Congenital insensitivity to pain, anosmia, neuropathic arthropathy | Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder) | SCN9A-related congenital insensitivity to pain | Sodium voltage-gated channel alpha subunit 9-related congenital insensitivity to pain"
BMGC_DS19108,BMG_DS072943,autosomal recessive non-syndromic intellectual disability
BMGC_DS19109,BMG_DS072944,Isolated genetic deafness | Isolated genetic hearing loss | Non-syndromic genetic deafness | Non-syndromic genetic hearing loss | Non-syndromic genetic hearing loss (disorder) | nonsyndromic genetic hearing loss
BMGC_DS19110,BMG_DS072945,"Congenital NAD deficiency disorder | Congenital vertebral, cardiac, renal anomalies syndrome | Congenital vertebral, cardiac, renal anomalies syndrome (disorder) | congenital vertebral-cardiac-renal anomalies syndrome"
BMGC_DS19111,BMG_DS072946,17q24.2 microdeletion syndrome | 17q24.2 microdeletion syndrome (disorder)
BMGC_DS19112,BMG_DS072948,X-linked nonsyndromic hearing loss
BMGC_DS19113,BMG_DS072949,Duane retraction syndrome with congenital deafness | Duane retraction syndrome with congenital deafness (disorder) | Duane retraction syndrome with congenital hearing loss
BMGC_DS19114,BMG_DS072952,mild phenylketonuria
BMGC_DS19115,BMG_DS072954,"HSD10 disease, atypical type"
BMGC_DS19116,BMG_DS072955,mild hyperphenylalaninemia
BMGC_DS19117,BMG_DS072957,KLHL7 (kelch like family member 7) related Bohring Opitz-like syndrome | KLHL7-related Bohring Opitz-like syndrome | KLHL7-related Bohring-Opitz-like syndrome | Kelch like family member 7-related Bohring Opitz-like syndrome | Kelch like family member 7-related Bohring Opitz-like syndrome (disorder)
BMGC_DS19118,BMG_DS072958,KLHL7 (kelch like family member 7) related Crisponi/cold-induced sweating-like syndrome | KLHL7-related Crisponi-like syndrome | KLHL7-related Crisponi/cold-induced sweating-like syndrome | KLHL7-related cold-induced sweating-like syndrome | Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome | Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)
BMGC_DS19119,BMG_DS072965,silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
BMGC_DS19120,BMG_DS072966,maternal uniparental disomy of chromosome 14
BMGC_DS19121,BMG_DS072968,paternal uniparental disomy of chromosome 14
BMGC_DS19122,BMG_DS072977,euthyroid dysprealbuminemic hyperthyroxinemia
BMGC_DS19123,BMG_DS072978,KAT6B-related multiple congenital anomalies syndrome
BMGC_DS19124,BMG_DS072979,AFib amyloidosis
BMGC_DS19125,BMG_DS072981,AApoAI amyloidosis
BMGC_DS19126,BMG_DS072982,ALys amyloidosis
BMGC_DS19127,BMG_DS072985,HEMS - hypomyelination of early myelinating structures | Hypomyelination of early myelinating structures | Hypomyelination of early myelinating structures (disorder)
BMGC_DS19128,BMG_DS072991,Combined immunodeficiency due to RELA haploinsufficiency | Combined immunodeficiency due to RELA haploinsufficiency (disorder) | combined immunodeficiency due to RELA haploinsufficiency
BMGC_DS19129,BMG_DS072993,complete atrioventricular canal-ventricle hypoplasia syndrome
BMGC_DS19130,BMG_DS072997,"atrial septal defect, ostium primum type"
BMGC_DS19131,BMG_DS073004,"G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum | G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | GNAO1-related developmental delay, seizures, movement disorder spectrum | GNAO1-related developmental delay-seizures-movement disorder spectrum | GNAO1-related spectrum"
BMGC_DS19132,BMG_DS073005,congenital-onset Steinert myotonic dystrophy
BMGC_DS19133,BMG_DS073006,juvenile-onset Steinert myotonic dystrophy
BMGC_DS19134,BMG_DS073007,childhood-onset Steinert myotonic dystrophy
BMGC_DS19135,BMG_DS073008,late-onset Steinert myotonic dystrophy
BMGC_DS19136,BMG_DS073009,adult-onset Steinert myotonic dystrophy
BMGC_DS19137,BMG_DS073010,"Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"
BMGC_DS19138,BMG_DS073011,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) | RHOA (ras homolog family member A) related mosaic ectodermal dysplasia | RHOA-related mosaic ectodermal dysplasia | linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies"
BMGC_DS19139,BMG_DS073012,B-lymphoblastic leukemia/lymphoma with BCR-ABL1 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
BMGC_DS19140,BMG_DS073013,B-lymphoblastic leukemia/lymphoma with TCF3-PBX1
BMGC_DS19141,BMG_DS073015,Autosomal recessive isolated optic atrophy | Autosomal recessive isolated optic atrophy (disorder) | Autosomal recessive non-syndromic optic atrophy
BMGC_DS19142,BMG_DS073016,neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency
BMGC_DS19143,BMG_DS073019,Angelman syndrome due to paternal uniparental disomy of chromosome 15
BMGC_DS19144,BMG_DS073020,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
BMGC_DS19145,BMG_DS073021,"CARASAL - cathepsin A-related arteriopathy, strokes, leucoencephalopathy | CARASAL - cathepsin A-related arteriopathy, strokes, leukoencephalopathy | Cathepsin A-related arteriopathy, strokes, leucoencephalopathy | Cathepsin A-related arteriopathy, strokes, leukoencephalopathy | Cathepsin A-related arteriopathy, strokes, leukoencephalopathy (disorder) | cathepsin a-related arteriopathy-strokes-leukoencephalopathy"
BMGC_DS19146,BMG_DS073024,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency (disorder) | autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency
BMGC_DS19147,BMG_DS073025,blepharophimosis-ptosis-epicanthus inversus syndrome type 2
BMGC_DS19148,BMG_DS073026,"2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | 2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | OAS1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | OAS1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"
BMGC_DS19149,BMG_DS073027,blepharophimosis-ptosis-epicanthus inversus syndrome type 1
BMGC_DS19150,BMG_DS073036,lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
BMGC_DS19151,BMG_DS073047,non-syndromic non-specific multisutural craniosynostosis
BMGC_DS19152,BMG_DS073061,SBDS-related severe neonatal spondylometaphyseal dysplasia
BMGC_DS19153,BMG_DS073062,immune deficiency due to impaired neutrophil phagocytosis and migration
BMGC_DS19154,BMG_DS073063,SAMD9L-associated autoinflammatory syndrome
BMGC_DS19155,BMG_DS073064,familial hyperinflammatory lymphoproliferative immunodeficiency
BMGC_DS19156,BMG_DS073065,early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
BMGC_DS19157,BMG_DS073066,CADINS disease | CARD11-associated atopy with dominant interference of NF-kB signaling syndrome | Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome | Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder)
BMGC_DS19158,BMG_DS073068,"Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form | Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form (disorder) | Intermediate DEND (developmental delay, epilepsy, neonatal diabetes) syndrome | Intermediate DEND syndrome | intermediate DEND syndrome"
BMGC_DS19159,BMG_DS073072,Severe congenital nemaline myopathy | Severe congenital nemaline myopathy (disorder) | severe congenital nemaline myopathy
BMGC_DS19160,BMG_DS073073,Intermediate nemaline myopathy | Intermediate nemaline myopathy (disorder) | intermediate nemaline myopathy
BMGC_DS19161,BMG_DS073074,Typical nemaline myopathy | Typical nemaline myopathy (disorder) | typical nemaline myopathy
BMGC_DS19162,BMG_DS073080,autosomal dominant non-syndromic intellectual disability
BMGC_DS19163,BMG_DS073082,symptomatic form of hemophilia A in female carriers
BMGC_DS19164,BMG_DS073083,symptomatic form of hemophilia B in female carriers
BMGC_DS19165,BMG_DS073084,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
BMGC_DS19166,BMG_DS073085,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
BMGC_DS19167,BMG_DS073086,Prader-Willi syndrome due to translocation
BMGC_DS19168,BMG_DS073087,Prader-Willi syndrome due to imprinting mutation
BMGC_DS19169,BMG_DS073088,peripheral precocious puberty
BMGC_DS19170,BMG_DS073093,familial isolated hypoparathyroidism due to impaired PTH secretion
BMGC_DS19171,BMG_DS073094,syndromic intellectual disability
BMGC_DS19172,BMG_DS073096,inherited renal tubular disease
BMGC_DS19173,BMG_DS073097,inherited neurodegenerative disorder
BMGC_DS19174,BMG_DS073111,late infantile CACH syndrome
BMGC_DS19175,BMG_DS073112,juvenile or adult CACH syndrome
BMGC_DS19176,BMG_DS073113,congenital or early infantile CACH syndrome
BMGC_DS19177,BMG_DS073120,plaque-form urticaria pigmentosa
BMGC_DS19178,BMG_DS073121,typical urticaria pigmentosa
BMGC_DS19179,BMG_DS073122,nodular urticaria pigmentosa
BMGC_DS19180,BMG_DS073125,De novo thrombotic microangiopathy after kidney transplantation | De novo thrombotic microangiopathy after renal transplant | De novo thrombotic microangiopathy following transplant of kidney | De novo thrombotic microangiopathy following transplant of kidney (disorder)
BMGC_DS19181,BMG_DS073131,maternal 14q32.2 hypermethylation syndrome
BMGC_DS19182,BMG_DS073132,paternal 14q32.2 hypomethylation syndrome
BMGC_DS19183,BMG_DS073133,Kleefstra syndrome due to a point mutation
BMGC_DS19184,BMG_DS073138,Baraitser Winter cerebrofrontofacial syndrome | Baraitser Winter cerebrofrontofacial syndrome (disorder)
BMGC_DS19185,BMG_DS073143,isolated Dandy-Walker malformation without hydrocephalus
BMGC_DS19186,BMG_DS073144,isolated Dandy-Walker malformation with hydrocephalus
BMGC_DS19187,BMG_DS073147,Autosomal semi-dominant severe lipodystrophic laminopathy | Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) | autosomal semi-dominant severe lipodystrophic laminopathy
BMGC_DS19188,BMG_DS073149,Symptomatic form of Coffin-Lowry syndrome in female carrier | Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder) | symptomatic form of Coffin-Lowry syndrome in female carriers
BMGC_DS19189,BMG_DS073152,hereditary inclusion-body myopathy
BMGC_DS19190,BMG_DS073156,qualitative or quantitative defects of delta-sarcoglycan
BMGC_DS19191,BMG_DS073158,qualitative or quantitative defects of alpha-sarcoglycan
BMGC_DS19192,BMG_DS073165,qualitative or quantitative defects of perlecan
BMGC_DS19193,BMG_DS073166,qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
BMGC_DS19194,BMG_DS073168,qualitative or quantitative defects of plectin
BMGC_DS19195,BMG_DS073183,"Niemann-Pick disease type C, severe perinatal form"
BMGC_DS19196,BMG_DS073184,"Niemann-Pick disease type C, late infantile neurologic onset"
BMGC_DS19197,BMG_DS073185,"Niemann-Pick disease type C, severe early infantile neurologic onset"
BMGC_DS19198,BMG_DS073186,"Niemann-Pick disease type C, adult neurologic onset"
BMGC_DS19199,BMG_DS073196,silver-Russell syndrome due to an imprinting defect of 11p15
BMGC_DS19200,BMG_DS073197,silver-Russell syndrome due to 11p15 microduplication
BMGC_DS19201,BMG_DS073198,Beckwith-Wiedemann syndrome due to CDKN1C mutation
BMGC_DS19202,BMG_DS073201,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
BMGC_DS19203,BMG_DS073205,Beckwith-Wiedemann syndrome due to NSD1 mutation
BMGC_DS19204,BMG_DS073210,non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
BMGC_DS19205,BMG_DS073214,null pituitary adenoma
BMGC_DS19206,BMG_DS073216,Koolen-de Vries syndrome due to a point mutation
BMGC_DS19207,BMG_DS073217,TRPV4-related bone disorder
BMGC_DS19208,BMG_DS073218,non-hereditary retinoblastoma
BMGC_DS19209,BMG_DS073227,"glycerol kinase deficiency, adult form"
BMGC_DS19210,BMG_DS073231,"glycerol kinase deficiency, juvenile form"
BMGC_DS19211,BMG_DS073248,inborn aminoacylase deficiency
BMGC_DS19212,BMG_DS073250,intermediate severe Salla disease
BMGC_DS19213,BMG_DS073253,"congenital vertical talus, unilateral"
BMGC_DS19214,BMG_DS073258,Fever-associated acute infantile liver failure syndrome | Fever-associated acute infantile liver failure syndrome (disorder) | infantile liver failure
BMGC_DS19215,BMG_DS073259,familial gastric type 1 neuroendocrine tumor
BMGC_DS19216,BMG_DS073265,Symptomatic form of fragile X syndrome in female carrier | Symptomatic form of fragile X syndrome in female carrier (disorder) | symptomatic form of fragile X syndrome in female carrier
BMGC_DS19217,BMG_DS073267,Isolated focal non-epidermolytic palmoplantar keratoderma | Isolated focal non-epidermolytic palmoplantar keratoderma (disorder)
BMGC_DS19218,BMG_DS073268,"Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome | Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"
BMGC_DS19219,BMG_DS073269,"X-linked intellectual disability, hypotonia, movement disorder syndrome | X-linked intellectual disability, hypotonia, movement disorder syndrome (disorder) | X-linked intellectual disability-hypotonia-movement disorder syndrome"
BMGC_DS19220,BMG_DS073270,"X-linked intellectual disability, short stature, overweight syndrome | X-linked intellectual disability, short stature, overweight syndrome (disorder)"
BMGC_DS19221,BMG_DS073271,"Megalencephaly, severe kyphoscoliosis, overgrowth syndrome | Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder) | megalencephaly-severe kyphoscoliosis-overgrowth syndrome"
BMGC_DS19222,BMG_DS073274,DeSanto-Shinawi syndrome due to WAC point mutation
BMGC_DS19223,BMG_DS073278,Angelman syndrome due to a point mutation
BMGC_DS19224,BMG_DS073280,"Short stature, advanced bone age, early-onset osteoarthritis syndrome | Short stature, advanced bone age, early-onset osteoarthritis syndrome (disorder) | short stature-advanced bone age-early-onset osteoarthritis syndrome"
BMGC_DS19225,BMG_DS073281,"X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome | X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"
BMGC_DS19226,BMG_DS073282,"Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) | severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"
BMGC_DS19227,BMG_DS073283,"Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome (disorder) | intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"
BMGC_DS19228,BMG_DS073284,"Microcephalic primordial dwarfism, insulin resistance syndrome | Microcephalic primordial dwarfism, insulin resistance syndrome (disorder)"
BMGC_DS19229,BMG_DS073285,"Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease | Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease (disorder)"
BMGC_DS19230,BMG_DS073286,PDE4D haploinsufficiency syndrome | Phosphodiesterase 4D haploinsufficiency syndrome | Phosphodiesterase 4D haploinsufficiency syndrome (disorder)
BMGC_DS19231,BMG_DS073289,early-onset posterior subcapsular cataract
BMGC_DS19232,BMG_DS073290,early-onset lamellar cataract
BMGC_DS19233,BMG_DS073293,"Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder)"
BMGC_DS19234,BMG_DS073295,susceptibility to localized juvenile periodontitis
BMGC_DS19235,BMG_DS073297,hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
BMGC_DS19236,BMG_DS073302,Short rib polydactyly syndrome type 5 | Short rib polydactyly syndrome type V | Short rib polydactyly syndrome type V (disorder)
BMGC_DS19237,BMG_DS073303,EMILIN-1-related connective tissue disease | Elastin microfibril interfacer 1 related connective tissue disease | Elastin microfibril interfacer 1 related connective tissue disease (disorder)
BMGC_DS19238,BMG_DS073304,acquired schizencephaly
BMGC_DS19239,BMG_DS073305,Isolated neonatal sclerosing cholangitis | Isolated neonatal sclerosing cholangitis (disorder)
BMGC_DS19240,BMG_DS073307,syndromic constitutional thrombocytopenia
BMGC_DS19241,BMG_DS073309,"Primary hypomagnesaemia, refractory seizures, intellectual disability syndrome | Primary hypomagnesemia, refractory seizures, intellectual disability syndrome | Primary hypomagnesemia, refractory seizures, intellectual disability syndrome (disorder)"
BMGC_DS19242,BMG_DS073327,muscular channelopathy
BMGC_DS19243,BMG_DS073328,multiple congenital anomalies/dysmorphic syndrome
BMGC_DS19244,BMG_DS073331,Pustular pyoderma gangrenosum | Pustular pyoderma gangrenosum (disorder) | pustular pyoderma gangrenosum
BMGC_DS19245,BMG_DS073333,"Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome | Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) | optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"
BMGC_DS19246,BMG_DS073334,"Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome | Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"
BMGC_DS19247,BMG_DS073337,inherited aplastic anemia
BMGC_DS19248,BMG_DS073338,"Early-onset calcifying leucoencephalopathy, skeletal dysplasia | Early-onset calcifying leukoencephalopathy, skeletal dysplasia | Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder) | early-onset calcifying leukoencephalopathy-skeletal dysplasia"
BMGC_DS19249,BMG_DS073339,"Pancreatic agenesis, holoprosencephaly syndrome | Pancreatic agenesis, holoprosencephaly syndrome (disorder) | pancreatic agenesis-holoprosencephaly syndrome"
BMGC_DS19250,BMG_DS073340,"Spastic ataxia, dysarthria due to glutaminase deficiency | Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | spastic ataxia-dysarthria due to glutaminase deficiency"
BMGC_DS19251,BMG_DS073347,non-syndromic syndactyly
BMGC_DS19252,BMG_DS073348,isolated macular dystrophy
BMGC_DS19253,BMG_DS073354,LAMA5-related multisystemic syndrome | Laminin subunit alpha 5-related multisystemic syndrome | Laminin subunit alpha 5-related multisystemic syndrome (disorder)
BMGC_DS19254,BMG_DS073355,"Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome | Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"
BMGC_DS19255,BMG_DS073356,"Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder) | congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"
BMGC_DS19256,BMG_DS073358,"Diaphragmatic hernia, short bowel, asplenia syndrome | Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) | diaphragmatic hernia-short bowel-asplenia syndrome"
BMGC_DS19257,BMG_DS073361,Encephalopathy due to mitochondrial and peroxisomal fission defect | Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) | encephalopathy due to mitochondrial and peroxisomal fission defect
BMGC_DS19258,BMG_DS073366,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)"
BMGC_DS19259,BMG_DS073367,inherited isolated nail anomaly
BMGC_DS19260,BMG_DS073379,infantile epilepsy syndrome
BMGC_DS19261,BMG_DS073382,childhood-onset epilepsy syndrome
BMGC_DS19262,BMG_DS073383,"CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome | CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome | Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome | Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder)"
BMGC_DS19263,BMG_DS073384,"NRXN1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance | Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)"
BMGC_DS19264,BMG_DS073387,renal tubular dysgenesis of genetic origin
BMGC_DS19265,BMG_DS073398,"IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder)"
BMGC_DS19266,BMG_DS073400,"SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome | SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) | SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome | SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome | SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"
BMGC_DS19267,BMG_DS073402,FOXG1 syndrome due to intragenic alteration
BMGC_DS19268,BMG_DS073403,juvenile sialidosis type 2
BMGC_DS19269,BMG_DS073404,congenital sialidosis type 2
BMGC_DS19270,BMG_DS073405,hereditary angioedema with normal C1inh not related to F12 or PLG variant
BMGC_DS19271,BMG_DS073406,FGFR3-related chondrodysplasia
BMGC_DS19272,BMG_DS073408,"X-linked intellectual disability, Sutherland-Haan type"
BMGC_DS19273,BMG_DS073409,"X-linked intellectual disability, Golabi-Ito-hall type"
BMGC_DS19274,BMG_DS073410,hamel cerebro-palato-cardiac syndrome
BMGC_DS19275,BMG_DS073411,"X-linked intellectual disability, Porteous type"
BMGC_DS19276,BMG_DS073412,late-onset nephronophthisis
BMGC_DS19277,BMG_DS073416,Menke Hennekam syndrome | Menke Hennekam syndrome (disorder) | Menke-Hennekam syndrome
BMGC_DS19278,BMG_DS073417,"TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome | Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome (disorder) | Tumour necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome"
BMGC_DS19279,BMG_DS073419,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder | Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder | Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder (disorder)"
BMGC_DS19280,BMG_DS073423,early-onset nuclear cataract
BMGC_DS19281,BMG_DS073428,Noonan syndrome and Noonan-related syndrome
BMGC_DS19282,BMG_DS073442,hereditary peripheral neuropathy
BMGC_DS19283,BMG_DS073443,myopathic intestinal pseudoobstruction
BMGC_DS19284,BMG_DS073448,familial hypofibrinogenemia
BMGC_DS19285,BMG_DS073456,lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
BMGC_DS19286,BMG_DS073459,EGF-related primary hypomagnesemia with intellectual disability
BMGC_DS19287,BMG_DS073460,primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
BMGC_DS19288,BMG_DS073461,F12-associated cold autoinflammatory syndrome
BMGC_DS19289,BMG_DS073462,"Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome | Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder) | developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome"
BMGC_DS19290,BMG_DS073464,Angelman syndrome due to imprinting defect in 15q11-q13
BMGC_DS19291,BMG_DS073465,inborn disorder of cobalamin metabolism and transport
BMGC_DS19292,BMG_DS073467,CELSR1-related late-onset primary lymphedema | CELSR1-related late-onset primary lymphoedema | Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema | Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) | Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphoedema
BMGC_DS19293,BMG_DS073530,ALS1 AR - amyotrophic lateral sclerosis type 1 autosomal recessive | Autosomal recessive ALS (amyotrophic lateral sclerosis) type 1 | Autosomal recessive amyotrophic lateral sclerosis type 1 | Autosomal recessive amyotrophic lateral sclerosis type 1 (disorder)
BMGC_DS19294,BMG_DS073876,"X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"
BMGC_DS19295,BMG_DS073916,CARP - chronic antibiotic-refractory pouchitis | Chronic antibiotic-refractory ileal pouchitis | Chronic antibiotic-refractory ileal pouchitis (disorder) | Chronic antibiotic-refractory pouchitis
BMGC_DS19296,BMG_DS073917,Familial chilblain lupus erythematosus | Familial chilblain lupus erythematosus (disorder) | familial chilblain lupus
BMGC_DS19297,BMG_DS073918,Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
BMGC_DS19298,BMG_DS073963,Lethal brain and heart developmental defects syndrome | Lethal brain and heart developmental defects syndrome (disorder)
BMGC_DS19299,BMG_DS074056,Chronic Kidney Diseases of Uncertain Etiology
BMGC_DS19300,BMG_DS074061,Cytomegalovirus Infections | Perinatal Cytomegalovirus Infection
BMGC_DS19301,BMG_DS074062,Childhood Idiopathic Nephrotic Syndrome | Nephrotic Syndrome
BMGC_DS19302,BMG_DS074063,"Complement 3 Glomerulopathies | Glomerulonephritis, Membranoproliferative"
BMGC_DS19303,BMG_DS074087,Bronchiectasis | Varicose Bronchiectasis
BMGC_DS19304,BMG_DS074088,Cardiovascular Diseases | Major Adverse Cardiac Events
BMGC_DS19305,BMG_DS074091,Dental Enamel Erosion | Tooth Erosion
BMGC_DS19306,BMG_DS074094,"cardiomyopathy, dilated, 1b | dilated cardiomyopathy 1B"
BMGC_DS19307,BMG_DS074096,Acid Maltase Deficiency | Glycogen Storage Disease Type II
BMGC_DS19308,BMG_DS074097,"Localised junctional epidermolysis bullosa non-Herlitz type | Localised non-Herlitz junctional epidermolysis bullosa | Localized junctional epidermolysis bullosa non-Herlitz type | Localized junctional epidermolysis bullosa non-Herlitz type (disorder) | Localized non-Herlitz junctional epidermolysis bullosa | localized junctional epidermolysis bullosa, non-Herlitz type"
BMGC_DS19309,BMG_DS074098,"Autosomal recessive axonal neuropathy with neuromyotonia | Autosomal recessive axonal neuropathy with neuromyotonia (disorder) | Autosomal recessive neuromyotonia with axonal neuropathy | Gamstorp-Wohlfart syndrome | Myokymia, myotonia and muscle wasting"
BMGC_DS19310,BMG_DS074103,"Short stature, developmental delay, congenital heart defect syndrome | Short stature, developmental delay, congenital heart defect syndrome (disorder) | TKT (transketolase) deficiency | transketolase deficiency"
BMGC_DS19311,BMG_DS074107,"Segawa syndrome, autosomal recessive | tyrosine hydroxylase deficiency"
BMGC_DS19312,BMG_DS074108,"MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | mitochondrial complex II deficiency, nuclear type 1"
BMGC_DS19313,BMG_DS074110,"PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET | classic dopamine transporter deficiency syndrome"
BMGC_DS19314,BMG_DS074112,Carnosinase Deficiency | homocarnosinosis
BMGC_DS19315,BMG_DS074113,Exercise-induced malignant hyperthermia | Exercise-induced malignant hyperthermia (disorder) | exercise-induced malignant hyperthermia
BMGC_DS19316,BMG_DS074116,"Platyspondylic Lethal Skeletal Dysplasia, Luton Type"
BMGC_DS19317,BMG_DS074117,"iron overload, susceptibility to"
BMGC_DS19318,BMG_DS074118,Hereditary von Willebrand disease | Hereditary von Willebrand disease (disorder) | hereditary von Willebrand disease
BMGC_DS19319,BMG_DS074121,"Asthma, Aspirin-Induced | NSAID-Exacerbated Respiratory Disease"
BMGC_DS19320,BMG_DS074407,Generalised inflammatory peeling skin syndrome | Generalized inflammatory peeling skin syndrome | Generalized inflammatory peeling skin syndrome (disorder) | peeling skin syndrome 1
BMGC_DS19321,BMG_DS074640,"CARDIAC VALVULAR DYSPLASIA 1 | cardiac valvular defect, developmental | developmental cardiac valvular defect"
BMGC_DS19322,BMG_DS074641,"PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE | pseudohypoaldosteronism, type IB1, autosomal recessive"
BMGC_DS19323,BMG_DS074642,"EPILEPSY, X-LINKED 1, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS | epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"
BMGC_DS19324,BMG_DS074643,"EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES | epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features"
BMGC_DS19325,BMG_DS074644,"HIJAZI-REIS SYNDROME | neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked"
BMGC_DS19326,BMG_DS074645,"intellectual developmental disorder, X-linked 110"
BMGC_DS19327,BMG_DS074646,"MICROPHTHALMIA, SYNDROMIC 16 | isolated microphthalmia 3"
BMGC_DS19328,BMG_DS074647,"SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 87 | spastic paraplegia 87, autosomal recessive"
BMGC_DS19329,BMG_DS074648,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 | developmental and epileptic encephalopathy 104
BMGC_DS19330,BMG_DS074649,NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY | neurodevelopmental disorder with epilepsy and brain atrophy
BMGC_DS19331,BMG_DS074650,"NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY | neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy"
BMGC_DS19332,BMG_DS074651,TUMOR PREDISPOSITION SYNDROME 2 | tumor predisposition syndrome 2
BMGC_DS19333,BMG_DS074652,"MACULAR DYSTROPHY, RETINAL, 4 | macular dystrophy, retinal, 4 | retinal macular dystrophy 4"
BMGC_DS19334,BMG_DS074653,BRADDOCK-CAREY SYNDROME 1 | Braddock-Carey syndrome 1
BMGC_DS19335,BMG_DS074654,BRADDOCK-CAREY SYNDROME 2 | braddock-carey syndrome 2
BMGC_DS19336,BMG_DS074655,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM | developmental and epileptic encephalopathy 105 | developmental and epileptic encephalopathy 105 with hypopituitarism
BMGC_DS19337,BMG_DS074656,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25 | glycosylphosphatidylinositol biosynthesis defect 25
BMGC_DS19338,BMG_DS074657,"IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION | immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection"
BMGC_DS19339,BMG_DS074658,"intellectual developmental disorder, autosomal recessive 77"
BMGC_DS19340,BMG_DS074659,NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES | neurodevelopmental disorder with speech delay and variable ocular anomalies
BMGC_DS19341,BMG_DS074660,"LIVER DISEASE, SEVERE CONGENITAL | liver disease, severe congenital"
BMGC_DS19342,BMG_DS074661,"NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES | neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies"
BMGC_DS19343,BMG_DS074662,"NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES | neurodevelopmental disorder with spasticity, seizures, and brain abnormalities"
BMGC_DS19344,BMG_DS074663,PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME | primordial dwarfism-immunodeficiency-lipodystrophy syndrome
BMGC_DS19345,BMG_DS074664,INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS | intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
BMGC_DS19346,BMG_DS074665,"KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE | keratoderma-ichthyosis-deafness syndrome, autosomal recessive"
BMGC_DS19347,BMG_DS074666,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 | autosomal recessive distal hereditary motor neuronopathy 6 | spinal muscular atrophy, distal, autosomal recessive, 6"
BMGC_DS19348,BMG_DS074667,"DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE | developmental delay, hypotonia, and impaired language"
BMGC_DS19349,BMG_DS074668,LYMPHATIC MALFORMATION 12 | lymphatic malformation 12
BMGC_DS19350,BMG_DS074669,"ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4 | advance sleep phase syndrome, familial, 4 | advanced sleep phase syndrome 4"
BMGC_DS19351,BMG_DS074670,"ARTHROGRYPOSIS, DISTAL, TYPE 11 | arthrogryposis, distal, IIa 11"
BMGC_DS19352,BMG_DS074671,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES | intellectual developmental disorder with autism and dysmorphic facies
BMGC_DS19353,BMG_DS074672,"STICKLER SYNDROME, TYPE VI | stickler syndrome, IIa 6"
BMGC_DS19354,BMG_DS074673,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES | neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures"
BMGC_DS19355,BMG_DS074674,"NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES | neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities"
BMGC_DS19356,BMG_DS074675,"DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS | diaphragmatic hernia 4, with cardiovascular defects"
BMGC_DS19357,BMG_DS074676,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY | neurodevelopmental disorder with microcephaly, short stature, and speech delay"
BMGC_DS19358,BMG_DS074677,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 | developmental and epileptic encephalopathy 106
BMGC_DS19359,BMG_DS074678,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures"
BMGC_DS19360,BMG_DS074679,"CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS | ciliary dyskinesia, primary, 48, without situs inversus"
BMGC_DS19361,BMG_DS074680,developmental and epileptic encephalopathy 107
BMGC_DS19362,BMG_DS074681,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE | neurodevelopmental disorder with microcephaly, hypotonia, and absent language"
BMGC_DS19363,BMG_DS074682,"DYSKERATOSIS CONGENITA, DIGENIC | digenic dyskeratosis congenita | dyskeratosis congenita, digenic"
BMGC_DS19364,BMG_DS074683,BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME | bone marrow failure and diabetes mellitus syndrome
BMGC_DS19365,BMG_DS074684,INTESTINAL DYSMOTILITY SYNDROME | intestinal dysmotility syndrome
BMGC_DS19366,BMG_DS074685,"MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 29, primary, autosomal recessive"
BMGC_DS19367,BMG_DS074686,"NEPHROTIC SYNDROME, TYPE 26 | nephrotic syndrome, IIa 26"
BMGC_DS19368,BMG_DS074687,POLYCYSTIC KIDNEY DISEASE 7 | polycystic kidney disease 7
BMGC_DS19369,BMG_DS074688,"DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 | developmental delay with short stature, dysmorphic facial features, and sparse hair 2 | diphthamide deficiency syndrome 2"
BMGC_DS19370,BMG_DS074689,"DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS | developmental delay, behavioral abnormalities, and neuropsychiatric disorders"
