Glioblastoma


Human Papillomavirus-Related Cervical Adenocarcinoma


Prostate Carcinoma


Chondrosarcoma


Lung Adenocarcinoma


Invasive Breast Carcinoma of No Special Type


Melanoma


Cutaneous Melanoma


Endometriosis


Childhood T Acute Lymphoblastic Leukemia


Precursor T-cell acute lymphoblastic leukemia


Astrocytoma


Osteosarcoma


Familial Adenomatous Polyposis


Familial adenomatous polyposis


LIG4 Syndrome


LIG4 syndrome


Human Papillomavirus-Related Cervical Squamous Cell Carcinoma


Squamous cell carcinoma of the cervix uteri


Ovarian Serous Adenocarcinoma


Embryonal Carcinoma


Embryonal carcinoma


Ovarian Mixed Germ Cell Tumor


Mixed germ cell tumor


Gastric Adenocarcinoma


Bladder Carcinoma


Myxoid Liposarcoma


Myxoid/round cell liposarcoma


Amyotrophic Lateral Sclerosis 1


Amyotrophic lateral sclerosis


EBV-Related Burkitt Lymphoma


Burkitt lymphoma


Severe Combined Immunodeficiency due to NHEJ1 Deficiency


Cernunnos-XLF deficiency


Fibrosarcoma


AIDS-Related Burkitt Lymphoma


HIV-associated cancer


Childhood B Acute Lymphoblastic Leukemia


Precursor B-cell acute lymphoblastic leukemia


Ovarian High Grade Serous Adenocarcinoma


DNA Ligase I Deficiency


Hypogammaglobulinemia


Clear Cell Renal Cell Carcinoma


Clear cell renal carcinoma


Hepatitis C Infection


Lung Lymphangioleiomyomatosis


Lymphangioleiomyomatosis


Ureter Urothelial Carcinoma


Upper tract urothelial carcinoma


B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1


B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)


Renal Cell Carcinoma


Renal cell carcinoma


Thyroid Gland Anaplastic Carcinoma


Anaplastic thyroid carcinoma


Lung Large Cell Carcinoma


Lung Small Cell Carcinoma


Small cell lung cancer


Cystic Fibrosis


Cystic fibrosis


Malignant Peripheral Nerve Sheath Tumor


Neurofibromatosis Type 1


Malignant peripheral nerve sheath tumor


Neurofibromatosis type 1


Uveal Melanoma


Uveal melanoma


Embryonal Rhabdomyosarcoma


Embryonal rhabdomyosarcoma


Submandibular Gland Squamous Cell Carcinoma


OBSOLETE: Squamous cell carcinoma of salivary glands


Amelanotic Melanoma


Skin Squamous Cell Carcinoma


Ewing Sarcoma


Skeletal Ewing sarcoma


Down Syndrome


Down syndrome


Childhood Acute Monocytic Leukemia


Acute monoblastic/monocytic leukemia


Werner Syndrome


Werner syndrome


Ovarian Carcinoma


Ovarian Endometrioid Adenocarcinoma


Endometrioid carcinoma of ovary


Diffuse Large B-Cell Lymphoma


Diffuse large B-cell lymphoma


Adult B Acute Lymphoblastic Leukemia


Lung Adenosquamous Carcinoma


Xeroderma Pigmentosum


Xeroderma pigmentosum


Lung Non-Small Cell Carcinoma


Pleural Epithelioid Mesothelioma


Pleural mesothelioma


Papillary Renal Cell Carcinoma


Papillary renal cell carcinoma


Uterine Carcinosarcoma


Carcinosarcoma of the corpus uteri


Ehlers-Danlos Syndrome, Type II


Classical Ehlers-Danlos syndrome


Progeria


Hutchinson-Gilford progeria syndrome


Mulibrey Nanism


Mulibrey nanism


Ataxia Telangiectasia Syndrome


Ataxia-telangiectasia


Rothmund-Thomson Syndrome


Rothmund-Thomson syndrome


Dyskeratosis Congenita


Dyskeratosis congenita


Atypical Werner syndrome


Alzheimer's Disease 3


Early-onset autosomal dominant Alzheimer disease


Alzheimer's Disease


Dystrophia Myotonica 1


Steinert myotonic dystrophy


Cockayne Syndrome Type A


Cockayne syndrome


Triploidy Syndrome


Triploidy syndrome


Bloom Syndrome


Bloom syndrome


Type 2 Diabetes Mellitus


Charcot-Marie-Tooth Disease


Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy


Xeroderma Pigmentosum, Complementation Group A


Mandibuloacral Dysplasia with Type A Lipodystrophy


Mandibuloacral dysplasia with type A lipodystrophy


Trisomy 18


Trisomy 18 syndrome


Turner Syndrome


Turner syndrome


Parkinson Disease


Neonatal Progeroid Syndrome


Wiedemann-Rautenstrauch syndrome


Alzheimer's Disease 4


Type 1 Diabetes Mellitus


Gerstmann-Straussler-Scheinker Disease


Gerstmann-Straussler-Scheinker syndrome


Trisomy 13


Trisomy 13 syndrome


Pick's Disease


Frontotemporal dementia


Gynecomastia


Transient Ischemic Attack


B Acute Lymphoblastic Leukemia with t(v;11q23.3); KMT2A Rearranged


B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)


