Spongioblastoma multiforme


Glioblastoma


Human Papillomavirus-Associated Cervical Adenocarcinoma


Carcinoma of the Prostate


Chondrosarcoma


Adenocarcinoma of Lung


Invasive Ductal Carcinoma, Not Otherwise Specified


melanoma


Cutaneous Melanoma


Endometriosis


Childhood T Acute Lymphoblastic Leukemia


Precursor T-cell acute lymphoblastic leukemia


Astrocytoma


osteogenic sarcoma


Osteosarcoma


Hereditary Adenomatous Polyposis Coli


Familial adenomatous polyposis


LIG4 Syndrome


LIG4 syndrome


HPV-Associated Cervical Squamous Cell Carcinoma


Squamous cell carcinoma of the cervix uteri


Serous Adenocarcinoma of the Ovary


Carcinoma, Embryonal, Malignant


Embryonal carcinoma


Mixed Germ Cell Tumor of Ovary


Mixed germ cell tumor


Gastric Adenocarcinoma, NOS


Carcinoma of the Bladder


Myxoliposarcoma


Myxoid/round cell liposarcoma


Amyotrophic Lateral Sclerosis 1


Amyotrophic lateral sclerosis


EBV Related Burkitt's Lymphoma


Burkitt lymphoma


Cernunnos / XLF deficiency


Cernunnos-XLF deficiency


FIBROSARCOMA, MALIGNANT


Fibrosarcoma


AIDS-Associated Burkitt's Lymphoma


HIV-associated cancer


B Cell Pediatric ALL


Precursor B-cell acute lymphoblastic leukemia


High Grade Ovarian Serous Adenocarcinoma


DNA Ligase I Deficiency


hypogammaglobulinemia


Clear Cell Adenocarcinoma of Kidney


Clear cell renal carcinoma


hepatitis C


Lung Lymphangioleiomyomatosis


Lymphangioleiomyomatosis


Ureteral Transitional Cell Carcinoma


Upper tract urothelial carcinoma


B-Acute Lymphoblastic Leukemia with TCF3::PBX1 Fusion


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


CARCINOMA, RENAL CELL, MALIGNANT


Renal cell carcinoma


Anaplastic Carcinoma of the Thyroid


Anaplastic thyroid carcinoma


Lung Large Cell Carcinoma


Small Cell Neuroendocrine Carcinoma of Lung


Small cell lung cancer


Cystic Fibrosis


Cystic fibrosis


MPNST, NOS


neurofibromatosis type 1


Malignant peripheral nerve sheath tumor


Neurofibromatosis type 1


MELANOMA, UVEAL, MALIGNANT


Uveal melanoma


embryonal rhabdomyosarcoma


Embryonal rhabdomyosarcoma


Squamous Cell Carcinoma of Submandibular Gland


OBSOLETE: Squamous cell carcinoma of salivary glands


MELANOMA, AMELANOTIC, MALIGNANT


Squamous Cell Carcinoma of the Skin


Ewing's Sarcoma


Skeletal Ewing sarcoma


Down Syndrome


Down syndrome


M5b Pediatric Acute Differentiated Monocytic Leukemia


Acute monoblastic/monocytic leukemia


Werner's Syndrome


Werner syndrome


Ovarian Carcinoma


Endometrioid Adenocarcinoma of Ovary


Endometrioid carcinoma of ovary


Non-follicular (diffuse) lymphoma, unspecified, unspecified site


Diffuse large B-cell lymphoma


B-Cell Adult Acute Lymphoblastic Leukemia


Adenosquamous Lung Carcinoma


Kaposi Disease


Xeroderma pigmentosum


non-small cell lung cancer


Pleural Epithelioid Mesothelioma


Pleural mesothelioma


Papillary Renal Cell Cancer


Papillary renal cell carcinoma


Uterine Malignant Mixed Mesodermal (Mullerian) Tumor


Carcinosarcoma of the corpus uteri


Ehlers-Danlos Syndrome, Type II


Classical Ehlers-Danlos syndrome


Hutchinson-Gilford Disease


Hutchinson-Gilford progeria syndrome


Perheentupa Syndrome


Mulibrey nanism


Louis-Bar Syndrome


Ataxia-telangiectasia


Rothmund-Thomson Syndrome


Rothmund-Thomson syndrome


DKC


Dyskeratosis congenita


Atypical Werner syndrome


Familial Alzheimer Disease, Type 3


Early-onset autosomal dominant Alzheimer disease


Alzheimer's disease, unspecified


Steinert Myotonic Dystrophy Syndrome


Steinert myotonic dystrophy


Cockayne Syndrome Type A


Cockayne syndrome


Triploid Syndrome


Triploidy syndrome


Bloom-Torre-Machacek syndrome


Bloom syndrome


Type II Diabetes Mellitus