BMGC_DS19371,BMG_DS074690,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT | neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment"
BMGC_DS19372,BMG_DS074691,CARDIAC VALVULAR DYSPLASIA 2 | cardiac valvular dysplasia 2
BMGC_DS19373,BMG_DS074692,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II | Charcot-Marie-Tooth disease, axonal, IIa 2II"
BMGC_DS19374,BMG_DS074693,"NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"
BMGC_DS19375,BMG_DS074694,"BIRK-AHARONI SYNDROME | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss"
BMGC_DS19376,BMG_DS074695,DIAMOND-BLACKFAN ANEMIA 21 | Diamond-Blackfan anemia 21
BMGC_DS19377,BMG_DS074696,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES | neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
BMGC_DS19378,BMG_DS074697,"NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY | neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly"
BMGC_DS19379,BMG_DS074698,BENT BONE DYSPLASIA SYNDROME 2 | bent bone dysplasia syndrome 2
BMGC_DS19380,BMG_DS074699,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10 | autosomal dominant distal hereditary motor neuronopathy 10 | neuronopathy, distal hereditary motor, autosomal dominant 10"
BMGC_DS19381,BMG_DS074700,NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS | neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
BMGC_DS19382,BMG_DS074701,SPERMATOGENIC FAILURE 76 | spermatogenic failure 76
BMGC_DS19383,BMG_DS074702,HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 | hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
BMGC_DS19384,BMG_DS074703,INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES | intellectual developmental disorder with ocular anomalies and distinctive facial features
BMGC_DS19385,BMG_DS074704,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION | neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction"
BMGC_DS19386,BMG_DS074705,NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA | neurodevelopmental disorder with eye movement abnormalities and ataxia
BMGC_DS19387,BMG_DS074706,DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES | developmental delay with variable intellectual disability and dysmorphic facies
BMGC_DS19388,BMG_DS074707,CLEIDOCRANIAL DYSPLASIA 2 | cleidocranial dysplasia 2
BMGC_DS19389,BMG_DS074708,RETINITIS PIGMENTOSA 95 | retinitis pigmentosa 95
BMGC_DS19390,BMG_DS074709,SPERMATOGENIC FAILURE 77 | spermatogenic failure 77
BMGC_DS19391,BMG_DS074710,"AMELOGENESIS IMPERFECTA, TYPE IK | amelogenesis imperfecta type 1K | amelogenesis imperfecta, IIa 1K"
BMGC_DS19392,BMG_DS074711,"SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT | hereditary spastic paraplegia 88 | spastic paraplegia 88, autosomal dominant"
BMGC_DS19393,BMG_DS074712,OROFACIODIGITAL SYNDROME XIX | orofaciodigital syndrome 19 | orofaciodigital syndrome XIX
BMGC_DS19394,BMG_DS074713,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J | Charcot-Marie-Tooth disease, demyelinating, type 1J"
BMGC_DS19395,BMG_DS074714,"NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES | neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities"
BMGC_DS19396,BMG_DS074715,NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with speech impairment and with or without seizures
BMGC_DS19397,BMG_DS074716,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 | developmental and epileptic encephalopathy 108
BMGC_DS19398,BMG_DS074717,"PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE | pseudohypoaldosteronism, type IB2, autosomal recessive"
BMGC_DS19399,BMG_DS074718,"PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE | pseudohypoaldosteronism, type IB3, autosomal recessive"
BMGC_DS19400,BMG_DS074719,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 | dyskeratosis congenita, autosomal recessive 8"
BMGC_DS19401,BMG_DS074720,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 | mitochondrial complex I deficiency, nuclear type 39"
BMGC_DS19402,BMG_DS074721,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 | mitochondrial complex 3 deficiency, nuclear type 11"
BMGC_DS19403,BMG_DS074722,"MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis"
BMGC_DS19404,BMG_DS074723,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 | combined oxidative phosphorylation deficiency 56
BMGC_DS19405,BMG_DS074724,"DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES | developmental delay, language impairment, and ocular abnormalities"
BMGC_DS19406,BMG_DS074725,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 | developmental and epileptic encephalopathy 109
BMGC_DS19407,BMG_DS074726,"ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 | ichthyosis, annular epidermolytic, 2"
BMGC_DS19408,BMG_DS074727,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 | developmental and epileptic encephalopathy 110
BMGC_DS19409,BMG_DS074728,"HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY | hypomagnesemia 7, renal, with or without dilated cardiomyopathy | renal hypomagnesemia 7, with or without dilated cardiomyopathy"
BMGC_DS19410,BMG_DS074729,MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4 | mosaic variegated aneuploidy syndrome 4
BMGC_DS19411,BMG_DS074730,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13 | oocyte maturation defect 13
BMGC_DS19412,BMG_DS074731,RABIN-PAPPAS SYNDROME | Rabin-Pappas syndrome
BMGC_DS19413,BMG_DS074732,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 | cortical dysplasia, complex, with other brain malformations 11"
BMGC_DS19414,BMG_DS074733,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 | intellectual developmental disorder, autosomal dominant 70"
BMGC_DS19415,BMG_DS074734,SPINOCEREBELLAR ATAXIA 50 | spinocerebellar ataxia 50
BMGC_DS19416,BMG_DS074735,CONGENITAL MYOPATHY 15 | congenital myopathy 15
BMGC_DS19417,BMG_DS074736,"MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES | muscular dystrophy, congenital, with or without seizures"
BMGC_DS19418,BMG_DS074737,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 | combined oxidative phosphorylation deficiency 57
BMGC_DS19419,BMG_DS074738,SPERMATOGENIC FAILURE 78 | spermatogenic failure 78
BMGC_DS19420,BMG_DS074739,"TOOTH AGENESIS, SELECTIVE, 10 | tooth agenesis, selective, 10"
BMGC_DS19421,BMG_DS074740,"SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET | spinocerebellar ataxia 27B, late-onset"
BMGC_DS19422,BMG_DS074741,HYPOTRICHOSIS 15 | hypotrichosis 15
BMGC_DS19423,BMG_DS074742,"MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE | microcephaly 30, primary, autosomal recessive"
BMGC_DS19424,BMG_DS074743,ATELIS SYNDROME 1 | Atelis syndrome 1
BMGC_DS19425,BMG_DS074744,ATELIS SYNDROME 2 | Atelis syndrome 2
BMGC_DS19426,BMG_DS074745,"BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME | obsolete branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome"
BMGC_DS19427,BMG_DS074746,MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION | mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
BMGC_DS19428,BMG_DS074747,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES | neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities"
BMGC_DS19429,BMG_DS074748,LACRIMOAURICULODENTODIGITAL SYNDROME 2 | lacrimoauriculodentodigital syndrome 2
BMGC_DS19430,BMG_DS074749,LACRIMOAURICULODENTODIGITAL SYNDROME 3 | lacrimoauriculodentodigital syndrome 3
BMGC_DS19431,BMG_DS074750,"NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES | neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies"
BMGC_DS19432,BMG_DS074751,OBESITY AND HYPOPIGMENTATION | obesity and hypopigmentation
BMGC_DS19433,BMG_DS074752,SPERMATOGENIC FAILURE 79 | spermatogenic failure 79
BMGC_DS19434,BMG_DS074753,"CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS | ciliary dyskinesia, primary, 49, without situs inversus"
BMGC_DS19435,BMG_DS074754,"THYROID HORMONE METABOLISM, ABNORMAL, 3 | thyroid hormone metabolism, abnormal, 3"
BMGC_DS19436,BMG_DS074755,INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES | inflammatory poikiloderma with hair abnormalities and acral keratoses
BMGC_DS19437,BMG_DS074756,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy | congenital disorder of glycosylation, type IIy"
BMGC_DS19438,BMG_DS074757,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz | congenital disorder of glycosylation, type IIz"
BMGC_DS19439,BMG_DS074758,"CARDIOMYOPATHY, DILATED, 2H | cardiomyopathy, dilated, 2H"
BMGC_DS19440,BMG_DS074759,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 | autosomal recessive spinocerebellar ataxia 33 | spinocerebellar ataxia, autosomal recessive 33"
BMGC_DS19441,BMG_DS074760,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA | neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
BMGC_DS19442,BMG_DS074761,"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 | familial hyperinsulinemic hypoglycemia 8 | hyperinsulinemic hypoglycemia, familial, 8"
BMGC_DS19443,BMG_DS074762,"SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA | hereditary spastic paraplegia 79A | spastic paraplegia 79A, autosomal dominant, with ataxia"
BMGC_DS19444,BMG_DS074763,SPERMATOGENIC FAILURE 80 | spermatogenic failure 80
BMGC_DS19445,BMG_DS074764,"DEAFNESS, AUTOSOMAL DOMINANT 85 | autosomal dominant nonsyndromic deafness 85 | hearing loss, autosomal dominant 85"
BMGC_DS19446,BMG_DS074765,RETINITIS PIGMENTOSA 96 | retinitis pigmentosa 96
BMGC_DS19447,BMG_DS074766,SHORT QT SYNDROME 7 | short QT syndrome 7
BMGC_DS19448,BMG_DS074767,"JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA | joint contractures, osteochondromas, and B-cell lymphoma"
BMGC_DS19449,BMG_DS074768,"RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA | respiratory infections, recurrent, and failure to thrive with or without diarrhea"
BMGC_DS19450,BMG_DS074769,"rhabdomyolysis, susceptibility to, 1"
BMGC_DS19451,BMG_DS074770,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES | cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies"
BMGC_DS19452,BMG_DS074771,"DEAFNESS, AUTOSOMAL RECESSIVE 120 | hearing loss, autosomal recessive 120"
BMGC_DS19453,BMG_DS074772,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 | Tessadori-Van Haaften neurodevelopmental syndrome 3
BMGC_DS19454,BMG_DS074773,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 | cholestasis, progressive familial intrahepatic, 12"
BMGC_DS19455,BMG_DS074774,"CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY"
BMGC_DS19456,BMG_DS074775,"CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, DENTAL ANOMALIES ONLY"
BMGC_DS19457,BMG_DS074776,MEDULLOBLASTOMA PREDISPOSITION SYNDROME
BMGC_DS19458,BMG_DS074777,FAMILIAL APOLIPOPROTEIN GENE CLUSTER DELETION SYNDROME | familial apolipoprotein gene cluster deletion syndrome
BMGC_DS19459,BMG_DS074780,LADD SYNDROME 1 | LADD syndrome 1
BMGC_DS19460,BMG_DS074819,"Genetic torsion dystonia | Idiopathic familial dystonia | Idiopathic familial dystonia (disorder) | Primary dystonia, unspecified | X-linked dystonia-parkinsonism | dopa-responsive dystonia | dystonia 21 | dystonia 25 | dystonia 27 | myoclonic dystonia 11 | torsion dystonia 1 | torsion dystonia 13 | torsion dystonia 17 | torsion dystonia 2 | torsion dystonia 4 | torsion dystonia 6"
BMGC_DS19461,BMG_DS074821,autosomal dominant nonsyndromic hearing loss
BMGC_DS19462,BMG_DS074823,Familial isolated retinal arterial tortuosity | Familial isolated retinal arterial tortuosity (disorder) | Retinal arteriolar tortuosity | Retinal haemorrhage with vascular tortuosity | Retinal hemorrhage with vascular tortuosity | Tortuosity of retinal arteries
BMGC_DS19463,BMG_DS074826,"Alzheimer's disease with early onset | Dementia in Alzheimer's disease - type 2 | Dementia in Alzheimer's disease with early onset | Dementia of the Alzheimers type with early onset | Presenile dementia, Alzheimer's type | Primary degenerative dementia of the Alzheimer type, early onset | Primary degenerative dementia of the Alzheimer type, presenile onset | Primary degenerative dementia of the Alzheimer type, presenile onset (disorder)"
BMGC_DS19464,BMG_DS074829,AMC - arthrogryposis multiplex congenita | Arthrogryposis | Arthrogryposis (& [multiplex congenita]) | Arthrogryposis (& [multiplex congenita]) (disorder) | Arthrogryposis (disorder) | Arthrogryposis multiplex congenita | Arthrogryposis multiplex congenita (disorder) | Arthrogryposis multiplex congenita. | Multiple congenital arthrogryposis | arthrogryposis multiplex congenita
BMGC_DS19465,BMG_DS074831,RETINITIS PIGMENTOSA-DEAFNESS SYNDROME | retinitis pigmentosa-deafness syndrome
BMGC_DS19466,BMG_DS074832,FMNG - familial multinodular goiter | FMNG - familial multinodular goitre | Familial multinodular goiter | Familial multinodular goiter syndrome | Familial multinodular goiter syndrome (disorder) | Familial multinodular goitre | Familial multinodular goitre syndrome
BMGC_DS19467,BMG_DS074834,Breaking out - eruption | Eruption | Eruption of skin | Eruption of skin (disorder) | Exanthem | Rash | Skin eruption | Skin rash
BMGC_DS19468,BMG_DS074836,"NEPHROLITHIASIS, CALCIUM OXALATE, 1 | calcium oxalate nephrolithiasis | nephrolithiasis susceptibility caused by SLC26A1"
BMGC_DS19469,BMG_DS074837,LCAT (lecithin-cholesterol acyltransferase) deficiency | LCAT deficiency | Lecithin cholesterol acyltransferase deficiency | Lecithin cholesterol acyltransferase deficiency (disorder)
BMGC_DS19470,BMG_DS074838,neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
BMGC_DS19471,BMG_DS074840,"RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 1 | ariboflavinosis"
BMGC_DS19472,BMG_DS074841,"Liver Failure, Acute | Liver Failure, Fulminant"
BMGC_DS19473,BMG_DS074845,Bannwarth syndrome | Bannwarth syndrome (disorder) | Garin-Bujadoux-Bannwarth syndrome | Lyme borreliosis | Lyme disease | Lyme disease (disorder) | Steere's disease | Tick-borne meningopolyneuritis
BMGC_DS19474,BMG_DS074846,"CRASH syndrome | Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) | L1 syndrome"
BMGC_DS19475,BMG_DS074847,X-linked complicated spastic paraplegia type 1
BMGC_DS19476,BMG_DS074850,CARPAL TUNNEL SYNDROME 1 | carpal tunnel syndrome 1
BMGC_DS19477,BMG_DS074856,"COX deficiency, benign infantile mitochondrial myopathy | Isolated COX (cytochrome C oxidase) deficiency | Isolated cytochrome C oxidase deficiency | Isolated cytochrome C oxidase deficiency (disorder) | Isolated mitochondrial respiratory chain complex IV deficiency"
BMGC_DS19478,BMG_DS074857,"USHER SYNDROME, TYPE IIIA | Usher syndrome type 3A"
BMGC_DS19479,BMG_DS074860,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 | megalencephalic leukoencephalopathy with subcortical cysts 1
BMGC_DS19480,BMG_DS074861,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 | frontotemporal dementia and/or amyotrophic lateral sclerosis 1
BMGC_DS19481,BMG_DS074862,Triphalangeal thumb and polysyndactyly syndrome | Triphalangeal thumb and polysyndactyly syndrome (disorder) | triphalangeal thumb-polysyndactyly syndrome
BMGC_DS19482,BMG_DS074866,COMPLEMENT COMPONENT 4B DEFICIENCY
BMGC_DS19483,BMG_DS074867,DEE - developmental and epileptic encephalopathy | Developmental and epileptic encephalopathy | Developmental and epileptic encephalopathy (disorder)
BMGC_DS19484,BMG_DS074870,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1 | leukoencephalopathy with vanishing white matter 1
BMGC_DS19485,BMG_DS074871,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 | leukoencephalopathy with vanishing white matter 5
BMGC_DS19486,BMG_DS074873,"IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease | Infantile multisystem neurologic, endocrine, pancreatic disease | Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)"
BMGC_DS19487,BMG_DS074874,CCMCO - congenital cataract microcornea with corneal opacity | Congenital cataract microcornea with corneal opacity | Congenital cataract microcornea with corneal opacity (disorder)
BMGC_DS19488,BMG_DS074875,HOUGE-JANSSENS SYNDROME 1 | Hogue-Janssens syndrome 1 | autosomal dominant intellectual developmental disorder 35
BMGC_DS19489,BMG_DS074876,"Craniosynostosis, microretrognathia, severe intellectual disability syndrome | Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder)"
BMGC_DS19490,BMG_DS074877,autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
BMGC_DS19491,BMG_DS074879,"Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome | Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome (disorder)"
BMGC_DS19492,BMG_DS074884,Classic Refsum Disease | Refsum Disease
BMGC_DS19493,BMG_DS074885,Adult Refsum Disease | Refsum Disease
BMGC_DS19494,BMG_DS074887,Hereditary Motor And Sensory Neuropathy IV | Refsum Disease
BMGC_DS19495,BMG_DS074893,craniofacial microsomia 2
BMGC_DS19496,BMG_DS074895,EPIDERMOLYTIC HYPERKERATOSIS 1 | epidermolytic hyperkeratosis 1
BMGC_DS19497,BMG_DS074896,Phytanic Acid Oxidase Deficiency | Refsum Disease
BMGC_DS19498,BMG_DS074899,Heredopathia Atactica Polyneuritiformis | Refsum Disease
BMGC_DS19499,BMG_DS075112,intermediate collagen VI-related muscular dystrophy
BMGC_DS19500,BMG_DS075113,"CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome | CDK13-related disorder | Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome | Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder)"
BMGC_DS19501,BMG_DS075144,Hao-Fountain syndrome due to USP7 mutation
BMGC_DS19502,BMG_DS075145,"Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome | Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)"
BMGC_DS19503,BMG_DS075151,Digenic haemochromatosis | Digenic hemochromatosis | Digenic hemochromatosis (disorder) | digenic hemochromatosis
BMGC_DS19504,BMG_DS075154,Combined immunodeficiency due to FCH and mu domain containing endocytic adaptor 1 deficiency | Combined immunodeficiency due to FCH and mu domain containing endocytic adaptor 1 deficiency (disorder) | Combined immunodeficiency due to FCHO1 deficiency
BMGC_DS19505,BMG_DS075155,SLC40A1-related haemochromatosis | SLC40A1-related hemochromatosis | Solute carrier family 40 member 1-related haemochromatosis | Solute carrier family 40 member 1-related hemochromatosis | Solute carrier family 40 member 1-related hemochromatosis (disorder)
BMGC_DS19506,BMG_DS075156,isolated primary pigmented nodular adrenocortical disease | primary pigmented nodular adrenocortical disease
BMGC_DS19507,BMG_DS075157,craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome
BMGC_DS19508,BMG_DS075158,"MYT1L-related Prader-Willi-like syndrome | MYT1L-related developmental delay, intellectual disability, obesity syndrome | MYT1L-related developmental delay-intellectual disability-obesity syndrome | Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome | Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder)"
BMGC_DS19509,BMG_DS075163,genetic central precocious puberty in male
BMGC_DS19510,BMG_DS075166,genetic central precocious puberty in female
BMGC_DS19511,BMG_DS075173,"SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2) related blepharophimosis, intellectual disability syndrome | SMARCA2-related blepharophimosis, intellectual disability syndrome | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder)"
BMGC_DS19512,BMG_DS075177,B-lymphoblastic leukemia with TCF3-HLF fusion | B-lymphoblastic leukemia/lymphoma with t(17;19)
BMGC_DS19513,BMG_DS075178,B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
BMGC_DS19514,BMG_DS075179,"HPDL (4-hydroxyphenylpyruvate dioxygenase like) related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome | HPDL-related Leigh-like encephalopathy | HPDL-related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome | Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome | Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome (disorder)"
BMGC_DS19515,BMG_DS075180,"Cerebellar ataxia, brain abnormalities, cardiac conduction defects syndrome | Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) | Neurodevelopmental delay, hypotonia, cerebellar atrophy, cardiac conduction defects syndrome"
BMGC_DS19516,BMG_DS075183,autosomal recessive ataxia due to PEX2 deficiency
BMGC_DS19517,BMG_DS075184,autosomal recessive ataxia due to PEX16 deficiency
BMGC_DS19518,BMG_DS075186,Adult-onset SCA47 (spinocerebellar ataxia type 47) | Adult-onset spinocerebellar ataxia type 47 | PUM1-related cerebellar ataxia | Pumilio RNA binding family member 1-related cerebellar ataxia | Pumilio RNA binding family member 1-related cerebellar ataxia (disorder)
BMGC_DS19519,BMG_DS075187,"CHD8 overgrowth syndrome | CHD8-related intellectual disability, autism, macrocephaly, tall stature syndrome | Chromodomain helicase DNA binding protein 8 overgrowth syndrome | Chromodomain helicase DNA binding protein 8 overgrowth syndrome (disorder)"
BMGC_DS19520,BMG_DS075188,mesomelic dysplasia-digital anomalies-intellectual disability syndrome
BMGC_DS19521,BMG_DS075746,Autonomic Central Nervous System Diseases | Autonomic Nervous System Diseases
BMGC_DS19522,BMG_DS075747,Autonomic Nervous System Diseases | Non-Familial Dysautonomia
BMGC_DS19523,BMG_DS075749,Mandibulofacial Dysostosis | Mandibulofacial Dysostosis (MFD1) | mandibulofacial dysostosis
BMGC_DS19524,BMG_DS075750,Kunjin virus Infection | West Nile Fever
BMGC_DS19525,BMG_DS075753,Cavernous Sinus Thrombosis | Septic Cavernous Sinusitis
BMGC_DS19526,BMG_DS075754,Acute Regional Pain Syndrome | Complex Regional Pain Syndromes
BMGC_DS19527,BMG_DS075755,Chronic Regional Pain Syndrome | Complex Regional Pain Syndromes
BMGC_DS19528,BMG_DS075756,Mitochondrial Defect | Mitochondrial Diseases
BMGC_DS19529,BMG_DS075758,Chronic Pain | Chronic Secondary Pain
BMGC_DS19530,BMG_DS075765,"SPERMATOGENIC FAILURE, X-LINKED, 5 | X-linked spermatogenic failure 5 | spermatogenic failure, X-linked, 5"
BMGC_DS19531,BMG_DS075766,"SPERMATOGENIC FAILURE, X-LINKED, 6 | X-linked spermatogenic failure 6 | spermatogenic failure, X-linked, 6"
BMGC_DS19532,BMG_DS075767,"SPERMATOGENIC FAILURE, X-LINKED, 7 | X-linked spermatogenic failure 7 | spermatogenic failure, X-linked, 7"
BMGC_DS19533,BMG_DS075768,"intellectual developmental disorder, X-linked 111"
BMGC_DS19534,BMG_DS075769,"CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1"
BMGC_DS19535,BMG_DS075770,"AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED | autoinflammatory disease, multisystem, with immune dysregulation, X-linked"
BMGC_DS19536,BMG_DS075771,"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE | hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature"
BMGC_DS19537,BMG_DS075772,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112 | intellectual developmental disorder, X-linked 112"
BMGC_DS19538,BMG_DS075773,prolonged electroretinal response suppression 1
BMGC_DS19539,BMG_DS075774,"CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE | congenital myopathy 4B, autosomal recessive"
BMGC_DS19540,BMG_DS075775,CONE-ROD DYSTROPHY 23
BMGC_DS19541,BMG_DS075776,"MACULAR DYSTROPHY, RETINAL, 5 | cone-rod dystrophy 15"
BMGC_DS19542,BMG_DS075777,"CARDIOMYOPATHY, DILATED, 1PP | hypertrophic cardiomyopathy 26"
BMGC_DS19543,BMG_DS075778,ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 15 | hypertrophic cardiomyopathy 26
BMGC_DS19544,BMG_DS075780,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures"
BMGC_DS19545,BMG_DS075781,"intellectual developmental disorder, autosomal recessive 78"
BMGC_DS19546,BMG_DS075782,"DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES | developmental delay with hypotonia, myopathy, and brain abnormalities"
BMGC_DS19547,BMG_DS075783,"hydrocephalus, congenital, 5, susceptibility to"
BMGC_DS19548,BMG_DS075784,NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with poor growth and behavioral abnormalities
BMGC_DS19549,BMG_DS075785,"LEUKODYSTROPHY, HYPOMYELINATING, 25 | hypomyelinating leukodystrophy 25 | leukodystrophy, hypomyelinating, 25"
BMGC_DS19550,BMG_DS075786,LYMPHATIC MALFORMATION 13 | lymphatic malformation 13
BMGC_DS19551,BMG_DS075787,EPISODIC KINESIGENIC DYSKINESIA 3 | episodic kinesigenic dyskinesia 3
BMGC_DS19552,BMG_DS075788,CONGENITAL MYOPATHY 18 | congenital myopathy 18
BMGC_DS19553,BMG_DS075789,"CARDIOMYOPATHY, DILATED, 1OO | cardiomyopathy, dilated, 100"
BMGC_DS19554,BMG_DS075790,"NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM | neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum"
BMGC_DS19555,BMG_DS075791,CATARACT 50 WITH OR WITHOUT GLAUCOMA | cataract 50 with or without glaucoma
BMGC_DS19556,BMG_DS075792,"CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE | congenital myopathy 2B | congenital myopathy 2b, severe infantile, autosomal recessive"
BMGC_DS19557,BMG_DS075793,"LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA | hypomyelinating leukodystrophy 26 | leukodystrophy, hypomyelinating, 26, with chondrodysplasia"
BMGC_DS19558,BMG_DS075794,neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
BMGC_DS19559,BMG_DS075795,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23 | mitochondrial complex IV deficiency nuclear type 23 | mitochondrial complex IV deficiency, nuclear type 23"
BMGC_DS19560,BMG_DS075796,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14 | oocyte maturation defect 14
BMGC_DS19561,BMG_DS075797,SPERMATOGENIC FAILURE 81 | spermatogenic failure 81
BMGC_DS19562,BMG_DS075798,"CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT | congenital myopathy 2C | congenital myopathy 2c, severe infantile, autosomal dominant"
BMGC_DS19563,BMG_DS075799,"DEAFNESS, AUTOSOMAL DOMINANT 86 | autosomal dominant nonsyndromic deafness 86 | hearing loss, autosomal dominant 86"
BMGC_DS19564,BMG_DS075800,"DEAFNESS, AUTOSOMAL DOMINANT 87 | autosomal dominant nonsyndromic deafness 87 | hearing loss, autosomal dominant 87"
BMGC_DS19565,BMG_DS075801,IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION | immunodeficiency 109 with lymphoproliferation
BMGC_DS19566,BMG_DS075802,"DEAFNESS, AUTOSOMAL DOMINANT 88 | autosomal dominant nonsyndromic deafness 88 | hearing loss, autosomal dominant 88"
BMGC_DS19567,BMG_DS075803,"DEAFNESS, AUTOSOMAL DOMINANT 89 | autosomal dominant nonsyndromic deafness 89 | hearing loss, autosomal dominant 89"
BMGC_DS19568,BMG_DS075804,"AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE | amyotrophic lateral sclerosis 27, juvenile | juvenile amyotrophic lateral sclerosis type 27"
BMGC_DS19569,BMG_DS075805,"MYOPATHY, SARCOPLASMIC BODY | myopathy, sarcoplasmic body"
BMGC_DS19570,BMG_DS075806,"NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures"
BMGC_DS19571,BMG_DS075807,"congenital heart defects, multiple types, 9"
BMGC_DS19572,BMG_DS075808,AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS | autoinflammation with pulmonary and cutaneous vasculitis
BMGC_DS19573,BMG_DS075809,MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 | mitochondrial trifunctional protein deficiency 2
BMGC_DS19574,BMG_DS075810,"PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8 | combined or isolated pituitary hormone deficiency 8 | pituitary hormone deficiency, combined or isolated, 8"
BMGC_DS19575,BMG_DS075811,NEUROOCULORENAL SYNDROME | neurooculorenal syndrome
BMGC_DS19576,BMG_DS075812,NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT | neurodegeneration and seizures due to copper transport defect
BMGC_DS19577,BMG_DS075813,CONGENITAL MYOPATHY 20 | congenital myopathy 20
BMGC_DS19578,BMG_DS075814,PREMATURE OVARIAN FAILURE 21 | premature ovarian failure 21
BMGC_DS19579,BMG_DS075815,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 | leukoencephalopathy with vanishing white matter 2
BMGC_DS19580,BMG_DS075816,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 | leukoencephalopathy with vanishing white matter 3
BMGC_DS19581,BMG_DS075817,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4 | leukoencephalopathy with vanishing white matter 4
BMGC_DS19582,BMG_DS075818,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12 | cortical dysplasia, complex, with other brain malformations 12"
BMGC_DS19583,BMG_DS075819,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES | neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities"
BMGC_DS19584,BMG_DS075820,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17 | oocyte/zygote/embryo maturation arrest 17
BMGC_DS19585,BMG_DS075821,"HEMATURIA, BENIGN FAMILIAL, 2 | hematuria, benign familial, 2"
BMGC_DS19586,BMG_DS075822,C1Q deficiency 2 | C1q DEFICIENCY 2
BMGC_DS19587,BMG_DS075823,C1Q deficiency 3 | C1q DEFICIENCY 3
BMGC_DS19588,BMG_DS075824,CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE | congenital myopathy 21 | congenital myopathy 21 with early respiratory failure
BMGC_DS19589,BMG_DS075825,"NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES | neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities"
BMGC_DS19590,BMG_DS075826,"intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities"
BMGC_DS19591,BMG_DS075827,HATIPOGLU IMMUNODEFICIENCY SYNDROME | hatipoglu immunodeficiency syndrome
BMGC_DS19592,BMG_DS075828,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18 | oocyte/zygote/embryo maturation arrest 18
BMGC_DS19593,BMG_DS075829,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19 | oocyte/zygote/embryo maturation arrest 19
BMGC_DS19594,BMG_DS075830,CONE-ROD DYSTROPHY 24 | cone-rod dystrophy 24
BMGC_DS19595,BMG_DS075831,basal cell nevus syndrome 2
BMGC_DS19596,BMG_DS075832,prolonged electroretinal response suppression 2
BMGC_DS19597,BMG_DS075833,"CONGENITAL MYOPATHY 22A, CLASSIC | congenital myopathy 22A | congenital myopathy 22A, classic"
BMGC_DS19598,BMG_DS075834,"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B | developmental and epileptic encephalopathy 31B | developmental and epileptic encephalopathy, 31B"
BMGC_DS19599,BMG_DS075835,SPERMATOGENIC FAILURE 82 | spermatogenic failure 82
BMGC_DS19600,BMG_DS075836,SPERMATOGENIC FAILURE 83 | spermatogenic failure 83
BMGC_DS19601,BMG_DS075837,"CILIARY DYSKINESIA, PRIMARY, 50 | ciliary dyskinesia, primary, 50"
BMGC_DS19602,BMG_DS075838,DIARRHEA 13 | diarrhea 13
BMGC_DS19603,BMG_DS075839,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A | mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A"
BMGC_DS19604,BMG_DS075840,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7 | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 7"
BMGC_DS19605,BMG_DS075841,combined low LDL and fibrinogen
BMGC_DS19606,BMG_DS075842,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7"
BMGC_DS19607,BMG_DS075843,"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9 | osteopetrosis, autosomal recessive 9"
BMGC_DS19608,BMG_DS075844,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8"
BMGC_DS19609,BMG_DS075845,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 | cerebroretinal microangiopathy with calcifications and cysts 3
BMGC_DS19610,BMG_DS075846,"CONGENITAL MYOPATHY 22B, SEVERE FETAL | congenital myopathy 22B | congenital myopathy 22B, severe fetal"
BMGC_DS19611,BMG_DS075847,RECON PROGEROID SYNDROME | RECON progeroid syndrome
BMGC_DS19612,BMG_DS075848,"NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY | neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity"
BMGC_DS19613,BMG_DS075849,HYPERSULFATURIA | hypersulfaturia
BMGC_DS19614,BMG_DS075850,"NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS | nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis"
BMGC_DS19615,BMG_DS075851,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 | muscular dystrophy, limb-girdle, autosomal recessive 28"
BMGC_DS19616,BMG_DS075852,"AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS | autoinflammatory disease, systemic, with vasculitis"
BMGC_DS19617,BMG_DS075853,"SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 89 | spastic paraplegia 89, autosomal recessive"
BMGC_DS19618,BMG_DS075854,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20 | oocyte/zygote/embryo maturation arrest 20