Osteogenesis Imperfecta


Osteogenesis imperfecta


Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency


Vitamin B12-unresponsive methylmalonic acidemia


Childhood Acute Myeloid Leukemia


Acute myeloid leukemia


Adult Acute Myeloid Leukemia


Multiple Myeloma


Multiple myeloma


Marfan Syndrome


Marfan syndrome


Acanthosis Nigricans


Endometrial Adenocarcinoma


Colon Adenocarcinoma


Biphasic Synovial Sarcoma


Synovial sarcoma


Pancreatic Ductal Adenocarcinoma


Pyruvate Dehydrogenase Deficiency


Pyruvate dehydrogenase deficiency


Adult T Acute Lymphoblastic Leukemia


Colon Carcinoma


Autism Spectrum Disorder


Pervasive Developmental Disorder


Breast Adenocarcinoma


Hereditary Orotic Aciduria


Hereditary orotic aciduria


Duodenal Adenocarcinoma


Poorly Differentiated Thyroid Gland Carcinoma


Rare thyroid carcinoma


Lung Squamous Cell Carcinoma


Head and Neck Squamous Cell Carcinoma


Floor of Mouth Squamous Cell Carcinoma


Squamous cell carcinoma of the oral cavity


Primary Effusion Lymphoma


Primary effusion lymphoma


AIDS-Related Immunoblastic Lymphoma


Waldenstrom Macroglobulinemia


Waldenström macroglobulinemia


Fanconi Anemia, Complementation Group C


Fanconi anemia


Acute Myeloid Leukemia


Barrett Adenocarcinoma


Adenocarcinoma of the esophagus


Meningothelial Meningioma


Meningioma


Gestational Choriocarcinoma


Gestational choriocarcinoma


Renal Pelvis Urothelial Carcinoma


Ovarian Adenocarcinoma


Adenocarcinoma of ovary


Alveolar Ridge Squamous Cell Carcinoma


Ehlers-Danlos Syndrome


Ehlers-Danlos syndrome


Buccal Mucosa Squamous Cell Carcinoma


Tongue Squamous Cell Carcinoma


Squamous cell carcinoma of the oral tongue


Ovarian Small Cell Carcinoma, Hypercalcemic Type


Small cell carcinoma of the ovary


Burkitt Lymphoma


Ehlers-Danlos Syndrome, Type I


Pancreatic Serotonin-Producing Neuroendocrine Tumor


Serotonin-producing neuroendocrine tumor of pancreas


Hairy Cell Leukemia


Classic hairy cell leukemia


Benign Prostatic Hyperplasia


Bare Lymphocyte Syndrome Type 1


Immunodeficiency by defective expression of MHC class I


Chronic Myeloid Leukemia, BCR-ABL1 Positive


Chronic myeloid leukemia


Human Papillomavirus-Independent Cervical Squamous Cell Carcinoma


Colorectal Adenocarcinoma


Cri du Chat Syndrome


Monosomy 5p syndrome


Secondary Chondrosarcoma


Enchondromatosis


Nasopharyngeal Carcinoma


Nasopharyngeal carcinoma


Porokeratosis


Gingival Squamous Cell Carcinoma


Ovarian Serous Surface Papillary Adenocarcinoma


Breast Carcinoma


Tongue Adenosquamous Carcinoma


Vulvar Squamous Cell Carcinoma


Vulvar squamous cell carcinoma


Dedifferentiated Chondrosarcoma


Rectal Adenocarcinoma


Intrahepatic Cholangiocarcinoma


Cholangiocarcinoma


Polycystic Kidney Disease


Poikiloderma


Thyroid Gland Anaplastic Carcinoma, Squamous Cell Carcinoma Pattern


Thyroid Gland Follicular Carcinoma


Differentiated thyroid carcinoma


Thyroid Gland Papillary Carcinoma


Bronchogenic Carcinoma


Colorectal Carcinoma


Neuroblastoma


Galactosemia


Adrenal Gland Neuroblastoma


Childhood Acute Megakaryoblastic Leukemia


Acute megakaryoblastic leukemia


B-Cell Non-Hodgkin Lymphoma


B-cell non-Hodgkin lymphoma


Citrullinemia Type I


Citrullinemia type I


Oral Cavity Squamous Cell Carcinoma


Lactic Acidosis


Fatal infantile lactic acidosis with methylmalonic aciduria


Invasive Breast Lobular Carcinoma


Monophasic Synovial Sarcoma


Myeloid Leukemia Associated with Down Syndrome


Acute megakaryoblastic leukemia in children with Down syndrome


Lynch Syndrome


Lynch syndrome


Pancreatic Adenosquamous Carcinoma


Squamous cell carcinoma of pancreas


Esophageal Squamous Cell Carcinoma


Squamous cell carcinoma of the esophagus


Ehlers-Danlos Syndrome, Type IV


Vascular Ehlers-Danlos syndrome


Lung Carcinoma


Ovarian Mucinous Adenocarcinoma


Mucinous adenocarcinoma of ovary


Amyotrophic Lateral Sclerosis


Cockayne Syndrome Type B


Cockayne Syndrome


Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1


Werdnig-Hoffmann Disease


Proximal spinal muscular atrophy type 1


Huntington's Disease


Huntington disease


Childhood T Lymphoblastic Lymphoma


T-cell non-Hodgkin lymphoma


Gliosarcoma


Medulloblastoma, Non-WNT/Non-SHH, Group 3


Medulloblastoma


Stiff Skin Syndrome


Stiff skin syndrome


Ehlers-Danlos Syndrome, Type V


X-linked Ehlers-Danlos syndrome


Erythroleukemia


Acute erythroid leukemia


Pancreatic Adenocarcinoma


Medulloblastoma, SHH-Activated, TP53-Mutant


Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type


Anaplastic Astrocytoma


Anaplastic astrocytoma


Anaplastic Large Cell Lymphoma, ALK-Positive


ALK-positive anaplastic large cell lymphoma


Klinefelter Syndrome


Hepatosplenic T-Cell Lymphoma


Hepatosplenic T-cell lymphoma


Pharyngeal Squamous Cell Carcinoma


Gardner Syndrome


Gardner syndrome


Thoracic SMARCA4-Deficient Undifferentiated Tumor


Oral Epithelial Dysplasia


Cervical Carcinoma


Hepatoblastoma


Lymphangiectasia


Dyschromatosis Symmetrica Hereditaria


Dyschromatosis symmetrica hereditaria


Infectious Mononucleosis


Gastric Small Cell Neuroendocrine Carcinoma


Ehlers-Danlos Syndrome, Type III


Hypermobile Ehlers-Danlos syndrome


Ehlers-Danlos Syndrome, Type VII


Arthrochalasia Ehlers-Danlos syndrome


Acute Erythroid Leukemia


Endometrial Carcinoma


Breast Ductal Carcinoma


Ovarian Serous Cystadenocarcinoma


Cholangiocarcinoma


Adult Acute Monocytic Leukemia


Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive


Chronic Eosinophilic Leukemia, Not Otherwise Specified


Chronic eosinophilic leukemia


Lung Mucoepidermoid Carcinoma


Ovarian Clear Cell Adenocarcinoma


Clear cell adenocarcinoma of the ovary


Endometrioid Stromal Sarcoma


Endometrial stromal sarcoma


Fanconi Anemia, Complementation Group F


Fanconi Anemia, Complementation Group N


Fanconi Anemia, Complementation Group G


Myelodysplastic Syndrome


Meningioma


Hypopharyngeal Squamous Cell Carcinoma


Squamous cell carcinoma of the hypopharynx


Ataxia-Oculomotor Apraxia Type 1


Ataxia-oculomotor apraxia type 1


Anaplastic Large Cell Lymphoma, ALK-Negative


ALK-negative anaplastic large cell lymphoma


Adult Hepatocellular Carcinoma


Adult hepatocellular carcinoma


Morquio Syndrome


Mucopolysaccharidosis type 4


Pseudoxanthoma Elasticum


Follicular Lymphoma


Follicular lymphoma


Primitive Neuroectodermal Tumor


Rhabdoid Tumor of the Kidney


Rhabdoid tumor


Kidney Neoplasm


Gallbladder Carcinoma


Carcinoma of gallbladder and extrahepatic biliary tract


Adult Burkitt Leukemia


Vulvar Melanoma


Undifferentiated Pleomorphic Sarcoma


Undifferentiated pleomorphic sarcoma


Gastrointestinal Stromal Tumor


Gastrointestinal stromal tumor


Hereditary Glomangioma


Glomuvenous malformation


Acute Lymphoblastic Leukemia


Acute lymphoblastic leukemia


Phenylketonuria


Nephropathic Cystinosis


Infantile nephropathic cystinosis


Mitochondrial Myopathy


Mitochondrial myopathy


Hepatolenticular Degeneration


Wilson disease


Hurler Syndrome


Hurler syndrome


Hunter Syndrome


Mucopolysaccharidosis type 2


Cornelia De Lange Syndrome


Cornelia de Lange syndrome


46,XY Sex Reversal 1


46,XY complete gonadal dysgenesis


Propionic Acidemia


Propionic acidemia


Canavan Disease


Canavan disease


Lesch-Nyhan Syndrome


Lesch-Nyhan syndrome


Wolf-Hirschhorn Syndrome


Wolf-Hirschhorn syndrome


Tay-Sachs Disease


Tay-Sachs disease


Metachromatic Leukodystrophy


Metachromatic leukodystrophy


Trisomy 22


Total autosomal trisomy syndrome


Simpson Golabi Behmel Syndrome Type 1


Simpson-Golabi-Behmel syndrome


Fabry Disease


Fabry disease


Supernumerary Circular Chromosome


Niemann-Pick Disease, Type C1