Hereditary Sensorimotor Neuropathy


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


Xeroderma Pigmentosum Group A


MADA


Mandibuloacral dysplasia with type A lipodystrophy


Trisomy 18


Trisomy 18 syndrome


Turner syndrome


Parkinson Disease


Neonatal Progeroid Syndrome


Wiedemann-Rautenstrauch syndrome


Familial Alzheimer's Disease, Type 4


Type 1 Diabetes Mellitus


Gerstmann-Straussler-Scheinker Disease


Gerstmann-Straussler-Scheinker syndrome


Trisomy 13 syndrome


Pick Disease


Frontotemporal dementia


Gynecomastia


Transient ischemic attack


B-Cell Acute Lymphoblastic Leukemia with t(v;11q23.3); MLL Rearranged


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


Osteogenesis imperfecta


Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency


Vitamin B12-unresponsive methylmalonic acidemia


Pediatric Acute Myeloblastic Leukemia


Acute myeloid leukemia


Adult AML


Plasma Cell Myeloma/Multiple Myeloma


Multiple myeloma


Marfan syndrome


Acanthosis Nigricans


Endometrial Adenocarcinoma


Colonic Adenocarcinoma


Biphasic Sarcoma of the Synovium


Synovial sarcoma


Ductal Adenocarcinoma of Pancreas


Pyruvate Dehydrogenase Deficiency


Pyruvate dehydrogenase deficiency


Adult Precursor T-Lymphoblastic Leukemia


Colon Cancer


Pervasive Developmental Disorders


Pervasive Developmental Disorder


Mammary adenocarcinoma


Hereditary Orotic Aciduria


Hereditary orotic aciduria


Duodenal Adenocarcinoma


Poorly Differentiated Thyroid Gland Carcinoma


Rare thyroid carcinoma


Squamous Cell Lung Carcinoma


Squamous Cell Carcinoma of the Head and Neck


SCC of the Floor of Mouth


Squamous cell carcinoma of the oral cavity


primary effusion lymphoma


Primary effusion lymphoma


AIDS Associated Immunoblastic Lymphoma


Waldenstrom Macroglobulinemia


Waldenström macroglobulinemia


Fanconi Anemia, Complementation Group C


Fanconi anemia


Acute Myelogenous Leukemia


Barrett Adenocarcinoma


Adenocarcinoma of the esophagus


Meningothelial Meningioma


Meningioma


Gestational Choriocarcinoma


Gestational choriocarcinoma


Transitional Cell Carcinoma of Renal Pelvis


Adenocarcinoma of the Ovary


Adenocarcinoma of ovary


Alveolar Ridge Squamous Cell Carcinoma


Ehlers-Danlos Syndrome


Ehlers-Danlos syndrome


SCC of Buccal Mucosa


SCC of Tongue


Squamous cell carcinoma of the oral tongue


Ovarian Small Cell Carcinoma, Hypercalcemic Type


Small cell carcinoma of the ovary


Small Non-Cleaved Cell Lymphoma, Burkitt's Type


Ehlers-Danlos Syndrome, Type I


Pancreatic Serotonin-Producing Neuroendocrine Tumor


Serotonin-producing neuroendocrine tumor of pancreas


Leukemic reticuloendotheliosis


Classic hairy cell leukemia


Prostatic Hyperplasia


Bare Lymphocyte Syndrome Type 1


Immunodeficiency by defective expression of MHC class I


Chronic Myelogenous Leukemia


Chronic myeloid leukemia


HPV-Independent Cervical Squamous Cell Carcinoma


Large Intestine Adenocarcinoma


Cri-du-Chat Syndrome


Monosomy 5p syndrome


Secondary Chondrosarcoma


Enchondromatosis


Nasopharyngeal Throat Cancer


Nasopharyngeal carcinoma


Porokeratosis


Gingival SCC


Ovarian Serous Surface Papillary Adenocarcinoma


Cancer of Breast


Tongue Adenosquamous Carcinoma


Squamous Cell Carcinoma of Vulva


Vulvar squamous cell carcinoma


Dedifferentiated Chondrosarcoma


Rectal Adenocarcinoma


Intrahepatic bile duct carcinoma


Cholangiocarcinoma


Polycystic Kidney Disease


Poikiloderma


Thyroid Gland Squamous Cell Carcinoma


Well-differentiated Follicular Carcinoma


Differentiated thyroid carcinoma


Papillary Carcinoma of Thyroid


Bronchus Cancer


Large Intestine Cancer


Neuroblastoma (Schwannian Stroma-poor)