BMGC_DS19619,BMG_DS075855,"AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2 | auditory neuropathy, autosomal dominant 2"
BMGC_DS19620,BMG_DS075856,"NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET | nemaline myopathy 5B | nemaline myopathy 5B, autosomal recessive, childhood-onset"
BMGC_DS19621,BMG_DS075857,"NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT | nemaline myopathy 5C | nemaline myopathy 5C, autosomal dominant"
BMGC_DS19622,BMG_DS075858,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 | intellectual developmental disorder, autosomal recessive 79"
BMGC_DS19623,BMG_DS075859,GLYCINE ENCEPHALOPATHY 2 | glycine encephalopathy 2
BMGC_DS19624,BMG_DS075860,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 | pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9"
BMGC_DS19625,BMG_DS075861,SPERMATOGENIC FAILURE 84 | spermatogenic failure 84
BMGC_DS19626,BMG_DS075862,"SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT | hereditary spastic paraplegia 90A | spastic paraplegia 90A, autosomal dominant"
BMGC_DS19627,BMG_DS075863,"SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE | hereditary spastic paraplegia 90B | spastic paraplegia 90B, autosomal recessive"
BMGC_DS19628,BMG_DS075864,RETINITIS PIGMENTOSA 97 | retinitis pigmentosa 97
BMGC_DS19629,BMG_DS075865,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 | multiple mitochondrial dysfunctions syndrome 7
BMGC_DS19630,BMG_DS075866,"CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2"
BMGC_DS19631,BMG_DS075867,"DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS | dystonia 37, early-onset with striatal lesions | dystonia 37, early-onset, with striatal lesions"
BMGC_DS19632,BMG_DS075868,"NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities"
BMGC_DS19633,BMG_DS075869,"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3 | autoimmune disease, multisystem, infantile-onset, 3"
BMGC_DS19634,BMG_DS075870,"CILIARY DYSKINESIA, PRIMARY, 51 | ciliary dyskinesia, primary, 51"
BMGC_DS19635,BMG_DS075871,"intellectual developmental disorder, autosomal dominant 72"
BMGC_DS19636,BMG_DS075872,"breast-ovarian cancer, familial, susceptibility to, 5"
BMGC_DS19637,BMG_DS075873,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES | neurodevelopmental disorder with microcephaly and movement abnormalities
BMGC_DS19638,BMG_DS075874,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 | megalencephalic leukoencephalopathy with subcortical cysts 3
BMGC_DS19639,BMG_DS075875,"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING | megalencephalic leukoencephalopathy with subcortical cysts 4, remitting"
BMGC_DS19640,BMG_DS075876,IMMUNODEFICIENCY 112 | immunodeficiency 112
BMGC_DS19641,BMG_DS075877,"intellectual developmental disorder, autosomal dominant 73"
BMGC_DS19642,BMG_DS075878,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 | combined oxidative phosphorylation deficiency 58
BMGC_DS19643,BMG_DS075879,AMYOTROPHIC LATERAL SCLEROSIS 28 | amyotrophic lateral sclerosis 28 | amyotrophic lateral sclerosis type 28
BMGC_DS19644,BMG_DS075880,"DYSTONIA 22, JUVENILE-ONSET | dystonia 22, juvenile-onset"
BMGC_DS19645,BMG_DS075881,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa | congenital disorder of glycosylation, type IIaa"
BMGC_DS19646,BMG_DS075882,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES | neurodevelopmental disorder with hypotonia and speech delay | neurodevelopmental disorder with hypotonia and speech delay, with or without seizures"
BMGC_DS19647,BMG_DS075883,"DYSTONIA 22, ADULT-ONSET | dystonia 22, adult-onset"
BMGC_DS19648,BMG_DS075884,AURICULOCONDYLAR SYNDROME 4 | auriculocondylar syndrome 4
BMGC_DS19649,BMG_DS075885,AURICULOCONDYLAR SYNDROME 2B | auriculocondylar syndrome 2B
BMGC_DS19650,BMG_DS075886,BIRT-HOGG-DUBE SYNDROME 2 | Birt-Hogg-Dube syndrome 2
BMGC_DS19651,BMG_DS075887,OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 | oculopharyngeal muscular dystrophy 2
BMGC_DS19652,BMG_DS075888,"CARDIOMYOPATHY, DILATED, 2I | cardiomyopathy, dilated, 2I"
BMGC_DS19653,BMG_DS075890,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 15 | hypertrophic cardiomyopathy 26"
BMGC_DS19654,BMG_DS075894,MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY | mitochondrial trifunctional protein deficiency 2
BMGC_DS19655,BMG_DS075898,central core myopathy
BMGC_DS19656,BMG_DS075901,MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY | mitochondrial trifunctional protein deficiency 1
BMGC_DS19657,BMG_DS075960,Autosomal dominant popliteal pterygium syndrome | Autosomal dominant popliteal pterygium syndrome (disorder) | Facio-genito-popliteal syndrome | Popliteal web syndrome | autosomal dominant popliteal pterygium syndrome
BMGC_DS19658,BMG_DS075964,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA | cutis laxa, autosomal recessive, type 1A"
BMGC_DS19659,BMG_DS075985,Deficiency of IMP pyrophosphorylase | Deficiency of guanine phosphoribosyltransferase | Deficiency of hypoxanthine phosphoribosyltransferase | Deficiency of hypoxanthine phosphoribosyltransferase (disorder) | Deficiency of hypoxanthine-guanine phosphoribosyltransferase | hypoxanthine-guanine phosphoribosyltransferase deficiency
BMGC_DS19660,BMG_DS075988,Activated protein C resistance | Resistance to activated protein C caused by factor V R506Q mutation | Resistance to activated protein C due to factor V Leiden mutation | Resistance to activated protein C due to factor V Leiden mutation (disorder)
BMGC_DS19661,BMG_DS075991,MYOCLONIC EPILEPSY OF LAFORA 1 | myoclonic epilepsy of Lafora 1
BMGC_DS19662,BMG_DS075996,Collodion baby | Lamellar ichthyosis | Lamellar ichthyosis (disorder) | lamellar ichthyosis
BMGC_DS19663,BMG_DS075998,"Acquired polycythaemia, unspecified | Secondary polycythaemia | Secondary polycythaemia (disorder) | Secondary polycythemia | familial erythrocytosis 2"
BMGC_DS19664,BMG_DS075999,Factor 9 deficiency Leyden type | Factor IX deficiency Leyden type | Haemophilia B Leyden | Hemophilia B | Hemophilia B Leyden | Hemophilia B Leyden (disorder) | hemophilia B leyden
BMGC_DS19665,BMG_DS076000,Acquired adrenocortical insufficiency | Primary adrenocortical insufficiency | Primary adrenocortical insufficiency (disorder) | Primary hypoadrenalism
BMGC_DS19666,BMG_DS076002,"Spinal Muscular Atrophies of Childhood | Spinal Muscular Atrophy, Infantile | spinal muscular atrophy, type 1"
BMGC_DS19667,BMG_DS076004,Hearing Disorders
BMGC_DS19668,BMG_DS076011,Porphyria | Porphyria (disorder) | porphyria
BMGC_DS19669,BMG_DS076012,Porphyrias
BMGC_DS19670,BMG_DS076015,DYSTONIA-DEAFNESS SYNDROME 1 | developmental malformations-deafness-dystonia syndrome
BMGC_DS19671,BMG_DS076020,Myotonia permanens | Myotonia permanens (disorder) | myotonia permanens
BMGC_DS19672,BMG_DS076029,"IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION | immune dysregulation, autoimmunity, and autoinflammation"
BMGC_DS19673,BMG_DS076030,"BECKER NEVUS, ISOLATED"
BMGC_DS19674,BMG_DS076031,"HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | hyper-IgE syndrome 6, autosomal dominant, with recurrent infections"
BMGC_DS19675,BMG_DS076075,B-lymphoblastic leukemia with MYC rearrangement
BMGC_DS19676,BMG_DS076077,B-lymphoblastic leukemia with MEF2D rearrangement
BMGC_DS19677,BMG_DS076078,B-lymphoblastic leukemia with ZNF384 rearrangement
BMGC_DS19678,BMG_DS076079,B-lymphoblastic leukemia with NUTM1 rearrangement
BMGC_DS19679,BMG_DS076081,B-lymphoblastic leukemia with PAX5alt
BMGC_DS19680,BMG_DS076082,acute myeloid leukemia with FUS-ERG fusion
BMGC_DS19681,BMG_DS076083,acute myeloid leukemia with NPM1-MLF1 fusion
BMGC_DS19682,BMG_DS076084,B-lymphoblastic leukemia with TCF3-HLF fusion
BMGC_DS19683,BMG_DS076421,"ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT | autosomal dominant Alport syndrome"
BMGC_DS19684,BMG_DS076422,LUI-JEE-BARON SYNDROME | Lui-Jee-Baron syndrome
BMGC_DS19685,BMG_DS076423,IMMUNODEFICIENCY 118 | immunodeficiency 118
BMGC_DS19686,BMG_DS076424,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113 | intellectual developmental disorder, x-linked 113"
BMGC_DS19687,BMG_DS076425,"AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 1 | congenital amegakaryocytic thrombocytopenia 1"
BMGC_DS19688,BMG_DS076426,TUMOR PREDISPOSITION SYNDROME 4
BMGC_DS19689,BMG_DS076427,"SPASTIC PARAPLEGIA 72A, AUTOSOMAL DOMINANT | hereditary spastic paraplegia 72"
BMGC_DS19690,BMG_DS076428,"EPILEPSY, EARLY-ONSET, 2, WITH OR WITHOUT DEVELOPMENTAL DELAY | early-onset epilepsy 2 | epilepsy, early-onset, with or without developmental delay"
BMGC_DS19691,BMG_DS076429,"EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT | epidermolytic hyperkeratosis 2 | epidermolytic hyperkeratosis 2A, autosomal dominant"
BMGC_DS19692,BMG_DS076430,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9 | autosomal recessive distal hereditary motor neuronopathy 9 | neuronopathy, distal hereditary motor, autosomal recessive 9"
BMGC_DS19693,BMG_DS076431,"encephalitis, acute, infection-induced, susceptibility to, 12"
BMGC_DS19694,BMG_DS076432,"EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY | early-onset epilepsy 3 | epilepsy, early-onset, 3, with or without developmental delay"
BMGC_DS19695,BMG_DS076433,"CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY | cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay"
BMGC_DS19696,BMG_DS076434,"congenital smooth muscle hamartoma, with or without hemihypertrophy"
BMGC_DS19697,BMG_DS076435,"THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY"
BMGC_DS19698,BMG_DS076436,THROMBOCYTOPENIA 9 | thrombocytopenia 9
BMGC_DS19699,BMG_DS076437,"AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 | amegakaryocytic thrombocytopenia, congenital, 2 | congenital amegakaryocytic thrombocytopenia 2"
BMGC_DS19700,BMG_DS076438,"PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | Parkinson's disease 25 | parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development"
BMGC_DS19701,BMG_DS076439,"VARIEGATE PORPHYRIA, CHILDHOOD-ONSET | variegate porphyria, childhood-onset"
BMGC_DS19702,BMG_DS076440,THROMBOCYTOPENIA 10 | thrombocytopenia 10
BMGC_DS19703,BMG_DS076441,"BLEEDING DISORDER, PLATELET-TYPE, 25 | bleeding disorder, platelet-type, 25"
BMGC_DS19704,BMG_DS076442,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
BMGC_DS19705,BMG_DS076443,SPERMATOGENIC FAILURE 85 | spermatogenic failure 85
BMGC_DS19706,BMG_DS076444,"NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES | neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies"
BMGC_DS19707,BMG_DS076445,SPERMATOGENIC FAILURE 87 | spermatogenic failure 87
BMGC_DS19708,BMG_DS076446,ZIEGLER-HUANG SYNDROME | Ziegler-Huang syndrome
BMGC_DS19709,BMG_DS076447,NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES | neurodevelopmental disorder with language delay and variable cognitive abnormalities
BMGC_DS19710,BMG_DS076448,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 | developmental and epileptic encephalopathy 111
BMGC_DS19711,BMG_DS076449,ICHTHYOSIS WITH ERYTHROKERATODERMA | ichthyosis with erythrokeratoderma
BMGC_DS19712,BMG_DS076450,XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME | xerosis and growth failure with immune and pulmonary dysfunction syndrome
BMGC_DS19713,BMG_DS076451,FLIEDNER-ZWEIER SYNDROME | Fliedner-Zweier syndrome
BMGC_DS19714,BMG_DS076452,"SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT | spastic paraplegia 18a, autosomal dominant"
BMGC_DS19715,BMG_DS076453,"NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION | neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction"
BMGC_DS19716,BMG_DS076454,ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES | arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
BMGC_DS19717,BMG_DS076455,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 | autosomal dominant distal hereditary motor neuronopathy 11 | neuronopathy, distal hereditary motor, autosomal dominant 11"
BMGC_DS19718,BMG_DS076456,"DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES | developmental delay, dysmorphic facies, and brain anomalies"
BMGC_DS19719,BMG_DS076457,"ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE | Alport syndrome 3b, autosomal recessive"
BMGC_DS19720,BMG_DS076458,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 | developmental and epileptic encephalopathy 112
BMGC_DS19721,BMG_DS076459,"SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA | spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia"
BMGC_DS19722,BMG_DS076460,DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY | developmental delay with or without epilepsy
BMGC_DS19723,BMG_DS076461,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 | autosomal recessive distal hereditary motor neuronopathy 10 | neuronopathy, distal hereditary motor, autosomal recessive 10"
BMGC_DS19724,BMG_DS076462,"ARTHROGRYPOSIS, DISTAL, TYPE 12 | arthrogryposis, distal, type 12"
BMGC_DS19725,BMG_DS076463,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb | congenital disorder of glycosylation, type IIbb"
BMGC_DS19726,BMG_DS076464,SPERMATOGENIC FAILURE 88 | spermatogenic failure 88
BMGC_DS19727,BMG_DS076465,PREMATURE OVARIAN FAILURE 22 | premature ovarian failure 22
BMGC_DS19728,BMG_DS076466,OPTIC ATROPHY 14 | optic atrophy 14
BMGC_DS19729,BMG_DS076467,"DEAFNESS, AUTOSOMAL RECESSIVE 121 | hearing loss, autosomal recessive 121"
BMGC_DS19730,BMG_DS076468,CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA | craniometadiaphyseal osteosclerosis with hip dysplasia
BMGC_DS19731,BMG_DS076469,IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION | immunodeficiency 113 with autoimmunity and autoinflammation
BMGC_DS19732,BMG_DS076470,CORNELIA DE LANGE SYNDROME 6 | Cornelia de Lange syndrome 6
BMGC_DS19733,BMG_DS076471,"LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2 | Leber-like hereditary optic neuropathy, autosomal recessive 2"
BMGC_DS19734,BMG_DS076472,"CILIARY DYSKINESIA, PRIMARY, 52 | ciliary dyskinesia, primary, 52"
BMGC_DS19735,BMG_DS076473,OTOSCLEROSIS 11 | otosclerosis 11
BMGC_DS19736,BMG_DS076474,OPTIC ATROPHY 15 | optic atrophy 15
BMGC_DS19737,BMG_DS076475,GARG-MISHRA PROGEROID SYNDROME | Garg-Mishra progeroid syndrome
BMGC_DS19738,BMG_DS076476,lymphatic malformation 14
BMGC_DS19739,BMG_DS076477,"IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE | immunodeficiency 114, folate-responsive"
BMGC_DS19740,BMG_DS076478,"SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE | spastic paraplegia 72b, autosomal recessive"
BMGC_DS19741,BMG_DS076479,LONG-OLSEN-DISTELMAIER SYNDROME | Long-Olsen-Distelmaier syndrome
BMGC_DS19742,BMG_DS076480,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21 | oocyte/zygote/embryo maturation arrest 21
BMGC_DS19743,BMG_DS076481,OPTIC ATROPHY 16 | optic atrophy 16
BMGC_DS19744,BMG_DS076482,IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION | immunodeficiency 115 with autoinflammation
BMGC_DS19745,BMG_DS076483,"CARDIOMYOPATHY, DILATED, 2J | cardiomyopathy, dilated, 2j"
BMGC_DS19746,BMG_DS076484,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE | neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline"
BMGC_DS19747,BMG_DS076485,TAN-ALMURSHEDI SYNDROME | Tan-Almurshedi syndrome
BMGC_DS19748,BMG_DS076486,"CILIARY DYSKINESIA, PRIMARY, 53 | ciliary dyskinesia, primary, 53"
BMGC_DS19749,BMG_DS076487,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 | combined oxidative phosphorylation deficiency 59
BMGC_DS19750,BMG_DS076488,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6"
BMGC_DS19751,BMG_DS076489,"DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME | diabetes, deafness, developmental delay, and short stature syndrome"
BMGC_DS19752,BMG_DS076490,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY | intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly"
BMGC_DS19753,BMG_DS076491,THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES | thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
BMGC_DS19754,BMG_DS076492,ALFADHEL SYNDROME | Alfadhel syndrome
BMGC_DS19755,BMG_DS076493,HOXHA-ALIU SYNDROME | Hoxha-Aliu syndrome
BMGC_DS19756,BMG_DS076494,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE | spondyloepimetaphyseal dysplasia, Guo-Campeau type"
BMGC_DS19757,BMG_DS076495,"SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE | spastic ataxia 10, autosomal recessive"
BMGC_DS19758,BMG_DS076496,IMMUNODEFICIENCY 117 | immunodeficiency 117
BMGC_DS19759,BMG_DS076497,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9 | neurodegeneration with brain iron accumulation 9
BMGC_DS19760,BMG_DS076498,"IMMUNODEFICIENCY, COMMON VARIABLE, 15 | immunodeficiency, common variable, 15"
BMGC_DS19761,BMG_DS076499,"NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT | neutropenia, severe congenital, 11, autosomal dominant"
BMGC_DS19762,BMG_DS076500,"LEUKODYSTROPHY, HYPOMYELINATING, 27 | leukodystrophy, hypomyelinating, 27"
BMGC_DS19763,BMG_DS076501,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 | lipodystrophy, familial partial, type 8"
BMGC_DS19764,BMG_DS076502,"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 | lipodystrophy, congenital generalized, type 5"
BMGC_DS19765,BMG_DS076503,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 | lipodystrophy, familial partial, type 9"
BMGC_DS19766,BMG_DS076504,PREMATURE OVARIAN FAILURE 23 | premature ovarian failure 23
BMGC_DS19767,BMG_DS076505,MOYAMOYA DISEASE 7 | moyamoya disease 7
BMGC_DS19768,BMG_DS076506,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 | intellectual developmental disorder, autosomal dominant 74"
BMGC_DS19769,BMG_DS076507,DEVELOPMENTAL DYSPLASIA OF THE HIP 3 | developmental dysplasia of the hip 3
BMGC_DS19770,BMG_DS076508,YUKSEL-VOGEL-BAUER SYNDROME | Yuksel-Vogel-Bauer syndrome
BMGC_DS19771,BMG_DS076509,SPERMATOGENIC FAILURE 89 | spermatogenic failure 89
BMGC_DS19772,BMG_DS076510,"EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE | epidermolytic hyperkeratosis 2B, autosomal recessive"
BMGC_DS19773,BMG_DS076511,POLYDACTYLY-MACROCEPHALY SYNDROME | polydactyly-macrocephaly syndrome
BMGC_DS19774,BMG_DS076512,SPERMATOGENIC FAILURE 86 | spermatogenic failure 86
BMGC_DS19775,BMG_DS076513,"NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE | neutropenia, severe congenital, 10, autosomal recessive"
BMGC_DS19776,BMG_DS076514,"OSTEOGENESIS IMPERFECTA, TYPE XXIII | osteogenesis imperfecta, type 23"
BMGC_DS19777,BMG_DS076515,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 | intellectual developmental disorder, autosomal recessive 81"
BMGC_DS19778,BMG_DS076542,"AMELOGENESIS IMPERFECTA, TYPE IIIA | amelogenesis imperfecta, type 3A"
BMGC_DS19779,BMG_DS076544,"Porphyria, Erythropoietic | Porphyria, Erythropoietic, Congenital | cutaneous porphyria"
BMGC_DS19780,BMG_DS076545,"MICROPHTHALMIA/COLOBOMA 12 | coloboma, ocular, autosomal dominant"
BMGC_DS19781,BMG_DS076555,Listeria monocytogenes Infections | Listeriosis
BMGC_DS19782,BMG_DS076568,"HYPERTRICHOSIS, CONGENITAL GENERALIZED, 2 | X-linked congenital generalized hypertrichosis"
BMGC_DS19783,BMG_DS076569,"GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | short stature due to GHSR deficiency"
BMGC_DS19784,BMG_DS076573,SPINOCEREBELLAR ATAXIA 47 | cerebellar ataxia type 47
BMGC_DS19785,BMG_DS076574,AURONEURODENTAL SYNDROME | auroneurodental syndrome
BMGC_DS19786,BMG_DS076576,"hyperemesis gravidarum, susceptibility to"
BMGC_DS19787,BMG_DS076577,"Albinism, Partial | Piebaldism"
BMGC_DS19788,BMG_DS076578,Blastomyces dermatitidis Infection | Blastomycosis
BMGC_DS19789,BMG_DS077374,"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC | Ullrich congenital muscular dystrophy 1A | Ullrich congenital muscular dystrophy 1B"
BMGC_DS19790,BMG_DS077375,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37 | intellectual developmental disorder, x-linked, syndromic 37"
BMGC_DS19791,BMG_DS077376,"SPERMATOGENIC FAILURE, X-LINKED, 8 | X-linked spermatogenic failure 8 | spermatogenic failure, x-linked, 8"
BMGC_DS19792,BMG_DS077377,"prostate cancer, hereditary, X-linked 3"
BMGC_DS19793,BMG_DS077378,"SPASTIC PARAPLEGIA 30B, AUTOSOMAL RECESSIVE | spastic paraplegia 30b, autosomal recessive"
BMGC_DS19794,BMG_DS077379,"AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 | amyloidosis, hereditary systemic 5"
BMGC_DS19795,BMG_DS077380,"AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 | amyloidosis, hereditary systemic 6"
BMGC_DS19796,BMG_DS077381,"ENCEPHALOPATHY, PORPHYRIA-RELATED | encephalopathy, porphyria-related"
BMGC_DS19797,BMG_DS077382,"LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED | leukoencephalopathy, porphyria-related"
BMGC_DS19798,BMG_DS077383,"DEAFNESS, AUTOSOMAL RECESSIVE 122 | hearing loss, autosomal recessive 122"
BMGC_DS19799,BMG_DS077384,"BLEEDING DISORDER, VASCULAR-TYPE | bleeding disorder, vascular-type"
BMGC_DS19800,BMG_DS077385,OROFACIODIGITAL SYNDROME XX | orofaciodigital syndrome 20 | orofaciodigital syndrome XX
BMGC_DS19801,BMG_DS077386,"DEAFNESS, AUTOSOMAL DOMINANT 90 | autosomal dominant nonsyndromic deafness 90 | hearing loss, autosomal dominant 90"
BMGC_DS19802,BMG_DS077387,BETHLEM MYOPATHY 1B | Bethlem myopathy 1B
BMGC_DS19803,BMG_DS077388,BETHLEM MYOPATHY 1C | Bethlem myopathy 1C
BMGC_DS19804,BMG_DS077389,ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B | Ullrich congenital muscular dystrophy 1B
BMGC_DS19805,BMG_DS077390,ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C | Ullrich congenital muscular dystrophy 1C
BMGC_DS19806,BMG_DS077391,MICROPHTHALMIA/COLOBOMA 11 | microphthalmia/coloboma 11
BMGC_DS19807,BMG_DS077392,"NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES | neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities"
BMGC_DS19808,BMG_DS077393,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL | cardiomyopathy, familial hypertrophic, 30, atrial"
BMGC_DS19809,BMG_DS077394,SPERMATOGENIC FAILURE 90 | spermatogenic failure 90
BMGC_DS19810,BMG_DS077395,"DEAFNESS, AUTOSOMAL RECESSIVE 123 | hearing loss, autosomal recessive 123"
BMGC_DS19811,BMG_DS077396,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES | neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
BMGC_DS19812,BMG_DS077397,NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES | neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
BMGC_DS19813,BMG_DS077398,MEGALENCEPHALY-POLYDACTYLY SYNDROME | megalencephaly-polydactyly syndrome
BMGC_DS19814,BMG_DS077399,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 | generalized epilepsy with febrile seizures plus, type 12"
BMGC_DS19815,BMG_DS077400,THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY | thrombocytopenia 12 with or without myopathy
BMGC_DS19816,BMG_DS077401,MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION | macular dystrophy with or without cone dysfunction
BMGC_DS19817,BMG_DS077402,SECKEL SYNDROME 11 | Seckel syndrome 11
BMGC_DS19818,BMG_DS077403,JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME | Jeffries-Lakhani neurodevelopmental syndrome
BMGC_DS19819,BMG_DS077404,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 | developmental and epileptic encephalopathy 113
BMGC_DS19820,BMG_DS077405,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 | developmental and epileptic encephalopathy 114
BMGC_DS19821,BMG_DS077406,"THROMBOCYTOPENIA 13, SYNDROMIC | thrombocytopenia 13, syndromic"
BMGC_DS19822,BMG_DS077407,"PULMONARY HYPERTENSION, PRIMARY, 6 | pulmonary hypertension, primary, 6"
BMGC_DS19823,BMG_DS077408,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 | autosomal recessive intellectual developmental disorder 82 | intellectual developmental disorder, autosomal recessive 82"
BMGC_DS19824,BMG_DS077409,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID | cutis laxa, autosomal recessive, type 1d"
BMGC_DS19825,BMG_DS077410,"NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER | neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder"
BMGC_DS19826,BMG_DS077411,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 | developmental and epileptic encephalopathy 115
BMGC_DS19827,BMG_DS077412,NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY | neurodevelopmental disorder plus optic atrophy
BMGC_DS19828,BMG_DS077413,NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES | neurodevelopmental disorder with progressive movement abnormalities
BMGC_DS19829,BMG_DS077414,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE | basal ganglia calcification, idiopathic, 9, autosomal recessive"
BMGC_DS19830,BMG_DS077415,APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME | aplasia cutis-enamel dysplasia syndrome
BMGC_DS19831,BMG_DS077416,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES | neurodevelopmental disorder with hypotonia and seizures
BMGC_DS19832,BMG_DS077417,OTOSCLEROSIS 12 | otosclerosis 12
BMGC_DS19833,BMG_DS077418,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 29 | muscular dystrophy, limb-girdle, autosomal recessive 29"
BMGC_DS19834,BMG_DS077419,"DEAFNESS, AUTOSOMAL RECESSIVE 124 | autosomal recessive nonsyndromic hearing loss 124"
BMGC_DS19835,BMG_DS077420,AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION | autoinflammation with episodic fever and immune dysregulation
BMGC_DS19836,BMG_DS077421,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 | proteasome-associated autoinflammatory syndrome 6
BMGC_DS19837,BMG_DS077422,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 | developmental and epileptic encephalopathy 116
BMGC_DS19838,BMG_DS077423,IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION | immunodeficiency 121 with autoinflammation
BMGC_DS19839,BMG_DS077424,MHC CLASS I DEFICIENCY 2 | MHC class I deficiency 2
BMGC_DS19840,BMG_DS077425,MHC CLASS I DEFICIENCY 3 | MHC class I deficiency 3
BMGC_DS19841,BMG_DS077426,"ROTHMUND-THOMSON SYNDROME, TYPE 4 | Rothmund-Thomson syndrome, type 4"
BMGC_DS19842,BMG_DS077427,EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME | El Hayek-Chahrour neurodevelopmental disorder
BMGC_DS19843,BMG_DS077428,IMMUNODEFICIENCY 119 | immunodeficiency 119
BMGC_DS19844,BMG_DS077429,IMMUNODEFICIENCY 120 | immunodeficiency 120
BMGC_DS19845,BMG_DS077430,SPERMATOGENIC FAILURE 91 | spermatogenic failure 91
BMGC_DS19846,BMG_DS077431,PREMATURE OVARIAN FAILURE 24 | premature ovarian failure 24
BMGC_DS19847,BMG_DS077432,SPERMATOGENIC FAILURE 92 | spermatogenic failure 92
BMGC_DS19848,BMG_DS077433,SPERMATOGENIC FAILURE 93 | spermatogenic failure 93
BMGC_DS19849,BMG_DS077434,SPERMATOGENIC FAILURE 94 | spermatogenic failure 94
BMGC_DS19850,BMG_DS077435,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE | neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language"
BMGC_DS19851,BMG_DS077436,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES | neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities"
BMGC_DS19852,BMG_DS077437,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY | neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity"
BMGC_DS19853,BMG_DS077438,"EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3 | Ehlers-Danlos syndrome, classic-like, 3"
BMGC_DS19854,BMG_DS077439,IMMUNODEFICIENCY 122 | immunodeficiency 122
BMGC_DS19855,BMG_DS077440,"DEAFNESS, AUTOSOMAL RECESSIVE 125 | hearing loss, autosomal recessive 125"
BMGC_DS19856,BMG_DS077441,AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS | autoinflammation with arthritis and vasculitis
BMGC_DS19857,BMG_DS077442,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B | multiple mitochondrial dysfunctions syndrome 9b
BMGC_DS19858,BMG_DS077443,"CARDIOMYOPATHY, DILATED, 2K | cardiomyopathy, dilated, 2K"
BMGC_DS19859,BMG_DS077444,OVARIAN DYSGENESIS 11 | ovarian dysgenesis 11
BMGC_DS19860,BMG_DS077445,IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS | immunodeficiency 123 with HPV-related verrucosis
BMGC_DS19861,BMG_DS077446,POLYCYSTIC KIDNEY DISEASE 8 | polycystic kidney disease 8
BMGC_DS19862,BMG_DS077447,ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME | arterial tortuosity-bone fragility syndrome
BMGC_DS19863,BMG_DS077448,OTOFACIAL NEURODEVELOPMENTAL SYNDROME | otofacial neurodevelopmental syndrome
BMGC_DS19864,BMG_DS077449,"NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES | neuromuscular disorder, congenital, with dysmorphic facies"
BMGC_DS19865,BMG_DS077473,SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND IMPAIRED INTELLECTUAL DEVELOPMENT | spinal muscular atrophy with microcephaly and mental subnormality
BMGC_DS19866,BMG_DS077478,Hair Diseases | Plica polonica
BMGC_DS19867,BMG_DS077479,ASM Deficiency | Niemann-Pick Diseases
BMGC_DS19868,BMG_DS077480,Fulminant Intracranial Hypertension | Pseudotumor Cerebri
BMGC_DS19869,BMG_DS077481,Pseudotumor Cerebri | Secondary Intracranial Hypertension
BMGC_DS19870,BMG_DS077485,myofibrillar myopathy 3
BMGC_DS19871,BMG_DS077486,tinea barbae
BMGC_DS19872,BMG_DS077488,Rapp-Hodgkin syndrome
BMGC_DS19873,BMG_DS077489,chromosome 5q deletion syndrome
BMGC_DS19874,BMG_DS077490,distal arthrogryposis type 1A
BMGC_DS19875,BMG_DS077491,Bethlem myopathy
BMGC_DS19876,BMG_DS077492,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | immunodeficiency 27A
BMGC_DS19877,BMG_DS077494,cardiofaciocutaneous syndrome
BMGC_DS19878,BMG_DS077495,NFIA-related disorder
BMGC_DS19879,BMG_DS077496,Doyne honeycomb retinal dystrophy
BMGC_DS19880,BMG_DS077497,"acromesomelic dysplasia, Maroteaux type"
BMGC_DS19881,BMG_DS077498,adrenocorticotropic hormone deficiency
BMGC_DS19882,BMG_DS077499,rigid spine muscular dystrophy 1 | rigid spine syndrome
BMGC_DS19883,BMG_DS077500,spondyloepiphyseal dysplasia congenita
BMGC_DS19884,BMG_DS077501,deafness-dystonia-optic neuronopathy syndrome
BMGC_DS19885,BMG_DS077502,molybdenum cofactor deficiency
BMGC_DS19886,BMG_DS077503,pseudoachondroplasia
BMGC_DS19887,BMG_DS077504,distal arthrogryposis type 7
BMGC_DS19888,BMG_DS077505,myofibrillar myopathy 3
BMGC_DS19889,BMG_DS077508,achondrogenesis type II
BMGC_DS19890,BMG_DS077509,medium chain acyl-CoA dehydrogenase deficiency
BMGC_DS19891,BMG_DS077510,"Mycobacterium tuberculosis, susceptibility"
BMGC_DS19892,BMG_DS077511,"Ehlers-Danlos syndrome, spondylodysplastic type"
BMGC_DS19893,BMG_DS077512,congenital central hypoventilation syndrome
BMGC_DS19894,BMG_DS077513,Joubert syndrome 2
BMGC_DS19895,BMG_DS077514,Joubert syndrome 3
BMGC_DS19896,BMG_DS077515,nonsyndromic congenital nail disorder 4
BMGC_DS19897,BMG_DS077516,Waardenburg syndrome type 2A
BMGC_DS19898,BMG_DS077517,fetal akinesia deformation sequence
BMGC_DS19899,BMG_DS077518,Winchester syndrome
BMGC_DS19900,BMG_DS077519,Charlevoix-Saguenay spastic ataxia
BMGC_DS19901,BMG_DS077520,glutaric acidemia I
BMGC_DS19902,BMG_DS077521,familial medullary thyroid carcinoma
BMGC_DS19903,BMG_DS077522,arrhythmogenic right ventricular dysplasia 1
BMGC_DS19904,BMG_DS077523,Townes-Brocks syndrome
BMGC_DS19905,BMG_DS077524,Allan-Herndon-Dudley syndrome
BMGC_DS19906,BMG_DS077525,brachydactyly type A3
BMGC_DS19907,BMG_DS077526,Brown-Vialetto-Van Laere syndrome
BMGC_DS19908,BMG_DS077527,Noonan syndrome with multiple lentigines 2
BMGC_DS19909,BMG_DS077528,spinocerebellar ataxia type 26
BMGC_DS19910,BMG_DS077529,formaldehyde poisoning
BMGC_DS19911,BMG_DS077530,distal arthrogryposis type 3
BMGC_DS19912,BMG_DS077533,sinonasal undifferentiated carcinoma
BMGC_DS19913,BMG_DS077534,methylmalonic aciduria and homocystinuria
BMGC_DS19914,BMG_DS077535,"contractures, pterygia, and spondylocarpotarsal fusion syndrome"
BMGC_DS19915,BMG_DS077536,linear skin defects with multiple congenital anomalies | linear skin defects with multiple congenital anomalies 1
BMGC_DS19916,BMG_DS077537,Seckel syndrome 2
BMGC_DS19917,BMG_DS077539,microcephalic osteodysplastic primordial dwarfism type I
BMGC_DS19918,BMG_DS077540,biotin-responsive basal ganglia disease
BMGC_DS19919,BMG_DS077541,Joubert syndrome 5