Niemann-Pick disease type C


Glycogen Storage Disease Type III


Glycogen storage disease due to glycogen debranching enzyme deficiency


Niemann-Pick Disease, Type A


Infantile neurovisceral acid sphingomyelinase deficiency


Mucolipidosis Type IIIA


Mucolipidosis type III alpha/beta


Sly Syndrome


Mucopolysaccharidosis type 7


Mucopolysaccharidosis Type IIIB


Sanfilippo syndrome type B


49,XXXXY Syndrome


49,XXXXY syndrome


Niemann-Pick Disease


Sandhoff Disease


Sandhoff disease


Methylmalonic Aciduria, cblA Type


Vitamin B12-responsive methylmalonic acidemia type cblA


Menkes Disease


Menkes disease


Zellweger Syndrome


Zellweger syndrome


Cartilage Development Disorder


Glycogen Storage Disease Type II


Glycogen storage disease due to acid maltase deficiency


Fructose-1,6-Bisphosphatase Deficiency


Fructose-1,6-bisphosphatase deficiency


Hyperlipoproteinemia, Type IIa


Homozygous familial hypercholesterolemia


Ring Chromosome 13 Syndrome


Ring chromosome 13 syndrome


Tyrosinemia Type I


Tyrosinemia type 1


Fucosidosis


Maple Syrup Urine Disease


Maple syrup urine disease


Mucopolysaccharidosis Type IIIA


Sanfilippo syndrome type A


Glucose-6-Phosphate Dehydrogenase Deficiency


Class I glucose-6-phosphate dehydrogenase deficiency


Galactokinase Deficiency


Galactokinase deficiency


Isodicentric Chromosome


Homocystinuria


Homocystinuria due to cystathionine beta-synthase deficiency


Beckwith-Wiedemann Syndrome


Beckwith-Wiedemann syndrome


X-Linked Agammaglobulinemia


X-linked agammaglobulinemia


Fanconi Anemia


Fanconi Anemia, Complementation Group A


Gaucher Disease


Gaucher disease


Trisomy 8


Gout


Pyruvate Carboxylase Deficiency


Pyruvate carboxylase deficiency


Adenosine Deaminase Deficiency


Severe combined immunodeficiency due to adenosine deaminase deficiency


Cutis Laxa


Cutis laxa


Incontinentia Pigmenti


Incontinentia pigmenti


Mental Retardation


Hurler-Scheie Syndrome


Hurler-Scheie syndrome


Fibrodysplasia Ossificans Progressiva


Fibrodysplasia ossificans progressiva


Adenine Phosphoribosyltransferase Deficiency


Adenine phosphoribosyltransferase deficiency


Maroteaux-Lamy Syndrome


Mucopolysaccharidosis type 6


Argininosuccinic Aciduria


Argininosuccinic aciduria


Aspartylglycosaminuria


Aspartylglucosaminuria


Glycogen Storage Disease Type IV


Glycogen storage disease due to glycogen branching enzyme deficiency


Glycogen Storage Disease Type Ia


Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia


Glycogen Storage Disease Type IX


Glycogen storage disease due to phosphorylase kinase deficiency


Glycogen Storage Disease Type V


Glycogen storage disease due to muscle glycogen phosphorylase deficiency


Glycogen Storage Disease Type VI


Glycogen storage disease due to liver glycogen phosphorylase deficiency


Mucopolysaccharidosis Type IVA


Mucopolysaccharidosis type 4A


Familial Dysautonomia


Familial dysautonomia


Asthma


Alpha-Mannosidosis


Alpha-mannosidosis


Hypercholesterolemia, Familial, 4


Thanatophoric Dysplasia


Thanatophoric dysplasia


Peripheral Sensory Neuropathy


Rare peripheral neuropathy


Rhizomelic Chondrodysplasia Punctata


Rhizomelic chondrodysplasia punctata


Phosphoglycerate Kinase 1 Deficiency


Glycogen storage disease due to phosphoglycerate kinase 1 deficiency


Glycine Encephalopathy


Glycine encephalopathy


Sea-Blue Histiocyte Syndrome


Sea-blue histiocytosis


Wolman Disease


Wolman disease


Methylmalonic Aciduria, cblB Type


Vitamin B12-responsive methylmalonic acidemia type cblB


Methionine Adenosyltransferase Deficiency


Methionine adenosyltransferase I/III deficiency


Sporadic Retinoblastoma


Retinoblastoma


GM1 Gangliosidosis


GM1 gangliosidosis


Methylmalonic Acidemia


Methylmalonic acidemia without homocystinuria


Acute Intermittent Porphyria


Acute intermittent porphyria


Isovaleric Acidemia


Isovaleric acidemia


Scleromyxedema


Argininemia


Porphyria Cutanea Tarda


Porphyria cutanea tarda


Hereditary Coproporphyria


Hereditary coproporphyria


Erythropoietic Porphyria


Congenital erythropoietic porphyria


Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes


MODY


Retinoblastoma


Macular Dystrophy, Retinal, 1


North Carolina macular dystrophy


Xeroderma Pigmentosum, Complementation Group E


Mental Retardation, X-linked 1


X-linked non-syndromic intellectual disability


Maturity-Onset Diabetes of the Young


47,XYY Syndrome


47,XYY syndrome


Scheie Syndrome


Scheie syndrome


Ovarian Dermoid Cyst


Hereditary Persistence of Fetal Hemoglobin


Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome


Androgen Insensitivity Syndrome


Androgen insensitivity syndrome


Abetalipoproteinemia


Cystathioninuria


Hyperlipoproteinemia, Type IIb


Familial chylomicronemia syndrome


Schizophrenia


Anorexia Nervosa


Leigh Disease


Leigh syndrome


Developmental Delay


Nevoid Basal Cell Carcinoma Syndrome


Gorlin syndrome


Hypophosphatasia


I-Cell Disease


Mucolipidosis type II


Wiskott-Aldrich Syndrome


Wiskott-Aldrich syndrome


Sitosterolemia


Mucopolysaccharidosis Type IVB


Mucopolysaccharidosis type 4B


Wolfram Syndrome


Wolfram syndrome


Inosine Triphosphatase Deficiency


ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement


Tuberous Sclerosis 1


Tuberous sclerosis complex


Cartilage Hair Hypoplasia


Cartilage-hair hypoplasia


GM2-Gangliosidosis, AB Variant


GM2 gangliosidosis, AB variant


Oculocerebrorenal Syndrome


Oculocerebrorenal syndrome of Lowe


Duchenne Muscular Dystrophy


Duchenne muscular dystrophy


Gonadal Dysgenesis


Neuraminidase Deficiency


Sialidosis type 2


Xeroderma Pigmentosum, Complementation Group C


Campomelic Dysplasia


Campomelic dysplasia


Carnitine Palmitoyltransferase II Deficiency


Carnitine palmitoyltransferase II deficiency


Krabbe Disease


Krabbe disease


Ehlers-Danlos Syndrome, Type VI


Kyphoscoliotic Ehlers-Danlos syndrome


Neurofibroma


XX Male


46,XX testicular difference of sex development


Ataxia with Isolated Vitamin E Deficiency


Ataxia with vitamin E deficiency


Familial Amyloidosis


Hereditary ATTR amyloidosis


Mucolipidosis Type IV


Mucolipidosis type IV


Chediak-Higashi Syndrome


Chédiak-Higashi syndrome


Autosomal Dominant Torsion Dystonia 1


Early-onset generalized limb-onset dystonia


Alkaptonuria


Beta Thalassemia


Beta-thalassemia major


Adrenal Gland Hyperplasia III


Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


Autosomal Recessive Torsion Dystonia 2


Primary dystonia, DYT2 type


Winchester Syndrome


Multicentric osteolysis-nodulosis-arthropathy spectrum


Becker's Muscular Dystrophy


Becker muscular dystrophy


Variegate Porphyria


Variegate porphyria


Farber Lipogranulomatosis


Farber disease


Trisomy 9


Sickle Cell Disease


Sickle cell anemia


Coffin-Lowry Syndrome


Coffin-Lowry syndrome


Dyggve-Melchior-Clausen Syndrome


Dyggve-Melchior-Clausen disease


Galactosialidosis


Adrenoleukodystrophy


X-linked cerebral adrenoleukodystrophy


Methylmalonic Aciduria and Homocystinuria, cblC Type


Methylmalonic acidemia with homocystinuria, type cblC


Alpha-1 Antitrypsin Deficiency


Alpha-1-antitrypsin deficiency


Hemoglobin Lepore Syndrome


Hemoglobin Lepore-beta-thalassemia syndrome


Carnosinemia


Carnosinase deficiency


Turcot Syndrome


Turcot syndrome with polyposis


Tourette Syndrome


Hard Skin Syndrome Parana Type


Parana hard skin syndrome


Sialidosis type 1


Carbonic Anhydrase I Deficiency


Depression


Nasal Cavity Polyp


Acrodermatitis Enteropathica


Acrodermatitis enteropathica


Dubowitz Syndrome


Dubowitz syndrome


Epidermolysis Bullosa Dystrophica


Dystrophic epidermolysis bullosa


Eosinophilic Fasciitis