Neuroblastoma


Galactosemia


Neuroblastoma of the Adrenal Gland


Childhood Acute M7 Leukemia


Acute megakaryoblastic leukemia


B-Cell Non-Hodgkin Lymphoma


B-cell non-Hodgkin lymphoma


Argininosuccinate Synthetase Deficiency


Citrullinemia type I


Squamous Cell Carcinoma of the Mouth


Lactic Acidosis


Fatal infantile lactic acidosis with methylmalonic aciduria


Invasive Breast Lobular Carcinoma


Monophasic Sarcoma of Synovium


AML Occurring in Children with Down Syndrome


Acute megakaryoblastic leukemia in children with Down syndrome


Hereditary Colorectal Endometrial Cancer Syndrome


Lynch syndrome


Adenosquamous carcinoma


Squamous cell carcinoma of pancreas


Esophageal Squamous Cell Carcinoma, Not Otherwise Specified


Squamous cell carcinoma of the esophagus


Ehlers-Danlos Syndrome, Type IV


Vascular Ehlers-Danlos syndrome


Lung cancer, NOS


Mucinous Carcinoma of the Ovary


Mucinous adenocarcinoma of ovary


Lou Gehrig Disease


Cockayne Syndrome Type B


Cockayne syndrome


Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1


Severe Infantile Spinal Muscular Atrophy


Proximal spinal muscular atrophy type 1


HD


Huntington disease


Childhood T-Lymphoblastic Lymphoma


T-cell non-Hodgkin lymphoma


gliosarcoma


Gliosarcoma


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


Medulloblastoma


MEDULLOBLASTOMA, MALIGNANT


Stiff Skin Syndrome


Stiff skin syndrome


Ehlers-Danlos Syndrome, Type V


X-linked Ehlers-Danlos syndrome


Erythroleukemia


Acute erythroid leukemia


Adenocarcinoma of Pancreas


Medulloblastoma, SHH-activated and TP53-mutant


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


Grade 3 Astrocytic Neoplasm


Anaplastic astrocytoma


ALCL, ALK+


ALK-positive anaplastic large cell lymphoma


XXY Syndrome


Hepatosplenic gamma-delta cell lymphoma


Hepatosplenic T-cell lymphoma


Pharyngeal squam. cell carcinoma


Gardner's Syndrome


Gardner syndrome


SMARCA4-Deficient Thoracic Sarcomatoid Tumor


OED


Cancer of Cervix


Pediatric Hepatoblastoma


Hepatoblastoma


LYMPHANGIECTASIS


RAD


Dyschromatosis symmetrica hereditaria


Infectious Mononucleosis


Small Cell Carcinoma of Stomach


Ehlers-Danlos Syndrome, Type III


Hypermobile Ehlers-Danlos syndrome


Ehlers-Danlos Syndrome, Type VII


Arthrochalasia Ehlers-Danlos syndrome


Acute Erythroid Leukemia


CARCINOMA, ENDOMETRIAL, MALIGNANT


Breast Ductal Carcinoma


Ovarian Serous Cystadenocarcinoma


Cholangiocellular Carcinoma


Acute Monocytic Leukemia


Childhood Chronic Myelogenous Leukemia, BCR::ABL1 Positive


Chronic eosinophilic leukemia/hypereosinophilic syndrome


Chronic eosinophilic leukemia


Lung Mucoepidermoid Cancer


Ovarian Clear Cell Adenocarcinoma


Clear cell adenocarcinoma of the ovary


Endometrial stromal sarcoma


Fanconi Anemia, Complementation Group F


Fanconi Anemia, Complementation Group N


Fanconi Anemia, Complementation Group G


Myelodysplastic Syndrome/Neoplasm


meningioma


Hypopharyngeal Throat Squamous Cell Cancer


Squamous cell carcinoma of the hypopharynx


Ataxia-oculomotor apraxia type 1


Anaplastic large cell lymphoma, ALK negative


ALK-negative anaplastic large cell lymphoma


Adult Primary Hepatocellular Carcinoma


Adult hepatocellular carcinoma


Mucopolysaccharidosis IV


Mucopolysaccharidosis type 4


Pseudoxanthoma Elasticum


Follicle Center Lymphoma


Follicular lymphoma


PNET


Rhabdoid Tumor of the Kidney (RTK)