BMGC_DS19920,BMG_DS077542,Joubert syndrome 6
BMGC_DS19921,BMG_DS077543,Hermansky-Pudlak syndrome 2
BMGC_DS19922,BMG_DS077546,Noonan syndrome 3
BMGC_DS19923,BMG_DS077547,spinocerebellar ataxia 27A
BMGC_DS19924,BMG_DS077549,Peters anomaly
BMGC_DS19925,BMG_DS077550,lattice corneal dystrophy
BMGC_DS19926,BMG_DS077551,dystonia 12
BMGC_DS19927,BMG_DS077553,frontonasal dysplasia
BMGC_DS19928,BMG_DS077554,non-syndromic synpolydactyly
BMGC_DS19929,BMG_DS077555,Blau syndrome
BMGC_DS19930,BMG_DS077557,retinitis pigmentosa 1
BMGC_DS19931,BMG_DS077558,nemaline myopathy 5A
BMGC_DS19932,BMG_DS077559,distal arthrogryposis type 2B
BMGC_DS19933,BMG_DS077560,obsolete childhood hypophosphatasia
BMGC_DS19934,BMG_DS077563,lymphoid interstitial pneumonia
BMGC_DS19935,BMG_DS077566,cerebellar hypoplasia
BMGC_DS19936,BMG_DS077567,epidermolysis bullosa with congenital localized absence of skin and deformity of nails
BMGC_DS19937,BMG_DS077568,Aland Island eye disease
BMGC_DS19938,BMG_DS077569,inherited prekallikrein deficiency
BMGC_DS19939,BMG_DS077571,3-methylglutaconic aciduria type 1
BMGC_DS19940,BMG_DS077572,craniodiaphyseal dysplasia
BMGC_DS19941,BMG_DS077573,cleft soft palate
BMGC_DS19942,BMG_DS077574,cranioectodermal dysplasia
BMGC_DS19943,BMG_DS077575,hypochondrogenesis
BMGC_DS19944,BMG_DS077576,preterm premature rupture of the membranes
BMGC_DS19945,BMG_DS077577,basal laminar drusen
BMGC_DS19946,BMG_DS077578,pigment dispersion syndrome
BMGC_DS19947,BMG_DS077579,thyroid dyshormonogenesis 2A
BMGC_DS19948,BMG_DS077580,renal agenesis
BMGC_DS19949,BMG_DS077581,inflammatory bowel disease 2
BMGC_DS19950,BMG_DS077582,obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
BMGC_DS19951,BMG_DS077583,Cayman type cerebellar ataxia
BMGC_DS19952,BMG_DS077584,orofacial cleft 3
BMGC_DS19953,BMG_DS077585,orofacial cleft 7
BMGC_DS19954,BMG_DS077586,inclusion body myopathy with Paget disease of bone and frontotemporal dementia
BMGC_DS19955,BMG_DS077587,chromosome 17q11.2 deletion syndrome
BMGC_DS19956,BMG_DS077588,retinitis pigmentosa 27
BMGC_DS19957,BMG_DS077589,holoprosencephaly 7
BMGC_DS19958,BMG_DS077590,orofacial cleft 5
BMGC_DS19959,BMG_DS077591,inflammatory bowel disease 9
BMGC_DS19960,BMG_DS077592,"hyper-IgE recurrent infection syndrome 1, autosomal dominant"
BMGC_DS19961,BMG_DS077593,Leber congenital amaurosis 11
BMGC_DS19962,BMG_DS077595,holoprosencephaly 3
BMGC_DS19963,BMG_DS077596,achromatopsia 4
BMGC_DS19964,BMG_DS077597,retinitis pigmentosa 30
BMGC_DS19965,BMG_DS077598,hypotrichosis-lymphedema-telangiectasia syndrome
BMGC_DS19966,BMG_DS077599,combined deficiency of vitamin K-dependent clotting factors 2
BMGC_DS19967,BMG_DS077600,obsolete inherited genitourinary tract anomalies
BMGC_DS19968,BMG_DS077601,retinitis pigmentosa 3
BMGC_DS19969,BMG_DS077602,Uruguay faciocardiomusculoskeletal syndrome
BMGC_DS19970,BMG_DS077604,cone-rod dystrophy 10
BMGC_DS19971,BMG_DS077605,nephronophthisis 4
BMGC_DS19972,BMG_DS077606,Carney-Stratakis syndrome
BMGC_DS19973,BMG_DS077607,inflammatory bowel disease 4
BMGC_DS19974,BMG_DS077608,inflammatory bowel disease 6
BMGC_DS19975,BMG_DS077609,inflammatory bowel disease 8
BMGC_DS19976,BMG_DS077610,congenital nonspherocytic hemolytic anemia 2
BMGC_DS19977,BMG_DS077612,obsoleted echo virus 11 sensitivity
BMGC_DS19978,BMG_DS077613,keratosis palmoplantaris striata 2
BMGC_DS19979,BMG_DS077614,complement component 4a deficiency
BMGC_DS19980,BMG_DS077615,cerebrooculofacioskeletal syndrome 4
BMGC_DS19981,BMG_DS077616,brachydactyly-syndactyly syndrome
BMGC_DS19982,BMG_DS077617,retinitis pigmentosa 35
BMGC_DS19983,BMG_DS077618,inflammatory bowel disease 5
BMGC_DS19984,BMG_DS077619,exudative vitreoretinopathy 3
BMGC_DS19985,BMG_DS077621,macrocephaly-autism syndrome
BMGC_DS19986,BMG_DS077622,inflammatory bowel disease 7
BMGC_DS19987,BMG_DS077623,Mast syndrome
BMGC_DS19988,BMG_DS077624,hydrolethalus syndrome 1
BMGC_DS19989,BMG_DS077625,Friedreich ataxia 1
BMGC_DS19990,BMG_DS077627,Wolfram syndrome 2
BMGC_DS19991,BMG_DS077628,Bardet-Biedl syndrome 6
BMGC_DS19992,BMG_DS077629,inflammatory bowel disease 3
BMGC_DS19993,BMG_DS077630,nephronophthisis 3
BMGC_DS19994,BMG_DS077631,focal segmental glomerulosclerosis 2
BMGC_DS19995,BMG_DS077632,long QT syndrome 3
BMGC_DS19996,BMG_DS077633,Bardet-Biedl syndrome 7
BMGC_DS19997,BMG_DS077634,Bardet-Biedl syndrome 8
BMGC_DS19998,BMG_DS077635,Bardet-Biedl syndrome 9
BMGC_DS19999,BMG_DS077636,Bardet-Biedl syndrome 10
BMGC_DS20000,BMG_DS077637,Bardet-Biedl syndrome 11
BMGC_DS20001,BMG_DS077638,Bardet-Biedl syndrome 12
BMGC_DS20002,BMG_DS077639,atrichia with papular lesions
BMGC_DS20003,BMG_DS077640,arterial tortuosity syndrome
BMGC_DS20004,BMG_DS077642,distal arthrogryposis type 10
BMGC_DS20005,BMG_DS077643,orofacial cleft 1
BMGC_DS20006,BMG_DS077644,acromelic frontonasal dysostosis
BMGC_DS20007,BMG_DS077645,orofacial cleft 2
BMGC_DS20008,BMG_DS077646,retinitis pigmentosa 36
BMGC_DS20009,BMG_DS077647,holoprosencephaly 5
BMGC_DS20010,BMG_DS077648,retinal cone dystrophy 4
BMGC_DS20011,BMG_DS077649,nephronophthisis 2
BMGC_DS20012,BMG_DS077650,Friedreich ataxia 2
BMGC_DS20013,BMG_DS077651,orofacial cleft 10
BMGC_DS20014,BMG_DS077652,retinitis pigmentosa 19
BMGC_DS20015,BMG_DS077653,retinitis pigmentosa 9
BMGC_DS20016,BMG_DS077654,retinal cone dystrophy 1
BMGC_DS20017,BMG_DS077656,familial pterygium of the conjunctiva
BMGC_DS20018,BMG_DS077657,long QT syndrome 5
BMGC_DS20019,BMG_DS077658,Char syndrome
BMGC_DS20020,BMG_DS077659,parietal foramina
BMGC_DS20021,BMG_DS077660,CAKUT
BMGC_DS20022,BMG_DS077661,Joubert syndrome 7
BMGC_DS20023,BMG_DS077662,nephronophthisis 7
BMGC_DS20024,BMG_DS077663,multiple endocrine neoplasia type 4
BMGC_DS20025,BMG_DS077664,warfarin sensitivity
BMGC_DS20026,BMG_DS077665,Bardet-Biedl syndrome 13
BMGC_DS20027,BMG_DS077667,Leber congenital amaurosis 13
BMGC_DS20028,BMG_DS077668,orofacial cleft 11
BMGC_DS20029,BMG_DS077669,dystonia 16
BMGC_DS20030,BMG_DS077670,bestrophinopathy
BMGC_DS20031,BMG_DS077672,"spondyloepimetaphyseal dysplasia, Pakistani type"
BMGC_DS20032,BMG_DS077673,mitochondrial DNA depletion syndrome 5
BMGC_DS20033,BMG_DS077674,Parkinson's disease 14
BMGC_DS20034,BMG_DS077675,retinitis pigmentosa 42
BMGC_DS20035,BMG_DS077676,"46,XY sex reversal 4"
BMGC_DS20036,BMG_DS077677,inhalation anthrax
BMGC_DS20037,BMG_DS077679,achondrogenesis
BMGC_DS20038,BMG_DS077680,frontotemporal dementia and/or amyotrophic lateral sclerosis 7
BMGC_DS20039,BMG_DS077682,immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
BMGC_DS20040,BMG_DS077683,Larsen syndrome
BMGC_DS20041,BMG_DS077684,mitochondrial DNA depletion syndrome 5
BMGC_DS20042,BMG_DS077686,"Abdomen, Acute"
BMGC_DS20043,BMG_DS077688,Abdominal Neoplasms
BMGC_DS20044,BMG_DS077689,Congenital Abnormalities | obsolete congenital abnormality
BMGC_DS20045,BMG_DS077690,"Abnormalities, Drug-Induced"
BMGC_DS20046,BMG_DS077691,"Abnormalities, Multiple"
BMGC_DS20047,BMG_DS077693,"Abortion, Spontaneous"
BMGC_DS20048,BMG_DS077697,"Abortion, Threatened"
BMGC_DS20049,BMG_DS077698,Abruptio Placentae
BMGC_DS20050,BMG_DS077708,autism spectrum disorder
BMGC_DS20051,BMG_DS077723,Anterior Cruciate Ligament Injuries
BMGC_DS20052,BMG_DS077729,"Brain Injuries, Diffuse"
BMGC_DS20053,BMG_DS077731,"Brain Injuries, Traumatic"
BMGC_DS20054,BMG_DS077735,Hyperekplexia | hyperekplexia | hyperekplexia 1
BMGC_DS20055,BMG_DS077736,Anorectal Malformations
BMGC_DS20056,BMG_DS077752,ST Elevation Myocardial Infarction | ST-elevation myocardial infarction
BMGC_DS20057,BMG_DS077753,Ciliopathies
BMGC_DS20058,BMG_DS077756,Ankyloglossia | ankyloglossia
BMGC_DS20059,BMG_DS077757,Cancer Pain
BMGC_DS20060,BMG_DS077768,Meconium Ileus
BMGC_DS20061,BMG_DS077769,Opium Dependence
BMGC_DS20062,BMG_DS077773,Cardiac Conduction System Disease
BMGC_DS20063,BMG_DS077774,Heavy Metal Poisoning | heavy metal poisoning
BMGC_DS20064,BMG_DS077775,Immunoglobulin Light-chain Amyloidosis | immunoglobulin light chain amyloidosis
BMGC_DS20065,BMG_DS077778,Clinical Deterioration
BMGC_DS20066,BMG_DS077780,Drug Misuse
BMGC_DS20067,BMG_DS077782,Adenocarcinoma of Lung
BMGC_DS20068,BMG_DS077783,Squamous Cell Carcinoma of Head and Neck
BMGC_DS20069,BMG_DS077785,"Carcinoma, Ovarian Epithelial"
BMGC_DS20070,BMG_DS077786,Sleepiness
BMGC_DS20071,BMG_DS077787,"Thyroid Cancer, Papillary"
BMGC_DS20072,BMG_DS077788,Nasopharyngeal Carcinoma
BMGC_DS20073,BMG_DS077789,Esophageal Squamous Cell Carcinoma
BMGC_DS20074,BMG_DS077793,Body-Weight Trajectory
BMGC_DS20075,BMG_DS077794,Gestational Weight Gain
BMGC_DS20076,BMG_DS077812,Shwachman-Diamond Syndrome | Shwachman-Diamond syndrome
BMGC_DS20077,BMG_DS077813,Ototoxicity
BMGC_DS20078,BMG_DS077814,Pulmonary Arterial Hypertension
BMGC_DS20079,BMG_DS077832,Chemotherapy-Related Cognitive Impairment
BMGC_DS20080,BMG_DS077833,Hyperthermia
BMGC_DS20081,BMG_DS077834,"Mesothelioma, Malignant"
BMGC_DS20082,BMG_DS077835,Anosmia
BMGC_DS20083,BMG_DS077836,Rhinorrhea
BMGC_DS20084,BMG_DS077876,"Melanoma, Cutaneous Malignant"
BMGC_DS20085,BMG_DS077890,Uveal Melanoma
BMGC_DS20086,BMG_DS077899,Achondroplasia
BMGC_DS20087,BMG_DS077900,Acid-Base Imbalance
BMGC_DS20088,BMG_DS077901,Acidosis
BMGC_DS20089,BMG_DS077902,Acrodynia | infantile mercury poisoning
BMGC_DS20090,BMG_DS077904,Acute-Phase Reaction
BMGC_DS20091,BMG_DS077905,Adenocarcinoma
BMGC_DS20092,BMG_DS077909,Adenoma
BMGC_DS20093,BMG_DS077912,"Adenoma, Acidophil"
BMGC_DS20094,BMG_DS077913,Tissue Adhesions
BMGC_DS20095,BMG_DS077914,Adrenal Cortex Neoplasms
BMGC_DS20096,BMG_DS077915,Adrenal Insufficiency
BMGC_DS20097,BMG_DS077916,Adrenal Gland Neoplasms
BMGC_DS20098,BMG_DS077917,"Adrenal Hyperplasia, Congenital"
BMGC_DS20099,BMG_DS077921,Ageusia
BMGC_DS20100,BMG_DS077925,Albuminuria
BMGC_DS20101,BMG_DS077927,Alcoholic Intoxication
BMGC_DS20102,BMG_DS077928,Alcoholism
BMGC_DS20103,BMG_DS077929,"Alkalosis, Respiratory"
BMGC_DS20104,BMG_DS077930,"Alveolitis, Extrinsic Allergic"
BMGC_DS20105,BMG_DS077931,Ameloblastoma | ameloblastoma
BMGC_DS20106,BMG_DS077932,Amelogenesis Imperfecta
BMGC_DS20107,BMG_DS077933,Amenorrhea
BMGC_DS20108,BMG_DS077934,Amnesia
BMGC_DS20109,BMG_DS077935,"Amnesia, Retrograde"
BMGC_DS20110,BMG_DS077938,Anaphylaxis
BMGC_DS20111,BMG_DS077939,Anaplasia
BMGC_DS20112,BMG_DS077940,"Anemia, Dyserythropoietic, Congenital"
BMGC_DS20113,BMG_DS077941,"Anemia, Hypochromic"
BMGC_DS20114,BMG_DS077942,"Anemia, Refractory"
BMGC_DS20115,BMG_DS077943,"Anemia, Refractory, with Excess of Blasts"
BMGC_DS20116,BMG_DS077944,"Anemia, Sideroblastic"
BMGC_DS20117,BMG_DS077945,Anencephaly | anencephaly
BMGC_DS20118,BMG_DS077946,Aneuploidy
BMGC_DS20119,BMG_DS077947,Aneurysm
BMGC_DS20120,BMG_DS077948,Aortic Dissection
BMGC_DS20121,BMG_DS077949,Angina Pectoris
BMGC_DS20122,BMG_DS077950,Angiokeratoma
BMGC_DS20123,BMG_DS077951,Angioedema
BMGC_DS20124,BMG_DS077952,Aniseikonia | aniseikonia
BMGC_DS20125,BMG_DS077953,Ankylosis
BMGC_DS20126,BMG_DS077954,Anodontia
BMGC_DS20127,BMG_DS077956,Anophthalmos
BMGC_DS20128,BMG_DS077957,Hypoxia
BMGC_DS20129,BMG_DS077958,Anthrax
BMGC_DS20130,BMG_DS077959,Anus Neoplasms
BMGC_DS20131,BMG_DS077960,"Anus, Imperforate"
BMGC_DS20132,BMG_DS077961,Aortic Coarctation
BMGC_DS20133,BMG_DS077962,"Aortic Stenosis, Subvalvular"
BMGC_DS20134,BMG_DS077963,Aortic Valve Stenosis
BMGC_DS20135,BMG_DS077964,Aortopulmonary Septal Defect
BMGC_DS20136,BMG_DS077969,Aphonia
BMGC_DS20137,BMG_DS077970,Apnea
BMGC_DS20138,BMG_DS077974,Argyria | argyria
BMGC_DS20139,BMG_DS077976,Arnold-Chiari Malformation
BMGC_DS20140,BMG_DS077977,"Arrhythmia, Sinus"
BMGC_DS20141,BMG_DS077980,Arteriovenous Malformations | obsolete rare arteriovenous malformation
BMGC_DS20142,BMG_DS077981,Arteritis
BMGC_DS20143,BMG_DS077982,"Arthritis, Experimental"
BMGC_DS20144,BMG_DS077983,Arthrogryposis | arthrogryposis syndrome
BMGC_DS20145,BMG_DS077986,Asphyxia
BMGC_DS20146,BMG_DS077987,Asthenia
BMGC_DS20147,BMG_DS077989,Astrocytoma
BMGC_DS20148,BMG_DS077991,Atrial Flutter
BMGC_DS20149,BMG_DS077992,Atrophy
BMGC_DS20150,BMG_DS077993,Auditory Perceptual Disorders
BMGC_DS20151,BMG_DS077997,Bacteriuria
BMGC_DS20152,BMG_DS077999,Basal Cell Nevus Syndrome
BMGC_DS20153,BMG_DS078000,psychiatric disorder
BMGC_DS20154,BMG_DS078002,Bile Duct Neoplasms
BMGC_DS20155,BMG_DS078003,Biliary Atresia
BMGC_DS20156,BMG_DS078005,Biliary Tract Neoplasms
BMGC_DS20157,BMG_DS078007,Birth Weight
BMGC_DS20158,BMG_DS078010,Urinary Bladder Calculi
BMGC_DS20159,BMG_DS078012,Urinary Bladder Neck Obstruction
BMGC_DS20160,BMG_DS078013,Urinary Bladder Neoplasms
BMGC_DS20161,BMG_DS078014,Blast Crisis
BMGC_DS20162,BMG_DS078016,Blister
BMGC_DS20163,BMG_DS078019,Body Weight
BMGC_DS20164,BMG_DS078020,Body Weight Changes
BMGC_DS20165,BMG_DS078021,Bone Neoplasms
BMGC_DS20166,BMG_DS078022,Bone Resorption | bone resorption disease
BMGC_DS20167,BMG_DS078023,Bowen's Disease
BMGC_DS20168,BMG_DS078024,Bradycardia
BMGC_DS20169,BMG_DS078026,Brain Death
BMGC_DS20170,BMG_DS078027,Brain Edema
BMGC_DS20171,BMG_DS078028,Brain Injuries | brain injury
BMGC_DS20172,BMG_DS078029,Brain Neoplasms
BMGC_DS20173,BMG_DS078031,Breast Neoplasms
BMGC_DS20174,BMG_DS078035,Bronchial Neoplasms
BMGC_DS20175,BMG_DS078039,Bruxism
BMGC_DS20176,BMG_DS078040,Bulimia
BMGC_DS20177,BMG_DS078041,Burkitt Lymphoma
BMGC_DS20178,BMG_DS078043,Burns | burn
BMGC_DS20179,BMG_DS078044,"Burns, Chemical"
BMGC_DS20180,BMG_DS078047,Cachexia
BMGC_DS20181,BMG_DS078049,Cadmium Poisoning | cadmium poisoning
BMGC_DS20182,BMG_DS078050,Calcinosis
BMGC_DS20183,BMG_DS078051,Calculi
BMGC_DS20184,BMG_DS078054,"Candidiasis, Cutaneous | cutaneous candidiasis"
BMGC_DS20185,BMG_DS078055,"Candidiasis, Oral"
BMGC_DS20186,BMG_DS078056,Carbon Monoxide Poisoning
BMGC_DS20187,BMG_DS078057,Carbon Tetrachloride Poisoning
BMGC_DS20188,BMG_DS078059,Carcinoid Tumor
BMGC_DS20189,BMG_DS078060,Carcinoma
BMGC_DS20190,BMG_DS078061,Carcinoma in Situ
BMGC_DS20191,BMG_DS078062,"Carcinoma 256, Walker"
BMGC_DS20192,BMG_DS078063,"Carcinoma, Basal Cell"
BMGC_DS20193,BMG_DS078065,"Adenocarcinoma, Bronchiolo-Alveolar"
BMGC_DS20194,BMG_DS078066,"Carcinoma, Bronchogenic"
BMGC_DS20195,BMG_DS078068,"Carcinoma, Intraductal, Noninfiltrating"
BMGC_DS20196,BMG_DS078069,"Carcinoma, Ehrlich Tumor"
BMGC_DS20197,BMG_DS078071,"Adenocarcinoma, Mucinous"
BMGC_DS20198,BMG_DS078072,"Carcinoma, Non-Small-Cell Lung"
BMGC_DS20199,BMG_DS078073,"Carcinoma, Papillary"
BMGC_DS20200,BMG_DS078074,"Carcinoma, Renal Cell"
BMGC_DS20201,BMG_DS078076,"Carcinoma, Squamous Cell"
BMGC_DS20202,BMG_DS078077,"Carcinoma, Transitional Cell"
BMGC_DS20203,BMG_DS078078,Carcinosarcoma
BMGC_DS20204,BMG_DS078079,"Cardiac Output, Low"
BMGC_DS20205,BMG_DS078080,"Cardiomyopathy, Restrictive"
BMGC_DS20206,BMG_DS078082,Catalepsy
BMGC_DS20207,BMG_DS078083,Cecal Neoplasms
BMGC_DS20208,BMG_DS078084,"Cell Transformation, Neoplastic"
BMGC_DS20209,BMG_DS078087,Central Nervous System Diseases
BMGC_DS20210,BMG_DS078089,"Hypoxia, Brain"
BMGC_DS20211,BMG_DS078090,Intracranial Arteriovenous Malformations
BMGC_DS20212,BMG_DS078091,Cerebral Hemorrhage
BMGC_DS20213,BMG_DS078093,Uterine Cervical Dysplasia
BMGC_DS20214,BMG_DS078095,Uterine Cervical Neoplasms
BMGC_DS20215,BMG_DS078098,acquired hyperprolactinemia
BMGC_DS20216,BMG_DS078100,developmental disability
BMGC_DS20217,BMG_DS078102,Choanal Atresia
BMGC_DS20218,BMG_DS078103,"Adenoma, Bile Duct"
BMGC_DS20219,BMG_DS078104,Chondroblastoma
BMGC_DS20220,BMG_DS078105,Chondroma
BMGC_DS20221,BMG_DS078106,Chondrosarcoma
BMGC_DS20222,BMG_DS078107,Chordoma
BMGC_DS20223,BMG_DS078112,Choroid Hemorrhage
BMGC_DS20224,BMG_DS078113,Chromosome Aberrations
BMGC_DS20225,BMG_DS078114,Chromosome Deletion
BMGC_DS20226,BMG_DS078115,Chromosome Fragility
BMGC_DS20227,BMG_DS078117,Cleft Lip
BMGC_DS20228,BMG_DS078118,Cleft Palate
BMGC_DS20229,BMG_DS078119,Clubfoot
BMGC_DS20230,BMG_DS078124,Coloboma
BMGC_DS20231,BMG_DS078125,Colonic Neoplasms
BMGC_DS20232,BMG_DS078126,Colonic Polyps
BMGC_DS20233,BMG_DS078128,Communication Disorders
BMGC_DS20234,BMG_DS078129,Compartment Syndromes
BMGC_DS20235,BMG_DS078130,Confusion
BMGC_DS20236,BMG_DS078134,Consciousness Disorders
BMGC_DS20237,BMG_DS078135,Constipation
BMGC_DS20238,BMG_DS078136,"Constriction, Pathologic"
BMGC_DS20239,BMG_DS078137,Contracture | obsolete contracture
BMGC_DS20240,BMG_DS078141,Corneal Opacity
BMGC_DS20241,BMG_DS078142,Coronary Disease
BMGC_DS20242,BMG_DS078143,Coronary Vessel Anomalies
BMGC_DS20243,BMG_DS078144,Cough
BMGC_DS20244,BMG_DS078147,Craniopharyngioma
BMGC_DS20245,BMG_DS078148,Crigler-Najjar Syndrome
BMGC_DS20246,BMG_DS078151,Cryptorchidism
BMGC_DS20247,BMG_DS078152,Cyanosis
BMGC_DS20248,BMG_DS078153,"Carcinoma, Adenoid Cystic | adenoid cystic carcinoma"
BMGC_DS20249,BMG_DS078155,Cystadenoma
BMGC_DS20250,BMG_DS078156,Phyllodes Tumor
BMGC_DS20251,BMG_DS078157,Cysts
BMGC_DS20252,BMG_DS078158,"Hearing Loss, Sudden"
BMGC_DS20253,BMG_DS078159,Death
BMGC_DS20254,BMG_DS078160,"Death, Sudden"
BMGC_DS20255,BMG_DS078162,Pressure Ulcer
BMGC_DS20256,BMG_DS078163,Delirium
BMGC_DS20257,BMG_DS078164,Dementia
BMGC_DS20258,BMG_DS078171,"Dermatitis, Exfoliative"
BMGC_DS20259,BMG_DS078173,Dextrocardia
BMGC_DS20260,BMG_DS078174,"Diabetes Mellitus, Experimental"
BMGC_DS20261,BMG_DS078177,Diarrhea
BMGC_DS20262,BMG_DS078178,"Diarrhea, Infantile"
BMGC_DS20263,BMG_DS078179,Vipoma
BMGC_DS20264,BMG_DS078181,Digestive System Abnormalities
BMGC_DS20265,BMG_DS078182,Digestive System Neoplasms
BMGC_DS20266,BMG_DS078183,"Dilatation, Pathologic"
BMGC_DS20267,BMG_DS078185,"Disease Models, Animal"
BMGC_DS20268,BMG_DS078186,Disease Susceptibility
BMGC_DS20269,BMG_DS078189,Dizziness
BMGC_DS20270,BMG_DS078191,Drug Hypersensitivity
BMGC_DS20271,BMG_DS078192,"Ductus Arteriosus, Patent"
BMGC_DS20272,BMG_DS078194,"Dwarfism, Pituitary"
BMGC_DS20273,BMG_DS078195,Dysarthria
BMGC_DS20274,BMG_DS078197,Dysgeusia
BMGC_DS20275,BMG_DS078198,Dyslexia
BMGC_DS20276,BMG_DS078201,Dyspepsia
BMGC_DS20277,BMG_DS078203,Dyspnea
BMGC_DS20278,BMG_DS078204,Dystocia
BMGC_DS20279,BMG_DS078205,Dystonia
BMGC_DS20280,BMG_DS078207,Ear Neoplasms | auditory system cancer
BMGC_DS20281,BMG_DS078209,Ebstein Anomaly
BMGC_DS20282,BMG_DS078212,Ectopia Lentis
BMGC_DS20283,BMG_DS078213,Ectromelia
BMGC_DS20284,BMG_DS078214,Edema
BMGC_DS20285,BMG_DS078215,"Edema, Cardiac"
BMGC_DS20286,BMG_DS078217,Emaciation
BMGC_DS20287,BMG_DS078218,Embolism
BMGC_DS20288,BMG_DS078222,Emphysema
BMGC_DS20289,BMG_DS078224,Encephalocele
BMGC_DS20290,BMG_DS078227,Endocardial Cushion Defects
BMGC_DS20291,BMG_DS078229,Endomyocardial Fibrosis
BMGC_DS20292,BMG_DS078231,Ependymoma
BMGC_DS20293,BMG_DS078233,Epidermodysplasia Verruciformis
BMGC_DS20294,BMG_DS078234,Epidermolysis Bullosa
BMGC_DS20295,BMG_DS078236,Epistaxis
BMGC_DS20296,BMG_DS078242,"Leukemia, Erythroblastic, Acute"
BMGC_DS20297,BMG_DS078243,Esophageal Atresia
BMGC_DS20298,BMG_DS078247,Esophageal Neoplasms
BMGC_DS20299,BMG_DS078249,Exanthema
BMGC_DS20300,BMG_DS078250,"Exostoses, Multiple Hereditary"
BMGC_DS20301,BMG_DS078251,Extravasation of Diagnostic and Therapeutic Materials
BMGC_DS20302,BMG_DS078252,Eye Abnormalities
BMGC_DS20303,BMG_DS078253,Eye Burns
BMGC_DS20304,BMG_DS078254,Eye Diseases | visual impairment and progressive phthisis bulbi
BMGC_DS20305,BMG_DS078256,Eye Hemorrhage
BMGC_DS20306,BMG_DS078257,Eye Injuries
BMGC_DS20307,BMG_DS078258,Eye Manifestations
BMGC_DS20308,BMG_DS078259,Eye Neoplasms
BMGC_DS20309,BMG_DS078261,Facial Asymmetry
BMGC_DS20310,BMG_DS078262,Facial Injuries
BMGC_DS20311,BMG_DS078264,Facial Pain
BMGC_DS20312,BMG_DS078265,Factor V Deficiency
BMGC_DS20313,BMG_DS078266,Factor XI Deficiency
BMGC_DS20314,BMG_DS078267,Factor XIII Deficiency
BMGC_DS20315,BMG_DS078269,Fasciculation
BMGC_DS20316,BMG_DS078271,Fatigue
BMGC_DS20317,BMG_DS078274,Feminization
BMGC_DS20318,BMG_DS078275,Femoral Fractures
BMGC_DS20319,BMG_DS078278,Fetal Death
BMGC_DS20320,BMG_DS078279,Fetal Distress
BMGC_DS20321,BMG_DS078280,Fetal Growth Retardation
BMGC_DS20322,BMG_DS078281,Fetal Macrosomia
BMGC_DS20323,BMG_DS078284,Fever
BMGC_DS20324,BMG_DS078286,Fibroma | fibroma
BMGC_DS20325,BMG_DS078288,Fibrosarcoma
BMGC_DS20326,BMG_DS078289,Finger Injuries
BMGC_DS20327,BMG_DS078290,Fistula
BMGC_DS20328,BMG_DS078292,Flatfoot
BMGC_DS20329,BMG_DS078294,Fluoride Poisoning
BMGC_DS20330,BMG_DS078295,Flushing
BMGC_DS20331,BMG_DS078297,Follicular Cyst
BMGC_DS20332,BMG_DS078298,Foodborne Diseases
BMGC_DS20333,BMG_DS078301,"Foot Deformities, Congenital"
BMGC_DS20334,BMG_DS078305,Foreign-Body Reaction
BMGC_DS20335,BMG_DS078307,"Fractures, Closed"
BMGC_DS20336,BMG_DS078312,Fructose Intolerance
BMGC_DS20337,BMG_DS078316,Gallbladder Neoplasms
BMGC_DS20338,BMG_DS078318,Gas Poisoning
BMGC_DS20339,BMG_DS078319,Gastric Fistula
BMGC_DS20340,BMG_DS078320,Gastroesophageal Reflux
BMGC_DS20341,BMG_DS078321,Gastrointestinal Neoplasms
BMGC_DS20342,BMG_DS078322,"Genital Neoplasms, Female"
BMGC_DS20343,BMG_DS078325,Castleman Disease
BMGC_DS20344,BMG_DS078326,Tourette Syndrome
BMGC_DS20345,BMG_DS078327,Gingival Hemorrhage
BMGC_DS20346,BMG_DS078328,Gingival Hyperplasia
BMGC_DS20347,BMG_DS078331,Gingival Recession
BMGC_DS20348,BMG_DS078332,Glioblastoma
BMGC_DS20349,BMG_DS078333,Glioma
BMGC_DS20350,BMG_DS078334,Gliosis
BMGC_DS20351,BMG_DS078337,Glossalgia
BMGC_DS20352,BMG_DS078338,Glucagonoma
BMGC_DS20353,BMG_DS078339,Glucosephosphate Dehydrogenase Deficiency
BMGC_DS20354,BMG_DS078340,Glycosuria
BMGC_DS20355,BMG_DS078341,"Glycosuria, Renal"
BMGC_DS20356,BMG_DS078343,Gonadal Dysgenesis
BMGC_DS20357,BMG_DS078344,"Graft Occlusion, Vascular"
BMGC_DS20358,BMG_DS078345,Granuloma
BMGC_DS20359,BMG_DS078346,"Granuloma, Plasma Cell"
BMGC_DS20360,BMG_DS078347,Granulosa Cell Tumor
BMGC_DS20361,BMG_DS078348,Growth Disorders
BMGC_DS20362,BMG_DS078349,Halitosis
BMGC_DS20363,BMG_DS078350,Hallucinations
BMGC_DS20364,BMG_DS078352,Hamartoma
BMGC_DS20365,BMG_DS078355,"Hand Deformities, Congenital"
BMGC_DS20366,BMG_DS078357,"Rhinitis, Allergic, Seasonal"
BMGC_DS20367,BMG_DS078358,Head and Neck Neoplasms
BMGC_DS20368,BMG_DS078359,Craniocerebral Trauma
BMGC_DS20369,BMG_DS078360,Headache
BMGC_DS20370,BMG_DS078361,"Hearing Loss, Conductive"
BMGC_DS20371,BMG_DS078363,"Hearing Loss, Noise-Induced"
BMGC_DS20372,BMG_DS078364,"Hearing Loss, Sensorineural"
BMGC_DS20373,BMG_DS078365,"Heart Defects, Congenital"
BMGC_DS20374,BMG_DS078366,Cardiomegaly
BMGC_DS20375,BMG_DS078367,Heart Injuries
BMGC_DS20376,BMG_DS078369,Heart Septal Defects
BMGC_DS20377,BMG_DS078370,"Heart Septal Defects, Atrial"
BMGC_DS20378,BMG_DS078371,"Heart Septal Defects, Ventricular"
BMGC_DS20379,BMG_DS078372,Heart Valve Diseases
BMGC_DS20380,BMG_DS078373,Heartburn
BMGC_DS20381,BMG_DS078376,Hemangioendothelioma
BMGC_DS20382,BMG_DS078377,Hemangioma
BMGC_DS20383,BMG_DS078379,Hemangiopericytoma
BMGC_DS20384,BMG_DS078380,Hemangiosarcoma
BMGC_DS20385,BMG_DS078382,Hematemesis
BMGC_DS20386,BMG_DS078384,Hematoma
BMGC_DS20387,BMG_DS078385,"Hematoma, Epidural, Cranial"
BMGC_DS20388,BMG_DS078386,"Hematoma, Subdural"
BMGC_DS20389,BMG_DS078389,Hemoglobinuria
BMGC_DS20390,BMG_DS078390,Hemolysis
BMGC_DS20391,BMG_DS078391,Hemoperitoneum
BMGC_DS20392,BMG_DS078393,Hemorrhage
BMGC_DS20393,BMG_DS078395,Postpartum Hemorrhage
BMGC_DS20394,BMG_DS078396,Hemothorax
BMGC_DS20395,BMG_DS078397,"Carcinoma, Hepatocellular"
BMGC_DS20396,BMG_DS078398,Hepatomegaly
BMGC_DS20397,BMG_DS078400,"Hernia, Diaphragmatic"
BMGC_DS20398,BMG_DS078404,"Hernia, Umbilical | obsolete umbilical hernia"
BMGC_DS20399,BMG_DS078406,Heroin Dependence
BMGC_DS20400,BMG_DS078407,Herpes Simplex
BMGC_DS20401,BMG_DS078409,Hiccup
BMGC_DS20402,BMG_DS078414,Hip Fractures | hip fracture
BMGC_DS20403,BMG_DS078415,von Hippel-Lindau Disease
BMGC_DS20404,BMG_DS078416,HIV Seropositivity
BMGC_DS20405,BMG_DS078418,Hodgkin Disease | Hodgkins lymphoma
BMGC_DS20406,BMG_DS078420,Hydatidiform Mole
BMGC_DS20407,BMG_DS078421,Polyhydramnios
BMGC_DS20408,BMG_DS078422,Hydranencephaly
BMGC_DS20409,BMG_DS078424,Testicular Hydrocele
BMGC_DS20410,BMG_DS078427,Hyperalgesia
BMGC_DS20411,BMG_DS078428,Hypercapnia
BMGC_DS20412,BMG_DS078430,Hyperesthesia
BMGC_DS20413,BMG_DS078431,Hyperhidrosis
BMGC_DS20414,BMG_DS078432,Hyperkalemia
BMGC_DS20415,BMG_DS078433,Hyperphagia
BMGC_DS20416,BMG_DS078434,Hyperplasia
BMGC_DS20417,BMG_DS078435,Hypersensitivity
BMGC_DS20418,BMG_DS078436,"Hypersensitivity, Delayed"
BMGC_DS20419,BMG_DS078437,"Hypersensitivity, Immediate"
BMGC_DS20420,BMG_DS078438,Hypertelorism | obsolete hypertelorism
BMGC_DS20421,BMG_DS078439,Hypertension
BMGC_DS20422,BMG_DS078440,"Hypertension, Pulmonary"
BMGC_DS20423,BMG_DS078441,"Hypertension, Renal"
BMGC_DS20424,BMG_DS078442,Hypertrophy
BMGC_DS20425,BMG_DS078443,Hyperventilation
BMGC_DS20426,BMG_DS078444,Hypesthesia
BMGC_DS20427,BMG_DS078445,Hyphema
BMGC_DS20428,BMG_DS078446,Hypokalemia
BMGC_DS20429,BMG_DS078448,Hypospadias
BMGC_DS20430,BMG_DS078449,Hypotension
BMGC_DS20431,BMG_DS078451,Hypothermia
BMGC_DS20432,BMG_DS078452,Hypoventilation
BMGC_DS20433,BMG_DS078456,Immunoblastic Lymphadenopathy
BMGC_DS20434,BMG_DS078457,Immunoproliferative Disorders
BMGC_DS20435,BMG_DS078459,Erectile Dysfunction
BMGC_DS20436,BMG_DS078460,Incontinentia Pigmenti
BMGC_DS20437,BMG_DS078462,"Infant, Newborn, Diseases"
BMGC_DS20438,BMG_DS078463,Infarction
BMGC_DS20439,BMG_DS078464,Infections
BMGC_DS20440,BMG_DS078465,Infertility
BMGC_DS20441,BMG_DS078466,"Infertility, Male"
BMGC_DS20442,BMG_DS078467,Inflammation
BMGC_DS20443,BMG_DS078468,Insect Bites and Stings
BMGC_DS20444,BMG_DS078469,Insulin Resistance
BMGC_DS20445,BMG_DS078470,Insulinoma
BMGC_DS20446,BMG_DS078471,Intestinal Neoplasms
BMGC_DS20447,BMG_DS078472,Intestinal Polyps
BMGC_DS20448,BMG_DS078473,Intraoperative Complications
BMGC_DS20449,BMG_DS078475,Ischemia
BMGC_DS20450,BMG_DS078476,"Adenoma, Islet Cell"
BMGC_DS20451,BMG_DS078477,Jaw Abnormalities
BMGC_DS20452,BMG_DS078482,Joint Instability
BMGC_DS20453,BMG_DS078484,Kearns-Sayre Syndrome
BMGC_DS20454,BMG_DS078485,Keloid
BMGC_DS20455,BMG_DS078486,herpes simplex virus keratitis
BMGC_DS20456,BMG_DS078487,Keratoacanthoma
BMGC_DS20457,BMG_DS078488,Kidney Calculi
BMGC_DS20458,BMG_DS078489,Kidney Neoplasms
BMGC_DS20459,BMG_DS078493,Kyphosis
BMGC_DS20460,BMG_DS078495,"Obstetric Labor, Premature"
BMGC_DS20461,BMG_DS078496,Labyrinth Diseases
BMGC_DS20462,BMG_DS078497,Lacrimal Duct Obstruction
BMGC_DS20463,BMG_DS078498,"Lameness, Animal | lameness, non-human animal"
BMGC_DS20464,BMG_DS078499,Language Disorders
BMGC_DS20465,BMG_DS078500,Laryngeal Edema
BMGC_DS20466,BMG_DS078501,Laryngeal Neoplasms
BMGC_DS20467,BMG_DS078503,Lead Poisoning | lead poisoning
BMGC_DS20468,BMG_DS078504,Learning Disabilities
BMGC_DS20469,BMG_DS078507,Legg-Calve-Perthes Disease
BMGC_DS20470,BMG_DS078508,Leiomyoma
BMGC_DS20471,BMG_DS078509,Leiomyosarcoma
BMGC_DS20472,BMG_DS078510,"Leishmaniasis, Mucocutaneous"
BMGC_DS20473,BMG_DS078511,Leukemia
BMGC_DS20474,BMG_DS078512,Leukemia L1210
BMGC_DS20475,BMG_DS078515,"Leukemia, Experimental"
BMGC_DS20476,BMG_DS078516,"Leukemia, Hairy Cell"
BMGC_DS20477,BMG_DS078517,"Leukemia, Lymphoid"
BMGC_DS20478,BMG_DS078519,"Leukemia, Megakaryoblastic, Acute"
BMGC_DS20479,BMG_DS078520,"Leukemia, Monocytic, Acute"
BMGC_DS20480,BMG_DS078521,"Leukemia, Myeloid"
BMGC_DS20481,BMG_DS078523,"Leukemia, Radiation-Induced"
BMGC_DS20482,BMG_DS078525,"Leukoplakia, Oral"
BMGC_DS20483,BMG_DS078528,Leydig Cell Tumor
BMGC_DS20484,BMG_DS078529,Linitis Plastica
BMGC_DS20485,BMG_DS078531,Lipoma
BMGC_DS20486,BMG_DS078532,Liposarcoma
BMGC_DS20487,BMG_DS078533,"Liver Cirrhosis, Experimental"
BMGC_DS20488,BMG_DS078534,Liver Diseases
BMGC_DS20489,BMG_DS078535,Liver Neoplasms
BMGC_DS20490,BMG_DS078536,"Liver Neoplasms, Experimental"
BMGC_DS20491,BMG_DS078538,Long QT Syndrome
BMGC_DS20492,BMG_DS078539,Lordosis
BMGC_DS20493,BMG_DS078545,Lung Diseases
BMGC_DS20494,BMG_DS078546,Lung Neoplasms
BMGC_DS20495,BMG_DS078547,"Lupus Erythematosus, Discoid"
BMGC_DS20496,BMG_DS078551,Lymphatic Metastasis
BMGC_DS20497,BMG_DS078552,Lymphoma
BMGC_DS20498,BMG_DS078553,"Lymphoma, Follicular | follicular lymphoma"
BMGC_DS20499,BMG_DS078554,"Lymphoma, Non-Hodgkin"
BMGC_DS20500,BMG_DS078556,Lymphoproliferative Disorders
BMGC_DS20501,BMG_DS078557,Waldenstrom Macroglobulinemia | obsolete macroglobulinemia
BMGC_DS20502,BMG_DS078558,Macrostomia
BMGC_DS20503,BMG_DS078559,Macular Degeneration
BMGC_DS20504,BMG_DS078562,Malignant Hyperthermia
BMGC_DS20505,BMG_DS078563,Malocclusion
BMGC_DS20506,BMG_DS078567,"Mammary Neoplasms, Experimental"
BMGC_DS20507,BMG_DS078570,Mandibular Neoplasms
BMGC_DS20508,BMG_DS078572,Mastocytosis
BMGC_DS20509,BMG_DS078574,Maxillary Neoplasms
BMGC_DS20510,BMG_DS078575,Maxillary Sinus Neoplasms
BMGC_DS20511,BMG_DS078578,Mediastinal Neoplasms
BMGC_DS20512,BMG_DS078579,Medulloblastoma
BMGC_DS20513,BMG_DS078580,Megacolon
BMGC_DS20514,BMG_DS078582,Melanoma
BMGC_DS20515,BMG_DS078583,"Melanoma, Experimental"
BMGC_DS20516,BMG_DS078584,Melena
BMGC_DS20517,BMG_DS078585,Memory Disorders
BMGC_DS20518,BMG_DS078587,Meningioma
BMGC_DS20519,BMG_DS078588,Meningism
BMGC_DS20520,BMG_DS078590,Meningocele
BMGC_DS20521,BMG_DS078591,Meningomyelocele
BMGC_DS20522,BMG_DS078592,Menorrhagia
BMGC_DS20523,BMG_DS078593,Intellectual Disability
BMGC_DS20524,BMG_DS078594,Mercury Poisoning | mercury poisoning
BMGC_DS20525,BMG_DS078599,Mesothelioma
BMGC_DS20526,BMG_DS078600,Metaplasia
BMGC_DS20527,BMG_DS078601,Metrorrhagia
BMGC_DS20528,BMG_DS078602,Micrognathism
BMGC_DS20529,BMG_DS078603,Microphthalmos
BMGC_DS20530,BMG_DS078606,Monoclonal Gammopathy of Undetermined Significance
BMGC_DS20531,BMG_DS078607,Monosomy
BMGC_DS20532,BMG_DS078608,"Abnormalities, Severe Teratoid"
BMGC_DS20533,BMG_DS078610,Morphine Dependence
BMGC_DS20534,BMG_DS078611,"Fluorosis, Dental"
BMGC_DS20535,BMG_DS078612,Mouth Abnormalities
BMGC_DS20536,BMG_DS078613,Mouth Breathing
BMGC_DS20537,BMG_DS078614,Mouth Neoplasms
BMGC_DS20538,BMG_DS078616,Mucocele
BMGC_DS20539,BMG_DS078617,Multiple Myeloma
BMGC_DS20540,BMG_DS078619,Muscle Cramp
BMGC_DS20541,BMG_DS078620,Muscle Hypertonia
BMGC_DS20542,BMG_DS078621,Muscle Rigidity
BMGC_DS20543,BMG_DS078622,Muscle Spasticity
BMGC_DS20544,BMG_DS078623,Muscular Atrophy
BMGC_DS20545,BMG_DS078624,Musculoskeletal Abnormalities
BMGC_DS20546,BMG_DS078626,Mycosis Fungoides
BMGC_DS20547,BMG_DS078627,Myelodysplastic Syndromes
BMGC_DS20548,BMG_DS078628,Myeloproliferative Disorders
BMGC_DS20549,BMG_DS078630,Myoglobinuria | myoglobinuria | obsolete hereditary myoglobinuria
BMGC_DS20550,BMG_DS078631,Myoma
BMGC_DS20551,BMG_DS078633,Myotonia
BMGC_DS20552,BMG_DS078637,Opioid-Related Disorders
BMGC_DS20553,BMG_DS078638,Nasal Polyps
BMGC_DS20554,BMG_DS078639,Nasopharyngeal Neoplasms
BMGC_DS20555,BMG_DS078640,Nausea
BMGC_DS20556,BMG_DS078641,Necrosis
BMGC_DS20557,BMG_DS078643,Nematode Infections
BMGC_DS20558,BMG_DS078644,"Neoplastic Cells, Circulating"
BMGC_DS20559,BMG_DS078645,Neoplasm Invasiveness
BMGC_DS20560,BMG_DS078646,Neoplasm Metastasis
BMGC_DS20561,BMG_DS078647,"Neoplasm Recurrence, Local"
BMGC_DS20562,BMG_DS078648,"Neoplasm Regression, Spontaneous"
BMGC_DS20563,BMG_DS078649,Neoplasm Seeding
BMGC_DS20564,BMG_DS078650,Neoplasms
BMGC_DS20565,BMG_DS078652,Neoplasms by Site | organ system cancer
BMGC_DS20566,BMG_DS078654,"Neoplasms, Germ Cell and Embryonal | obsolete germ cell and embryonal cancer"
BMGC_DS20567,BMG_DS078655,"Neoplasms, Experimental"
BMGC_DS20568,BMG_DS078656,"Neoplasms, Glandular and Epithelial"
BMGC_DS20569,BMG_DS078657,"Neoplasms, Hormone-Dependent"
BMGC_DS20570,BMG_DS078658,Multiple Endocrine Neoplasia | multiple endocrine neoplasia
BMGC_DS20571,BMG_DS078662,"Neoplasms, Radiation-Induced"
BMGC_DS20572,BMG_DS078665,Neoplastic Processes
BMGC_DS20573,BMG_DS078667,"Neovascularization, Pathologic"
BMGC_DS20574,BMG_DS078668,Nerve Degeneration
BMGC_DS20575,BMG_DS078669,Nervous System Malformations
BMGC_DS20576,BMG_DS078670,Nervous System Diseases
BMGC_DS20577,BMG_DS078672,Neurilemmoma
BMGC_DS20578,BMG_DS078673,"Neuritis, Autoimmune, Experimental"
BMGC_DS20579,BMG_DS078674,Neuroblastoma
BMGC_DS20580,BMG_DS078675,Neurofibroma
BMGC_DS20581,BMG_DS078676,Neurofibromatosis 1
BMGC_DS20582,BMG_DS078677,Neurologic Manifestations