Eosinophilic fasciitis


Leri-Weill Dyschondrosteosis


Léri-Weill dyschondrosteosis


5 Alpha Steroid Reductase 2 Deficiency


46,XY difference of sex development due to 5-alpha-reductase 2 deficiency


22q11.2 Deletion Syndrome


22q11.2 deletion syndrome


Neuropathy, Hereditary Sensory and Autonomic, Type IV


Hereditary sensory and autonomic neuropathy type 4


Epidermodysplasia Verruciformis


Inherited epidermodysplasia verruciformis


Ring Chromosome 14 Syndrome


Ring chromosome 14 syndrome


Hereditary Hemorrhagic Telangiectasia


Hereditary hemorrhagic telangiectasia


X-Linked Ichthyosis


X-linked ichthyosis syndrome


Alpha Thalassemia


Alpha-thalassemia


Smith-Lemli-Opitz Syndrome


Smith-Lemli-Opitz syndrome


Congenital Sucrase-Isomaltase Deficiency


Congenital sucrase-isomaltase deficiency


Myopathy due to Myoadenylate Deaminase Deficiency


Adenosine monophosphate deaminase deficiency


WAGR Syndrome


WAGR syndrome


Tetralogy of Fallot


Pseudoachondroplasia


Glycogen Storage Disease Type VII


Glycogen storage disease due to muscle phosphofructokinase deficiency


Anetoderma


Primary anetoderma


Multiple Acyl-CoA Dehydrogenase Deficiency


Multiple acyl-CoA dehydrogenase deficiency


Fragile X Syndrome


Fragile X syndrome


Meckel-Gruber Syndrome


Meckel syndrome


Idiopathic Torsion Dystonia


Rare dystonia


Idiopathic Basal Ganglia Calcification 1


Bilateral striopallidodentate calcinosis


Multiple Sulfatase Deficiency Disease


Multiple sulfatase deficiency


Ichthyosis


Inherited ichthyosis


Mucolipidosis Type III Gamma


Mucolipidosis type III gamma


Niemann-Pick Disease, Type B


Chronic visceral acid sphingomyelinase deficiency


Carbamoyl-Phosphate Synthetase I Deficiency


Carbamoyl-phosphate synthetase 1 deficiency


Kidney Wilms Tumor


Nephroblastoma


Jeune Syndrome


Jeune syndrome


Holocarboxylase Synthetase Deficiency


Holocarboxylase synthetase deficiency


17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency


46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency


Spinocerebellar Ataxia Type 7


Spinocerebellar ataxia type 7


Trisomy 2


Trisomy 21


Hyperpipecolatemia


Pipecolic acidemia


Friedreich Ataxia


Friedreich ataxia


Glycogen Storage Disease Type Ib


Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib


Central Core Disease


Central core disease


Deletion 18p Syndrome


Monosomy 18p syndrome


Spinal Muscular Atrophy Type 2


Proximal spinal muscular atrophy type 2


Retinitis Pigmentosa


Retinitis pigmentosa


Leber Congenital Amaurosis


Leber congenital amaurosis


Usher Syndrome Type 1


Usher syndrome type 1


Hereditary Optic Atrophy


Hereditary optic neuropathy


Glutathione Synthetase Deficiency


Glutathione synthetase deficiency


Klippel-Feil Syndrome


Isolated Klippel-Feil syndrome


Refsum Disease


Refsum disease


Roberts-SC Phocomelia Syndrome


Roberts syndrome


Limb-Girdle Muscular Dystrophy Type 2A


Calpain-3-related limb-girdle muscular dystrophy R1


Tuberous Sclerosis 2


Hyperlipoproteinemia, Type I


Primary Carnitine Deficiency


Systemic primary carnitine deficiency


LEOPARD Syndrome


Noonan syndrome with multiple lentigines


Osteogenesis Imperfecta Type II


Osteogenesis imperfecta type 2


Kniest Dysplasia


Kniest dysplasia


Pterygium


Familial pterygium of the conjunctiva


Prader-Willi Syndrome


Prader-Willi syndrome


Spinocerebellar Ataxia


Hereditary ataxia


Kearns-Sayre Syndrome


Kearns-Sayre syndrome


Tyrosinemia Type II


Tyrosinemia type 2


Albright's Hereditary Osteodystrophy


Albright hereditary osteodystrophy


Trisomy 16


Schwartz-Jampel Syndrome


Schwartz-Jampel syndrome


Medium-Chain Acyl-CoA Dehydrogenase Deficiency


Medium chain acyl-CoA dehydrogenase deficiency


Sideroblastic Anemia


Sideroblastic anemia


Charcot-Marie-Tooth Neuropathy X Type 1


X-linked Charcot-Marie-Tooth disease type 1


Glucocorticoid Resistance


Generalized glucocorticoid resistance syndrome


Bannayan-Riley-Ruvalcaba Syndrome


Bannayan-Riley-Ruvalcaba syndrome


Bipolar Disorder


Glutaric Acidemia Type 1


Glutaryl-CoA dehydrogenase deficiency


Hartnup Disease


Hartnup disease


Erythropoietic Protoporphyria


Autosomal erythropoietic protoporphyria


Penta X Syndrome


Pentasomy X syndrome


Mucopolysaccharidosis Type IIID


Sanfilippo syndrome type D


Charcot-Marie-Tooth Disease Type 1A


Charcot-Marie-Tooth disease type 1A


Mucopolysaccharidosis Type IIIC


Sanfilippo syndrome type C


Osteogenesis Imperfecta Type I


Osteogenesis imperfecta type 1


Anxiety Disorder


Donohue Syndrome


Leprechaunism


Kartagener Syndrome


Primary Ciliary Dyskinesia 1


Primary ciliary dyskinesia, Kartagener type


Chromosome Fragile Site


Sialic Acid Storage Disease


Free sialic acid storage disease


Alagille Syndrome


Alagille syndrome


Manic Bipolar Affective Disorder


Bardet-Biedl Syndrome


Bardet-Biedl syndrome


Unipolar Depression


Miller-Dieker Syndrome


Miller-Dieker syndrome


Osteopetrosis with Renal Tubular Acidosis


Osteopetrosis with renal tubular acidosis


Very Long-Chain Acyl-CoA Dehydrogenase Deficiency


Very long chain acyl-CoA dehydrogenase deficiency


Spinocerebellar Ataxia Type 3


Spinocerebellar ataxia type 3


Schinzel-Giedion Midface-Retraction Syndrome


Schinzel-Giedion syndrome


Ring Chromosome 21 Syndrome


Ring chromosome 21 syndrome


Peroxisome Biogenesis Disorder 8A


Peroxisome biogenesis disorder


Analbuminemia


Congenital analbuminemia


Infantile Neuroaxonal Dystrophy


Infantile neuroaxonal dystrophy


Gyrate Atrophy


Gyrate atrophy of choroid and retina


Trichothiodystrophy 4, Nonphotosensitive


Trichothiodystrophy


Ring Chromosome 22 Syndrome


Ring chromosome 22 syndrome


Ectopia Lentis


Isolated ectopia lentis


X-Linked Centronuclear Myopathy


X-linked centronuclear myopathy


Aniridia


Isolated aniridia


Ornithine Carbamoyltransferase Deficiency Disease


Ornithine transcarbamylase deficiency


Cutaneous Malignant Melanoma 2


Familial melanoma


Spinocerebellar Ataxia Type 1


Spinocerebellar ataxia type 1


Choroideremia


Combined Lipase Deficiency


Familial lipase maturation factor 1 deficiency


Harlequin Ichthyosis


Harlequin ichthyosis


Letterer-Siwe Disease


Langerhans cell histiocytosis


Nijmegen Breakage Syndrome


Nijmegen breakage syndrome


Achromatopsia 2


Achromatopsia


Familial Hemophagocytic Lymphohistiocytosis


Familial hemophagocytic lymphohistiocytosis


Pelizaeus-Merzbacher Disease


Pelizaeus-Merzbacher disease


Hypomania


Holoprosencephaly


Hyperlysinemia


Peroxisome Biogenesis Disorder 7A


Trisomy 20


Wilms Tumor


Hydatidiform Mole


Wernicke-Korsakoff Syndrome


Chronic Granulomatous Disease


Chronic granulomatous disease


Psychosis


Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


Type II Achondrogenesis


Achondrogenesis type 2


Rett Syndrome


Rett syndrome


Triosephosphate Isomerase Deficiency


Triose phosphate-isomerase deficiency


Hereditary Spherocytosis


Hereditary spherocytosis


Perlman Syndrome


Perlman syndrome


HMG-CoA Lyase Deficiency


3-hydroxy-3-methylglutaric aciduria


Biotinidase Deficiency


Biotinidase deficiency


Cirrhosis


Hereditary Factor X Deficiency


Congenital factor X deficiency


Hemophilia B


Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1


ICF syndrome


Autosomal Dominant Polycystic Kidney Disease


Autosomal dominant polycystic kidney disease


Cystinosis


Ocular cystinosis


Multiple Endocrine Neoplasia Type 2


Multiple endocrine neoplasia type 2


Infantile Refsum Disease


Infantile Refsum disease


Peroxisome Biogenesis Disorder 7B


Congenital Adrenal Gland Hypoplasia


Adrenal hypoplasia congenita


Neuronal Ceroid Lipofuscinosis Type 3