Rhabdoid tumor


Renal Neoplasm


Cancer of the Gallbladder


Carcinoma of gallbladder and extrahepatic biliary tract


L3 Adult Acute Lymphoblastic Leukemia


Vulvar Melanoma


FIBROSARCOMA, PLEOMORPHIC, MALIGNANT


Undifferentiated pleomorphic sarcoma


Gastrointestinal Stromal Neoplasm


Gastrointestinal stromal tumor


Familial Glomangioma


Glomuvenous malformation


Acute lymphoblastic leukemia


phenylketonuria


Phenylketonuria


Nephropathic Cystinosis


Infantile nephropathic cystinosis


Mitochondrial Myopathy


Mitochondrial myopathy


Hepatolenticular Degeneration


Wilson disease


Hurler Syndrome


Hurler syndrome


Mucopolysaccharidosis Type II


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


Alpha-Galactosidase A Deficiency


Fabry disease


Supernumerary Circular Chromosome


Type C1 Niemann-Pick Disease


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


Mucopolysaccharidosis Type VII


Mucopolysaccharidosis type 7


MPS III B


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 Kinky Hair Syndrome


Menkes disease


Zellweger Syndrome


Zellweger syndrome


Chondrodystrophy


Glycogen Storage Disease Type II


Glycogen storage disease due to acid maltase deficiency


Fructose-1,6-Bisphosphatase Deficiency


Fructose-1,6-bisphosphatase deficiency


Type IIa Hyperlipidemia


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


G6PD Deficiency


Class I glucose-6-phosphate dehydrogenase deficiency


GALK Deficiency


Galactokinase deficiency


Isodicentric Chromosome


Homocystinuria


Homocystinuria due to cystathionine beta-synthase deficiency


Beckwith-Wiedemann


Beckwith-Wiedemann syndrome


Bruton's X-Linked Agammaglobulinemia


X-linked agammaglobulinemia


Fanconi's Anemia


Fanconi Anemia, Complementation Group A


Gaucher Disease


Gaucher disease


Trisomy 8


Gout


Pyruvate Carboxylase Deficiency Disease


Pyruvate carboxylase deficiency


Adenosine Deaminase Severe Combined Immunodeficiency


Severe combined immunodeficiency due to adenosine deaminase deficiency


Cutis Laxa


Cutis laxa


Incontinentia Pigmenti


Incontinentia pigmenti


Mental Retardation


MPS I H-S


Hurler-Scheie syndrome


Fibrodysplasia Ossificans Progressiva


Fibrodysplasia ossificans progressiva


Adenine Phosphoribosyltransferase Deficiency


Adenine phosphoribosyltransferase deficiency


Mucopolysaccharidosis VI


Mucopolysaccharidosis type 6


Argininosuccinate Lyase Deficiency


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


MPS IV A


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 Dwarfism


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


Isolated Persistent Hypermethioninemia


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


Hyperargininemia


Argininemia


Porphyria Cutanea Tarda


Porphyria cutanea tarda


Hereditary Coproporphyria


Hereditary coproporphyria


Erythropoietic Porphyria


Congenital erythropoietic porphyria


Maturity-Onset Diabetes of the Young, Type 1


MODY


Retinoblastoma


Retinal Macular Dystrophy-1


North Carolina macular dystrophy


Xeroderma Pigmentosum, Complementation Group E


Nonsyndromic X-Linked Cognitive Disability


X-linked non-syndromic intellectual disability


Maturity-Onset Diabetes of the Young


XYY Syndrome


47,XYY syndrome


MPS I S


Scheie syndrome


Dermoid Cyst of the Ovary


Hereditary Persistence of Fetal Hemoglobin


Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome


Testicular Feminization Syndrome


Androgen insensitivity syndrome


Abetalipoproteinemia


Cystathioninuria


Hyperlipoproteinemia, Type IIb


Familial chylomicronemia syndrome


Schizophrenia


Anorexia nervosa


Leigh's Disease


Leigh syndrome


Delayed developmental milestones


Basal Cell Nevus Syndrome


Gorlin syndrome


Hypophosphatasia


Mucolipidosis Type II


Mucolipidosis type II


Aldrich syndrome


Wiskott-Aldrich syndrome


Sitosterolemia


MPS IV B


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


Mucolipidosis I


Sialidosis type 2


XP-C


CMD


Campomelic dysplasia


CPT II Deficiency


Carnitine palmitoyltransferase II deficiency


Krabbe Disease


Krabbe disease


Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1


Kyphoscoliotic Ehlers-Danlos syndrome


Neurofibroma (WHO Grade I)