BMGC_DS20583,BMG_DS078680,Nevus
BMGC_DS20584,BMG_DS078682,"Nevus, Pigmented"
BMGC_DS20585,BMG_DS078684,"Nose Deformities, Acquired"
BMGC_DS20586,BMG_DS078685,Nose Neoplasms
BMGC_DS20587,BMG_DS078686,"Obesity, Morbid"
BMGC_DS20588,BMG_DS078689,Oligodendroglioma
BMGC_DS20589,BMG_DS078690,Oligomenorrhea
BMGC_DS20590,BMG_DS078696,Oropharyngeal Neoplasms
BMGC_DS20591,BMG_DS078697,"Ossification, Heterotopic"
BMGC_DS20592,BMG_DS078698,Osteolysis
BMGC_DS20593,BMG_DS078705,Ovarian Neoplasms
BMGC_DS20594,BMG_DS078707,"Paget Disease, Extramammary | cutaneous Paget disease | cutaneous Paget's disease"
BMGC_DS20595,BMG_DS078708,Pain
BMGC_DS20596,BMG_DS078709,"Pain, Intractable"
BMGC_DS20597,BMG_DS078713,Exocrine Pancreatic Insufficiency
BMGC_DS20598,BMG_DS078714,Pancreatic Neoplasms
BMGC_DS20599,BMG_DS078715,Papilloma
BMGC_DS20600,BMG_DS078716,Paraganglioma
BMGC_DS20601,BMG_DS078717,"Paraganglioma, Extra-Adrenal"
BMGC_DS20602,BMG_DS078718,Paralysis
BMGC_DS20603,BMG_DS078720,Paranasal Sinus Diseases
BMGC_DS20604,BMG_DS078722,Paraneoplastic Syndromes
BMGC_DS20605,BMG_DS078723,Parathyroid Neoplasms
BMGC_DS20606,BMG_DS078728,"Pemphigoid, Bullous"
BMGC_DS20607,BMG_DS078729,Penile Neoplasms
BMGC_DS20608,BMG_DS078730,Peptic Ulcer Hemorrhage | active peptic ulcer disease
BMGC_DS20609,BMG_DS078731,Perceptual Disorders
BMGC_DS20610,BMG_DS078735,Peritoneal Neoplasms
BMGC_DS20611,BMG_DS078736,Pharyngeal Neoplasms
BMGC_DS20612,BMG_DS078737,Phencyclidine Abuse
BMGC_DS20613,BMG_DS078738,Pheochromocytoma | pheochromocytoma
BMGC_DS20614,BMG_DS078739,Philadelphia Chromosome
BMGC_DS20615,BMG_DS078741,Pica
BMGC_DS20616,BMG_DS078742,Pierre Robin Syndrome
BMGC_DS20617,BMG_DS078743,Pilonidal Sinus
BMGC_DS20618,BMG_DS078745,Pituitary Neoplasms
BMGC_DS20619,BMG_DS078746,Placenta Accreta
BMGC_DS20620,BMG_DS078747,Placenta Diseases
BMGC_DS20621,BMG_DS078749,Plant Poisoning
BMGC_DS20622,BMG_DS078750,Plasmacytoma
BMGC_DS20623,BMG_DS078752,Pleural Effusion
BMGC_DS20624,BMG_DS078753,Pleural Neoplasms
BMGC_DS20625,BMG_DS078754,"Pneumonia, Pneumococcal"
BMGC_DS20626,BMG_DS078755,"Pneumonia, Pneumocystis"
BMGC_DS20627,BMG_DS078756,Rothmund-Thomson Syndrome
BMGC_DS20628,BMG_DS078757,Poisoning | poisoning
BMGC_DS20629,BMG_DS078758,Polycythemia Vera
BMGC_DS20630,BMG_DS078759,Polyploidy
BMGC_DS20631,BMG_DS078760,Polyps
BMGC_DS20632,BMG_DS078761,Polyuria
BMGC_DS20633,BMG_DS078765,Postoperative Complications
BMGC_DS20634,BMG_DS078766,Pre-Eclampsia
BMGC_DS20635,BMG_DS078767,Precancerous Conditions
BMGC_DS20636,BMG_DS078768,Prediabetic State
BMGC_DS20637,BMG_DS078769,Pregnancy Complications
BMGC_DS20638,BMG_DS078772,"Pregnancy, Ectopic"
BMGC_DS20639,BMG_DS078773,"Pregnancy, Prolonged"
BMGC_DS20640,BMG_DS078776,Prenatal Exposure Delayed Effects
BMGC_DS20641,BMG_DS078780,Prostatic Neoplasms
BMGC_DS20642,BMG_DS078781,Proteinuria
BMGC_DS20643,BMG_DS078782,Pruritus
BMGC_DS20644,BMG_DS078787,Psychomotor Agitation
BMGC_DS20645,BMG_DS078788,Psychomotor Disorders
BMGC_DS20646,BMG_DS078789,Psychophysiologic Disorders
BMGC_DS20647,BMG_DS078791,"Psychoses, Substance-Induced"
BMGC_DS20648,BMG_DS078792,Pterygium
BMGC_DS20649,BMG_DS078793,"Puberty, Delayed"
BMGC_DS20650,BMG_DS078794,Pulmonary Edema
BMGC_DS20651,BMG_DS078795,Pulmonary Heart Disease
BMGC_DS20652,BMG_DS078798,Pulmonary Veno-Occlusive Disease
BMGC_DS20653,BMG_DS078802,"Radiation Injuries, Experimental"
BMGC_DS20654,BMG_DS078806,Hyperacusis
BMGC_DS20655,BMG_DS078807,Rectal Fistula | anal fistula
BMGC_DS20656,BMG_DS078808,Rectal Neoplasms
BMGC_DS20657,BMG_DS078810,Recurrence
BMGC_DS20658,BMG_DS078811,"Reflex, Abnormal"
BMGC_DS20659,BMG_DS078813,Respiratory Hypersensitivity
BMGC_DS20660,BMG_DS078814,Respiratory Paralysis
BMGC_DS20661,BMG_DS078815,Respiratory Sounds
BMGC_DS20662,BMG_DS078817,Retinal Degeneration
BMGC_DS20663,BMG_DS078818,Retinal Hemorrhage
BMGC_DS20664,BMG_DS078819,Retinoblastoma
BMGC_DS20665,BMG_DS078820,Retrograde Degeneration
BMGC_DS20666,BMG_DS078821,Retroperitoneal Fibrosis
BMGC_DS20667,BMG_DS078822,Retroperitoneal Neoplasms
BMGC_DS20668,BMG_DS078824,Rhabdomyolysis | obsolete rhabdomyolysis
BMGC_DS20669,BMG_DS078825,Rhabdomyoma
BMGC_DS20670,BMG_DS078826,Rhabdomyosarcoma
BMGC_DS20671,BMG_DS078832,Rupture
BMGC_DS20672,BMG_DS078833,"Rupture, Spontaneous"
BMGC_DS20673,BMG_DS078836,Salivary Gland Neoplasms
BMGC_DS20674,BMG_DS078837,Salmonella Food Poisoning
BMGC_DS20675,BMG_DS078838,Salmonella Infections
BMGC_DS20676,BMG_DS078839,Sarcoma
BMGC_DS20677,BMG_DS078842,"Sarcoma, Ewing"
BMGC_DS20678,BMG_DS078843,"Sarcoma, Experimental"
BMGC_DS20679,BMG_DS078844,"Sarcoma, Kaposi"
BMGC_DS20680,BMG_DS078846,Osteosarcoma
BMGC_DS20681,BMG_DS078850,Sclerosis
BMGC_DS20682,BMG_DS078851,Scoliosis
BMGC_DS20683,BMG_DS078852,Scotoma
BMGC_DS20684,BMG_DS078853,Sebaceous Gland Neoplasms
BMGC_DS20685,BMG_DS078855,Self Mutilation
BMGC_DS20686,BMG_DS078858,"Sexual Dysfunction, Physiological"
BMGC_DS20687,BMG_DS078859,Sezary Syndrome
BMGC_DS20688,BMG_DS078860,Shock
BMGC_DS20689,BMG_DS078861,"Shock, Cardiogenic"
BMGC_DS20690,BMG_DS078862,"Shock, Hemorrhagic"
BMGC_DS20691,BMG_DS078864,"Shock, Traumatic"
BMGC_DS20692,BMG_DS078866,Sigmoid Neoplasms
BMGC_DS20693,BMG_DS078867,Signs and Symptoms
BMGC_DS20694,BMG_DS078868,"Signs and Symptoms, Digestive"
BMGC_DS20695,BMG_DS078869,"Signs and Symptoms, Respiratory"
BMGC_DS20696,BMG_DS078870,Situs Inversus
BMGC_DS20697,BMG_DS078871,Skin Abnormalities
BMGC_DS20698,BMG_DS078872,Skin Diseases
BMGC_DS20699,BMG_DS078873,Skin Manifestations
BMGC_DS20700,BMG_DS078874,Skin Neoplasms
BMGC_DS20701,BMG_DS078878,Sneezing
BMGC_DS20702,BMG_DS078880,Soft Tissue Neoplasms
BMGC_DS20703,BMG_DS078882,Spasm
BMGC_DS20704,BMG_DS078883,"Spherocytosis, Hereditary"
BMGC_DS20705,BMG_DS078884,Spinal Cord Injuries | spinal cord injury
BMGC_DS20706,BMG_DS078886,Spinal Curvatures
BMGC_DS20707,BMG_DS078890,Splenic Neoplasms
BMGC_DS20708,BMG_DS078892,Splenomegaly
BMGC_DS20709,BMG_DS078893,"Spondylitis, Ankylosing"
BMGC_DS20710,BMG_DS078895,Starvation
BMGC_DS20711,BMG_DS078897,Stomach Neoplasms
BMGC_DS20712,BMG_DS078898,Stomach Ulcer
BMGC_DS20713,BMG_DS078900,Subcutaneous Emphysema
BMGC_DS20714,BMG_DS078903,Substance Withdrawal Syndrome
BMGC_DS20715,BMG_DS078904,Sudden Infant Death | obsolete sudden infant death syndrome
BMGC_DS20716,BMG_DS078905,Sunburn
BMGC_DS20717,BMG_DS078907,Suppuration
BMGC_DS20718,BMG_DS078909,Surgical Wound Infection
BMGC_DS20719,BMG_DS078911,Sweat Gland Neoplasms
BMGC_DS20720,BMG_DS078912,"Pathological Conditions, Signs and Symptoms"
BMGC_DS20721,BMG_DS078913,Syndactyly
BMGC_DS20722,BMG_DS078916,"Sarcoma, Synovial"
BMGC_DS20723,BMG_DS078918,Tachycardia
BMGC_DS20724,BMG_DS078919,"Tachycardia, Supraventricular"
BMGC_DS20725,BMG_DS078920,Telangiectasis
BMGC_DS20726,BMG_DS078921,Tendon Injuries
BMGC_DS20727,BMG_DS078923,Testicular Neoplasms
BMGC_DS20728,BMG_DS078924,Tetralogy of Fallot
BMGC_DS20729,BMG_DS078928,Thoracic Neoplasms
BMGC_DS20730,BMG_DS078929,Thromboembolism
BMGC_DS20731,BMG_DS078930,Thrombosis | thrombosis
BMGC_DS20732,BMG_DS078931,Thymoma
BMGC_DS20733,BMG_DS078932,Thymus Neoplasms
BMGC_DS20734,BMG_DS078934,Thyroid Neoplasms
BMGC_DS20735,BMG_DS078935,"Thyroiditis, Autoimmune"
BMGC_DS20736,BMG_DS078937,Tibial Fractures | tibia fracture
BMGC_DS20737,BMG_DS078938,Tobacco Use Disorder
BMGC_DS20738,BMG_DS078939,Tongue Neoplasms
BMGC_DS20739,BMG_DS078943,Tooth Abnormalities
BMGC_DS20740,BMG_DS078944,Tooth Abrasion
BMGC_DS20741,BMG_DS078945,Tooth Discoloration
BMGC_DS20742,BMG_DS078953,Toothache
BMGC_DS20743,BMG_DS078955,Torticollis
BMGC_DS20744,BMG_DS078956,Toxemia
BMGC_DS20745,BMG_DS078958,Tracheoesophageal Fistula
BMGC_DS20746,BMG_DS078959,"Translocation, Genetic"
BMGC_DS20747,BMG_DS078960,Transposition of Great Vessels
BMGC_DS20748,BMG_DS078962,Tremor
BMGC_DS20749,BMG_DS078963,trichotillomania
BMGC_DS20750,BMG_DS078964,Trichuriasis
BMGC_DS20751,BMG_DS078966,Trisomy
BMGC_DS20752,BMG_DS078968,"Truncus Arteriosus, Persistent"
BMGC_DS20753,BMG_DS078969,Tuberous Sclerosis
BMGC_DS20754,BMG_DS078971,"Twins, Conjoined"
BMGC_DS20755,BMG_DS078972,Ulcer
BMGC_DS20756,BMG_DS078974,Unconsciousness
BMGC_DS20757,BMG_DS078975,Ureteral Diseases
BMGC_DS20758,BMG_DS078976,Ureteral Neoplasms
BMGC_DS20759,BMG_DS078977,Ureteral Obstruction
BMGC_DS20760,BMG_DS078980,Urinary Calculi
BMGC_DS20761,BMG_DS078982,Urinary Incontinence
BMGC_DS20762,BMG_DS078983,Urinary Tract Infections | urinary tract infection
BMGC_DS20763,BMG_DS078984,Urogenital Abnormalities
BMGC_DS20764,BMG_DS078985,Urogenital Neoplasms | obsolete urogenital neoplasm
BMGC_DS20765,BMG_DS078986,Urologic Neoplasms
BMGC_DS20766,BMG_DS078988,Uterine Hemorrhage
BMGC_DS20767,BMG_DS078990,Uterine Neoplasms
BMGC_DS20768,BMG_DS078992,Uterine Rupture
BMGC_DS20769,BMG_DS078994,"Uveitis, Anterior"
BMGC_DS20770,BMG_DS078996,Vaginal Neoplasms
BMGC_DS20771,BMG_DS078997,Varicose Veins
BMGC_DS20772,BMG_DS079000,Virilism
BMGC_DS20773,BMG_DS079002,Vomiting
BMGC_DS20774,BMG_DS079004,Vulvar Neoplasms
BMGC_DS20775,BMG_DS079005,Wallerian Degeneration
BMGC_DS20776,BMG_DS079006,Water-Electrolyte Imbalance
BMGC_DS20777,BMG_DS079007,Granulomatosis with Polyangiitis
BMGC_DS20778,BMG_DS079010,Wounds and Injuries | injury
BMGC_DS20779,BMG_DS079013,"Wounds, Penetrating"
BMGC_DS20780,BMG_DS079017,Xeroderma Pigmentosum
BMGC_DS20781,BMG_DS079024,Supratentorial Neoplasms
BMGC_DS20782,BMG_DS079026,Prolactinoma
BMGC_DS20783,BMG_DS079027,Colorectal Neoplasms
BMGC_DS20784,BMG_DS079029,"Osteoarthritis, Hip"
BMGC_DS20785,BMG_DS079030,Smoke Inhalation Injury
BMGC_DS20786,BMG_DS079031,"Carcinoma, Merkel Cell"
BMGC_DS20787,BMG_DS079032,Churg-Strauss Syndrome
BMGC_DS20788,BMG_DS079033,Gastrinoma
BMGC_DS20789,BMG_DS079034,Reperfusion Injury | ischemia reperfusion injury
BMGC_DS20790,BMG_DS079035,Myocardial Reperfusion Injury
BMGC_DS20791,BMG_DS079036,Weight Gain
BMGC_DS20792,BMG_DS079037,Weight Loss
BMGC_DS20793,BMG_DS079040,"Leukemia, Lymphocytic, Chronic, B-Cell"
BMGC_DS20794,BMG_DS079041,Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
BMGC_DS20795,BMG_DS079043,"Leukemia, T-Cell"
BMGC_DS20796,BMG_DS079044,"Leukemia-Lymphoma, Adult T-Cell"
BMGC_DS20797,BMG_DS079045,"Leukemia, Prolymphocytic, T-Cell"
BMGC_DS20798,BMG_DS079047,"Leukemia, Myelogenous, Chronic, BCR-ABL Positive"
BMGC_DS20799,BMG_DS079048,"Leukemia, Myeloid, Accelerated Phase"
BMGC_DS20800,BMG_DS079051,"Leukemia, Myeloid, Acute"
BMGC_DS20801,BMG_DS079054,"Leukemia, Promyelocytic, Acute"
BMGC_DS20802,BMG_DS079055,"Leukemia, Myelomonocytic, Chronic"
BMGC_DS20803,BMG_DS079056,"Leukemia, Myelomonocytic, Acute"
BMGC_DS20804,BMG_DS079057,Choledochal Cyst
BMGC_DS20805,BMG_DS079058,Histiocytosis
BMGC_DS20806,BMG_DS079060,"Histiocytosis, Sinus"
BMGC_DS20807,BMG_DS079061,Respiratory System Abnormalities
BMGC_DS20808,BMG_DS079063,Mycotoxicosis | mycotoxicosis
BMGC_DS20809,BMG_DS079064,"Mammary Neoplasms, Animal | mammary neoplasms, animal"
BMGC_DS20810,BMG_DS079067,"Granuloma, Foreign-Body"
BMGC_DS20811,BMG_DS079068,Abdominal Pain
BMGC_DS20812,BMG_DS079070,Aniridia
BMGC_DS20813,BMG_DS079071,Retinal Dysplasia
BMGC_DS20814,BMG_DS079074,"Substance Abuse, Intravenous"
BMGC_DS20815,BMG_DS079076,Osteochondroma
BMGC_DS20816,BMG_DS079079,Anisocoria
BMGC_DS20817,BMG_DS079080,Miosis
BMGC_DS20818,BMG_DS079081,Mydriasis
BMGC_DS20819,BMG_DS079082,Urinary Retention
BMGC_DS20820,BMG_DS079083,"Blood Loss, Surgical"
BMGC_DS20821,BMG_DS079085,Oligohydramnios
BMGC_DS20822,BMG_DS079086,"Albinism, Oculocutaneous | oculocutaneous albinism"
BMGC_DS20823,BMG_DS079087,"Albinism, Ocular | ocular albinism 1"
BMGC_DS20824,BMG_DS079088,Spinal Dysraphism
BMGC_DS20825,BMG_DS079089,Spina Bifida Occulta | spina bifida occulta
BMGC_DS20826,BMG_DS079090,Spina Bifida Cystica
BMGC_DS20827,BMG_DS079091,Holoprosencephaly
BMGC_DS20828,BMG_DS079092,Oral Fistula
BMGC_DS20829,BMG_DS079093,Respiratory Tract Fistula
BMGC_DS20830,BMG_DS079097,Tooth Loss
BMGC_DS20831,BMG_DS079098,"Lymphoma, B-Cell"
BMGC_DS20832,BMG_DS079099,"Lymphoma, T-Cell"
BMGC_DS20833,BMG_DS079101,"Lymphoma, Large B-Cell, Diffuse | diffuse large B-cell lymphoma"
BMGC_DS20834,BMG_DS079102,"Lymphoma, T-Cell, Cutaneous | primary cutaneous T-cell non-Hodgkin lymphoma"
BMGC_DS20835,BMG_DS079103,"Lymphoma, T-Cell, Peripheral"
BMGC_DS20836,BMG_DS079105,Bacteremia
BMGC_DS20837,BMG_DS079106,"Lymphoma, AIDS-Related"
BMGC_DS20838,BMG_DS079108,"Pemphigus, Benign Familial"
BMGC_DS20839,BMG_DS079110,Neurofibromatosis 2
BMGC_DS20840,BMG_DS079111,"Cardiac Output, High"
BMGC_DS20841,BMG_DS079112,Central Nervous System Neoplasms
BMGC_DS20842,BMG_DS079114,"Purpura, Thrombocytopenic, Idiopathic"
BMGC_DS20843,BMG_DS079116,seasonal affective disorder
BMGC_DS20844,BMG_DS079122,"Neoplasms, Second Primary"
BMGC_DS20845,BMG_DS079125,"Plasma Cell Granuloma, Pulmonary"
BMGC_DS20846,BMG_DS079126,"Death, Sudden, Cardiac"
BMGC_DS20847,BMG_DS079129,herpes simplex virus keratitis
BMGC_DS20848,BMG_DS079130,Hypocapnia
BMGC_DS20849,BMG_DS079131,Endometrial Neoplasms
BMGC_DS20850,BMG_DS079133,IgA Deficiency
BMGC_DS20851,BMG_DS079137,"Ophthalmoplegia, Chronic Progressive External"
BMGC_DS20852,BMG_DS079138,Neurofibromatoses
BMGC_DS20853,BMG_DS079139,Leukemic Infiltration
BMGC_DS20854,BMG_DS079142,Acneiform Eruptions
BMGC_DS20855,BMG_DS079143,"Keratosis, Seborrheic"
BMGC_DS20856,BMG_DS079144,Hyperpigmentation
BMGC_DS20857,BMG_DS079145,Hypopigmentation
BMGC_DS20858,BMG_DS079147,Iliac Aneurysm
BMGC_DS20859,BMG_DS079148,"Aortic Aneurysm, Abdominal"
BMGC_DS20860,BMG_DS079149,"Aortic Aneurysm, Thoracic"
BMGC_DS20861,BMG_DS079153,Neuroectodermal Tumors
BMGC_DS20862,BMG_DS079155,Polydactyly
BMGC_DS20863,BMG_DS079158,"Lymphoma, Large-Cell, Anaplastic"
BMGC_DS20864,BMG_DS079159,Lymphomatoid Papulosis
BMGC_DS20865,BMG_DS079164,"Limb Deformities, Congenital"
BMGC_DS20866,BMG_DS079168,Glucose Intolerance
BMGC_DS20867,BMG_DS079171,Lymphangioleiomyomatosis
BMGC_DS20868,BMG_DS079176,Hepatoblastoma
BMGC_DS20869,BMG_DS079179,"Mixed Tumor, Mullerian"
BMGC_DS20870,BMG_DS079187,"Liposarcoma, Myxoid"
BMGC_DS20871,BMG_DS079190,"Chondrosarcoma, Mesenchymal"
BMGC_DS20872,BMG_DS079191,Giant Cell Tumor of Bone
BMGC_DS20873,BMG_DS079192,"Neoplasms, Bone Tissue"
BMGC_DS20874,BMG_DS079197,"Neoplasms, Fibrous Tissue"
BMGC_DS20875,BMG_DS079198,"Histiocytoma, Benign Fibrous"
BMGC_DS20876,BMG_DS079200,"Fibromatosis, Abdominal"
BMGC_DS20877,BMG_DS079201,Desmoid Tumors
BMGC_DS20878,BMG_DS079205,Fibroadenoma
BMGC_DS20879,BMG_DS079206,"Sarcoma, Clear Cell"
BMGC_DS20880,BMG_DS079209,"Leiomyoma, Epithelioid"
BMGC_DS20881,BMG_DS079211,"Rhabdomyosarcoma, Alveolar"
BMGC_DS20882,BMG_DS079212,"Rhabdomyosarcoma, Embryonal"
BMGC_DS20883,BMG_DS079213,"Sarcoma, Alveolar Soft Part"
BMGC_DS20884,BMG_DS079214,Smooth Muscle Tumor
BMGC_DS20885,BMG_DS079215,"Carcinoma, Embryonal"
BMGC_DS20886,BMG_DS079218,Seminoma
BMGC_DS20887,BMG_DS079219,Endodermal Sinus Tumor
BMGC_DS20888,BMG_DS079220,"Neuroectodermal Tumors, Primitive, Peripheral"
BMGC_DS20889,BMG_DS079221,"Neuroectodermal Tumors, Primitive"
BMGC_DS20890,BMG_DS079222,Teratocarcinoma
BMGC_DS20891,BMG_DS079224,Adrenocortical Adenoma
BMGC_DS20892,BMG_DS079225,"Adenoma, Liver Cell"
BMGC_DS20893,BMG_DS079226,"Adenoma, Oxyphilic"
BMGC_DS20894,BMG_DS079233,Adenomatous Polyps
BMGC_DS20895,BMG_DS079235,"Adenocarcinoma, Clear Cell"
BMGC_DS20896,BMG_DS079236,"Adenocarcinoma, Follicular"
BMGC_DS20897,BMG_DS079240,Adrenocortical Carcinoma
BMGC_DS20898,BMG_DS079241,"Carcinoma, Endometrioid"
BMGC_DS20899,BMG_DS079242,"Carcinoma, Ductal, Breast"
BMGC_DS20900,BMG_DS079244,"Carcinoma, Lobular"
BMGC_DS20901,BMG_DS079245,"Carcinoma, Medullary"
BMGC_DS20902,BMG_DS079246,"Carcinoma, Mucoepidermoid"
BMGC_DS20903,BMG_DS079250,Cholangiocarcinoma
BMGC_DS20904,BMG_DS079256,"Carcinoma, Large Cell"
BMGC_DS20905,BMG_DS079257,"Carcinoma, Small Cell"
BMGC_DS20906,BMG_DS079264,Pilomatrixoma
BMGC_DS20907,BMG_DS079269,"Neoplasms, Mesothelial"
BMGC_DS20908,BMG_DS079275,"Neoplasms, Squamous Cell"
BMGC_DS20909,BMG_DS079282,Gliosarcoma
BMGC_DS20910,BMG_DS079283,Nerve Sheath Neoplasms
BMGC_DS20911,BMG_DS079284,"Neurofibroma, Plexiform"
BMGC_DS20912,BMG_DS079285,Neurofibrosarcoma
BMGC_DS20913,BMG_DS079288,"Hemangioendothelioma, Epithelioid"
BMGC_DS20914,BMG_DS079290,Hemangioblastoma
BMGC_DS20915,BMG_DS079291,Nevi and Melanomas
BMGC_DS20916,BMG_DS079293,"Melanoma, Amelanotic"
BMGC_DS20917,BMG_DS079297,"Nevus, Epithelioid and Spindle Cell"
BMGC_DS20918,BMG_DS079299,Rhabdoid Tumor
BMGC_DS20919,BMG_DS079300,Neuroendocrine Tumors
BMGC_DS20920,BMG_DS079301,"Neoplasm, Residual"
BMGC_DS20921,BMG_DS079302,Cardiovascular Abnormalities
BMGC_DS20922,BMG_DS079305,"Lymphoma, B-Cell, Marginal Zone | marginal zone lymphoma"
BMGC_DS20923,BMG_DS079306,Disease Progression
BMGC_DS20924,BMG_DS079308,Hypokinesia
BMGC_DS20925,BMG_DS079309,"Ventricular Dysfunction, Left"
BMGC_DS20926,BMG_DS079310,Hyperoxia
BMGC_DS20927,BMG_DS079311,"Ventricular Dysfunction, Right"
BMGC_DS20928,BMG_DS079312,"Breast Neoplasms, Male"
BMGC_DS20929,BMG_DS079315,"Vitreoretinopathy, Proliferative"
BMGC_DS20930,BMG_DS079317,Stomatognathic System Abnormalities
BMGC_DS20931,BMG_DS079318,Tooth Injuries
BMGC_DS20932,BMG_DS079319,Ventricular Dysfunction
BMGC_DS20933,BMG_DS079320,Multiple Endocrine Neoplasia Type 1
BMGC_DS20934,BMG_DS079321,Tricuspid Atresia | tricuspid atresia
BMGC_DS20935,BMG_DS079322,"Anemia, Iron-Deficiency"
BMGC_DS20936,BMG_DS079323,Multiple Endocrine Neoplasia Type 2a
BMGC_DS20937,BMG_DS079324,Multiple Endocrine Neoplasia Type 2b
BMGC_DS20938,BMG_DS079325,"Carcinoma, Lewis Lung"
BMGC_DS20939,BMG_DS079326,Ventricular Premature Complexes
BMGC_DS20940,BMG_DS079327,Heat Stress Disorders
BMGC_DS20941,BMG_DS079328,Heat Stroke
BMGC_DS20942,BMG_DS079331,Muscle Weakness
BMGC_DS20943,BMG_DS079333,Vascular Neoplasms
BMGC_DS20944,BMG_DS079334,Bone Marrow Neoplasms
BMGC_DS20945,BMG_DS079335,Prostatic Intraepithelial Neoplasia
BMGC_DS20946,BMG_DS079337,Facies
BMGC_DS20947,BMG_DS079338,Cafe-au-Lait Spots
BMGC_DS20948,BMG_DS079339,Postoperative Hemorrhage
BMGC_DS20949,BMG_DS079344,Pseudolymphoma
BMGC_DS20950,BMG_DS079346,Hematologic Neoplasms
BMGC_DS20951,BMG_DS079347,Port-Wine Stain
BMGC_DS20952,BMG_DS079348,Chromosome Breakage
BMGC_DS20953,BMG_DS079349,Craniofacial Abnormalities
BMGC_DS20954,BMG_DS079351,Neck Pain
BMGC_DS20955,BMG_DS079355,Multiple System Atrophy
BMGC_DS20956,BMG_DS079356,Hot Flashes
BMGC_DS20957,BMG_DS079357,Intracranial Hypertension
BMGC_DS20958,BMG_DS079358,"Aging, Premature"
BMGC_DS20959,BMG_DS079361,Maxillofacial Abnormalities
BMGC_DS20960,BMG_DS079363,Neurobehavioral Manifestations
BMGC_DS20961,BMG_DS079364,Substance-Related Disorders
BMGC_DS20962,BMG_DS079365,Amphetamine-Related Disorders
BMGC_DS20963,BMG_DS079366,Cocaine-Related Disorders
BMGC_DS20964,BMG_DS079367,Genetic Predisposition to Disease
BMGC_DS20965,BMG_DS079370,Neurogenic Inflammation
BMGC_DS20966,BMG_DS079371,Acquired Hyperostosis Syndrome
BMGC_DS20967,BMG_DS079373,Putaminal Hemorrhage
BMGC_DS20968,BMG_DS079374,Manganese Poisoning | manganese poisoning
BMGC_DS20969,BMG_DS079375,Ornithine Carbamoyltransferase Deficiency Disease
BMGC_DS20970,BMG_DS079378,"Trauma, Nervous System | nervous system injury"
BMGC_DS20971,BMG_DS079380,"Intracranial Hemorrhage, Traumatic"
BMGC_DS20972,BMG_DS079381,"Hematoma, Subdural, Acute"
BMGC_DS20973,BMG_DS079382,"Hematoma, Subdural, Chronic"
BMGC_DS20974,BMG_DS079383,"Brain Hemorrhage, Traumatic"
BMGC_DS20975,BMG_DS079392,Cerebrovascular Trauma | vascular brain injury
BMGC_DS20976,BMG_DS079395,Optic Nerve Injuries
BMGC_DS20977,BMG_DS079397,Serotonin Syndrome
BMGC_DS20978,BMG_DS079399,Gait Ataxia
BMGC_DS20979,BMG_DS079400,"Amnesia, Transient Global"
BMGC_DS20980,BMG_DS079404,Postoperative Nausea and Vomiting
BMGC_DS20981,BMG_DS079405,Choroidal Neovascularization
BMGC_DS20982,BMG_DS079406,Ventricular Remodeling
BMGC_DS20983,BMG_DS079407,Neurotoxicity Syndromes | toxic encephalopathy
BMGC_DS20984,BMG_DS079408,"Heavy Metal Poisoning, Nervous System"
BMGC_DS20985,BMG_DS079409,"Lead Poisoning, Nervous System"
BMGC_DS20986,BMG_DS079410,"Papilloma, Choroid Plexus"
BMGC_DS20987,BMG_DS079411,Brain Stem Neoplasms
BMGC_DS20988,BMG_DS079413,Intracranial Hemorrhages | obsolete intracranial hemorrhage
BMGC_DS20989,BMG_DS079415,Tics
BMGC_DS20990,BMG_DS079417,Paraparesis
BMGC_DS20991,BMG_DS079418,"Paraparesis, Spastic"
BMGC_DS20992,BMG_DS079420,Lithiasis
BMGC_DS20993,BMG_DS079422,"Nystagmus, Congenital"
BMGC_DS20994,BMG_DS079423,Olfactory Nerve Diseases
BMGC_DS20995,BMG_DS079425,Hypokalemic Periodic Paralysis
BMGC_DS20996,BMG_DS079426,Fetal Weight
BMGC_DS20997,BMG_DS079429,Amaurosis Fugax
BMGC_DS20998,BMG_DS079430,"Pathological Conditions, Anatomical"
BMGC_DS20999,BMG_DS079432,"Hemangioma, Cavernous, Central Nervous System"
BMGC_DS21000,BMG_DS079435,Photophobia
BMGC_DS21001,BMG_DS079438,Neuromuscular Manifestations
BMGC_DS21002,BMG_DS079439,Hypovolemia
BMGC_DS21003,BMG_DS079440,Korsakoff Syndrome
BMGC_DS21004,BMG_DS079442,Embryo Loss
BMGC_DS21005,BMG_DS079444,Wheat Hypersensitivity | obsolete wheat allergic disease
BMGC_DS21006,BMG_DS079445,Peanut Hypersensitivity | obsolete peanut allergic reaction
BMGC_DS21007,BMG_DS079446,"Carcinoma, Pancreatic Ductal"
BMGC_DS21008,BMG_DS079447,Flank Pain
BMGC_DS21009,BMG_DS079448,"Aortic Stenosis, Supravalvular"
BMGC_DS21010,BMG_DS079449,Hyperammonemia
BMGC_DS21011,BMG_DS079451,Chills
BMGC_DS21012,BMG_DS079452,chlamydia infectious disease
BMGC_DS21013,BMG_DS079453,"Gonadal Dysgenesis, 46,XX"
BMGC_DS21014,BMG_DS079458,"Anemia, Hypoplastic, Congenital"
BMGC_DS21015,BMG_DS079460,Human papillomavirus infectious disease | Papillomavirus Infections
BMGC_DS21016,BMG_DS079463,Gestational Trophoblastic Disease | obsolete gestational trophoblastic disease
BMGC_DS21017,BMG_DS079465,Hearing Loss
BMGC_DS21018,BMG_DS079466,"Mastocytosis, Systemic"
BMGC_DS21019,BMG_DS079469,Ciguatera Poisoning | ciguatera fish poisoning
BMGC_DS21020,BMG_DS079472,"Lower Extremity Deformities, Congenital"
BMGC_DS21021,BMG_DS079473,"Upper Extremity Deformities, Congenital"
BMGC_DS21022,BMG_DS079475,X-Linked Intellectual Disability
BMGC_DS21023,BMG_DS079476,Coffin-Lowry Syndrome
BMGC_DS21024,BMG_DS079477,Genomic Instability
BMGC_DS21025,BMG_DS079478,Gallstones
BMGC_DS21026,BMG_DS079479,Chromosomal Instability
BMGC_DS21027,BMG_DS079482,Lymphatic Abnormalities
BMGC_DS21028,BMG_DS079483,"Carcinoma, Ductal"
BMGC_DS21029,BMG_DS079484,Reticulocytosis
BMGC_DS21030,BMG_DS079489,"Hypertension, Pregnancy-Induced"
BMGC_DS21031,BMG_DS079491,Gastrointestinal Stromal Tumors
BMGC_DS21032,BMG_DS079492,"Hernia, Abdominal"
BMGC_DS21033,BMG_DS079497,"Hematoma, Epidural, Spinal"
BMGC_DS21034,BMG_DS079502,Premature Birth
BMGC_DS21035,BMG_DS079503,Hepatic Insufficiency
BMGC_DS21036,BMG_DS079504,"Micronuclei, Chromosome-Defective"
BMGC_DS21037,BMG_DS079507,"Plagiocephaly, Nonsynostotic"
BMGC_DS21038,BMG_DS079508,Prenatal Injuries
BMGC_DS21039,BMG_DS079514,Growth Hormone-Secreting Pituitary Adenoma
BMGC_DS21040,BMG_DS079515,ACTH-Secreting Pituitary Adenoma
BMGC_DS21041,BMG_DS079516,Overweight
BMGC_DS21042,BMG_DS079520,Stillbirth
BMGC_DS21043,BMG_DS079521,"Fractures, Bone | bone fracture"
BMGC_DS21044,BMG_DS079524,Post-Dural Puncture Headache
BMGC_DS21045,BMG_DS079525,Mobility Limitation
BMGC_DS21046,BMG_DS079526,"Neuralgia, Postherpetic"
BMGC_DS21047,BMG_DS079527,Hemospermia
BMGC_DS21048,BMG_DS079530,"Histiocytoma, Malignant Fibrous"
BMGC_DS21049,BMG_DS079532,Mucositis | mucositis
BMGC_DS21050,BMG_DS079537,Dysuria
BMGC_DS21051,BMG_DS079539,Nocturnal Enuresis
BMGC_DS21052,BMG_DS079541,"Ectodermal Dysplasia 1, Anhidrotic"
BMGC_DS21053,BMG_DS079542,"Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive"
BMGC_DS21054,BMG_DS079545,Ichthyosis Bullosa of Siemens
BMGC_DS21055,BMG_DS079546,Hypercalciuria
BMGC_DS21056,BMG_DS079550,Stupor
BMGC_DS21057,BMG_DS079551,Lethargy
BMGC_DS21058,BMG_DS079552,Aspermia
BMGC_DS21059,BMG_DS079554,Microsatellite Instability
BMGC_DS21060,BMG_DS079555,"Leukemia, Large Granular Lymphocytic"
BMGC_DS21061,BMG_DS079556,Vascular Malformations
BMGC_DS21062,BMG_DS079559,Lissencephaly
BMGC_DS21063,BMG_DS079562,Arachnodactyly
BMGC_DS21064,BMG_DS079563,"Sinus Arrest, Cardiac"
BMGC_DS21065,BMG_DS079565,Precursor Cell Lymphoblastic Leukemia-Lymphoma
BMGC_DS21066,BMG_DS079566,Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
BMGC_DS21067,BMG_DS079568,No-Reflow Phenomenon
BMGC_DS21068,BMG_DS079569,Sertoli Cell-Only Syndrome | X-linked spermatogenic failure 1
BMGC_DS21069,BMG_DS079571,Solitary Fibrous Tumors
BMGC_DS21070,BMG_DS079572,"Lymphoma, Extranodal NK-T-Cell"
BMGC_DS21071,BMG_DS079574,"Leukemia, Myelomonocytic, Juvenile"
BMGC_DS21072,BMG_DS079575,Myelodysplastic-Myeloproliferative Diseases | myelodysplastic/myeloproliferative disease
BMGC_DS21073,BMG_DS079576,"Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative"
BMGC_DS21074,BMG_DS079580,Hyperphosphatemia
BMGC_DS21075,BMG_DS079585,Histiocytic Sarcoma | histiocytic sarcoma
BMGC_DS21076,BMG_DS079587,Primary Dysautonomias | primary dysautonomia
BMGC_DS21077,BMG_DS079588,Orthostatic Intolerance
BMGC_DS21078,BMG_DS079590,Pallister-Hall Syndrome
BMGC_DS21079,BMG_DS079591,Primary Graft Dysfunction
BMGC_DS21080,BMG_DS079594,Delayed Emergence from Anesthesia
BMGC_DS21081,BMG_DS079596,Acute Lung Injury | acute lung injury
BMGC_DS21082,BMG_DS079600,"Keratosis, Actinic"
BMGC_DS21083,BMG_DS079601,Muir-Torre Syndrome
BMGC_DS21084,BMG_DS079602,Primary Myelofibrosis
BMGC_DS21085,BMG_DS079603,Small Cell Lung Carcinoma
BMGC_DS21086,BMG_DS079605,Lynch Syndrome II
BMGC_DS21087,BMG_DS079614,"Obesity, Abdominal"
BMGC_DS21088,BMG_DS079616,Airway Remodeling
BMGC_DS21089,BMG_DS079622,Costello Syndrome
BMGC_DS21090,BMG_DS079623,Silver-Russell Syndrome
BMGC_DS21091,BMG_DS079624,Prolidase Deficiency
BMGC_DS21092,BMG_DS079625,Monilethrix
BMGC_DS21093,BMG_DS079626,Renal Colic
BMGC_DS21094,BMG_DS079628,Barth Syndrome
BMGC_DS21095,BMG_DS079634,Shellfish Poisoning
BMGC_DS21096,BMG_DS079637,Wet Macular Degeneration
BMGC_DS21097,BMG_DS079638,Frontotemporal Lobar Degeneration
BMGC_DS21098,BMG_DS079640,Frontotemporal Dementia
BMGC_DS21099,BMG_DS079642,Eosinophilic Esophagitis
BMGC_DS21100,BMG_DS079644,Vascular System Injuries
BMGC_DS21101,BMG_DS079656,Dent Disease
BMGC_DS21102,BMG_DS079657,"Plaque, Amyloid"
BMGC_DS21103,BMG_DS079658,"Plaque, Atherosclerotic"
BMGC_DS21104,BMG_DS079659,Tungiasis | tungiasis
BMGC_DS21105,BMG_DS079661,Desmoplastic Small Round Cell Tumor
BMGC_DS21106,BMG_DS079662,Neointima
BMGC_DS21107,BMG_DS079664,Eye Pain
BMGC_DS21108,BMG_DS079665,Retinal Telangiectasis
BMGC_DS21109,BMG_DS079666,Sotos Syndrome
BMGC_DS21110,BMG_DS079667,Smith-Magenis Syndrome | Smith-Magenis syndrome
BMGC_DS21111,BMG_DS079668,Fraser Syndrome | Fraser syndrome
BMGC_DS21112,BMG_DS079669,Enteropathy-Associated T-Cell Lymphoma
BMGC_DS21113,BMG_DS079676,Megalencephaly
BMGC_DS21114,BMG_DS079682,Aberrant Crypt Foci
BMGC_DS21115,BMG_DS079683,Inflammatory Breast Neoplasms
BMGC_DS21116,BMG_DS079686,Nociceptive Pain
BMGC_DS21117,BMG_DS079688,Tachypnea
BMGC_DS21118,BMG_DS079691,Brachydactyly | brachydactyly
BMGC_DS21119,BMG_DS079692,Peripheral Nerve Injuries
BMGC_DS21120,BMG_DS079693,Musculoskeletal Pain
BMGC_DS21121,BMG_DS079694,Mastodynia
BMGC_DS21122,BMG_DS079698,Anhedonia
BMGC_DS21123,BMG_DS079700,Polydipsia
BMGC_DS21124,BMG_DS079706,"Angina, Stable"
BMGC_DS21125,BMG_DS079710,Dyscalculia | dyscalculia
BMGC_DS21126,BMG_DS079717,Agenesis of Corpus Callosum
BMGC_DS21127,BMG_DS079718,Vascular Calcification
BMGC_DS21128,BMG_DS079719,Neoplasm Micrometastasis
BMGC_DS21129,BMG_DS079733,Hereditary Breast and Ovarian Cancer Syndrome
BMGC_DS21130,BMG_DS079736,Organophosphate Poisoning
BMGC_DS21131,BMG_DS079739,Steatocystoma Multiplex | steatocystoma multiplex
BMGC_DS21132,BMG_DS079741,Lipoblastoma
BMGC_DS21133,BMG_DS079743,Drug Overdose
BMGC_DS21134,BMG_DS079745,Maternal Death
BMGC_DS21135,BMG_DS079747,Retrognathia
BMGC_DS21136,BMG_DS079749,Binge Drinking
BMGC_DS21137,BMG_DS079752,Carcinogenesis
BMGC_DS21138,BMG_DS079753,Myalgia
BMGC_DS21139,BMG_DS079756,"Prostatic Neoplasms, Castration-Resistant | castration-resistant prostate carcinoma"
BMGC_DS21140,BMG_DS079760,Chemically-Induced Disorders | obsolete chemically-induced disorder
BMGC_DS21141,BMG_DS079761,Drug-Related Side Effects and Adverse Reactions
BMGC_DS21142,BMG_DS079762,Triple Negative Breast Neoplasms
BMGC_DS21143,BMG_DS079765,Teratogenesis
BMGC_DS21144,BMG_DS079771,Corneal Injuries
BMGC_DS21145,BMG_DS079778,"Hernias, Diaphragmatic, Congenital"
BMGC_DS21146,BMG_DS079779,"Rhinitis, Allergic"
BMGC_DS21147,BMG_DS079781,"Thyroid Carcinoma, Anaplastic"
BMGC_DS21148,BMG_DS079784,Polymicrogyria | polymicrogyria
BMGC_DS21149,BMG_DS079785,Schizencephaly
BMGC_DS21150,BMG_DS079787,Congenital Microtia
BMGC_DS21151,BMG_DS079789,Perinatal Death
BMGC_DS21152,BMG_DS079790,Infant Death
BMGC_DS21153,BMG_DS079791,Cardiotoxicity
BMGC_DS21154,BMG_DS079794,Vascular Remodeling
BMGC_DS21155,BMG_DS079795,"Protein Aggregation, Pathological"
BMGC_DS21156,BMG_DS079796,acrokeratosis verruciformis
BMGC_DS21157,BMG_DS079797,adenylosuccinase lyase deficiency
BMGC_DS21158,BMG_DS079798,pseudohypoparathyroidism type 1A
BMGC_DS21159,BMG_DS079799,alcohol dependence
BMGC_DS21160,BMG_DS079800,Finnish type amyloidosis
BMGC_DS21161,BMG_DS079801,CST3-related cerebral amyloid angiopathy
BMGC_DS21162,BMG_DS079802,familial visceral amyloidosis
BMGC_DS21163,BMG_DS079803,intracranial berry aneurysm 1
BMGC_DS21164,BMG_DS079804,hereditary angioedema type I
BMGC_DS21165,BMG_DS079805,isolated anhidrosis with normal sweat glands
BMGC_DS21166,BMG_DS079806,aniridia 1
BMGC_DS21167,BMG_DS079807,ankylosing spondylitis 1
BMGC_DS21168,BMG_DS079808,nonsyndromic aplasia cutis congenita
BMGC_DS21169,BMG_DS079809,Stickler syndrome 1
BMGC_DS21170,BMG_DS079810,spermatogenic failure 2
BMGC_DS21171,BMG_DS079811,spastic ataxia 1
BMGC_DS21172,BMG_DS079812,spastic ataxia 7
BMGC_DS21173,BMG_DS079813,atelosteogenesis
BMGC_DS21174,BMG_DS079814,androgenic alopecia
BMGC_DS21175,BMG_DS079815,nevoid basal cell carcinoma syndrome 1
BMGC_DS21176,BMG_DS079816,primary biliary cholangitis 1
BMGC_DS21177,BMG_DS079817,aortic valve disease 1
BMGC_DS21178,BMG_DS079818,brachydactyly type B1
BMGC_DS21179,BMG_DS079819,brachydactyly type D
BMGC_DS21180,BMG_DS079820,brachydactyly type E1
BMGC_DS21181,BMG_DS079821,branchiooculofacial syndrome
BMGC_DS21182,BMG_DS079822,branchiootorenal syndrome 1
BMGC_DS21183,BMG_DS079823,progressive familial heart block type IA
BMGC_DS21184,BMG_DS079824,small intestine carcinoid neuroendocrine tumor
BMGC_DS21185,BMG_DS079825,progressive familial heart block
BMGC_DS21186,BMG_DS079826,cardiofaciocutaneous syndrome 1
BMGC_DS21187,BMG_DS079827,hypertrophic cardiomyopathy 2
BMGC_DS21188,BMG_DS079828,hypertrophic cardiomyopathy 3
BMGC_DS21189,BMG_DS079829,hypertrophic cardiomyopathy 4
BMGC_DS21190,BMG_DS079830,dilated cardiomyopathy 1A
BMGC_DS21191,BMG_DS079831,restrictive cardiomyopathy 1
BMGC_DS21192,BMG_DS079832,cerebral cavernous malformation 1
BMGC_DS21193,BMG_DS079833,leukocyte adhesion deficiency 1
BMGC_DS21194,BMG_DS079834,spinocerebellar ataxia type 31
BMGC_DS21195,BMG_DS079835,ITM2B-related cerebral amyloid angiopathy 2
BMGC_DS21196,BMG_DS079836,spinocerebellar ataxia type 29
BMGC_DS21197,BMG_DS079837,Sotos syndrome 1
BMGC_DS21198,BMG_DS079838,Klippel-Feil syndrome 1
BMGC_DS21199,BMG_DS079839,familial chylomicronemia due to inhibition of lipoprotein lipase activity
BMGC_DS21200,BMG_DS079840,cone-rod dystrophy 2
BMGC_DS21201,BMG_DS079841,familial febrile seizures 1
BMGC_DS21202,BMG_DS079842,granular corneal dystrophy 1
BMGC_DS21203,BMG_DS079843,Cornelia de Lange syndrome 1
BMGC_DS21204,BMG_DS079844,warfarin resistance
BMGC_DS21205,BMG_DS079845,autosomal dominant craniodiaphyseal dysplasia
BMGC_DS21206,BMG_DS079846,craniosynostosis 1
BMGC_DS21207,BMG_DS079847,isolated elevated serum creatine phosphokinase levels
BMGC_DS21208,BMG_DS079848,Beare-Stevenson cutis gyrata syndrome