OBSOLETE: Congenital neuronal ceroid lipofuscinosis


Multiple Sclerosis


Achondroplasia


Acyl-CoA Dehydrogenase, Short-Chain Deficiency


Short chain acyl-CoA dehydrogenase deficiency


Lafora Disease


Lafora disease


Usher Syndrome Type 2


Usher syndrome type 2


Crigler-Najjar Syndrome


Crigler-Najjar syndrome


Von Hippel Lindau Syndrome


Von Hippel-Lindau disease


Carboxypeptidase N Deficiency


Neurofibromatosis Type 2


Full NF2-related schwannomatosis


Neuronal Ceroid Lipofuscinosis Type 2


Xeroderma Pigmentosum, Complementation Group D


Neonatal Hemochromatosis


Neonatal hemochromatosis


Hereditary Factor II Deficiency


Congenital factor II deficiency


Junctional Epidermolysis Bullosa


Junctional epidermolysis bullosa


Hereditary Factor VII Deficiency


Congenital factor VII deficiency


Hereditary Multiple Exostoses


Multiple osteochondromas


Seckel Syndrome


Seckel syndrome


Trichorhinophalangeal Syndrome Type II


Trichorhinophalangeal syndrome type 2


Syndromic aniridia


Epidermolysis Bullosa Simplex


Autosomal dominant generalized epidermolysis bullosa simplex, severe form


Cowden Syndrome


Cowden syndrome


Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1


Walker-Warburg syndrome


Orofacial Cleft 1


Cleft lip/palate


Hyperglycerolemia


Isolated glycerol kinase deficiency


Autosomal Recessive Polycystic Kidney Disease


Autosomal recessive polycystic kidney disease


Carnitine-Acylcarnitine Translocase Deficiency


Carnitine-acylcarnitine translocase deficiency


Fraser Syndrome


Fraser syndrome


Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4


Congenital muscular dystrophy, Fukuyama type


Persistent Truncus Arteriosus


Common arterial trunk


Transposition of Great Vessels


Transposition of the great arteries


Reye Syndrome


Reye syndrome


Generalized Arterial Calcification of Infancy 1


Generalized arterial calcification of infancy


Bernard-Soulier Syndrome


Bernard-Soulier syndrome


Hypogonadotropic Hypogonadism with Anosmia


Kallmann syndrome


Greig Syndrome


Greig cephalopolysyndactyly syndrome


D-Glyceric Aciduria


D-glyceric aciduria


Sjogren-Larsson Syndrome


Sjögren-Larsson syndrome


Thyroid Gland Follicular Adenoma


Leber Hereditary Optic Atrophy


Leber hereditary optic neuropathy


Fryns Syndrome


Fryns syndrome


De Sanctis-Cacchione Syndrome


De Sanctis-Cacchione syndrome


Atransferrinemia


Congenital atransferrinemia


Uterine Corpus Leiomyoma


Marshall Syndrome


Marshall syndrome


Spinal and Bulbar Muscular Atrophy, X-linked 1


Kennedy disease


Renal Agenesis


Renal agenesis


Ellis-Van Creveld Syndrome


Ellis Van Creveld syndrome


Oculocutaneous Albinism Type 1A


Oculocutaneous albinism type 1A


Albinism


Oculocutaneous albinism


Fetal Akinesia Deformation Sequence


Fetal akinesia deformation sequence


Angelman Syndrome


Angelman syndrome


Weaver Syndrome


Weaver syndrome


Multiple Endocrine Neoplasia Type 2B


Multiple endocrine neoplasia type 2B


Multiple Endocrine Neoplasia Type 1


Multiple endocrine neoplasia type 1


Nevus of Ito


Spondyloepimetaphyseal Dysplasia, Sponastrime Type


SPONASTRIME dysplasia


Myasthenia Gravis


Myasthenia gravis


Spondyloperipheral Dysplasia


Spondyloperipheral dysplasia-short ulna syndrome


Myoclonic Epilepsy Associated with Ragged-Red Fibers


MERRF


Deletion 18q Syndrome


Monosomy 18q syndrome


Potocki-Shaffer Syndrome


Potocki-Shaffer syndrome


Mevalonate Kinase Deficiency


Mevalonic aciduria


Triple A Syndrome


Triple A syndrome


Proteus Syndrome


Proteus syndrome


Pyruvate dehydrogenase E1-alpha deficiency


Acute Hepatic Porphyria


Porphyria due to ALA dehydratase deficiency


Norrie Syndrome


Norrie disease


Type I Acrocephalosyndactyly


Apert syndrome


Pettigrew Syndrome


X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome


Hypoplastic Left Heart Syndrome


Hypoplastic left heart syndrome


Congenital Myasthenic Syndrome 5


Synaptic congenital myasthenic syndromes


Dandy-Walker Malformation


Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome


Congenital Bilateral Aplasia of the Vas Deferens


Congenital bilateral absence of vas deferens


46,XY Sex Reversal 4


Hermansky-Pudlak Syndrome 1


Hermansky-Pudlak syndrome due to BLOC-3 deficiency


Juvenile Myoclonic Epilepsy


Juvenile myoclonic epilepsy


Schimke Immunoosseous Dysplasia


Schimke immuno-osseous dysplasia


Rubinstein-Taybi Syndrome


Rubinstein-Taybi syndrome


Progressive Familial Intrahepatic Cholestasis


Progressive familial intrahepatic cholestasis


Lipoid Proteinosis of Urbach and Wiethe


Lipoid proteinosis


D-Bifunctional Protein Deficiency


Bifunctional enzyme deficiency


Neonatal Adrenoleukodystrophy


Neonatal adrenoleukodystrophy


Pancreatic Lipase Deficiency


Pancreatic triacylglycerol lipase deficiency


Trichothiodystrophy


Holt-Oram Syndrome


Holt-Oram syndrome


Adrenal Gland Hyperplasia II


Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency


Charcot-Marie-Tooth Disease Type 1B


Charcot-Marie-Tooth disease type 1B


5' 10' Methylenetetrahydrofolate Reductase Deficiency


Homocystinuria due to methylene tetrahydrofolate reductase deficiency


Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency


MASA Syndrome


MASA syndrome


Shprintzen-Goldberg Craniosynostosis Syndrome


Shprintzen-Goldberg syndrome


Williams Syndrome


Williams syndrome


Smith-Magenis Syndrome


Smith-Magenis syndrome


Denys-Drash Syndrome


Denys-Drash syndrome


Glucokinase-Associated Diabetes Mellitus


Hereditary Female Breast Carcinoma


Hereditary breast cancer


Glomus Tumor


Glomus tumor


Generalized Epilepsy


BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome


Hereditary breast and/or ovarian cancer syndrome


Dentatorubral-Pallidoluysian Atrophy


Dentatorubral pallidoluysian atrophy


Cleft Palate


Cleft palate


Nemaline Myopathy 2


Typical nemaline myopathy


Spina Bifida


Neural tube closure defect


Mosaic Variegated Aneuploidy Syndrome 1


Mosaic variegated aneuploidy syndrome


BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome


Morbid Obesity


Leiomyoma


HFE-Associated Hereditary Hemochromatosis


Symptomatic form of HFE-related hemochromatosis


Neuronal Intranuclear Inclusion Disease


Neuronal intranuclear inclusion disease


Short-Rib Thoracic Dysplasia 6 with or without Polydactyly


Short rib-polydactyly syndrome, Majewski type


Cleft Lip/Palate-Ectodermal Dysplasia Syndrome


Cleft lip/palate-ectodermal dysplasia syndrome


Hereditary Factor V Deficiency


Congenital factor V deficiency


Partial Epilepsy


Familial Mediterranean Fever


Familial Mediterranean fever


Parkinson Disease 4, Autosomal Dominant


Hereditary late-onset Parkinson disease


Anhidrotic Ectodermal Dysplasia 1


Hypohidrotic ectodermal dysplasia


Atrial Fibrillation


Familial atrial fibrillation


Childhood Absence Epilepsy


Childhood absence epilepsy


Progressive Supranuclear Palsy


Progressive supranuclear palsy


Deep Vein Thrombosis


Neuronal Ceroid Lipofuscinosis Type 1


Facioscapulohumeral Muscular Dystrophy 1


Facioscapulohumeral dystrophy


Hypoparathyroidism-Retardation-Dysmorphism Syndrome


Sanjad-Sakati syndrome


Bartsocas-Papas Syndrome


Bartsocas-Papas syndrome


Atrioventricular Septal Defect


Atrioventricular septal defect


Cystinuria


Peroxisome Biogenesis Disorder 1A


Prune Belly Syndrome


Prune belly syndrome


Congenital Nephrotic Syndrome


Genetic nephrotic syndrome


Fanconi Anemia, Complementation Group D2


Azoospermia


Chromosome Y microdeletion syndrome


Osteogenesis Imperfecta Type IV


Osteogenesis imperfecta type 4


Alexander Disease


Alexander disease


Emery-Dreifuss Muscular Dystrophy 1, X-Linked