BMGC_DS21209,BMG_DS079849,autosomal dominant congenital deafness with onychodystrophy
BMGC_DS21210,BMG_DS079850,nephrogenic diabetes insipidus type 2
BMGC_DS21211,BMG_DS079851,maturity-onset diabetes of the young type 1
BMGC_DS21212,BMG_DS079852,maturity-onset diabetes of the young type 2
BMGC_DS21213,BMG_DS079853,Kenny-Caffey syndrome type 2
BMGC_DS21214,BMG_DS079854,Ehlers-Danlos syndrome classic type 2
BMGC_DS21215,BMG_DS079855,vascular type Ehlers-Danlos syndrome
BMGC_DS21216,BMG_DS079856,Ehlers-Danlos syndrome spondylodysplastic type 1
BMGC_DS21217,BMG_DS079857,autosomal dominant dystrophic epidermolysis bullosa
BMGC_DS21218,BMG_DS079858,epidermolysis bullosa simplex localized type
BMGC_DS21219,BMG_DS079859,pretibial dystrophic epidermolysis bullosa
BMGC_DS21220,BMG_DS079860,spinocerebellar ataxia type 34
BMGC_DS21221,BMG_DS079861,Cockayne syndrome B
BMGC_DS21222,BMG_DS079862,autosomal hemophilia A
BMGC_DS21223,BMG_DS079863,congenital fibrosis of the extraocular muscles 1
BMGC_DS21224,BMG_DS079864,adermatoglyphia
BMGC_DS21225,BMG_DS079865,frontonasal dysplasia 1
BMGC_DS21226,BMG_DS079866,Gamstorp-Wohlfart syndrome
BMGC_DS21227,BMG_DS079867,extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
BMGC_DS21228,BMG_DS079868,iridogoniodysgenesis syndrome
BMGC_DS21229,BMG_DS079869,maturity-onset diabetes of the young type 5
BMGC_DS21230,BMG_DS079870,hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
BMGC_DS21231,BMG_DS079871,multinodular goiter
BMGC_DS21232,BMG_DS079872,Heinz body anemia
BMGC_DS21233,BMG_DS079873,benign familial hematuria
BMGC_DS21234,BMG_DS079874,familial hepatic adenoma
BMGC_DS21235,BMG_DS079875,developmental dysplasia of the hip 1
BMGC_DS21236,BMG_DS079876,spondyloepiphyseal dysplasia with congenital joint dislocations
BMGC_DS21237,BMG_DS079877,epidermolytic palmoplantar keratoderma 1
BMGC_DS21238,BMG_DS079878,familial apolipoprotein A5 deficiency
BMGC_DS21239,BMG_DS079879,nonpapillary renal cell carcinoma
BMGC_DS21240,BMG_DS079880,familial progressive hyperpigmentation with or without hypopigmentation
BMGC_DS21241,BMG_DS079881,Teebi hypertelorism syndrome 1
BMGC_DS21242,BMG_DS079882,dystransthyretinemic hyperthyroxinemia
BMGC_DS21243,BMG_DS079883,Charcot-Marie-Tooth disease type 3
BMGC_DS21244,BMG_DS079884,adult hypophosphatasia
BMGC_DS21245,BMG_DS079885,hypotrichosis 2
BMGC_DS21246,BMG_DS079886,hypotrichosis 4
BMGC_DS21247,BMG_DS079887,solitary median maxillary central incisor
BMGC_DS21248,BMG_DS079888,punctate palmoplantar keratoderma type I
BMGC_DS21249,BMG_DS079889,Bart-Pumphrey syndrome
BMGC_DS21250,BMG_DS079890,lacrimoauriculodentodigital syndrome 1
BMGC_DS21251,BMG_DS079891,Noonan syndrome with multiple lentigines 1
BMGC_DS21252,BMG_DS079892,nonsyndromic congenital nail disorder 3
BMGC_DS21253,BMG_DS079893,Li-Fraumeni syndrome 1
BMGC_DS21254,BMG_DS079894,hereditary lymphedema IA
BMGC_DS21255,BMG_DS079895,age related macular degeneration 2
BMGC_DS21256,BMG_DS079896,Treacher Collins syndrome 1
BMGC_DS21257,BMG_DS079897,Jansen's metaphyseal chondrodysplasia
BMGC_DS21258,BMG_DS079898,Schmid metaphyseal chondrodysplasia
BMGC_DS21259,BMG_DS079899,autosomal dominant progressive external ophthalmoplegia 1
BMGC_DS21260,BMG_DS079900,autosomal dominant distal hereditary motor neuronopathy 7
BMGC_DS21261,BMG_DS079901,spinal muscular atrophy with lower extremity predominant 1
BMGC_DS21262,BMG_DS079902,facioscapulohumeral muscular dystrophy 2
BMGC_DS21263,BMG_DS079903,episodic ataxia type 1
BMGC_DS21264,BMG_DS079904,centronuclear myopathy 1
BMGC_DS21265,BMG_DS079905,distal myopathy 1
BMGC_DS21266,BMG_DS079906,Thomsen disease
BMGC_DS21267,BMG_DS079908,nonsyndromic congenital nail disorder 1
BMGC_DS21268,BMG_DS079909,nemaline myopathy 3
BMGC_DS21269,BMG_DS079910,familial juvenile hyperuricemic nephropathy
BMGC_DS21270,BMG_DS079911,hereditary sensory and autonomic neuropathy type 1A
BMGC_DS21271,BMG_DS079912,stork bite
BMGC_DS21272,BMG_DS079913,congenital nystagmus 2
BMGC_DS21273,BMG_DS079914,spinocerebellar ataxia type 1
BMGC_DS21274,BMG_DS079915,spinocerebellar ataxia type 7
BMGC_DS21275,BMG_DS079916,nonsyndromic congenital nail disorder 5
BMGC_DS21276,BMG_DS079918,optic atrophy 1
BMGC_DS21277,BMG_DS079919,inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
BMGC_DS21278,BMG_DS079920,polycystic kidney disease 1
BMGC_DS21279,BMG_DS079921,polycystic liver disease 1
BMGC_DS21280,BMG_DS079922,preaxial polydactyly I
BMGC_DS21281,BMG_DS079923,preaxial polydactyly II
BMGC_DS21282,BMG_DS079924,preaxial polydactyly type IV
BMGC_DS21283,BMG_DS079925,juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
BMGC_DS21284,BMG_DS079926,familial adenomatous polyposis 1
BMGC_DS21285,BMG_DS079927,brain small vessel disease 1
BMGC_DS21286,BMG_DS079928,punctate palmoplantar keratoderma type II
BMGC_DS21287,BMG_DS079929,ITM2B-related cerebral amyloid angiopathy 1
BMGC_DS21288,BMG_DS079930,psoriasis 1
BMGC_DS21289,BMG_DS079931,"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A"
BMGC_DS21290,BMG_DS079932,retinal arterial tortuosity
BMGC_DS21291,BMG_DS079933,schizophrenia 1
BMGC_DS21292,BMG_DS079934,hereditary spherocytosis type 1
BMGC_DS21293,BMG_DS079935,spinocerebellar ataxia type 6
BMGC_DS21294,BMG_DS079936,spinocerebellar ataxia type 2
BMGC_DS21295,BMG_DS079937,autosomal dominant spondyloepiphyseal dysplasia tarda
BMGC_DS21296,BMG_DS079938,"spondyloepimetaphyseal dysplasia, Strudwick type"
BMGC_DS21297,BMG_DS079939,"otospondylomegaepiphyseal dysplasia, autosomal dominant"
BMGC_DS21298,BMG_DS079940,overhydrated hereditary stomatocytosis
BMGC_DS21299,BMG_DS079941,syndactyly type 1
BMGC_DS21300,BMG_DS079942,multiple synostoses syndrome 1
BMGC_DS21301,BMG_DS079943,beta-thalassemia major | thalassemia minor
BMGC_DS21302,BMG_DS079944,prothrombin thrombophilia
BMGC_DS21303,BMG_DS079945,esophageal atresia/tracheoesophageal fistula
BMGC_DS21304,BMG_DS079946,familial isolated trichomegaly
BMGC_DS21305,BMG_DS079947,trichorhinophalangeal syndrome type III
BMGC_DS21306,BMG_DS079948,uric acid urolithiasis
BMGC_DS21307,BMG_DS079949,hypertrophic cardiomyopathy 1
BMGC_DS21308,BMG_DS079950,autosomal dominant hypophosphatemic rickets
BMGC_DS21309,BMG_DS079951,Watson syndrome
BMGC_DS21310,BMG_DS079952,distal arthrogryposis type 2A
BMGC_DS21311,BMG_DS079953,autosomal dominant woolly hair
BMGC_DS21312,BMG_DS079954,acheiropody
BMGC_DS21313,BMG_DS079955,achondrogenesis type IA
BMGC_DS21314,BMG_DS079956,"acromesomelic dysplasia, Grebe type"
BMGC_DS21315,BMG_DS079957,"acromesomelic dysplasia, Hunter-Thompson type"
BMGC_DS21316,BMG_DS079958,hereditary sensory and autonomic neuropathy type 2A
BMGC_DS21317,BMG_DS079959,short chain acyl-CoA dehydrogenase deficiency
BMGC_DS21318,BMG_DS079960,very long chain acyl-CoA dehydrogenase deficiency
BMGC_DS21319,BMG_DS079961,glucocorticoid deficiency 1
BMGC_DS21320,BMG_DS079962,peroxisome biogenesis disorder 2B
BMGC_DS21321,BMG_DS079963,severe congenital neutropenia 1
BMGC_DS21322,BMG_DS079964,oculocutaneous albinism type IA
BMGC_DS21323,BMG_DS079965,Hermansky-Pudlak syndrome 1
BMGC_DS21324,BMG_DS079966,corticosterone methyloxidase deficiency 1
BMGC_DS21325,BMG_DS079967,alopecia-mental retardation syndrome 1
BMGC_DS21326,BMG_DS079968,2-aminoadipic 2-oxoadipic aciduria
BMGC_DS21327,BMG_DS079969,juvenile amyotrophic lateral sclerosis with dementia
BMGC_DS21328,BMG_DS079970,pyridoxine-responsive sideroblastic anemia
BMGC_DS21329,BMG_DS079971,hypochromic microcytic anemia
BMGC_DS21330,BMG_DS079972,Antley-Bixler syndrome without disordered steroidogenesis
BMGC_DS21331,BMG_DS079973,"arthrogryposis, renal dysfunction, and cholestasis 1"
BMGC_DS21332,BMG_DS079974,fetal akinesia deformation sequence syndrome 1
BMGC_DS21333,BMG_DS079975,atransferrinemia
BMGC_DS21334,BMG_DS079976,atrophoderma vermiculata
BMGC_DS21335,BMG_DS079977,Elsahy-Waters syndrome
BMGC_DS21336,BMG_DS079978,Fazio-Londe disease
BMGC_DS21337,BMG_DS079979,Brown-Vialetto-Van Laere syndrome 1
BMGC_DS21338,BMG_DS079980,hereditary arterial and articular multiple calcification syndrome
BMGC_DS21339,BMG_DS079981,congenital disorder of glycosylation Ia
BMGC_DS21340,BMG_DS079982,optic disc anomalies with retinal and/or macular dystrophy
BMGC_DS21341,BMG_DS079983,Joubert syndrome 1
BMGC_DS21342,BMG_DS079984,cerebrooculofacioskeletal syndrome 1
BMGC_DS21343,BMG_DS079985,Klippel-Feil syndrome 2
BMGC_DS21344,BMG_DS079986,metaphyseal dysplasia
BMGC_DS21345,BMG_DS079987,classic citrullinemia
BMGC_DS21346,BMG_DS079988,Cockayne syndrome A
BMGC_DS21347,BMG_DS079989,congenital hereditary endothelial dystrophy of cornea
BMGC_DS21348,BMG_DS079990,autosomal recessive craniometaphyseal dysplasia
BMGC_DS21349,BMG_DS079991,ACTH-independent macronodular adrenal hyperplasia 1
BMGC_DS21350,BMG_DS079992,autosomal-mitochondrial sensorineural deafness
BMGC_DS21351,BMG_DS079993,combined pituitary hormone deficiency 3
BMGC_DS21352,BMG_DS079994,familial erythrocytosis 8
BMGC_DS21353,BMG_DS079995,Dyggve-Melchior-Clausen disease
BMGC_DS21354,BMG_DS079996,"ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome"
BMGC_DS21355,BMG_DS079997,Ehlers-Danlos syndrome cardiac valvular type
BMGC_DS21356,BMG_DS079998,Ehlers-Danlos syndrome kyphoscoliotic type 1
BMGC_DS21357,BMG_DS079999,Fanconi anemia complementation group A
BMGC_DS21358,BMG_DS080000,infantile myofibromatosis
BMGC_DS21359,BMG_DS080001,GM1 gangliosidosis type 1
BMGC_DS21360,BMG_DS080002,GM1 gangliosidosis type 2
BMGC_DS21361,BMG_DS080003,GM1 gangliosidosis type 3
BMGC_DS21362,BMG_DS080004,GAPO syndrome
BMGC_DS21363,BMG_DS080005,Gaucher's disease type IIIC
BMGC_DS21364,BMG_DS080006,Ghosal hematodiaphyseal syndrome
BMGC_DS21365,BMG_DS080007,triple-A syndrome
BMGC_DS21366,BMG_DS080008,glutaric acidemia type 3
BMGC_DS21367,BMG_DS080009,congenital nonspherocytic hemolytic anemia 6
BMGC_DS21368,BMG_DS080010,glycogen storage disease Ia
BMGC_DS21369,BMG_DS080011,glycogen storage disease Ib
BMGC_DS21370,BMG_DS080012,ovarian dysgenesis 1
BMGC_DS21371,BMG_DS080013,Perrault syndrome
BMGC_DS21372,BMG_DS080014,"46,XY sex reversal 7"
BMGC_DS21373,BMG_DS080015,autosomal recessive chronic granulomatous disease 1
BMGC_DS21374,BMG_DS080016,autosomal recessive chronic granulomatous disease 2
BMGC_DS21375,BMG_DS080017,BH4-deficient hyperphenylalaninemia B
BMGC_DS21376,BMG_DS080018,nonphotosensitive trichothiodystrophy 4
BMGC_DS21377,BMG_DS080019,holoprosencephaly 1
BMGC_DS21378,BMG_DS080020,homocystinuria-megaloblastic anemia cblE type
BMGC_DS21379,BMG_DS080021,"multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly"
BMGC_DS21380,BMG_DS080022,congenital muscular dystrophy-dystroglycanopathy type A1
BMGC_DS21381,BMG_DS080023,N-acetylglutamate synthase deficiency
BMGC_DS21382,BMG_DS080024,Leydig cell hypoplasia type I
BMGC_DS21383,BMG_DS080025,ornithine translocase deficiency
BMGC_DS21384,BMG_DS080026,Paget's disease of bone 5
BMGC_DS21385,BMG_DS080027,SOST-related sclerosing bone dysplasia
BMGC_DS21386,BMG_DS080028,hyperprolinemia type 1
BMGC_DS21387,BMG_DS080029,autoimmune polyendocrine syndrome type 1
BMGC_DS21388,BMG_DS080030,leucine-sensitive hypoglycemia of infancy
BMGC_DS21389,BMG_DS080031,infantile hypophosphatasia
BMGC_DS21390,BMG_DS080032,childhood hypophosphatasia
BMGC_DS21391,BMG_DS080033,autosomal recessive hypophosphatemic rickets
BMGC_DS21392,BMG_DS080034,Bamforth-Lazarus syndrome
BMGC_DS21393,BMG_DS080035,neuronal intestinal dysplasia type A
BMGC_DS21394,BMG_DS080036,benign recurrent intrahepatic cholestasis 1
BMGC_DS21395,BMG_DS080037,familial lipase maturation factor 1 deficiency
BMGC_DS21396,BMG_DS080038,3MC syndrome 3
BMGC_DS21397,BMG_DS080039,mandibuloacral dysplasia type A lipodystrophy
BMGC_DS21398,BMG_DS080040,Treacher Collins syndrome 3
BMGC_DS21399,BMG_DS080041,Marinesco-Sjogren syndrome
BMGC_DS21400,BMG_DS080042,autosomal recessive intellectual developmental disorder 1
BMGC_DS21401,BMG_DS080043,3-hydroxyisobutryl-CoA hydrolase deficiency
BMGC_DS21402,BMG_DS080044,homocystinuria-megaloblastic anemia cblG type
BMGC_DS21403,BMG_DS080045,primary autosomal recessive microcephaly 1
BMGC_DS21404,BMG_DS080046,microcephaly-micromelia syndrome
BMGC_DS21405,BMG_DS080047,orofaciodigital syndrome II
BMGC_DS21406,BMG_DS080048,mucolipidosis II alpha/beta
BMGC_DS21407,BMG_DS080049,mucolipidosis III alpha/beta
BMGC_DS21408,BMG_DS080050,mucolipidosis type IV
BMGC_DS21409,BMG_DS080051,Fukuyama congenital muscular dystrophy
BMGC_DS21410,BMG_DS080052,Miyoshi muscular dystrophy 1
BMGC_DS21411,BMG_DS080053,congenital myasthenic syndrome 6
BMGC_DS21412,BMG_DS080054,congenital myasthenic syndrome 10
BMGC_DS21413,BMG_DS080055,progressive myoclonus epilepsy 1A
BMGC_DS21414,BMG_DS080056,autosomal recessive hyaline body myopathy
BMGC_DS21415,BMG_DS080057,Becker disease
BMGC_DS21416,BMG_DS080058,congenital myopathy 4A
BMGC_DS21417,BMG_DS080059,congenital myopathy 1B
BMGC_DS21418,BMG_DS080060,nephronophthisis 1
BMGC_DS21419,BMG_DS080061,familial hyperinsulinemic hypoglycemia 1
BMGC_DS21420,BMG_DS080062,atypical hereditary sensory neuropathy
BMGC_DS21421,BMG_DS080063,mosaic variegated aneuploidy syndrome 1
BMGC_DS21422,BMG_DS080064,"ocular motor apraxia, Cogan type"
BMGC_DS21423,BMG_DS080065,3MC syndrome 1
BMGC_DS21424,BMG_DS080066,bladder exstrophy-epispadias-cloacal exstrophy complex | cloacal exstrophy
BMGC_DS21425,BMG_DS080067,Oguchi disease-1
BMGC_DS21426,BMG_DS080068,spermatogenic failure 1
BMGC_DS21427,BMG_DS080069,3-methylglutaconic aciduria type 3
BMGC_DS21428,BMG_DS080070,autosomal recessive osteopetrosis 1
BMGC_DS21429,BMG_DS080071,autosomal recessive osteopetrosis 2
BMGC_DS21430,BMG_DS080072,autosomal recessive osteopetrosis 5
BMGC_DS21431,BMG_DS080073,Parkinson's disease 15
BMGC_DS21432,BMG_DS080074,hyperimmunoglobulinemia D periodic fever syndrome
BMGC_DS21433,BMG_DS080075,congenital intrinsic factor deficiency
BMGC_DS21434,BMG_DS080076,Peters plus syndrome
BMGC_DS21435,BMG_DS080077,BH4-deficient hyperphenylalaninemia C
BMGC_DS21436,BMG_DS080078,combined pituitary hormone deficiency 2
BMGC_DS21437,BMG_DS080079,polycystic kidney disease 4
BMGC_DS21438,BMG_DS080080,BH4-deficient hyperphenylalaninemia D
BMGC_DS21439,BMG_DS080081,Wiedemann-Rautenstrauch syndrome
BMGC_DS21440,BMG_DS080082,vitamin D-dependent rickets type 1A
BMGC_DS21441,BMG_DS080083,3MC syndrome 2
BMGC_DS21442,BMG_DS080084,congenital nonspherocytic hemolytic anemia 8
BMGC_DS21443,BMG_DS080085,glutatione synthetase deficiency with 5-oxoprolinuria
BMGC_DS21444,BMG_DS080086,inflammatory bowel disease 1
BMGC_DS21445,BMG_DS080087,familial hemophagocytic lymphohistiocytosis 1
BMGC_DS21446,BMG_DS080088,Revesz syndrome
BMGC_DS21447,BMG_DS080089,autoimmune polyendocrine syndrome type 2
BMGC_DS21448,BMG_DS080090,spermatogenic failure 4
BMGC_DS21449,BMG_DS080091,hereditary spherocytosis type 3
BMGC_DS21450,BMG_DS080092,autosomal recessive spondyloepiphyseal dysplasia tarda
BMGC_DS21451,BMG_DS080093,spondyloperipheral dysplasia
BMGC_DS21452,BMG_DS080094,Sugarman brachydactyly
BMGC_DS21453,BMG_DS080095,cold-induced sweating syndrome 1
BMGC_DS21454,BMG_DS080096,transcobalamin II deficiency
BMGC_DS21455,BMG_DS080097,Chanarin-Dorfman syndrome
BMGC_DS21456,BMG_DS080098,mismatch repair cancer syndrome
BMGC_DS21457,BMG_DS080099,tyrosinemia type II
BMGC_DS21458,BMG_DS080100,tyrosinemia type I
BMGC_DS21459,BMG_DS080101,tyrosinemia type III
BMGC_DS21460,BMG_DS080102,Schinzel type phocomelia
BMGC_DS21461,BMG_DS080103,Mayer-Rokitansky-Kuster-Hauser syndrome type 1
BMGC_DS21462,BMG_DS080104,autosomal recessive congenital bilateral absence of vas deferens
BMGC_DS21463,BMG_DS080105,spondylocostal dysostosis 1
BMGC_DS21464,BMG_DS080106,methylmalonic aciduria and homocystinuria type cblF
BMGC_DS21465,BMG_DS080107,methylmalonic aciduria and homocystinuria type cblD
BMGC_DS21466,BMG_DS080108,vitamin D-dependent rickets type 2A
BMGC_DS21467,BMG_DS080109,autosomal recessive Whistling face syndrome
BMGC_DS21468,BMG_DS080110,Opitz GBBB syndrome
BMGC_DS21469,BMG_DS080111,corpus callosum agenesis-abnormal genitalia syndrome
BMGC_DS21470,BMG_DS080112,X-linked deafness 3
BMGC_DS21471,BMG_DS080113,non-syndromic X-linked intellectual disability 23
BMGC_DS21472,BMG_DS080114,non-syndromic X-linked intellectual disability 20
BMGC_DS21473,BMG_DS080115,non-syndromic X-linked intellectual disability 14
BMGC_DS21474,BMG_DS080116,X-linked deafness 4
BMGC_DS21475,BMG_DS080117,fetal akinesia deformation sequence syndrome X-linked
BMGC_DS21476,BMG_DS080118,X-linked adrenal hypoplasia congenita
BMGC_DS21477,BMG_DS080119,Simpson-Golabi-Behmel syndrome type 2
BMGC_DS21478,BMG_DS080120,X-linked lissencephaly 2
BMGC_DS21479,BMG_DS080121,non-syndromic X-linked intellectual disability 72
BMGC_DS21480,BMG_DS080122,ectodermal dysplasia and immunodeficiency 1
BMGC_DS21481,BMG_DS080123,HRPT-related hyperuricemia
BMGC_DS21482,BMG_DS080124,non-syndromic X-linked intellectual disability 53
BMGC_DS21483,BMG_DS080125,cerebral creatine deficiency syndrome 1
BMGC_DS21484,BMG_DS080126,non-syndromic X-linked intellectual disability 73
BMGC_DS21485,BMG_DS080127,non-syndromic X-linked intellectual disability 42
BMGC_DS21486,BMG_DS080128,non-syndromic X-linked intellectual disability 63
BMGC_DS21487,BMG_DS080129,non-syndromic X-linked intellectual disability 2
BMGC_DS21488,BMG_DS080130,non-syndromic X-linked intellectual disability 81
BMGC_DS21489,BMG_DS080131,Stocco Dos Santos type X-linked intellectual disability
BMGC_DS21490,BMG_DS080132,non-syndromic X-linked intellectual disability 46
BMGC_DS21491,BMG_DS080133,non-syndromic X-linked intellectual disability 77
BMGC_DS21492,BMG_DS080134,X-linked retinitis pigmentosa and sinorespiratory infections
BMGC_DS21493,BMG_DS080135,X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
BMGC_DS21494,BMG_DS080136,non-syndromic X-linked intellectual disability 45
BMGC_DS21495,BMG_DS080137,non-syndromic X-linked intellectual disability 84
BMGC_DS21496,BMG_DS080138,primary ovarian insufficiency 4
BMGC_DS21497,BMG_DS080139,primary ovarian insufficiency 2A
BMGC_DS21498,BMG_DS080140,non-syndromic X-linked intellectual disability 82
BMGC_DS21499,BMG_DS080141,X-linked recessive hypophosphatemic rickets
BMGC_DS21500,BMG_DS080142,non-syndromic X-linked intellectual disability 91
BMGC_DS21501,BMG_DS080143,X-linked congenital myopathy with fiber-type disproportion
BMGC_DS21502,BMG_DS080144,SHOX-related short stature
BMGC_DS21503,BMG_DS080145,congenital nystagmus 5
BMGC_DS21504,BMG_DS080146,Cornelia de Lange syndrome 2
BMGC_DS21505,BMG_DS080147,primary ovarian insufficiency 2B
BMGC_DS21506,BMG_DS080148,developmental and epileptic encephalopathy 8
BMGC_DS21507,BMG_DS080149,X-linked deafness 5
BMGC_DS21508,BMG_DS080150,Tn polyagglutination syndrome
BMGC_DS21509,BMG_DS080151,developmental and epileptic encephalopathy 2
BMGC_DS21510,BMG_DS080152,X-linked Emery-Dreifuss muscular dystrophy 6
BMGC_DS21511,BMG_DS080153,non-syndromic X-linked intellectual disability
BMGC_DS21512,BMG_DS080154,sideroblastic anemia 1
BMGC_DS21513,BMG_DS080155,Alzheimer's disease 16
BMGC_DS21514,BMG_DS080156,non-syndromic X-linked intellectual disability 97
BMGC_DS21515,BMG_DS080157,non-syndromic X-linked intellectual disability 89
BMGC_DS21516,BMG_DS080158,non-syndromic X-linked intellectual disability 90
BMGC_DS21517,BMG_DS080159,non-syndromic X-linked intellectual disability 92
BMGC_DS21518,BMG_DS080160,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia"
BMGC_DS21519,BMG_DS080161,Ogden syndrome
BMGC_DS21520,BMG_DS080162,syndromic X-linked intellectual disability 17
BMGC_DS21521,BMG_DS080163,syndromic X-linked intellectual disability Chudley-Schwartz type
BMGC_DS21522,BMG_DS080164,intracranial berry aneurysm 5
BMGC_DS21523,BMG_DS080165,developmental and epileptic encephalopathy 36
BMGC_DS21524,BMG_DS080166,congenital disorder of glycosylation type IIm
BMGC_DS21525,BMG_DS080167,non-syndromic X-linked intellectual disability 99
BMGC_DS21526,BMG_DS080168,congenital disorder of glycosylation Iy
BMGC_DS21527,BMG_DS080169,growth hormone secreting pituitary adenoma 2
BMGC_DS21528,BMG_DS080170,syndromic X-linked intellectual disability 34
BMGC_DS21529,BMG_DS080171,immunodeficiency 50
BMGC_DS21530,BMG_DS080172,non-syndromic X-linked intellectual disability 106
BMGC_DS21531,BMG_DS080173,syndromic X-linked mental retardation Hough type
BMGC_DS21532,BMG_DS080174,non-syndromic X-linked intellectual disability 107
BMGC_DS21533,BMG_DS080175,osteogenesis imperfecta type 19
BMGC_DS21534,BMG_DS080176,Van Esch-O'Driscoll syndrome
BMGC_DS21535,BMG_DS080177,X-linked warfarin sensitivity
BMGC_DS21536,BMG_DS080178,VEXAS syndrome
BMGC_DS21537,BMG_DS080179,syndromic X-linked intellectual disability Pilorge type
BMGC_DS21538,BMG_DS080180,congenital nonspherocytic hemolytic anemia 9
BMGC_DS21539,BMG_DS080181,non-syndromic X-linked intellectual developmental disorder 111
BMGC_DS21540,BMG_DS080182,neural tube defect
BMGC_DS21541,BMG_DS080183,X-linked chondrodysplasia punctata 2
BMGC_DS21542,BMG_DS080184,X-linked cleft palate with or without ankyloglossia
BMGC_DS21543,BMG_DS080185,X-linked deafness 2
BMGC_DS21544,BMG_DS080186,X-linked deafness 1
BMGC_DS21545,BMG_DS080187,X-linked nephrogenic diabetes insipidus
BMGC_DS21546,BMG_DS080188,X-linked exudative vitreoretinopathy 2
BMGC_DS21547,BMG_DS080189,frontometaphyseal dysplasia 1
BMGC_DS21548,BMG_DS080190,X-linked spermatogenic failure 1
BMGC_DS21549,BMG_DS080191,X-linked chronic granulomatous disease
BMGC_DS21550,BMG_DS080192,visceral heterotaxy
BMGC_DS21551,BMG_DS080193,X-linked hypoparathyroidism
BMGC_DS21552,BMG_DS080194,CD40 ligand deficiency
BMGC_DS21553,BMG_DS080195,X-linked keratosis follicularis spinulosa decalvans
BMGC_DS21554,BMG_DS080196,low molecular weight proteinuria with hypercalciuric nephrocalcinosis
BMGC_DS21555,BMG_DS080197,syndromic X-linked intellectual disorder Lujan-Fryns-type
BMGC_DS21556,BMG_DS080198,X-linked intellectual developmental disorder 109
BMGC_DS21557,BMG_DS080199,non-syndromic X-linked intellectual disability 9
BMGC_DS21558,BMG_DS080200,X-linked mental retardation Gustavson type
BMGC_DS21559,BMG_DS080201,Prieto syndrome
BMGC_DS21560,BMG_DS080202,X-linked Emery-Dreifuss muscular dystrophy 1
BMGC_DS21561,BMG_DS080203,X-linked myopathy with excessive autophagy
BMGC_DS21562,BMG_DS080204,X-linked nephrolithiasis type I
BMGC_DS21563,BMG_DS080205,hereditary sensory neuropathy X-linked
BMGC_DS21564,BMG_DS080206,congenital stationary night blindness 1A
BMGC_DS21565,BMG_DS080207,congenital nystagmus 1
BMGC_DS21566,BMG_DS080208,optic atrophy 2
BMGC_DS21567,BMG_DS080209,primary ovarian insufficiency 1
BMGC_DS21568,BMG_DS080210,Waisman syndrome
BMGC_DS21569,BMG_DS080211,X-linked panhypopituitarism
BMGC_DS21570,BMG_DS080212,partial androgen insensitivity syndrome
BMGC_DS21571,BMG_DS080213,X-linked spondyloepiphyseal dysplasia tarda
BMGC_DS21572,BMG_DS080214,Y-linked spermatogenic failure 1
BMGC_DS21573,BMG_DS080215,"46,XY sex reversal 1"
BMGC_DS21574,BMG_DS080216,"46,XX sex reversal 1"
BMGC_DS21575,BMG_DS080217,infantile histiocytoid cardiomyopathy
BMGC_DS21576,BMG_DS080218,Pearson syndrome
BMGC_DS21577,BMG_DS080219,pancreatic hypoplasia-diabetes-congenital heart disease syndrome
BMGC_DS21578,BMG_DS080220,familial chronic myelocytic leukemia-like syndrome
BMGC_DS21579,BMG_DS080221,vitamin D-dependent rickets type 1B
BMGC_DS21580,BMG_DS080222,nanophthalmos
BMGC_DS21581,BMG_DS080223,autosomal dominant distal hereditary motor neuronopathy 8
BMGC_DS21582,BMG_DS080224,multiple epiphyseal dysplasia 2
BMGC_DS21583,BMG_DS080225,spinocerebellar ataxia type 5
BMGC_DS21584,BMG_DS080226,oblique facial clefting 1
BMGC_DS21585,BMG_DS080227,CSF1R-related brain malformation and osteopetrosis
BMGC_DS21586,BMG_DS080228,Charcot-Marie-Tooth disease type 5
BMGC_DS21587,BMG_DS080229,maturity-onset diabetes of the young type 3
BMGC_DS21588,BMG_DS080230,schizophrenia 3
BMGC_DS21589,BMG_DS080231,familial temporal lobe epilepsy 1
BMGC_DS21590,BMG_DS080232,autosomal dominant nocturnal frontal lobe epilepsy 1
BMGC_DS21591,BMG_DS080233,vitamin D-dependent rickets type 2B
BMGC_DS21592,BMG_DS080234,janus kinase-3 deficiency
BMGC_DS21593,BMG_DS080235,hypertrophic cardiomyopathy 6
BMGC_DS21594,BMG_DS080236,achondrogenesis type IB
BMGC_DS21595,BMG_DS080237,Mayer-Rokitansky-Kuster-Hauser syndrome type 2
BMGC_DS21596,BMG_DS080238,Charcot-Marie-Tooth disease type 6
BMGC_DS21597,BMG_DS080239,DICER1 syndrome
BMGC_DS21598,BMG_DS080240,neuronal intestinal dysplasia type B
BMGC_DS21599,BMG_DS080241,diffuse cystic renal dysplasia
BMGC_DS21600,BMG_DS080242,Nicolaides-Baraitser syndrome
BMGC_DS21601,BMG_DS080243,psoriasis 3
BMGC_DS21602,BMG_DS080244,mucopolysaccharidosis IX
BMGC_DS21603,BMG_DS080245,Athabaskan brainstem dysgenesis syndrome
BMGC_DS21604,BMG_DS080246,peroxisome biogenesis disorder 1B
BMGC_DS21605,BMG_DS080247,photosensitive trichothiodystrophy 1
BMGC_DS21606,BMG_DS080248,benign familial infantile seizures 1
BMGC_DS21607,BMG_DS080249,Ehlers-Danlos syndrome musculocontractural type 1
BMGC_DS21608,BMG_DS080250,cone-rod dystrophy 6
BMGC_DS21609,BMG_DS080251,familial hyperinsulinemic hypoglycemia 2
BMGC_DS21610,BMG_DS080252,ectodermal dysplasia 4
BMGC_DS21611,BMG_DS080253,speech-language disorder-1
BMGC_DS21612,BMG_DS080254,amyotrophic lateral sclerosis type 5
BMGC_DS21613,BMG_DS080255,Pierpont syndrome
BMGC_DS21614,BMG_DS080256,Parkinson's disease 3
BMGC_DS21615,BMG_DS080257,familial hyperinsulinemic hypoglycemia 3
BMGC_DS21616,BMG_DS080258,congenital disorder of glycosylation Ib
BMGC_DS21617,BMG_DS080259,"spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability"
BMGC_DS21618,BMG_DS080260,histiocytosis-lymphadenopathy plus syndrome
BMGC_DS21619,BMG_DS080261,congenital myasthenic syndrome 5
BMGC_DS21620,BMG_DS080262,age related macular degeneration 1
BMGC_DS21621,BMG_DS080263,congenital disorder of glycosylation Ic
BMGC_DS21622,BMG_DS080264,schizophrenia 5
BMGC_DS21623,BMG_DS080265,schizophrenia 7
BMGC_DS21624,BMG_DS080266,autosomal dominant nocturnal frontal lobe epilepsy 2
BMGC_DS21625,BMG_DS080267,schizophrenia 8
BMGC_DS21626,BMG_DS080268,familial gestational hyperthyroidism
BMGC_DS21627,BMG_DS080269,adult-onset type II citrullinemia
BMGC_DS21628,BMG_DS080270,neuronal intranuclear inclusion disease
BMGC_DS21629,BMG_DS080271,spinocerebellar ataxia type 10
BMGC_DS21630,BMG_DS080272,congenital chylothorax
BMGC_DS21631,BMG_DS080273,spondyloepimetaphyseal dysplasia with joint laxity type 2
BMGC_DS21632,BMG_DS080274,familial hemophagocytic lymphohistiocytosis 4
BMGC_DS21633,BMG_DS080275,myofibrillar myopathy 9
BMGC_DS21634,BMG_DS080276,autosomal dominant beta thalassemia
BMGC_DS21635,BMG_DS080277,sickle cell disease
BMGC_DS21636,BMG_DS080278,psoriasis 4
BMGC_DS21637,BMG_DS080279,keratosis pilaris atrophicans
BMGC_DS21638,BMG_DS080280,left ventricular noncompaction
BMGC_DS21639,BMG_DS080281,aceruloplasminemia
BMGC_DS21640,BMG_DS080282,psoriasis 5
BMGC_DS21641,BMG_DS080283,spinocerebellar ataxia type 12
BMGC_DS21642,BMG_DS080284,familial febrile seizures 4
BMGC_DS21643,BMG_DS080285,ataxia-telangiectasia-like disorder-1
BMGC_DS21644,BMG_DS080286,PAPA syndrome
BMGC_DS21645,BMG_DS080287,infundibulocystic basal cell carcinoma
BMGC_DS21646,BMG_DS080288,MHC class I deficiency
BMGC_DS21647,BMG_DS080289,craniosynostosis 2
BMGC_DS21648,BMG_DS080290,primary autosomal recessive microcephaly 3
BMGC_DS21649,BMG_DS080291,Stickler syndrome 2
BMGC_DS21650,BMG_DS080292,schizophrenia 9
BMGC_DS21651,BMG_DS080293,familial hypobetalipoproteinemia 2
BMGC_DS21652,BMG_DS080294,spinocerebellar ataxia type 13
BMGC_DS21653,BMG_DS080295,spinocerebellar ataxia type 14
BMGC_DS21654,BMG_DS080296,dilated cardiomyopathy 1J
BMGC_DS21655,BMG_DS080297,psoriasis 6
BMGC_DS21656,BMG_DS080298,autosomal dominant nocturnal frontal lobe epilepsy 3
BMGC_DS21657,BMG_DS080299,ataxic cerebral palsy
BMGC_DS21658,BMG_DS080300,schizophrenia 10
BMGC_DS21659,BMG_DS080301,psoriasis 7
BMGC_DS21660,BMG_DS080302,congenital myopathy 6
BMGC_DS21661,BMG_DS080303,multiple mitochondrial dysfunctions syndrome 1
BMGC_DS21662,BMG_DS080304,platelet-type bleeding disorder 12
BMGC_DS21663,BMG_DS080305,atopic dermatitis 2
BMGC_DS21664,BMG_DS080306,atopic dermatitis 3
BMGC_DS21665,BMG_DS080307,atopic dermatitis 5
BMGC_DS21666,BMG_DS080308,atopic dermatitis 6
BMGC_DS21667,BMG_DS080309,dimethylglycine dehydrogenase deficiency
BMGC_DS21668,BMG_DS080310,glycine encephalopathy 1
BMGC_DS21669,BMG_DS080311,Parkinson's disease 6
BMGC_DS21670,BMG_DS080312,HMG-CoA synthase 2 deficiency
BMGC_DS21671,BMG_DS080313,spinocerebellar ataxia with axonal neuropathy 2
BMGC_DS21672,BMG_DS080314,Phelan-McDermid syndrome
BMGC_DS21673,BMG_DS080315,maturity-onset diabetes of the young type 6
BMGC_DS21674,BMG_DS080316,Ehlers-Danlos syndrome classic-like 1
BMGC_DS21675,BMG_DS080317,episodic ataxia type 3
BMGC_DS21676,BMG_DS080318,oculocutaneous albinism type IV
BMGC_DS21677,BMG_DS080319,DNA ligase IV deficiency
BMGC_DS21678,BMG_DS080320,amyotrophic lateral sclerosis type 3
BMGC_DS21679,BMG_DS080321,Waardenburg syndrome type 2C
BMGC_DS21680,BMG_DS080322,specific language impairment
BMGC_DS21681,BMG_DS080323,familial hyperinsulinemic hypoglycemia 6
BMGC_DS21682,BMG_DS080325,brachydactyly type A1B
BMGC_DS21683,BMG_DS080326,congenital disorder of glycosylation Ig
BMGC_DS21684,BMG_DS080327,Dravet syndrome
BMGC_DS21685,BMG_DS080328,spinocerebellar ataxia type 19/22
BMGC_DS21686,BMG_DS080329,autosomal recessive intellectual developmental disorder 2
BMGC_DS21687,BMG_DS080330,lissencephaly 1
BMGC_DS21688,BMG_DS080331,Newfoundland cone-rod dystrophy
BMGC_DS21689,BMG_DS080332,familial atrial fibrillation
BMGC_DS21690,BMG_DS080333,pontocerebellar hypoplasia type 1A
BMGC_DS21691,BMG_DS080334,idiopathic generalized epilepsy 11
BMGC_DS21692,BMG_DS080335,juvenile absence epilepsy 1
BMGC_DS21693,BMG_DS080336,autosomal dominant distal hereditary motor neuronopathy 14
BMGC_DS21694,BMG_DS080337,idiopathic generalized epilepsy 9
BMGC_DS21695,BMG_DS080338,Alzheimer's disease 3
BMGC_DS21696,BMG_DS080339,focal segmental glomerulosclerosis 3
BMGC_DS21697,BMG_DS080340,psoriasis 9
BMGC_DS21698,BMG_DS080341,familial adult myoclonic epilepsy 2
BMGC_DS21699,BMG_DS080342,amyotrophic lateral sclerosis type 6
BMGC_DS21700,BMG_DS080343,amyotrophic lateral sclerosis type 7
BMGC_DS21701,BMG_DS080344,congenital disorder of glycosylation Ij
BMGC_DS21702,BMG_DS080345,congenital disorder of glycosylation Ih
BMGC_DS21703,BMG_DS080346,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
BMGC_DS21704,BMG_DS080347,Kagami-Ogata syndrome
BMGC_DS21705,BMG_DS080348,congenital nystagmus 3
BMGC_DS21706,BMG_DS080349,autosomal dominant hyaline body myopathy
BMGC_DS21707,BMG_DS080350,primary autosomal recessive microcephaly 6
BMGC_DS21708,BMG_DS080351,platelet-type bleeding disorder 10
BMGC_DS21709,BMG_DS080352,bradyopsia 1
BMGC_DS21710,BMG_DS080353,autosomal recessive intellectual developmental disorder 3
BMGC_DS21711,BMG_DS080354,congenital disorder of glycosylation Ik
BMGC_DS21712,BMG_DS080355,intracranial berry aneurysm 2
BMGC_DS21713,BMG_DS080356,amyotrophic lateral sclerosis type 8
BMGC_DS21714,BMG_DS080357,autosomal dominant distal hereditary motor neuronopathy 3
BMGC_DS21715,BMG_DS080358,spondylocostal dysostosis 2
BMGC_DS21716,BMG_DS080359,primary autosomal recessive microcephaly 5
BMGC_DS21717,BMG_DS080360,idiopathic generalized epilepsy 3
BMGC_DS21718,BMG_DS080361,congenital disorder of glycosylation Il
BMGC_DS21719,BMG_DS080362,myofibrillar myopathy 2
BMGC_DS21720,BMG_DS080363,orofacial cleft 6
BMGC_DS21721,BMG_DS080364,Alzheimer's disease 9
BMGC_DS21722,BMG_DS080365,congenital myasthenic syndrome 4C
BMGC_DS21723,BMG_DS080366,patterned macular dystrophy 2
BMGC_DS21724,BMG_DS080367,autosomal dominant sensory ataxia 1
BMGC_DS21725,BMG_DS080368,primary ovarian insufficiency 3
BMGC_DS21726,BMG_DS080369,cataract 28
BMGC_DS21727,BMG_DS080370,salt and pepper syndrome
BMGC_DS21728,BMG_DS080371,nonautoimmune hyperthyroidism
BMGC_DS21729,BMG_DS080372,Loeys-Dietz syndrome 1
BMGC_DS21730,BMG_DS080373,autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
BMGC_DS21731,BMG_DS080374,Schindler disease type 1
BMGC_DS21732,BMG_DS080375,Kanzaki disease
BMGC_DS21733,BMG_DS080376,familial febrile seizures 6
BMGC_DS21734,BMG_DS080377,familial febrile seizures 5
BMGC_DS21735,BMG_DS080378,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
BMGC_DS21736,BMG_DS080379,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
BMGC_DS21737,BMG_DS080380,developmental and epileptic encephalopathy 3
BMGC_DS21738,BMG_DS080381,hereditary nonpolyposis colorectal cancer type 2
BMGC_DS21739,BMG_DS080382,MEDNIK syndrome
BMGC_DS21740,BMG_DS080383,rhabdoid tumor predisposition syndrome 1
BMGC_DS21741,BMG_DS080384,congenital fibrosis of the extraocular muscles 3C
BMGC_DS21742,BMG_DS080385,myofibrillar myopathy 5
BMGC_DS21743,BMG_DS080386,restrictive cardiomyopathy 2
BMGC_DS21744,BMG_DS080387,short QT syndrome
BMGC_DS21745,BMG_DS080388,autosomal dominant familial visceral neuropathy
BMGC_DS21746,BMG_DS080389,familial hemiplegic migraine 3
BMGC_DS21747,BMG_DS080391,generalized epilepsy with febrile seizures plus 4
BMGC_DS21748,BMG_DS080392,spondylocostal dysostosis 3
BMGC_DS21749,BMG_DS080393,familial erythrocytosis 3
BMGC_DS21750,BMG_DS080394,familial hyperinsulinemic hypoglycemia 5
BMGC_DS21751,BMG_DS080395,familial hyperinsulinemic hypoglycemia 4
BMGC_DS21752,BMG_DS080396,congenital glutamine deficiency
BMGC_DS21753,BMG_DS080397,hereditary mixed polyposis syndrome 2
BMGC_DS21754,BMG_DS080398,distal myopathy 3
BMGC_DS21755,BMG_DS080399,giant axonal neuropathy 2
BMGC_DS21756,BMG_DS080400,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
BMGC_DS21757,BMG_DS080401,age related macular degeneration 7
BMGC_DS21758,BMG_DS080402,Loeys-Dietz syndrome 2
BMGC_DS21759,BMG_DS080403,3-methylglutaconic aciduria type 5
BMGC_DS21760,BMG_DS080404,neonatal diabetes mellitus with congenital hypothyroidism
BMGC_DS21761,BMG_DS080405,intracranial berry aneurysm 4
BMGC_DS21762,BMG_DS080406,hereditary spastic paraplegia 33
BMGC_DS21763,BMG_DS080407,anterior segment dysgenesis 2
BMGC_DS21764,BMG_DS080408,cold-induced sweating syndrome 2
BMGC_DS21765,BMG_DS080409,Koolen de Vries syndrome
BMGC_DS21766,BMG_DS080410,congenital stationary night blindness autosomal dominant 3
BMGC_DS21767,BMG_DS080411,congenital stationary night blindness autosomal dominant 1
BMGC_DS21768,BMG_DS080412,normophosphatemic familial tumoral calcinosis
BMGC_DS21769,BMG_DS080413,poor metabolism of thiopurines 1
BMGC_DS21770,BMG_DS080414,maturity-onset diabetes of the young type 7
BMGC_DS21771,BMG_DS080415,"mandibulofacial dysostosis, Guion-Almeida type"
BMGC_DS21772,BMG_DS080416,age related macular degeneration 4
BMGC_DS21773,BMG_DS080417,psoriasis 8
BMGC_DS21774,BMG_DS080418,severe congenital neutropenia 3
BMGC_DS21775,BMG_DS080419,Cornelia de Lange syndrome 3
BMGC_DS21776,BMG_DS080420,congenital disorder of glycosylation Im
BMGC_DS21777,BMG_DS080421,CAKUT1
BMGC_DS21778,BMG_DS080422,branchiootorenal syndrome 2
BMGC_DS21779,BMG_DS080423,PSAT deficiency
BMGC_DS21780,BMG_DS080424,autosomal recessive intellectual developmental disorder 12
BMGC_DS21781,BMG_DS080425,autosomal recessive intellectual developmental disorder 5
BMGC_DS21782,BMG_DS080426,autosomal recessive intellectual developmental disorder 6
BMGC_DS21783,BMG_DS080427,autosomal recessive intellectual developmental disorder 7
BMGC_DS21784,BMG_DS080428,autosomal recessive intellectual developmental disorder 9/26
BMGC_DS21785,BMG_DS080429,autosomal recessive intellectual developmental disorder 10/20
BMGC_DS21786,BMG_DS080430,autosomal recessive intellectual developmental disorder 11
BMGC_DS21787,BMG_DS080431,autosomal recessive intellectual developmental disorder 4
BMGC_DS21788,BMG_DS080432,idiopathic generalized epilepsy 13
BMGC_DS21789,BMG_DS080433,syndromic microphthalmia 10
BMGC_DS21790,BMG_DS080434,spastic ataxia 2
BMGC_DS21791,BMG_DS080435,lethal congenital contracture syndrome 3
BMGC_DS21792,BMG_DS080436,age related macular degeneration 9
BMGC_DS21793,BMG_DS080437,spastic ataxia 3
BMGC_DS21794,BMG_DS080438,essential tremor 3
BMGC_DS21795,BMG_DS080439,age related macular degeneration 10
BMGC_DS21796,BMG_DS080440,autosomal recessive osteopetrosis 4
BMGC_DS21797,BMG_DS080441,autosomal recessive osteopetrosis 6
BMGC_DS21798,BMG_DS080442,familial febrile seizures 7
BMGC_DS21799,BMG_DS080443,primary ovarian insufficiency 5
BMGC_DS21800,BMG_DS080444,familial temporal lobe epilepsy 3
BMGC_DS21801,BMG_DS080445,familial temporal lobe epilepsy 4
BMGC_DS21802,BMG_DS080446,familial febrile seizures 9
BMGC_DS21803,BMG_DS080448,congenital myopathy 5
BMGC_DS21804,BMG_DS080449,familial erythrocytosis 4
BMGC_DS21805,BMG_DS080450,intracranial berry aneurysm 6
BMGC_DS21806,BMG_DS080451,amyotrophic lateral sclerosis type 9
BMGC_DS21807,BMG_DS080452,episodic ataxia type 7
BMGC_DS21808,BMG_DS080454,age related macular degeneration 11
BMGC_DS21809,BMG_DS080455,congenital disorder of glycosylation In
BMGC_DS21810,BMG_DS080456,otosclerosis 8
BMGC_DS21811,BMG_DS080457,hypertrophic cardiomyopathy 11
BMGC_DS21812,BMG_DS080458,ectodermal dysplasia and immunodeficiency 2
BMGC_DS21813,BMG_DS080459,intracranial berry aneurysm 7
BMGC_DS21814,BMG_DS080460,intracranial berry aneurysm 8
BMGC_DS21815,BMG_DS080461,developmental and epileptic encephalopathy 4
BMGC_DS21816,BMG_DS080462,maturity-onset diabetes of the young type 9
BMGC_DS21817,BMG_DS080463,Crouzon syndrome-acanthosis nigricans syndrome
BMGC_DS21818,BMG_DS080464,generalized epilepsy with febrile seizures plus 6
BMGC_DS21819,BMG_DS080465,primary ovarian insufficiency 6
BMGC_DS21820,BMG_DS080466,autosomal dominant intellectual developmental disorder 22
BMGC_DS21821,BMG_DS080467,Ehlers-Danlos syndrome spondylodysplastic type 3
BMGC_DS21822,BMG_DS080468,congenital disorder of glycosylation Iq
BMGC_DS21823,BMG_DS080469,psoriasis 10
BMGC_DS21824,BMG_DS080470,restrictive cardiomyopathy 3
BMGC_DS21825,BMG_DS080471,progressive myoclonus epilepsy 1B
BMGC_DS21826,BMG_DS080472,pseudohypoparathyroidism type 1C
BMGC_DS21827,BMG_DS080473,Compton-North congenital myopathy
BMGC_DS21828,BMG_DS080474,severe congenital neutropenia 4
BMGC_DS21829,BMG_DS080475,autosomal dominant intellectual developmental disorder 3
BMGC_DS21830,BMG_DS080476,autosomal dominant intellectual developmental disorder 4
BMGC_DS21831,BMG_DS080477,intracranial berry aneurysm 9
BMGC_DS21832,BMG_DS080478,intracranial berry aneurysm 10
BMGC_DS21833,BMG_DS080479,psoriasis 11
BMGC_DS21834,BMG_DS080480,autosomal dominant intellectual developmental disorder 5
BMGC_DS21835,BMG_DS080481,benign familial infantile seizures 4
BMGC_DS21836,BMG_DS080482,congenital nonspherocytic hemolytic anemia 3
BMGC_DS21837,BMG_DS080483,familial febrile seizures 10
BMGC_DS21838,BMG_DS080484,hereditary spherocytosis type 4
BMGC_DS21839,BMG_DS080485,episodic ataxia type 6
BMGC_DS21840,BMG_DS080486,PHARC syndrome
BMGC_DS21841,BMG_DS080487,hereditary spherocytosis type 5
BMGC_DS21842,BMG_DS080488,primary autosomal recessive microcephaly 7
BMGC_DS21843,BMG_DS080489,AGAT deficiency
BMGC_DS21844,BMG_DS080490,leukocyte adhesion deficiency 3
BMGC_DS21845,BMG_DS080491,autosomal dominant keratosis follicularis spinulosa decalvans
BMGC_DS21846,BMG_DS080492,idiopathic generalized epilepsy 8
BMGC_DS21847,BMG_DS080493,spastic quadriplegic cerebral palsy 2
BMGC_DS21848,BMG_DS080494,hereditary spastic paraplegia 50
BMGC_DS21849,BMG_DS080495,psoriasis 12
BMGC_DS21850,BMG_DS080496,RNASET2-deficient cystic leukoencephalopathy
BMGC_DS21851,BMG_DS080497,myofibrillar myopathy 6
BMGC_DS21852,BMG_DS080498,multiple synostoses syndrome 3
BMGC_DS21853,BMG_DS080499,"46,XY sex reversal 3"
BMGC_DS21854,BMG_DS080500,autosomal dominant Emery-Dreifuss muscular dystrophy 4
BMGC_DS21855,BMG_DS080501,primary biliary cholangitis 2
BMGC_DS21856,BMG_DS080502,primary biliary cholangitis 3
BMGC_DS21857,BMG_DS080503,combined or isolated pituitary hormone deficiency 1
BMGC_DS21858,BMG_DS080504,idiopathic generalized epilepsy 10
BMGC_DS21859,BMG_DS080505,atopic dermatitis 7
BMGC_DS21860,BMG_DS080506,cerebral folate receptor alpha deficiency
BMGC_DS21861,BMG_DS080507,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
BMGC_DS21862,BMG_DS080508,primary congenital glaucoma
BMGC_DS21863,BMG_DS080509,polycystic kidney disease 2
BMGC_DS21864,BMG_DS080510,familial hemophagocytic lymphohistiocytosis 5
BMGC_DS21865,BMG_DS080511,severe congenital neutropenia 2
BMGC_DS21866,BMG_DS080512,hereditary sensory and autonomic neuropathy type 2B
BMGC_DS21867,BMG_DS080513,congenital muscular dystrophy-dystroglycanopathy type A6
BMGC_DS21868,BMG_DS080514,GABA aminotransferase deficiency
BMGC_DS21869,BMG_DS080515,autosomal recessive intellectual developmental disorder 13
BMGC_DS21870,BMG_DS080516,ankylosing spondylitis 3
BMGC_DS21871,BMG_DS080517,hypertrophic cardiomyopathy 13
BMGC_DS21872,BMG_DS080518,hypertrophic cardiomyopathy 14
BMGC_DS21873,BMG_DS080519,Waardenburg syndrome type 4B
BMGC_DS21874,BMG_DS080520,Waardenburg syndrome type 4C
BMGC_DS21875,BMG_DS080521,hypermanganesemia with dystonia 1
BMGC_DS21876,BMG_DS080522,spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
BMGC_DS21877,BMG_DS080523,rhabdoid tumor predisposition syndrome 2
BMGC_DS21878,BMG_DS080524,maturity-onset diabetes of the young type 10
BMGC_DS21879,BMG_DS080525,spinocerebellar ataxia type 30
BMGC_DS21880,BMG_DS080526,maturity-onset diabetes of the young type 11
BMGC_DS21881,BMG_DS080527,amyotrophic lateral sclerosis type 12
BMGC_DS21882,BMG_DS080528,congenital disorder of glycosylation type IIj
BMGC_DS21883,BMG_DS080529,common variable immunodeficiency 3
BMGC_DS21884,BMG_DS080530,cytochrome P450 oxidoreductase deficiency
BMGC_DS21885,BMG_DS080531,congenital disorder of glycosylation type IIi
BMGC_DS21886,BMG_DS080532,fetal encasement syndrome
BMGC_DS21887,BMG_DS080533,hereditary sensory and autonomic neuropathy type 1C
BMGC_DS21888,BMG_DS080534,intellectual disability-severe speech delay-mild dysmorphism syndrome
BMGC_DS21889,BMG_DS080535,age related macular degeneration 6
BMGC_DS21890,BMG_DS080536,fatal infantile hypertonic myofibrillar myopathy
BMGC_DS21891,BMG_DS080537,familial partial lipodystrophy type 4
BMGC_DS21892,BMG_DS080538,schizophrenia 15
BMGC_DS21893,BMG_DS080539,autosomal dominant intellectual developmental disorder 6
BMGC_DS21894,BMG_DS080540,autosomal recessive dyskeratosis congenita 3
BMGC_DS21895,BMG_DS080541,autosomal dominant dyskeratosis congenita 3
BMGC_DS21896,BMG_DS080542,Nestor-Guillermo progeria syndrome
BMGC_DS21897,BMG_DS080543,progressive myoclonus epilepsy 6
BMGC_DS21898,BMG_DS080544,autosomal recessive intellectual developmental disorder 14
BMGC_DS21899,BMG_DS080545,PSPH deficiency
BMGC_DS21900,BMG_DS080546,psoriasis 13
BMGC_DS21901,BMG_DS080547,chondrodysplasia with joint dislocations gPAPP type
BMGC_DS21902,BMG_DS080548,multiple congenital anomalies-hypotonia-seizures syndrome 1
BMGC_DS21903,BMG_DS080549,Fanconi anemia complementation group G
BMGC_DS21904,BMG_DS080550,combined oxidative phosphorylation deficiency 8
BMGC_DS21905,BMG_DS080551,autosomal dominant intellectual developmental disorder 7
BMGC_DS21906,BMG_DS080552,autosomal dominant intellectual developmental disorder 2
BMGC_DS21907,BMG_DS080553,mosaic variegated aneuploidy syndrome 2
BMGC_DS21908,BMG_DS080554,hydrolethalus syndrome 2
BMGC_DS21909,BMG_DS080555,spinocerebellar ataxia type 36
BMGC_DS21910,BMG_DS080556,platelet-type bleeding disorder 14
BMGC_DS21911,BMG_DS080557,autosomal recessive intellectual developmental disorder 16
BMGC_DS21912,BMG_DS080558,autosomal recessive spinocerebellar ataxia 11
BMGC_DS21913,BMG_DS080559,autosomal recessive intellectual developmental disorder 18
BMGC_DS21914,BMG_DS080560,autosomal dominant intellectual developmental disorder 10
BMGC_DS21915,BMG_DS080561,"46,XY sex reversal 8"
BMGC_DS21916,BMG_DS080562,juvenile myoclonic epilepsy 9
BMGC_DS21917,BMG_DS080563,autosomal dominant Wolfram syndrome
BMGC_DS21918,BMG_DS080564,multiple mitochondrial dysfunctions syndrome 2
BMGC_DS21919,BMG_DS080565,autosomal recessive intellectual developmental disorder 31
BMGC_DS21920,BMG_DS080566,hereditary nonpolyposis colorectal cancer type 6
BMGC_DS21921,BMG_DS080567,autosomal recessive intellectual developmental disorder 29
BMGC_DS21922,BMG_DS080568,autosomal recessive intellectual developmental disorder 33
BMGC_DS21923,BMG_DS080569,autosomal recessive intellectual developmental disorder 30
BMGC_DS21924,BMG_DS080570,autosomal recessive intellectual developmental disorder 23
BMGC_DS21925,BMG_DS080571,autosomal recessive intellectual developmental disorder 24
BMGC_DS21926,BMG_DS080572,autosomal recessive intellectual developmental disorder 25
BMGC_DS21927,BMG_DS080573,autosomal recessive intellectual developmental disorder 28
BMGC_DS21928,BMG_DS080574,hereditary nonpolyposis colorectal cancer type 7
BMGC_DS21929,BMG_DS080575,early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
BMGC_DS21930,BMG_DS080576,congenital disorder of glycosylation Ir
BMGC_DS21931,BMG_DS080577,developmental and epileptic encephalopathy 13
BMGC_DS21932,BMG_DS080578,infantile cerebellar-retinal degeneration
BMGC_DS21933,BMG_DS080579,congenital disorder of glycosylation type IIl
BMGC_DS21934,BMG_DS080580,combined oxidative phosphorylation deficiency 9
BMGC_DS21935,BMG_DS080581,Cornelia de Lange syndrome 4
BMGC_DS21936,BMG_DS080582,combined oxidative phosphorylation deficiency 10
BMGC_DS21937,BMG_DS080583,Brown-Vialetto-Van Laere syndrome 2
BMGC_DS21938,BMG_DS080584,congenital disorder of glycosylation type IIk
BMGC_DS21939,BMG_DS080585,IMAGe syndrome
BMGC_DS21940,BMG_DS080586,"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"
BMGC_DS21941,BMG_DS080587,mitochondrial pyruvate carrier deficiency
BMGC_DS21942,BMG_DS080588,Sotos syndrome 2
BMGC_DS21943,BMG_DS080589,centronuclear myopathy 4
BMGC_DS21944,BMG_DS080590,idiopathic generalized epilepsy 12
BMGC_DS21945,BMG_DS080591,peroxisome biogenesis disorder 3A
BMGC_DS21946,BMG_DS080592,peroxisome biogenesis disorder 4A
BMGC_DS21947,BMG_DS080593,peroxisome biogenesis disorder 6A
BMGC_DS21948,BMG_DS080594,Peroxisome biogenesis disorder 6B
BMGC_DS21949,BMG_DS080595,Peroxisome biogenesis disorder 7B
BMGC_DS21950,BMG_DS080596,peroxisome biogenesis disorder 8A
BMGC_DS21951,BMG_DS080597,Peroxisome biogenesis disorder 8B
BMGC_DS21952,BMG_DS080598,Peroxisome biogenesis disorder 9B
BMGC_DS21953,BMG_DS080599,autosomal recessive distal hereditary motor neuronopathy 5
BMGC_DS21954,BMG_DS080600,congenital disorder of glycosylation It
BMGC_DS21955,BMG_DS080601,combined oxidative phosphorylation deficiency 11
BMGC_DS21956,BMG_DS080602,combined oxidative phosphorylation deficiency 12
BMGC_DS21957,BMG_DS080603,combined oxidative phosphorylation deficiency 13
BMGC_DS21958,BMG_DS080604,combined oxidative phosphorylation deficiency 14
BMGC_DS21959,BMG_DS080605,combined oxidative phosphorylation deficiency 15
BMGC_DS21960,BMG_DS080606,developmental and epileptic encephalopathy 14
BMGC_DS21961,BMG_DS080607,Schuurs-Hoeijmakers Syndrome
BMGC_DS21962,BMG_DS080608,congenital disorder of glycosylation Iu
BMGC_DS21963,BMG_DS080609,distal arthrogryposis type 5D
BMGC_DS21964,BMG_DS080610,autosomal recessive intellectual developmental disorder 35
BMGC_DS21965,BMG_DS080611,osteosclerotic metaphyseal dysplasia
BMGC_DS21966,BMG_DS080612,schizophrenia 18
BMGC_DS21967,BMG_DS080613,familial partial lipodystrophy type 5
BMGC_DS21968,BMG_DS080614,"neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies"
BMGC_DS21969,BMG_DS080615,spinal muscular atrophy with lower extremity predominant 2A
BMGC_DS21970,BMG_DS080616,oculocutaneous albinism type V
BMGC_DS21971,BMG_DS080617,multiple mitochondrial dysfunctions syndrome 3
BMGC_DS21972,BMG_DS080618,central precocious puberty 2
BMGC_DS21973,BMG_DS080619,autosomal recessive spinocerebellar ataxia 14
BMGC_DS21974,BMG_DS080620,coronin-1A deficiency
BMGC_DS21975,BMG_DS080621,mitochondrial DNA depletion syndrome 13
BMGC_DS21976,BMG_DS080622,Bainbridge-Ropers syndrome
BMGC_DS21977,BMG_DS080623,autosomal recessive intellectual developmental disorder 37
BMGC_DS21978,BMG_DS080624,autosomal dominant intellectual developmental disorder 21
BMGC_DS21979,BMG_DS080625,"alacrima, achalasia, and impaired intellectual development syndrome"
BMGC_DS21980,BMG_DS080626,familial hypobetalipoproteinemia 1
BMGC_DS21981,BMG_DS080627,autosomal dominant distal hereditary motor neuronopathy 6
BMGC_DS21982,BMG_DS080628,congenital disorder of glycosylation Ix
BMGC_DS21983,BMG_DS080629,autosomal recessive intellectual developmental disorder 41
BMGC_DS21984,BMG_DS080630,autosomal recessive spinocerebellar ataxia 15
BMGC_DS21985,BMG_DS080631,Bosch-Boonstra-Schaaf optic atrophy syndrome
BMGC_DS21986,BMG_DS080632,developmental and epileptic encephalopathy 19
BMGC_DS21987,BMG_DS080633,autosomal dominant intellectual developmental disorder 23
BMGC_DS21988,BMG_DS080634,common variable immunodeficiency 11
BMGC_DS21989,BMG_DS080635,autosomal recessive spinocerebellar ataxia 16
BMGC_DS21990,BMG_DS080636,pontocerebellar hypoplasia type 10
BMGC_DS21991,BMG_DS080637,autosomal recessive intellectual developmental disorder 43
BMGC_DS21992,BMG_DS080638,autosomal dominant intellectual developmental disorder 26
BMGC_DS21993,BMG_DS080639,Culler-Jones syndrome
BMGC_DS21994,BMG_DS080640,Helsmoortel-Van Der Aa Syndrome
BMGC_DS21995,BMG_DS080641,progressive familial intrahepatic cholestasis 4
BMGC_DS21996,BMG_DS080642,Tatton-Brown-Rahman syndrome
BMGC_DS21997,BMG_DS080643,orofacial cleft 14
BMGC_DS21998,BMG_DS080644,developmental and epileptic encephalopathy 25
BMGC_DS21999,BMG_DS080645,combined oxidative phosphorylation deficiency 21
BMGC_DS22000,BMG_DS080646,autosomal recessive intellectual developmental disorder 44
BMGC_DS22001,BMG_DS080647,orofaciodigital syndrome XIV
BMGC_DS22002,BMG_DS080648,spinocerebellar ataxia type 38
BMGC_DS22003,BMG_DS080649,autosomal recessive intellectual developmental disorder 45
BMGC_DS22004,BMG_DS080650,familial partial lipodystrophy type 6
BMGC_DS22005,BMG_DS080651,severe congenital neutropenia 6
BMGC_DS22006,BMG_DS080652,spinocerebellar ataxia type 40
BMGC_DS22007,BMG_DS080653,episodic ataxia type 8
BMGC_DS22008,BMG_DS080654,developmental and epileptic encephalopathy 26
BMGC_DS22009,BMG_DS080655,autosomal dominant intellectual developmental disorder 29
BMGC_DS22010,BMG_DS080656,muscular dystrophy-dystroglycanopathy type C12
BMGC_DS22011,BMG_DS080657,psoriasis 15
BMGC_DS22012,BMG_DS080658,autosomal recessive intellectual developmental disorder 46
BMGC_DS22013,BMG_DS080659,autosomal recessive spinocerebellar ataxia 17
BMGC_DS22014,BMG_DS080660,rhizomelic chondrodysplasia punctate type 4
BMGC_DS22015,BMG_DS080661,combined oxidative phosphorylation deficiency 23
BMGC_DS22016,BMG_DS080662,Ruijs-Aalfs syndrome
BMGC_DS22017,BMG_DS080663,chronic atrial and intestinal dysrhythmia
BMGC_DS22018,BMG_DS080664,isolated mitochondrial myopathy
BMGC_DS22019,BMG_DS080665,lissencephaly 6
BMGC_DS22020,BMG_DS080666,progressive myoclonus epilepsy 8
BMGC_DS22021,BMG_DS080667,combined oxidative phosphorylation deficiency 24
BMGC_DS22022,BMG_DS080668,congenital limbs-face contractures-hypotonia-developmental delay syndrome
BMGC_DS22023,BMG_DS080669,Arboleda-Tham syndrome
BMGC_DS22024,BMG_DS080670,autosomal recessive intellectual developmental disorder 48
BMGC_DS22025,BMG_DS080671,primary coenzyme Q10 deficiency 7
BMGC_DS22026,BMG_DS080672,congenital bile acid synthesis defect 5
BMGC_DS22027,BMG_DS080673,autosomal recessive spinocerebellar ataxia 19
BMGC_DS22028,BMG_DS080674,autosomal dominant intellectual developmental disorder 33
BMGC_DS22029,BMG_DS080675,developmental and epileptic encephalopathy 31A
BMGC_DS22030,BMG_DS080676,autosomal dominant intellectual developmental disorder 34
BMGC_DS22031,BMG_DS080677,autosomal recessive spinocerebellar ataxia 20
BMGC_DS22032,BMG_DS080678,autosomal dominant intellectual developmental disorder 36
BMGC_DS22033,BMG_DS080679,White-Sutton syndrome
BMGC_DS22034,BMG_DS080680,developmental and epileptic encephalopathy 32
BMGC_DS22035,BMG_DS080681,mandibulofacial dysostosis with alopecia
BMGC_DS22036,BMG_DS080682,multiple mitochondrial dysfunctions syndrome 4
BMGC_DS22037,BMG_DS080683,autosomal dominant intellectual developmental disorder 38
BMGC_DS22038,BMG_DS080684,cerebellar ataxia type 41
BMGC_DS22039,BMG_DS080685,"autoimmune interstitial lung, joint, and kidney disease"
BMGC_DS22040,BMG_DS080686,hypomyelinating leukodystrophy 10
BMGC_DS22041,BMG_DS080687,myoclonic-atonic epilepsy
BMGC_DS22042,BMG_DS080688,combined oxidative phosphorylation deficiency 25
BMGC_DS22043,BMG_DS080689,hereditary spastic paraplegia 74
BMGC_DS22044,BMG_DS080690,developmental and epileptic encephalopathy 50
BMGC_DS22045,BMG_DS080691,autosomal recessive intellectual developmental disorder 50
BMGC_DS22046,BMG_DS080692,hereditary sensory and autonomic neuropathy type 8
BMGC_DS22047,BMG_DS080693,Charcot-Marie-Tooth disease axonal type 2V
BMGC_DS22048,BMG_DS080694,cone-rod dystrophy 21
BMGC_DS22049,BMG_DS080695,autosomal recessive Emery-Dreifuss muscular dystrophy 3
BMGC_DS22050,BMG_DS080696,combined oxidative phosphorylation deficiency 26
BMGC_DS22051,BMG_DS080697,progressive myoclonus epilepsy 9
BMGC_DS22052,BMG_DS080698,Klippel-Feil syndrome 4
BMGC_DS22053,BMG_DS080699,spondyloepiphyseal dysplasia Stanescu type
BMGC_DS22054,BMG_DS080700,immunodeficiency 42
BMGC_DS22055,BMG_DS080701,"Charcot-Marie-Tooth disease, axonal type 2W"
BMGC_DS22056,BMG_DS080702,developmental and epileptic encephalopathy 35
BMGC_DS22057,BMG_DS080703,Charcot-Marie-Tooth disease axonal type 2X
BMGC_DS22058,BMG_DS080704,combined oxidative phosphorylation deficiency 27
BMGC_DS22059,BMG_DS080705,idiopathic generalized epilepsy 14
BMGC_DS22060,BMG_DS080706,Charcot-Marie-Tooth disease axonal type 2Z
BMGC_DS22061,BMG_DS080707,rhizomelic chondrodysplasia punctata type 5
BMGC_DS22062,BMG_DS080708,congenital disorder of glycosylation type IIn
BMGC_DS22063,BMG_DS080709,congenital symmetric circumferential skin creases 2
BMGC_DS22064,BMG_DS080710,orofacial cleft 15
BMGC_DS22065,BMG_DS080711,combined oxidative phosphorylation deficiency 28
BMGC_DS22066,BMG_DS080712,cerebellar ataxia type 42
BMGC_DS22067,BMG_DS080713,combined oxidative phosphorylation deficiency 29
BMGC_DS22068,BMG_DS080714,autosomal recessive limb-girdle muscular dystrophy type 2X
BMGC_DS22069,BMG_DS080715,autosomal recessive limb-girdle muscular dystrophy type 2W
BMGC_DS22070,BMG_DS080716,congenital disorder of glycosylation type IIo
BMGC_DS22071,BMG_DS080717,congenital disorder of glycosylation type IIp
BMGC_DS22072,BMG_DS080718,TANGO2-related metabolic encephalopathy and arrythmias
BMGC_DS22073,BMG_DS080719,diphthamide deficiency syndrome 1
BMGC_DS22074,BMG_DS080720,poor metabolism of thiopurines 2
BMGC_DS22075,BMG_DS080721,hereditary spastic paraplegia 76
BMGC_DS22076,BMG_DS080722,autosomal recessive spinocerebellar ataxia 23
BMGC_DS22077,BMG_DS080723,autosomal dominant intellectual developmental disorder 42
BMGC_DS22078,BMG_DS080724,combined oxidative phosphorylation deficiency 30
BMGC_DS22079,BMG_DS080725,autosomal dominant intellectual developmental disorder 43
BMGC_DS22080,BMG_DS080726,hypermanganesemia with dystonia 2
BMGC_DS22081,BMG_DS080727,otulipenia
BMGC_DS22082,BMG_DS080728,developmental and epileptic encephalopathy 42
BMGC_DS22083,BMG_DS080729,patterned macular dystrophy 3
BMGC_DS22084,BMG_DS080730,developmental and epileptic encephalopathy 46
BMGC_DS22085,BMG_DS080731,intellectual developmental disorder with cardiac arrhythmia
BMGC_DS22086,BMG_DS080732,Harel-Yoon syndrome
BMGC_DS22087,BMG_DS080733,autosomal recessive intellectual developmental disorder 57
BMGC_DS22088,BMG_DS080734,early onset progressive encephalopathy with brain atrophy and thin corpus callosum
BMGC_DS22089,BMG_DS080735,hereditary spastic paraplegia 78
BMGC_DS22090,BMG_DS080736,autosomal recessive limb-girdle muscular dystrophy type 2Z
BMGC_DS22091,BMG_DS080737,autosomal recessive intellectual developmental disorder 58
BMGC_DS22092,BMG_DS080738,childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
BMGC_DS22093,BMG_DS080739,amelogenesis imperfecta type 1J
BMGC_DS22094,BMG_DS080740,anterior segment dysgenesis 8
BMGC_DS22095,BMG_DS080741,autosomal recessive intellectual developmental disorder 59
BMGC_DS22096,BMG_DS080742,congenital disorder of glycosylation type IIq
BMGC_DS22097,BMG_DS080743,autosomal recessive intellectual developmental disorder 60
BMGC_DS22098,BMG_DS080744,"46,XX sex reversal 4"
BMGC_DS22099,BMG_DS080745,pituitary adenoma 5
BMGC_DS22100,BMG_DS080746,spastic ataxia 8
BMGC_DS22101,BMG_DS080747,autosomal recessive congenital ichthyosis 14
BMGC_DS22102,BMG_DS080748,autosomal recessive congenital ichthyosis 13
BMGC_DS22103,BMG_DS080749,autosomal dominant intellectual developmental disorder 45
BMGC_DS22104,BMG_DS080750,autosomal dominant intellectual developmental disorder 46
BMGC_DS22105,BMG_DS080751,multiple mitochondrial dysfunctions syndrome 5
BMGC_DS22106,BMG_DS080752,schizophrenia 19
BMGC_DS22107,BMG_DS080753,autosomal dominant intellectual developmental disorder 47
BMGC_DS22108,BMG_DS080754,pituitary adenoma 3
BMGC_DS22109,BMG_DS080755,pontocerebellar hypoplasia type 11
BMGC_DS22110,BMG_DS080756,3-methylglutaconic aciduria type 9
BMGC_DS22111,BMG_DS080757,combined oxidative phosphorylation deficiency 33
BMGC_DS22112,BMG_DS080758,multiple epiphyseal dysplasia 7
BMGC_DS22113,BMG_DS080759,autosomal dominant intellectual developmental disorder 48
BMGC_DS22114,BMG_DS080760,spinocerebellar ataxia 45
BMGC_DS22115,BMG_DS080761,spinocerebellar ataxia 46
BMGC_DS22116,BMG_DS080762,autosomal recessive intellectual developmental disorder 61
BMGC_DS22117,BMG_DS080763,autosomal dominant intellectual developmental disorder 50
BMGC_DS22118,BMG_DS080764,autosomal dominant intellectual developmental disorder 51
BMGC_DS22119,BMG_DS080765,autosomal dominant intellectual developmental disorder 52
BMGC_DS22120,BMG_DS080766,autosomal dominant intellectual developmental disorder 53
BMGC_DS22121,BMG_DS080767,autosomal dominant intellectual developmental disorder 54
BMGC_DS22122,BMG_DS080768,geleophysic dysplasia 3
BMGC_DS22123,BMG_DS080769,immunodeficiency 55
BMGC_DS22124,BMG_DS080770,amyotrophic lateral sclerosis type 23
BMGC_DS22125,BMG_DS080771,autosomal dominant intellectual developmental disorder 56
BMGC_DS22126,BMG_DS080772,combined oxidative phosphorylation deficiency 34
BMGC_DS22127,BMG_DS080773,amyotrophic lateral sclerosis type 24
BMGC_DS22128,BMG_DS080774,amyotrophic lateral sclerosis type 25
BMGC_DS22129,BMG_DS080775,juvenile myoclonic epilepsy 10
BMGC_DS22130,BMG_DS080776,orofaciodigital syndrome XVIII
BMGC_DS22131,BMG_DS080777,multiple mitochondrial dysfunctions syndrome 6
BMGC_DS22132,BMG_DS080778,Ehlers-Danlos syndrome classic-like 2
BMGC_DS22133,BMG_DS080779,autosomal recessive intellectual developmental disorder 63
BMGC_DS22134,BMG_DS080780,autosomal recessive intellectual developmental disorder 64
BMGC_DS22135,BMG_DS080781,autosomal recessive intellectual developmental disorder 65
BMGC_DS22136,BMG_DS080782,developmental and epileptic encephalopathy 71
BMGC_DS22137,BMG_DS080783,idiopathic generalized epilepsy 15
BMGC_DS22138,BMG_DS080784,developmental and epileptic encephalopathy 73
BMGC_DS22139,BMG_DS080785,spondyloepimetaphyseal dysplasia with joint laxity type 3
BMGC_DS22140,BMG_DS080786,combined oxidative phosphorylation deficiency 39
BMGC_DS22141,BMG_DS080787,congenital myopathy 14
BMGC_DS22142,BMG_DS080788,long QT syndrome 8
BMGC_DS22143,BMG_DS080789,congenital nongoitrous hypothyroidism 7
BMGC_DS22144,BMG_DS080790,spondyloepiphyseal dysplasia Nishimura type
BMGC_DS22145,BMG_DS080791,primary ciliary dyskinesia 42
BMGC_DS22146,BMG_DS080792,congenital megabladder
BMGC_DS22147,BMG_DS080793,combined oxidative phosphorylation deficiency 40
BMGC_DS22148,BMG_DS080794,galactosemia 4
BMGC_DS22149,BMG_DS080795,oculopharyngodistal myopathy 2
BMGC_DS22150,BMG_DS080796,spondylometaphyseal dysplasia with corneal dystrophy
BMGC_DS22151,BMG_DS080797,AMED syndrome
BMGC_DS22152,BMG_DS080798,Mahvash Disease
BMGC_DS22153,BMG_DS080799,autosomal recessive intellectual developmental disorder 73
BMGC_DS22154,BMG_DS080800,autosomal recessive intellectual developmental disorder 76
BMGC_DS22155,BMG_DS080801,autosomal recessive intellectual developmental disorder 77
BMGC_DS22156,BMG_DS080802,developmental and epileptic encephalopathy 107
BMGC_DS22157,BMG_DS080803,hereditary spastic paraplegia 70
BMGC_DS22158,BMG_DS080804,nevoid basal cell carcinoma syndrome 2
BMGC_DS22159,BMG_DS080805,bradyopsia 2
BMGC_DS22160,BMG_DS080806,epidermolytic palmoplantar keratoderma 2
BMGC_DS22161,BMG_DS080807,spermatogenic failure 95
BMGC_DS22162,BMG_DS080808,congenital dyserythropoietic anemia type IVb
BMGC_DS22163,BMG_DS080809,primary cutaneous amyloidosis
BMGC_DS22164,BMG_DS080810,intracranial berry aneurysm
BMGC_DS22165,BMG_DS080811,distal arthrogryposis
BMGC_DS22166,BMG_DS080812,Stickler syndrome
BMGC_DS22167,BMG_DS080813,cerebral cavernous malformation
BMGC_DS22168,BMG_DS080814,orofacial cleft
BMGC_DS22169,BMG_DS080815,familial febrile seizures
BMGC_DS22170,BMG_DS080816,craniometaphyseal dysplasia
BMGC_DS22171,BMG_DS080817,Kenny-Caffey syndrome
BMGC_DS22172,BMG_DS080818,retinal macular dystrophy
BMGC_DS22173,BMG_DS080819,Teebi hypertelorism syndrome
BMGC_DS22174,BMG_DS080820,hyper IgE syndrome
BMGC_DS22175,BMG_DS080821,LADD syndrome
BMGC_DS22176,BMG_DS080822,autosomal dominant intellectual developmental disorder
BMGC_DS22177,BMG_DS080823,multiple benign circumferential skin creases on limbs
BMGC_DS22178,BMG_DS080824,spinal muscular atrophy with lower extremity predominant
BMGC_DS22179,BMG_DS080825,nonsyndromic congenital nail disorder
BMGC_DS22180,BMG_DS080826,oculopharyngodistal myopathy
BMGC_DS22181,BMG_DS080827,polycystic kidney disease
BMGC_DS22182,BMG_DS080828,brain small vessel disease
BMGC_DS22183,BMG_DS080829,progeroid syndrome
BMGC_DS22184,BMG_DS080830,autosomal dominant distal hereditary motor neuronopathy
BMGC_DS22185,BMG_DS080831,proximal symphalangism
BMGC_DS22186,BMG_DS080832,multiple synostoses syndrome
BMGC_DS22187,BMG_DS080833,familial glucocorticoid deficiency
BMGC_DS22188,BMG_DS080834,alopecia-mental retardation syndrome
BMGC_DS22189,BMG_DS080835,ARC syndrome
BMGC_DS22190,BMG_DS080836,3-methylcrotonyl-CoA carboxylase deficiency
BMGC_DS22191,BMG_DS080837,congenital disorder of glycosylation type I
BMGC_DS22192,BMG_DS080838,autosomal recessive cerebellar ataxia
BMGC_DS22193,BMG_DS080839,"craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome"
BMGC_DS22194,BMG_DS080840,peroxisomal biogenesis disorder
BMGC_DS22195,BMG_DS080841,cerebrooculofacioskeletal syndrome
BMGC_DS22196,BMG_DS080842,congenital diarrhea
BMGC_DS22197,BMG_DS080843,congenital muscular dystrophy-dystroglycanopathy type A
BMGC_DS22198,BMG_DS080844,benign recurrent intrahepatic cholestasis
BMGC_DS22199,BMG_DS080845,Baraitser-Winter syndrome
BMGC_DS22200,BMG_DS080846,mandibuloacral dysplasia
BMGC_DS22201,BMG_DS080847,autosomal recessive intellectual developmental disorder
BMGC_DS22202,BMG_DS080848,primary autosomal recessive microcephaly
BMGC_DS22203,BMG_DS080849,nuclear type mitochondrial complex I deficiency
BMGC_DS22204,BMG_DS080850,proteosome-associated autoinflammatory syndrome
BMGC_DS22205,BMG_DS080851,spermatogenic failure
BMGC_DS22206,BMG_DS080852,pancreatic agenesis
BMGC_DS22207,BMG_DS080853,congenital bilateral absence of vas deferens
BMGC_DS22208,BMG_DS080854,spondylocostal dysostosis
BMGC_DS22209,BMG_DS080855,ectodermal dysplasia and immune deficiency
BMGC_DS22210,BMG_DS080856,cerebral creatine deficiency syndrome
BMGC_DS22211,BMG_DS080857,lymphoproliferative syndrome
BMGC_DS22212,BMG_DS080858,developmental and epileptic encephalopathy
BMGC_DS22213,BMG_DS080859,syndromic X-linked intellectual disability