X-linked Emery-Dreifuss muscular dystrophy


Isobutyryl-CoA Dehydrogenase Deficiency


Isobutyryl-CoA dehydrogenase deficiency


Butyryl-CoA Dehydrogenase Deficiency


2-methylbutyryl-CoA dehydrogenase deficiency


Mitochondrial Trifunctional Protein Deficiency


Mitochondrial trifunctional protein deficiency


Mucopolysaccharidosis Type IX


Hyaluronidase deficiency


Autosomal Recessive Congenital Ichthyosis 2


Congenital ichthyosiform erythroderma


47,XXX Syndrome


Trisomy X syndrome


Pantothenate Kinase-Associated Neurodegeneration


Atypical pantothenate kinase-associated neurodegeneration


Attention Deficit Hyperactivity Disorder


Hermansky-Pudlak Syndrome 6


Hermansky-Pudlak syndrome due to BLOC-2 deficiency


Hermansky-Pudlak Syndrome 2


Hermansky-Pudlak syndrome due to AP-3 deficiency


Frontonasal Dysplasia


Frontorhiny


Cleidocranial Dysplasia


Cleidocranial dysplasia


Niemann-Pick Disease, Type C2


Congenital Cerebellar Hypoplasia


Coenzyme Q10 deficiency


Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate


Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


Brown-Vialetto-Van Laere Syndrome 1


RFVT3-related riboflavin transporter deficiency


Peroxisomal Acyl-CoA Oxidase Deficiency


Peroxisomal acyl-CoA oxidase deficiency


Orofaciodigital Syndrome Type 6


Orofaciodigital syndrome type 6


Pseudotrisomy 13 Syndrome


Holoprosencephaly-postaxial polydactyly syndrome


Cherubism


Pearson Syndrome


Pearson syndrome


Mobius Syndrome


Moebius syndrome


Hypochondroplasia


Hyperphosphatemic Familial Tumoral Calcinosis


Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome


Hashimoto Thyroiditis


Vitiligo


Charcot-Marie-Tooth Disease Type 2D


Autosomal dominant Charcot-Marie-Tooth disease type 2D


Sotos Syndrome


Sotos syndrome


Leukoencephalopathy with Vanishing White Matter


Cree leukoencephalopathy


Lennox-Gastaut Syndrome


Lennox-Gastaut syndrome


Congenital Disorder of Glycosylation Type Ig


Deafness, Autosomal Recessive 49


Rare autosomal recessive non-syndromic sensorineural deafness type DFNB


Deafness, Autosomal Recessive 28


Langer Mesomelic Dysplasia


Langer mesomelic dysplasia


Fragile X Tremor/Ataxia Syndrome


Fragile X-associated tremor/ataxia syndrome


X-Linked Dominant Hypophosphatemic Rickets


X-linked hypophosphatemia


Molybdenum Cofactor Deficiency


Sulfite oxidase deficiency due to molybdenum cofactor deficiency


Nephrotic Syndrome - NPHS1 Associated


Congenital nephrotic syndrome, Finnish type


Peters-Plus Syndrome


Peters plus syndrome


Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2


Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type


Jackson-Weiss Syndrome


Jackson-Weiss syndrome


Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1


Adult-onset distal myopathy due to VCP mutation


Congenital Disorder of Glycosylation Type Ij


Congenital Disorder of Glycosylation Type Ia


Congenital Disorder of Glycosylation Type Ie


Congenital Disorder of Glycosylation Type Id


Congenital Disorder of Glycosylation Type Ic


Congenital Disorder of Glycosylation Type If


Mayer-Rokitansky-Kuster-Hauser Syndrome


Mayer-Rokitansky-Küster-Hauser syndrome


Otopalatodigital Syndrome Type 1


Otopalatodigital syndrome type 1


Mosaic Variegated Aneuploidy Syndrome 2


Cerebrooculofacioskeletal Syndrome


COFS syndrome


Gastric Signet Ring Cell Adenocarcinoma


Mantle Cell Lymphoma


Mantle cell lymphoma


Gastric Carcinoma


Gastric Tubular Adenocarcinoma


Extraskeletal Myxoid Chondrosarcoma


Extraskeletal myxoid chondrosarcoma


Pleural Biphasic Mesothelioma


Sezary Syndrome


Sézary syndrome


B Acute Lymphoblastic Leukemia with TCF3-HLF Rearrangement


B-lymphoblastic leukemia/lymphoma with t(17;19)


Epidermolysis Bullosa


Inherited epidermolysis bullosa


Diffuse Large B-Cell Lymphoma Activated B-Cell Type


Multilocular Cystic Renal Neoplasm of Low Malignant Potential


Multilocular cystic renal neoplasm of low malignant potential


Lung Giant Cell Carcinoma


Cervical Adenocarcinoma


Adenocarcinoma of the cervix uteri


Adrenal Cortical Carcinoma


Adrenocortical carcinoma


Breast Squamous Cell Carcinoma, Acantholytic Variant


Metastatic Breast Lobular Carcinoma


NUT Carcinoma


NUT midline carcinoma


Hemimegalencephaly


Adult T Lymphoblastic Lymphoma


Hodgkin Lymphoma


Hodgkin lymphoma


Vestibular Schwannoma


Vestibular schwannoma


Childhood Hepatocellular Carcinoma


Pediatric hepatocellular carcinoma


Hepatocellular Carcinoma


Hepatocellular carcinoma


Mature Gastric Teratoma


Extragonadal teratoma


Primary Cutaneous T-Cell Non-Hodgkin Lymphoma


Primary cutaneous T-cell lymphoma


Central Nervous System Lymphoma


Primary central nervous system lymphoma


Laryngeal Squamous Cell Carcinoma


Squamous cell carcinoma of the larynx


Mast Cell Leukemia


Mast cell leukemia


Vaginal Melanoma


Cervical Poorly Differentiated Adenosquamous Carcinoma


Glassy cell carcinoma of the cervix uteri


Cervical Melanoma


Spindle Cell Sarcoma


Neoplasm


Lymphoma


Histiocytic Sarcoma


Histiocytic sarcoma


Chronic Lymphadenitis


Dermatofibrosarcoma Protuberans


Dermatofibrosarcoma protuberans


Ovarian Teratoma


Synovial Sarcoma


Hyperplasia


Eosinophilic Granuloma


Dermatitis


Small Lymphocytic Lymphoma


Leiomyosarcoma


Oligodendroglioma


Malignancy in Giant Cell Tumor of Bone


Giant cell tumor of bone


Granuloma


Urethral Urothelial Carcinoma


Bladder Urothelial Carcinoma


Non-papillary transitional cell carcinoma of the bladder


Fibrous Dysplasia


Fibrous dysplasia of bone


Histiocytoma


Keratoacanthoma


Osteoid Osteoma


Paget Disease


Rhabdomyosarcoma


Epithelioid Sarcoma


Epithelioid sarcoma


Fanconi Anemia, Complementation Group B


Fanconi Anemia, Complementation Group D1


Krukenberg Tumor


Maxillary Sinus Squamous Cell Carcinoma


Squamous cell carcinoma of the nasal cavity and paranasal sinuses


Recurrent Bladder Carcinoma


Actinic Keratosis


Sacrococcygeal Teratoma


Sacrococcygeal teratoma


Mycosis Fungoides


Classic mycosis fungoides


Immunodeficiency with Hyper-IgM


X-linked hyper-IgM syndrome


Common Variable Immunodeficiency


Common variable immunodeficiency


Immunoglobulin A Deficiency 1


Recurrent infections associated with rare immunoglobulin isotypes deficiency


Selective Antibody Deficiency with Normal Immunoglobulins


Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells


X-linked Lymphoproliferative Syndrome 1


X-linked lymphoproliferative disease due to SAP deficiency


X-Linked Severe Combined Immunodeficiency


T-B+ severe combined immunodeficiency due to gamma chain deficiency


Intracranial Meningioma


Ovarian Squamous Cell Carcinoma


Cervical Adenosquamous Carcinoma


Cervical Squamous Cell Carcinoma, Not Otherwise Specified


Primary Central Chondrosarcoma


B Acute Lymphoblastic Leukemia


B-Cell Prolymphocytic Leukemia


B-cell prolymphocytic leukemia


Blast Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive


Primary Mediastinal Large B-Cell Lymphoma


Primary mediastinal large B-cell lymphoma


Childhood Acute Myeloid Leukemia with Maturation


Acute myeloblastic leukemia with maturation


Adult Acute Myeloid Leukemia with Minimal Differentiation


Acute myeloid leukemia with minimal differentiation


Acute Myelomonocytic Leukemia


Acute myelomonocytic leukemia


Ovarian Granulosa Cell Tumor


Malignant granulosa cell tumor of the ovary


Natural Killer Cell Lymphoblastic Leukemia/Lymphoma


T-Cell Prolymphocytic Leukemia


T-cell prolymphocytic leukemia


Hilar Cholangiocarcinoma


Opisthorchis Viverrini-Related Cholangiocarcinoma


Klatskin tumor


B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1


B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)