BMGC_DS22214,BMG_DS080860,syndromic microphthalmia
BMGC_DS22215,BMG_DS080861,MLS syndrome
BMGC_DS22216,BMG_DS080862,hypomyelinating leukodystrophy
BMGC_DS22217,BMG_DS080863,Y-linked deafness
BMGC_DS22218,BMG_DS080864,D-2-hydroxyglutaric aciduria
BMGC_DS22219,BMG_DS080865,benign familial infantile epilepsy
BMGC_DS22220,BMG_DS080866,mitochondrial DNA depletion syndrome
BMGC_DS22221,BMG_DS080867,autosomal recessive distal hereditary motor neuronopathy
BMGC_DS22222,BMG_DS080868,advanced sleep phase syndrome
BMGC_DS22223,BMG_DS080869,familial focal epilepsy with variable foci
BMGC_DS22224,BMG_DS080870,coenzyme Q10 deficiency disease
BMGC_DS22225,BMG_DS080871,congenital generalized lipodystrophy
BMGC_DS22226,BMG_DS080872,combined oxidative phosphorylation deficiency
BMGC_DS22227,BMG_DS080873,Kleefstra syndrome
BMGC_DS22228,BMG_DS080874,hypophosphatemic nephrolithiasis/osteoporosis
BMGC_DS22229,BMG_DS080875,muscular dystrophy-dystroglycanopathy type B
BMGC_DS22230,BMG_DS080876,hypermanganesemia with dystonia
BMGC_DS22231,BMG_DS080877,hot water epilepsy
BMGC_DS22232,BMG_DS080878,complex cortical dysplasia with other brain malformations
BMGC_DS22233,BMG_DS080879,multiple congenital anomalies-hypotonia-seizures syndrome
BMGC_DS22234,BMG_DS080880,familial episodic pain syndrome
BMGC_DS22235,BMG_DS080881,infantile liver failure syndrome
BMGC_DS22236,BMG_DS080882,diphthamide deficiency syndrome
BMGC_DS22237,BMG_DS080883,arthrogryposis multiplex congenita
BMGC_DS22238,BMG_DS080884,Bryant-Li-Bhoj neurodevelopmental syndrome
BMGC_DS22239,BMG_DS080904,"Botulism, unspecified"
BMGC_DS22240,BMG_DS080952,
BMGC_DS22241,BMG_DS080976,
BMGC_DS22242,BMG_DS080978,
BMGC_DS22243,BMG_DS081114,HIV disease clinical stage 1 without mention of tuberculosis or malaria
BMGC_DS22244,BMG_DS081117,
BMGC_DS22245,BMG_DS081174,
BMGC_DS22246,BMG_DS081227,Streptococcus pneumoniae
BMGC_DS22247,BMG_DS081342,Hepatocellular carcinoma of liver
BMGC_DS22248,BMG_DS081907,
BMGC_DS22249,BMG_DS081908,
BMGC_DS22250,BMG_DS081909,
BMGC_DS22251,BMG_DS081910,
BMGC_DS22252,BMG_DS081911,
BMGC_DS22253,BMG_DS081912,
BMGC_DS22254,BMG_DS081913,
BMGC_DS22255,BMG_DS081914,
BMGC_DS22256,BMG_DS081916,
BMGC_DS22257,BMG_DS081917,
BMGC_DS22258,BMG_DS081918,
BMGC_DS22259,BMG_DS081919,
BMGC_DS22260,BMG_DS081920,
BMGC_DS22261,BMG_DS081921,
BMGC_DS22262,BMG_DS081922,
BMGC_DS22263,BMG_DS081923,
BMGC_DS22264,BMG_DS081924,
BMGC_DS22265,BMG_DS081925,
BMGC_DS22266,BMG_DS081926,
BMGC_DS22267,BMG_DS081927,
BMGC_DS22268,BMG_DS081928,
BMGC_DS22269,BMG_DS081929,
BMGC_DS22270,BMG_DS081930,
BMGC_DS22271,BMG_DS081931,
BMGC_DS22272,BMG_DS081932,
BMGC_DS22273,BMG_DS081933,
BMGC_DS22274,BMG_DS081934,
BMGC_DS22275,BMG_DS081935,
BMGC_DS22276,BMG_DS081936,
BMGC_DS22277,BMG_DS081937,
BMGC_DS22278,BMG_DS081938,
BMGC_DS22279,BMG_DS081949,
BMGC_DS22280,BMG_DS081950,
BMGC_DS22281,BMG_DS081951,
BMGC_DS22282,BMG_DS081952,
BMGC_DS22283,BMG_DS081953,
BMGC_DS22284,BMG_DS081954,
BMGC_DS22285,BMG_DS081955,
BMGC_DS22286,BMG_DS081956,
BMGC_DS22287,BMG_DS081957,
BMGC_DS22288,BMG_DS081958,
BMGC_DS22289,BMG_DS081972,"Neoplasms of haematopoietic or lymphoid tissues, unspecified | transient myeloproliferative syndrome"
BMGC_DS22290,BMG_DS081973,"Neoplasms of haematopoietic or lymphoid tissues, unspecified | autoimmune lymphoproliferative syndrome type 2B | lymphoproliferative syndrome 1 | lymphoproliferative syndrome 2"
BMGC_DS22291,BMG_DS081974,
BMGC_DS22292,BMG_DS081975,
BMGC_DS22293,BMG_DS081976,
BMGC_DS22294,BMG_DS081977,
BMGC_DS22295,BMG_DS081978,
BMGC_DS22296,BMG_DS081979,
BMGC_DS22297,BMG_DS081980,
BMGC_DS22298,BMG_DS081981,
BMGC_DS22299,BMG_DS081982,
BMGC_DS22300,BMG_DS082038,Other specified inherited qualitative platelet defects
BMGC_DS22301,BMG_DS082039,Hyperimmunoglobulin E syndromes
BMGC_DS22302,BMG_DS082082,Type 2 diabetes mellitus | maturity-onset diabetes of the young
BMGC_DS22303,BMG_DS082121,Ectopic ACTH syndrome | ectopic Cushing syndrome
BMGC_DS22304,BMG_DS082136,Peripheral precocious puberty | aromatase excess syndrome
BMGC_DS22305,BMG_DS082179,"Obesity, unspecified"
BMGC_DS22306,BMG_DS082187,"D-bifunctional protein deficiency | Inborn errors of fatty acid oxidation or ketone body metabolism, unspecified | carnitine palmitoyltransferase I deficiency"
BMGC_DS22307,BMG_DS082189,Disorders of methionine cycle or sulphur amino acid metabolism | glycine N-methyltransferase deficiency | hypermethioninemia due to adenosine kinase deficiency | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
BMGC_DS22308,BMG_DS082197,Glycogen storage disease | glycogen storage disease IXa | glycogen storage disease IXd
BMGC_DS22309,BMG_DS082198,lethal congenital glycogen storage disease of heart
BMGC_DS22310,BMG_DS082204,Neuronal ceroid lipofuscinosis | neuronal ceroid lipofuscinosis 1 | neuronal ceroid lipofuscinosis 10 | neuronal ceroid lipofuscinosis 11 | neuronal ceroid lipofuscinosis 13 | neuronal ceroid lipofuscinosis 2 | neuronal ceroid lipofuscinosis 3 | neuronal ceroid lipofuscinosis 4 | neuronal ceroid lipofuscinosis 5 | neuronal ceroid lipofuscinosis 6A | neuronal ceroid lipofuscinosis 6B | neuronal ceroid lipofuscinosis 7 | neuronal ceroid lipofuscinosis 8 | neuronal ceroid lipofuscinosis 8 northern epilepsy variant | neuronal ceroid lipofuscinosis 9
BMGC_DS22311,BMG_DS082206,Mucopolysaccharidosis type 1 | Scheie syndrome
BMGC_DS22312,BMG_DS082211,Primary hypercholesterolaemia | autosomal recessive hypercholesterolemia
BMGC_DS22313,BMG_DS082223,"African iron overload | Disorders of iron metabolism, unspecified | hemochromatosis type 1 | hemochromatosis type 5"
BMGC_DS22314,BMG_DS082225,"Disorders of magnesium metabolism, unspecified | intestinal hypomagnesemia 1 | primary hypomagnesemia | renal hypomagnesemia 2 | renal hypomagnesemia 3 | renal hypomagnesemia 4 | renal hypomagnesemia 6"
BMGC_DS22315,BMG_DS082226,Disorders of calcium metabolism | familial hypocalciuric hypercalcemia | familial hypocalciuric hypercalcemia 1 | familial hypocalciuric hypercalcemia 2 | familial hypocalciuric hypercalcemia 3
BMGC_DS22316,BMG_DS082230,CINCA Syndrome | Nonneuropathic heredofamilial amyloidosis | TNF receptor–associated periodic syndrome
BMGC_DS22317,BMG_DS082251,CADASIL 1 | CADASIL 2 | Dementia due to cerebrovascular disease
BMGC_DS22318,BMG_DS082273,Mild neurocognitive disorder
BMGC_DS22319,BMG_DS082454,Post traumatic stress disorder
BMGC_DS22320,BMG_DS082479,"Anorexia Nervosa, unspecified"
BMGC_DS22321,BMG_DS082556,"Disorder of intellectual development, moderate | X-linked intellectual disability-psychosis-macroorchidism syndrome"
BMGC_DS22322,BMG_DS082559,syndromic X-linked intellectual disability 94
BMGC_DS22323,BMG_DS082590,Rett syndrome
BMGC_DS22324,BMG_DS082646,Huntington's disease-like 1 | Huntington's disease-like 2
BMGC_DS22325,BMG_DS082648,"Ataxic disorders, unspecified | hypomyelinating leukodystrophy 11 | hypomyelinating leukodystrophy 7 | hypomyelinating leukodystrophy 8"
BMGC_DS22326,BMG_DS082650,"Hereditary spastic paraplegia, unspecified | Troyer syndrome | hereditary spastic paraplegia 10 | hereditary spastic paraplegia 11 | hereditary spastic paraplegia 12 | hereditary spastic paraplegia 13 | hereditary spastic paraplegia 14 | hereditary spastic paraplegia 15 | hereditary spastic paraplegia 16 | hereditary spastic paraplegia 17 | hereditary spastic paraplegia 18 | hereditary spastic paraplegia 19 | hereditary spastic paraplegia 2 | hereditary spastic paraplegia 23 | hereditary spastic paraplegia 24 | hereditary spastic paraplegia 25 | hereditary spastic paraplegia 26 | hereditary spastic paraplegia 27 | hereditary spastic paraplegia 28 | hereditary spastic paraplegia 29 | hereditary spastic paraplegia 30 | hereditary spastic paraplegia 31 | hereditary spastic paraplegia 32 | hereditary spastic paraplegia 34 | hereditary spastic paraplegia 35 | hereditary spastic paraplegia 36 | hereditary spastic paraplegia 37 | hereditary spastic paraplegia 38 | hereditary spastic paraplegia 39 | hereditary spastic paraplegia 3A | hereditary spastic paraplegia 4 | hereditary spastic paraplegia 41 | hereditary spastic paraplegia 42 | hereditary spastic paraplegia 43 | hereditary spastic paraplegia 44 | hereditary spastic paraplegia 45 | hereditary spastic paraplegia 46 | hereditary spastic paraplegia 48 | hereditary spastic paraplegia 49 | hereditary spastic paraplegia 53 | hereditary spastic paraplegia 54 | hereditary spastic paraplegia 55 | hereditary spastic paraplegia 56 | hereditary spastic paraplegia 57 | hereditary spastic paraplegia 5A | hereditary spastic paraplegia 6 | hereditary spastic paraplegia 61 | hereditary spastic paraplegia 62 | hereditary spastic paraplegia 63 | hereditary spastic paraplegia 64 | hereditary spastic paraplegia 7 | hereditary spastic paraplegia 72A | hereditary spastic paraplegia 73 | hereditary spastic paraplegia 75 | hereditary spastic paraplegia 77 | hereditary spastic paraplegia 8 | hereditary spastic paraplegia 9A | hereditary spastic paraplegia 9B"
BMGC_DS22327,BMG_DS082652,"Motor neuron disease, unspecified | amyotrophic lateral sclerosis type 1 | amyotrophic lateral sclerosis type 2 | amyotrophic lateral sclerosis type 4 | autosomal recessive distal hereditary motor neuronopathy 1"
BMGC_DS22328,BMG_DS082658,Iron overload diseases | neurodegeneration with brain iron accumulation 2a | neurodegeneration with brain iron accumulation 2b | neurodegeneration with brain iron accumulation 4 | neurodegeneration with brain iron accumulation 5 | neurodegeneration with brain iron accumulation 6
BMGC_DS22329,BMG_DS082683,"Multiple sclerosis or other white matter disorders, unspecified | hypomyelinating leukodystrophy 5"
BMGC_DS22330,BMG_DS082707,"Transient ischaemic attack, unspecified"
BMGC_DS22331,BMG_DS082765,
BMGC_DS22332,BMG_DS082768,
BMGC_DS22333,BMG_DS082773,"Muscular dystrophy, unspecified | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | autosomal dominant limb-girdle muscular dystrophy | autosomal dominant limb-girdle muscular dystrophy type 1 | autosomal dominant limb-girdle muscular dystrophy type 1H | autosomal dominant limb-girdle muscular dystrophy type 2 | autosomal dominant limb-girdle muscular dystrophy type 3 | autosomal recessive limb-girdle muscular dystrophy | autosomal recessive limb-girdle muscular dystrophy type 2A | autosomal recessive limb-girdle muscular dystrophy type 2B | autosomal recessive limb-girdle muscular dystrophy type 2C | autosomal recessive limb-girdle muscular dystrophy type 2D | autosomal recessive limb-girdle muscular dystrophy type 2E | autosomal recessive limb-girdle muscular dystrophy type 2F | autosomal recessive limb-girdle muscular dystrophy type 2G | autosomal recessive limb-girdle muscular dystrophy type 2H | autosomal recessive limb-girdle muscular dystrophy type 2I | autosomal recessive limb-girdle muscular dystrophy type 2J | autosomal recessive limb-girdle muscular dystrophy type 2K | autosomal recessive limb-girdle muscular dystrophy type 2L | autosomal recessive limb-girdle muscular dystrophy type 2M | autosomal recessive limb-girdle muscular dystrophy type 2N | autosomal recessive limb-girdle muscular dystrophy type 2O | autosomal recessive limb-girdle muscular dystrophy type 2P | autosomal recessive limb-girdle muscular dystrophy type 2Q | autosomal recessive limb-girdle muscular dystrophy type 2S | autosomal recessive limb-girdle muscular dystrophy type 2T | autosomal recessive limb-girdle muscular dystrophy type 2U | autosomal recessive limb-girdle muscular dystrophy type 2Y | myofibrillar myopathy 1"
BMGC_DS22334,BMG_DS082774,"Myotonic disorders, unspecified | Schwartz-Jampel syndrome 1"
BMGC_DS22335,BMG_DS082775,"Congenital myopathies, unspecified | congenital muscular dystrophy 1B | congenital muscular dystrophy due to LMNA mutation | congenital muscular dystrophy due to integrin alpha-7 deficiency | megaconial type congenital muscular dystrophy | muscular dystrophy-dystroglycanopathy | muscular dystrophy-dystroglycanopathy type B5 | muscular dystrophy-dystroglycanopathy type B6"
BMGC_DS22336,BMG_DS082879,posterior polymorphous corneal dystrophy 1 | posterior polymorphous corneal dystrophy 2 | posterior polymorphous corneal dystrophy 3
BMGC_DS22337,BMG_DS083025,Acquired sensorineural hearing loss | X-linked nonsyndromic deafness | autosomal dominant auditory neuropathy 1 | autosomal dominant nonsyndromic deafness | autosomal dominant nonsyndromic deafness 1 | autosomal dominant nonsyndromic deafness 10 | autosomal dominant nonsyndromic deafness 11 | autosomal dominant nonsyndromic deafness 12 | autosomal dominant nonsyndromic deafness 13 | autosomal dominant nonsyndromic deafness 15 | autosomal dominant nonsyndromic deafness 16 | autosomal dominant nonsyndromic deafness 17 | autosomal dominant nonsyndromic deafness 18 | autosomal dominant nonsyndromic deafness 20 | autosomal dominant nonsyndromic deafness 21 | autosomal dominant nonsyndromic deafness 22 | autosomal dominant nonsyndromic deafness 23 | autosomal dominant nonsyndromic deafness 24 | autosomal dominant nonsyndromic deafness 25 | autosomal dominant nonsyndromic deafness 27 | autosomal dominant nonsyndromic deafness 28 | autosomal dominant nonsyndromic deafness 2A | autosomal dominant nonsyndromic deafness 2B | autosomal dominant nonsyndromic deafness 30 | autosomal dominant nonsyndromic deafness 31 | autosomal dominant nonsyndromic deafness 33 | autosomal dominant nonsyndromic deafness 36 | autosomal dominant nonsyndromic deafness 3A | autosomal dominant nonsyndromic deafness 3B | autosomal dominant nonsyndromic deafness 40 | autosomal dominant nonsyndromic deafness 41 | autosomal dominant nonsyndromic deafness 43 | autosomal dominant nonsyndromic deafness 44 | autosomal dominant nonsyndromic deafness 47 | autosomal dominant nonsyndromic deafness 48 | autosomal dominant nonsyndromic deafness 49 | autosomal dominant nonsyndromic deafness 4A | autosomal dominant nonsyndromic deafness 4B | autosomal dominant nonsyndromic deafness 5 | autosomal dominant nonsyndromic deafness 50 | autosomal dominant nonsyndromic deafness 51 | autosomal dominant nonsyndromic deafness 53 | autosomal dominant nonsyndromic deafness 54 | autosomal dominant nonsyndromic deafness 56 | autosomal dominant nonsyndromic deafness 58 | autosomal dominant nonsyndromic deafness 59 | autosomal dominant nonsyndromic deafness 6 | autosomal dominant nonsyndromic deafness 64 | autosomal dominant nonsyndromic deafness 65 | autosomal dominant nonsyndromic deafness 66 | autosomal dominant nonsyndromic deafness 67 | autosomal dominant nonsyndromic deafness 68 | autosomal dominant nonsyndromic deafness 69 | autosomal dominant nonsyndromic deafness 7 | autosomal dominant nonsyndromic deafness 70 | autosomal dominant nonsyndromic deafness 9 | autosomal recessive nonsyndromic deafness | autosomal recessive nonsyndromic deafness 101 | autosomal recessive nonsyndromic deafness 102 | autosomal recessive nonsyndromic deafness 103 | autosomal recessive nonsyndromic deafness 104 | autosomal recessive nonsyndromic deafness 12 | autosomal recessive nonsyndromic deafness 13 | autosomal recessive nonsyndromic deafness 14 | autosomal recessive nonsyndromic deafness 15 | autosomal recessive nonsyndromic deafness 16 | autosomal recessive nonsyndromic deafness 17 | autosomal recessive nonsyndromic deafness 18A | autosomal recessive nonsyndromic deafness 18B | autosomal recessive nonsyndromic deafness 1A | autosomal recessive nonsyndromic deafness 1B | autosomal recessive nonsyndromic deafness 2 | autosomal recessive nonsyndromic deafness 20 | autosomal recessive nonsyndromic deafness 21 | autosomal recessive nonsyndromic deafness 22 | autosomal recessive nonsyndromic deafness 23 | autosomal recessive nonsyndromic deafness 24 | autosomal recessive nonsyndromic deafness 25 | autosomal recessive nonsyndromic deafness 26 | autosomal recessive nonsyndromic deafness 27 | autosomal recessive nonsyndromic deafness 28 | autosomal recessive nonsyndromic deafness 29 | autosomal recessive nonsyndromic deafness 3 | autosomal recessive nonsyndromic deafness 30 | autosomal recessive nonsyndromic deafness 31 | autosomal recessive nonsyndromic deafness 32 | autosomal recessive nonsyndromic deafness 33 | autosomal recessive nonsyndromic deafness 35 | autosomal recessive nonsyndromic deafness 36 | autosomal recessive nonsyndromic deafness 37 | autosomal recessive nonsyndromic deafness 38 | autosomal recessive nonsyndromic deafness 39 | autosomal recessive nonsyndromic deafness 4 | autosomal recessive nonsyndromic deafness 40 | autosomal recessive nonsyndromic deafness 42 | autosomal recessive nonsyndromic deafness 44 | autosomal recessive nonsyndromic deafness 45 | autosomal recessive nonsyndromic deafness 46 | autosomal recessive nonsyndromic deafness 47 | autosomal recessive nonsyndromic deafness 48 | autosomal recessive nonsyndromic deafness 49 | autosomal recessive nonsyndromic deafness 5 | autosomal recessive nonsyndromic deafness 51 | autosomal recessive nonsyndromic deafness 53 | autosomal recessive nonsyndromic deafness 55 | autosomal recessive nonsyndromic deafness 59 | autosomal recessive nonsyndromic deafness 6 | autosomal recessive nonsyndromic deafness 61 | autosomal recessive nonsyndromic deafness 62 | autosomal recessive nonsyndromic deafness 63 | autosomal recessive nonsyndromic deafness 65 | autosomal recessive nonsyndromic deafness 66 | autosomal recessive nonsyndromic deafness 67 | autosomal recessive nonsyndromic deafness 68 | autosomal recessive nonsyndromic deafness 7 | autosomal recessive nonsyndromic deafness 70 | autosomal recessive nonsyndromic deafness 71 | autosomal recessive nonsyndromic deafness 74 | autosomal recessive nonsyndromic deafness 76 | autosomal recessive nonsyndromic deafness 77 | autosomal recessive nonsyndromic deafness 79 | autosomal recessive nonsyndromic deafness 8 | autosomal recessive nonsyndromic deafness 83 | autosomal recessive nonsyndromic deafness 84A | autosomal recessive nonsyndromic deafness 84B | autosomal recessive nonsyndromic deafness 85 | autosomal recessive nonsyndromic deafness 86 | autosomal recessive nonsyndromic deafness 88 | autosomal recessive nonsyndromic deafness 89 | autosomal recessive nonsyndromic deafness 9 | autosomal recessive nonsyndromic deafness 91 | autosomal recessive nonsyndromic deafness 93 | autosomal recessive nonsyndromic deafness 96 | autosomal recessive nonsyndromic deafness 97 | autosomal recessive nonsyndromic deafness 98
BMGC_DS22338,BMG_DS083051,
BMGC_DS22339,BMG_DS083109,"Dilated cardiomyopathy, unspecified | dilated cardiomyopathy 1AA | dilated cardiomyopathy 1B | dilated cardiomyopathy 1BB | dilated cardiomyopathy 1C | dilated cardiomyopathy 1CC | dilated cardiomyopathy 1D | dilated cardiomyopathy 1DD | dilated cardiomyopathy 1E | dilated cardiomyopathy 1EE | dilated cardiomyopathy 1FF | dilated cardiomyopathy 1G | dilated cardiomyopathy 1GG | dilated cardiomyopathy 1H | dilated cardiomyopathy 1HH | dilated cardiomyopathy 1I | dilated cardiomyopathy 1II | dilated cardiomyopathy 1JJ | dilated cardiomyopathy 1K | dilated cardiomyopathy 1KK | dilated cardiomyopathy 1L | dilated cardiomyopathy 1M | dilated cardiomyopathy 1NN | dilated cardiomyopathy 1O | dilated cardiomyopathy 1P | dilated cardiomyopathy 1Q | dilated cardiomyopathy 1R | dilated cardiomyopathy 1S | dilated cardiomyopathy 1T | dilated cardiomyopathy 1U | dilated cardiomyopathy 1V | dilated cardiomyopathy 1W | dilated cardiomyopathy 1X | dilated cardiomyopathy 1Y | dilated cardiomyopathy 1Z | dilated cardiomyopathy 2A | dilated cardiomyopathy 2B"
BMGC_DS22340,BMG_DS083114,catecholaminergic polymorphic ventricular tachycardia 1
BMGC_DS22341,BMG_DS083128,"Conduction disorders, unspecified | long QT syndrome 1 | long QT syndrome 13 | long QT syndrome 14 | long QT syndrome 15"
BMGC_DS22342,BMG_DS083134,"Ventricular tachycardia, unspecified | catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 3 | catecholaminergic polymorphic ventricular tachycardia 4 | catecholaminergic polymorphic ventricular tachycardia 5"
BMGC_DS22343,BMG_DS083234,BuddChiari syndrome
BMGC_DS22344,BMG_DS083257,
BMGC_DS22345,BMG_DS083312,Allergic asthma
BMGC_DS22346,BMG_DS083314,Asthma
BMGC_DS22347,BMG_DS083341,
BMGC_DS22348,BMG_DS083347,"Structural developmental anomalies of teeth and periodontal tissues, unspecified | X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 | amelogenesis imperfecta hypomaturation type 2A2 | amelogenesis imperfecta hypomaturation type 2A3 | amelogenesis imperfecta hypomaturation type 2A4 | amelogenesis imperfecta hypomaturation type 2A5 | amelogenesis imperfecta type 1A | amelogenesis imperfecta type 1B | amelogenesis imperfecta type 1C | amelogenesis imperfecta type 1E | amelogenesis imperfecta type 1F | amelogenesis imperfecta type 1G | amelogenesis imperfecta type 1H | amelogenesis imperfecta type 2A1 | amelogenesis imperfecta type 3A | amelogenesis imperfecta type 4"
BMGC_DS22349,BMG_DS083410,"Columnar metaplastic epithelium of the oesophagus, unspecified"
BMGC_DS22350,BMG_DS083412,
BMGC_DS22351,BMG_DS083414,
BMGC_DS22352,BMG_DS083456,
BMGC_DS22353,BMG_DS083458,
BMGC_DS22354,BMG_DS083461,
BMGC_DS22355,BMG_DS083462,
BMGC_DS22356,BMG_DS083465,
BMGC_DS22357,BMG_DS083468,
BMGC_DS22358,BMG_DS083471,
BMGC_DS22359,BMG_DS083472,
BMGC_DS22360,BMG_DS083474,
BMGC_DS22361,BMG_DS083476,
BMGC_DS22362,BMG_DS083478,
BMGC_DS22363,BMG_DS083483,
BMGC_DS22364,BMG_DS083498,"Diseases of the digestive system, unspecified"
BMGC_DS22365,BMG_DS083593,
BMGC_DS22366,BMG_DS083619,Allergic contact dermatitis due to metals or metal salts | chromium allergic contact dermatitis | nickel allergic contact dermatitis
BMGC_DS22367,BMG_DS083657,Palmoplantar pustulosis
BMGC_DS22368,BMG_DS083658,Guttate psoriasis
BMGC_DS22369,BMG_DS083669,familial cold autoinflammatory syndrome | familial cold autoinflammatory syndrome 1 | familial cold autoinflammatory syndrome 3 | familial cold autoinflammatory syndrome 4
BMGC_DS22370,BMG_DS083779,
BMGC_DS22371,BMG_DS083796,
BMGC_DS22372,BMG_DS083807,
BMGC_DS22373,BMG_DS083808,
BMGC_DS22374,BMG_DS083812,Juvenile psoriatic arthritis
BMGC_DS22375,BMG_DS083813,
BMGC_DS22376,BMG_DS083831,
BMGC_DS22377,BMG_DS083857,"Acquired deformities of limbs, unspecified | Bruck syndrome"
BMGC_DS22378,BMG_DS083897,Libman-Sacks endocarditis
BMGC_DS22379,BMG_DS083903,Undifferentiated nonorgan specific systemic autoimmune disease
BMGC_DS22380,BMG_DS083993,
BMGC_DS22381,BMG_DS084120,
BMGC_DS22382,BMG_DS084122,
BMGC_DS22383,BMG_DS084124,
BMGC_DS22384,BMG_DS084185,"Neuromuscular dysfunction of bladder, not elsewhere classified"
BMGC_DS22385,BMG_DS084239,
BMGC_DS22386,BMG_DS084242,
BMGC_DS22387,BMG_DS084243,
BMGC_DS22388,BMG_DS084465,Gestational pemphigoid | pemphigus gestationis
BMGC_DS22389,BMG_DS085000,"Cerebral structural developmental anomalies, unspecified | Joubert syndrome | complex cortical dysplasia with other brain malformations 1 | pontocerebellar hypoplasia type 2D | pontocerebellar hypoplasia type 7 | pontocerebellar hypoplasia type 8 | pontocerebellar hypoplasia type 9 | short-rib thoracic dysplasia 14 with polydactyly | syndromic X-linked intellectual disability Najm type"
BMGC_DS22390,BMG_DS085036,Congenital cataract | cataract 1 multiple types | cataract 10 multiple types | cataract 11 multiple types | cataract 12 multiple types | cataract 13 with adult i phenotype | cataract 14 multiple types | cataract 15 multiple types | cataract 16 multiple types | cataract 17 multiple types | cataract 18 | cataract 19 multiple types | cataract 2 multiple types | cataract 20 multiple types | cataract 21 multiple types | cataract 22 multiple types | cataract 23 | cataract 24 | cataract 25 | cataract 26 multiple types | cataract 27 | cataract 29 | cataract 3 multiple types | cataract 30 | cataract 31 multiple types | cataract 32 multiple types | cataract 33 | cataract 34 multiple types | cataract 35 | cataract 37 | cataract 38 | cataract 39 multiple types | cataract 4 multiple types | cataract 40 | cataract 41 | cataract 42 | cataract 43 | cataract 44 | cataract 45 | cataract 46 juvenile-onset | cataract 5 multiple types | cataract 6 multiple types | cataract 7 | cataract 8 multiple types | cataract 9 multiple types
BMGC_DS22391,BMG_DS085047,"Structural developmental anomalies of the anterior segment of eye, unspecified | cornea plana"
BMGC_DS22392,BMG_DS085049,"Axenfeld-Rieger syndrome type 1 | Axenfeld-Rieger syndrome type 2 | Axenfeld-Rieger syndrome type 3 | Structural developmental anomalies of the anterior segment of eye, unspecified | anterior segment dysgenesis"
BMGC_DS22393,BMG_DS085052,Congenital vitreoretinal dysplasia | X-linked juvenile retinoschisis 1
BMGC_DS22394,BMG_DS085087,Transposition of the great arteries | dextro-looped transposition of the great arteries | multiple types of congenital heart defects 6
BMGC_DS22395,BMG_DS085090,Other specified structural developmental anomaly of heart or great vessels | right atrial isomerism
BMGC_DS22396,BMG_DS085094,"Congenital anomaly of atrial septum, unspecified | atrial heart septal defect 1 | atrial heart septal defect 2 | atrial heart septal defect 3 | atrial heart septal defect 4 | atrial heart septal defect 5 | atrial heart septal defect 6 | atrial heart septal defect 7 | atrial heart septal defect 8 | atrial heart septal defect 9"
BMGC_DS22397,BMG_DS085178,"Structural developmental anomalies of the respiratory system, unspecified | primary ciliary dyskinesia 1 | primary ciliary dyskinesia 10 | primary ciliary dyskinesia 11 | primary ciliary dyskinesia 12 | primary ciliary dyskinesia 13 | primary ciliary dyskinesia 14 | primary ciliary dyskinesia 15 | primary ciliary dyskinesia 16 | primary ciliary dyskinesia 17 | primary ciliary dyskinesia 18 | primary ciliary dyskinesia 19 | primary ciliary dyskinesia 2 | primary ciliary dyskinesia 20 | primary ciliary dyskinesia 21 | primary ciliary dyskinesia 22 | primary ciliary dyskinesia 23 | primary ciliary dyskinesia 24 | primary ciliary dyskinesia 25 | primary ciliary dyskinesia 26 | primary ciliary dyskinesia 27 | primary ciliary dyskinesia 28 | primary ciliary dyskinesia 29 | primary ciliary dyskinesia 3 | primary ciliary dyskinesia 30 | primary ciliary dyskinesia 32 | primary ciliary dyskinesia 33 | primary ciliary dyskinesia 4 | primary ciliary dyskinesia 5 | primary ciliary dyskinesia 6 | primary ciliary dyskinesia 7 | primary ciliary dyskinesia 8 | primary ciliary dyskinesia 9"
BMGC_DS22398,BMG_DS085181,isolated cleft palate
BMGC_DS22399,BMG_DS085233,Hirschsprung disease
BMGC_DS22400,BMG_DS085243,Biliary atresia
BMGC_DS22401,BMG_DS085264,Bicornuate uterus | hand-foot-genital syndrome
BMGC_DS22402,BMG_DS085308,Other specified renal agenesis or other reduction defects of kidney | oligomeganephronia | renal coloboma syndrome
BMGC_DS22403,BMG_DS085372,"Structural developmental anomalies primarily affecting one body system, unspecified | lethal congenital contracture syndrome"
BMGC_DS22404,BMG_DS085389,Split hand | split hand-foot malformation 1
BMGC_DS22405,BMG_DS085419,Congenital scoliosis due to congenital bony malformation | brachyolmia-amelogenesis imperfecta syndrome
BMGC_DS22406,BMG_DS085420,"Structural developmental anomalies of spine, unspecified | spondylocarpotarsal synostosis syndrome"
BMGC_DS22407,BMG_DS085428,short-rib thoracic dysplasia 10 with or without polydactyly
BMGC_DS22408,BMG_DS085429,Chondrodysplasia punctata | autosomal dominant chondrodysplasia punctata | rhizomelic chondrodysplasia punctata type 1
BMGC_DS22409,BMG_DS085432,Silverman-Handmaker type dyssegmental dysplasia | Spondyloepiphyseal or spondyloepimetaphyseal dysplasias | progressive pseudorheumatoid arthropathy of childhood
BMGC_DS22410,BMG_DS085435,"Osteogenesis imperfecta | osteogenesis imperfecta type 10 | osteogenesis imperfecta type 11 | osteogenesis imperfecta type 12 | osteogenesis imperfecta type 13 | osteogenesis imperfecta type 14 | osteogenesis imperfecta type 15 | osteogenesis imperfecta type 16 | osteogenesis imperfecta type 17 | osteogenesis imperfecta type 2 | osteogenesis imperfecta type 3 | osteogenesis imperfecta type 4 | osteogenesis imperfecta type 5 | osteogenesis imperfecta type 6 | osteogenesis imperfecta type 8 | osteogenesis imperfecta type 9 | osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures"
BMGC_DS22411,BMG_DS085451,Autosomal recessive congenital ichthyosis | autosomal recessive congenital ichthyosis 1 | autosomal recessive congenital ichthyosis 10 | autosomal recessive congenital ichthyosis 2 | autosomal recessive congenital ichthyosis 3 | autosomal recessive congenital ichthyosis 4A | autosomal recessive congenital ichthyosis 5 | autosomal recessive congenital ichthyosis 6 | autosomal recessive congenital ichthyosis 7 | autosomal recessive congenital ichthyosis 8 | autosomal recessive congenital ichthyosis 9
BMGC_DS22412,BMG_DS085453,Autosomal recessive congenital ichthyosis | autosomal recessive congenital ichthyosis 4B
BMGC_DS22413,BMG_DS085455,Epidermolysis bullosa simplex | epidermolysis bullosa simplex Dowling-Meara type | epidermolysis bullosa simplex Ogna type | epidermolysis bullosa simplex with muscular dystrophy
BMGC_DS22414,BMG_DS085456,Junctional epidermolysis bullosa | junctional epidermolysis bullosa Herlitz type
BMGC_DS22415,BMG_DS085457,Dystrophic epidermolysis bullosa | recessive dystrophic epidermolysis bullosa
BMGC_DS22416,BMG_DS085458,Epidermolysis bullosa | junctional epidermolysis bullosa non-Herlitz type | junctional epidermolysis bullosa with pyloric atresia
BMGC_DS22417,BMG_DS085460,Xeroderma pigmentosum | xeroderma pigmentosum group A | xeroderma pigmentosum group B | xeroderma pigmentosum group C | xeroderma pigmentosum group D | xeroderma pigmentosum group E | xeroderma pigmentosum group F | xeroderma pigmentosum group G
BMGC_DS22418,BMG_DS085483,"Multiple developmental anomalies or syndromes, unspecified | Noonan syndrome 1 | Noonan syndrome 10 | Noonan syndrome 7 | Noonan syndrome 8 | Noonan syndrome 9 | Seckel syndrome"
BMGC_DS22419,BMG_DS085485,"3MC syndrome | Armfield syndrome | Duane-radial ray syndrome | Multiple developmental anomalies or syndromes, unspecified | Stromme syndrome | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | deafness-intellectual disability, Martin-Probst type syndrome | endocrine-cerebro-osteodysplasia syndrome | syndromic X-linked intellectual disability 12 | syndromic X-linked intellectual disability Cabezas type | syndromic X-linked intellectual disability Claes-Jensen type | syndromic X-linked intellectual disability Nascimento type | syndromic X-linked intellectual disability Raymond type | syndromic X-linked intellectual disability Shashi type | syndromic X-linked intellectual disability Shrimpton type | syndromic X-linked intellectual disability Snyder type | syndromic X-linked intellectual disability Turner type"
BMGC_DS22420,BMG_DS085486,Bardet-Biedl syndrome 15 | Bardet-Biedl syndrome 16 | Bardet-Biedl syndrome 17 | Bardet-Biedl syndrome 18 | Bardet-Biedl syndrome 19 | Bardet-Biedl syndrome 5
BMGC_DS22421,BMG_DS085515,"3p deletion syndrome | Deletions of the autosomes, unspecified | chromosome 13q14 deletion syndrome | chromosome 16p12.2-p11.2 deletion syndrome | chromosome 17q12 deletion syndrome | chromosome 17q23.1-q23.2 deletion syndrome | chromosome 1q21.1 deletion syndrome | chromosome 1q41-q42 deletion syndrome | chromosome 8q21.11 deletion syndrome"
BMGC_DS22422,BMG_DS085588,Halitosis
BMGC_DS22423,BMG_DS085718,"Elevated blood glucose level, unspecified"
BMGC_DS22424,BMG_DS086495,"Unspecified injuries of spine or trunk, level unspecified"
BMGC_DS22425,BMG_DS086961,Allergic or hypersensitivity conditions of unspecified type
BMGC_DS22426,BMG_DS091971,Obesity
BMGC_DS22427,BMG_DS094697,Cystic fibrosis
BMGC_DS22428,BMG_DS095586,Psoriasis
BMGC_DS22429,BMG_DS118713,