Combined Hepatocellular Carcinoma and Cholangiocarcinoma


Combined hepatocellular carcinoma and cholangiocarcinoma


Adrenal Gland Pheochromocytoma


Sporadic pheochromocytoma/secreting paraganglioma


Breast Inflammatory Carcinoma


AIDS-Related Kaposi Sarcoma


Kaposi sarcoma


Peripheral Primitive Neuroectodermal Tumor of Bone


Peripheral primitive neuroectodermal tumor


Anemia


Immunodeficiency with Hyper-IgM Type 2


Hyper-IgM syndrome type 2


Darier Disease


Darier disease


Idiopathic Pulmonary Fibrosis


Idiopathic pulmonary fibrosis


Epithelioid Hemangioendothelioma


Epithelioid hemangioendothelioma


Cecum Adenocarcinoma


Acute Myeloid Leukemia with Minimal Differentiation


Pleural Malignant Mesothelioma


Cutaneous Nodular Melanoma


Adult Acute Megakaryoblastic Leukemia


Ovarian Mucinous Cystadenocarcinoma


Retromolar Trigone Squamous Cell Carcinoma


Oropharyngeal Squamous Cell Carcinoma


Squamous cell carcinoma of the oropharynx


Chronic Lymphocytic Leukemia


B-cell chronic lymphocytic leukemia


Uterine Corpus Sarcoma


Sarcoma of the corpus uteri


Endometrial Adenosquamous Carcinoma


Gastric Adenosquamous Carcinoma


Acute Myeloid Leukemia with t(6;11)(q27;q23.3); MLLT4-KMT2A


Ovarian Serous Cystadenofibroma


Ovarian Serous Cystadenoma


Pleural Sarcomatoid Mesothelioma


Oral Leukoplakia


Thyroid Gland Medullary Carcinoma


Medullary thyroid carcinoma


Adult Acute Myeloid Leukemia with Maturation


Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM


Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)


Acute Biphenotypic Leukemia


Mixed phenotype acute leukemia


Askin Tumor


Childhood Acute Lymphoblastic Leukemia


Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1


B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)


Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA


Acute promyelocytic leukemia


Testicular Embryonal Carcinoma


Non-central nervous system-localized embryonal carcinoma


Bilateral Retinoblastoma


Unilateral Retinoblastoma


Minimally Invasive Lung Adenocarcinoma


Cervical Small Cell Neuroendocrine Carcinoma


High-grade neuroendocrine carcinoma of the cervix uteri


Lung Papillary Adenocarcinoma


Lung Sarcomatoid Carcinoma


Prostate Small Cell Neuroendocrine Carcinoma


Lung Neuroendocrine Tumor


Extraskeletal Ewing Sarcoma


Extraskeletal Ewing sarcoma


Testicular Yolk Sac Tumor


Yolk sac tumor


Multiple System Atrophy


Multiple system atrophy


Lewy Body Dementia


Parkinson Disease 8, Autosomal Dominant


Ischemic Stroke


Carotid Artery Dissection


Seizure Disorder


Parkinson Disease 2, Autosomal Recessive Juvenile


Young-onset Parkinson disease


Corticobasal Degeneration


Striatonigral Degeneration


Arteriovenous Malformation/Hemangioma


Subarachnoid Hemorrhage


Cerebral Hemorrhage


Intracranial Aneurysm


Arteriovenous Fistula


Progressive Muscular Atrophy


Progressive muscular atrophy


Primary Lateral Sclerosis


Primary lateral sclerosis


Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia


Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia


Frontotemporal Dementia


Behavioral variant of frontotemporal dementia


Brachial Amyotrophic Diplegia


Pseudobulbar Palsy


Progressive Bulbar Palsy


Bulbospinal muscular atrophy of adult


Myxofibrosarcoma


Ovarian Yolk Sac Tumor


Alveolar Rhabdomyosarcoma


Alveolar rhabdomyosarcoma


Esophageal Adenocarcinoma


Gastric Undifferentiated Carcinoma


Undifferentiated carcinoma of stomach


Adult T-Cell Leukemia/Lymphoma


Adult T-cell leukemia/lymphoma


Medulloblastoma, SHH-Activated, TP53-Wildtype


Ovarian Cystadenocarcinoma


Pyriform Fossa Squamous Cell Carcinoma


Head and Neck Basaloid Squamous Cell Carcinoma


Pancreatic Somatostatinoma


Somatostatinoma


Pilocytic Astrocytoma


Pilocytic astrocytoma


Ovarian Leiomyosarcoma


Thyroid Gland Sarcoma


Upper Gingival Squamous Cell Carcinoma


Salivary Gland Adenoid Cystic Carcinoma


Bladder Squamous Cell Carcinoma


Gastric Choriocarcinoma


Soft Tissue Fibrosarcoma


Soft tissue sarcoma


Liver Epithelial Neoplasm


Vulvar Leiomyosarcoma


Amelanotic Cutaneous Melanoma


Uterine Corpus Leiomyosarcoma


Leiomyosarcoma of the corpus uteri


Diffuse Intrinsic Pontine Glioma


Diffuse intrinsic pontine glioma


Breast Pleomorphic Carcinoma


Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1


Kidney Angiomyolipoma


Liposarcoma


Vulvar Carcinoma


Vulvar carcinoma


T Acute Lymphoblastic Leukemia


Testicular Seminoma


Testicular seminomatous germ cell tumor


Cervical Keratinizing Squamous Cell Carcinoma


Non-Hodgkin Lymphoma


Skin Basal Cell Carcinoma


Ampulla of Vater Adenocarcinoma


Carcinoma of the ampulla of Vater


Gallbladder Undifferentiated Carcinoma


Ampulla of Vater Adenosquamous Carcinoma


Endometrial Clear Cell Adenocarcinoma


Hereditary Thyroid Gland Medullary Carcinoma


Familial medullary thyroid carcinoma


Extrarenal Rhabdoid Tumor


Trichothiodystrophy 1, Photosensitive


Trichothiodystrophy 3, Photosensitive


Lymphoblastic Lymphoma


Non-Hodgkin lymphoma


Sacral Chordoma


Chordoma


Essential Thrombocythemia


Essential thrombocythemia


Tonsillar Squamous Cell Carcinoma


Renal Pelvis Carcinoma


Hereditary Leiomyomatosis and Renal Cell Carcinoma


Hereditary leiomyomatosis and renal cell cancer


Splenic Marginal Zone Lymphoma


Splenic marginal zone lymphoma


Grade 1 Follicular Lymphoma


Xeroderma Pigmentosum Variant Type


Xeroderma pigmentosum variant


Xeroderma Pigmentosum-Cockayne Syndrome Complex


Xeroderma pigmentosum-Cockayne syndrome complex


Xeroderma Pigmentosum, Complementation Group G


Xeroderma Pigmentosum, Complementation Group F


Xeroderma Pigmentosum, Complementation Group B


Schwannoma


brain


uterine cervix


bone tissue


corneal epithelium


blood


distal epiphysis of femur


lung


breast


lung primordium


skin of body


endometrium epithelium


femur


prostate gland


epithelium of bronchus


dermis


arm skin


breast epithelium


pancreas primordium


tracheobronchial epithelium


omentum


ovary


testis


ascitic fluid


stomach


milk


retroperitoneal lymph node


prostate epithelium


kidney


acetabular part of hip bone


lymph node


skin of prepuce of penis


skin epidermis


placenta


temporal lobe


urinary bladder


pleural effusion


ureter


bone marrow


frontal lobe


thyroid gland


cervical lymph node


soft palate


hypodermis


spleen


optic cup


uvea


muscle organ


submandibular gland


skin of leg


right frontal lobe


late embryo


cardiac ventricle


pleura


endometrium


skin of abdomen


skin of sacral region


skin of hip


skin of buttock


skin of chest


umbilical cord


amniotic fluid


upper leg skin


skin of calf


skin of shoulder


gingiva


gonad


pedal digit skin


skin of neck


iliac artery endothelium


umbilical vein


skin of scalp


skin of breast


interlobular stroma of mammary gland


adipose tissue


buttock


skin of pelvis


hindlimb stylopod


subcutaneous abdominal adipose tissue


left supraclavicular lymph node


left occipital lobe


colon


pigmented layer of retina


duodenum


epithelium of lens


parietal lobe


trophoblast


ascending colon


supraclavicular lymph node


falx cerebri


future brain


renal pelvis


blastocyst


alveolar ridge


buccal mucosa


tongue


pelvic region of trunk


inguinal part of abdomen


jaw skeleton


pancreas


costal cartilage


humerus


proximal epiphysis of tibia


umbilical cord blood


abdominal wall


small intestine


mammalian vulva


patella


hindlimb stylopod muscle


subserosa of fallopian tube


liver


inguinal lymph node


skin of forearm


skin of face


trachea


skull


epidural space


retroperitoneal space


adrenal gland


orbit of skull


thoracic cavity


mouth


peritoneal fluid


coronary artery


descending colon


sigmoid colon


celiac lymph node


external soft tissue zone


esophagus


pelvic wall


axillary lymph node


fundus of urinary bladder


granulosa cell layer


thoracic vertebra


inguinal region skin


lens of camera-type eye


pericardial fluid


cerebellum


posterior cranial fossa


heel skin


Brain, right parasagittal parietal region.


right parietal lobe


maxilla


rectum


ectocervical epithelium


bile duct


endometrium glandular epithelium


endocervical epithelium


mediastinal lymph node


thymus primordium


hypopharynx


gallbladder


epithelium of stomach


Brain, left fronto-parietal lobe.


myometrium


pericardium


cartilage tissue


conjunctiva


cornea


uterus


fallopian tube


skin of external genitalia


epididymis


nasal cavity


abdomen


amnion


spleen primordium


skin of iliac crest region


skin of umbilical area


immature eye


chorionic villus


skin of external ear


calcaneal tendon


future diaphragm


skeletal muscle tissue of diaphragm


axilla skin


heart


tunica albuginea


skeletal muscle tissue


tonsil


pyloric antrum


kidney epithelium


abdominal aorta


skin of back


future telencephalon


optic foramen


mouth floor


epithelium of conjunctiva


blood microvessel


cerebral cortex


vestibular nerve


secondary palate


left parietal lobe


femoral artery


limb bone


peritoneum


iliac artery smooth muscle tissue


cytotrophoblast


thoracic aorta smooth muscle tissue


iliac vein endothelium


iliac vein smooth muscle tissue


proximal tubule


neck


vagina


sublingual gland


germinal epithelium of ovary


pulmonary artery endothelium


epithelium of parotid gland


lung parenchyma


pulmonary vein


intestine


thymus


mesenteric lymph node


manual digit skin


bronchus


connective tissue


skin of trunk


future tongue


left temporal lobe


fused sacrum


muscle of leg


urethra


tibia


proximal epiphysis of humerus


vertebral column


pharynx


parotid gland


stroma of bone marrow


sciatic nerve


skin of manus


maxillary sinus


coccyx


saphenous vein smooth muscle tissue


aorta


cortex of kidney


mammary gland


larynx


pretracheal lymph node


adrenal medulla


Brain, right fronto-parietal lobe.


Right pararenal lymph node.


ileum


meningeal cluster


pectoralis major


Brain, fronto-temporal lobe.


right temporal lobe


Brain, temporo-occipital lobe.


Brain, right frontal parieto-occipital cortex.


Brain, right fronto-temporal lobe.


Brain, right parieto-occipital lobe.


Brain, left fronto-temporal lobe.


temporoparietal junction


lower lobe of right lung


caecum


ileocecal valve


retromolar triangle


common iliac lymph node


adrenal cortex


layer of synovial tissue


bone of pelvis


retina


cerebrospinal fluid


Brain, left occipital-parietal region.


right occipital lobe


Brain, occipito-medial region.


Brain, right occipital-parietal region.


Brain, left temporo-medial region.


Brain, left temporo-occipital lobe.


left frontal lobe


colonic mucosa


knee


nasopharynx


hindlimb zeugopod muscle


perigastric lymph node


brachialis muscle


ampulla of fallopian tube


innominate bone


oral cavity


islet of Langerhans


muscle of pelvis


pyloric lymph node


perineal muscle


urachus


presumptive retinal pigmented epithelium


presumptive hindbrain


anterior part of tongue


upper lobe of left lung


lower esophagus


thoracic lymph node


orbital region


renal fascia


obturator lymph node


eye


scapula


pons


chest wall


renal glomerulus


skin sebaceous gland


mandible


aorta smooth muscle tissue


thyroid primordium


ilium


fascia


extrahepatic bile duct


hepatopancreatic ampulla


ileocecal lymph node


dorsum


tonsillar fossa


supraglottic part of larynx


urinary bladder urothelium


glottis


vertebra


mucosa of vagina


fibula


eyeball of camera-type eye


prostate gland stroma


Brain, right temporo-occipital lobe.


arm


human papillomavirus 18


Betapolyomavirus macacae


human gammaherpesvirus 4


benzo[a]pyrene


ethyl methanesulfonate


Human adenovirus 5


human papillomavirus 68


acridine half-mustard dihydrochloride


Human papillomavirus 38


Human papillomavirus 16


asbestos


Ad12-SV40 hybrid virus


Human gammaherpesvirus 8


N-methyl-N'-nitro-N-nitrosoguanidine


Human T-cell leukemia virus type I


Hepatitis B virus


Ad5-SV40 hybrid virus


v-Myc


Ad-SV40 hybrid virus


Astatine-211 Alpha Radiation


Gamma Radiation


human papillomavirus 56


Kirsten murine sarcoma virus


human papillomavirus 30


Cesium-137 Gamma Radiation


Cobalt-60 Gamma Radiation


Human T-lymphotropic virus 2


human papillomavirus 45


4-nitroquinoline N-oxide


Human alphaherpesvirus 1


Human alphaherpesvirus 2


N-methyl-N-nitrosourea


corneal epithelial cell


fibroblast of lung


skin fibroblast


epithelial cell


T cell


bronchial epithelial cell


B cell


epithelial cell of tracheobronchial tree


luminal cell of lactiferous duct


epithelial cell of prostate


keratinocyte


mammary gland epithelial cell


fibroblast


retinoblast


kidney epithelial cell


fetal cardiomyocyte


foreskin fibroblast


endothelial cell of umbilical vein


stromal cell


retinal pigment epithelial cell


lens epithelial cell


embryonic stem cell


chondrocyte


epithelial cell of uterus


regulatory T cell


tracheal epithelial cell


smooth muscle cell of the coronary artery


colon epithelial cell


stromal cell of endometrium


hepatocyte


intestinal epithelial cell


foreskin melanocyte


epithelial cell of stomach


interstitial cell of Cajal


fibroblast of cardiac tissue


splenic fibroblast


fibroblast of the conjunctiva


fibroblast of gingiva


ovarian fibroblast


muscle fibroblast


skeletal muscle fibroblast


myoblast


aortic endothelial cell


endothelial cell


neuron


Schwann cell


mesenchymal cell


epithelial cell of esophagus


endothelial cell of artery


osteoblast


vascular associated smooth muscle cell


vein endothelial cell


epithelial cell of proximal tubule


mast cell


ovarian surface epithelial cell


pancreatic ductal cell


marrow fibroblast


hepatic stellate cell


myometrial cell


smooth muscle cell of the umbilical vein


myeloblast


chromaffin cell


basophil progenitor cell


mononuclear cell


myofibroblast cell


mesothelial cell


type B synovial cell


Mueller cell


monocyte


club cell


melanocyte


natural killer cell


thyroid follicular cell


gingival epithelial cell


pancreatic D cell


melanocyte of skin


stromal cell of bone marrow


glomerular endothelial cell


astrocyte


sebum secreting cell


parafollicular cell


mesenchymal stem cell of the bone marrow


mesenchymal stem cell of umbilical cord


urothelial cell


prostate stromal cell