Neurofibroma


XX Male


46,XX testicular difference of sex development


AVED


Ataxia with vitamin E deficiency


Amyloidosis, Familial


Hereditary ATTR amyloidosis


Mucolipidosis IV


Mucolipidosis type IV


Chediak-Higashi Syndrome


Chédiak-Higashi syndrome


Autosomal Dominant Torsion Dystonia 1


Early-onset generalized limb-onset dystonia


Alkaptonuria


Thalassemia Major


Beta-thalassemia major


Congenital Adrenal Hyperplasia 1


Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


Autosomal Recessive Torsion Dystonia 2


Primary dystonia, DYT2 type


WNCHRS


Multicentric osteolysis-nodulosis-arthropathy spectrum


Becker's Muscular Dystrophy


Becker muscular dystrophy


Variegate Porphyria


Variegate porphyria


Farber Lipogranulomatosis


Farber disease


Trisomy 9


Sickle-cell Disorders


Sickle cell anemia


Coffin-Lowry Syndrome


Coffin-Lowry syndrome


DMC


Dyggve-Melchior-Clausen disease


Goldberg Syndrome


Galactosialidosis


Schilder Disease


X-linked cerebral adrenoleukodystrophy


Methylmalonic Aciduria and Homocystinuria, cblC Type


Methylmalonic acidemia with homocystinuria, type cblC


Alpha 1-Antitrypsin Disease


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 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-Reductase Deficiency


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


FACES


22q11.2 deletion syndrome


Hereditary Sensory and Autonomic Neuropathy Type IV


Hereditary sensory and autonomic neuropathy type 4


Epidermodysplasia Verruciformis


Inherited epidermodysplasia verruciformis


Ring Chromosome 14 Syndrome


Ring chromosome 14 syndrome


Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler


Hereditary hemorrhagic telangiectasia


Ichthyosis, X-linked


X-linked ichthyosis syndrome


Alpha Thalassemia


Alpha-thalassemia


Smith-Lemli-Opitz Syndrome


Smith-Lemli-Opitz syndrome


Congenital Sucrase-Isomaltase Deficiency


Congenital sucrase-isomaltase deficiency


MMDD


Adenosine monophosphate deaminase deficiency


Wagr Syndrome


WAGR syndrome


TETRALOGY OF FALLOT


Tetralogy of Fallot


Pseudoachondroplasia


Tarui Disease


Glycogen storage disease due to muscle phosphofructokinase deficiency


Anetoderma


Primary anetoderma


Glutaric Aciduria, Type 2


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 III Gamma


Mucolipidosis type III gamma


Niemann-Pick Disease, Type B


Chronic visceral acid sphingomyelinase deficiency


Carbamoyl Phosphate Synthetase Deficiency


Carbamoyl-phosphate synthetase 1 deficiency


Embryonal Nephroma


Nephroblastoma


Asphyxiating Thoracic Dystrophy


Jeune syndrome


Neonatal Multiple Carboxylase Deficiency


Holocarboxylase synthetase deficiency


17 beta HSD3 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


Pipecolic Acidemia


Pipecolic acidemia


Friedreich's Ataxia


Friedreich ataxia


Glycogen Storage Disease Type I non-a


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


Central Core Myopathy


Central core disease


Deletion 18p Syndrome


Monosomy 18p syndrome


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


Familial Essential Hyperlipemia


Renal Carnitine Transport Defect


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-Labhart Syndrome


Prader-Willi syndrome


Spinocerebellar Ataxia


Hereditary ataxia


Kearns-Sayre Syndrome


Kearns-Sayre syndrome


Tyrosinemia Type II


Tyrosinemia type 2


Pseudohypoparathyroidism, Type IA


Albright hereditary osteodystrophy


Trisomy 16


Schwartz-Jampel Syndrome


Schwartz-Jampel syndrome


Acyl-CoA Dehydrogenase, Medium-Chain Deficiency


Medium chain acyl-CoA dehydrogenase deficiency


Sideroblastic Anemia


Sideroblastic anemia


X-linked Charcot-Marie-Tooth disease type 1


Glucocorticoid Resistance


Generalized glucocorticoid resistance syndrome


Bannayan Syndrome


Bannayan-Riley-Ruvalcaba syndrome


Manic Depressive Disorder


Glutaric Acidemia Type 1


Glutaryl-CoA dehydrogenase deficiency


Hartnup Disease


Hartnup disease


Erythropoietic Protoporphyria


Autosomal erythropoietic protoporphyria


XXXXX Syndrome


Pentasomy X syndrome


Sanfilippo D


Sanfilippo syndrome type D


Charcot-Marie-Tooth Disease Type 1A


Charcot-Marie-Tooth disease type 1A


MPS III C


Sanfilippo syndrome type C


Osteogenesis Imperfecta Type I


Osteogenesis imperfecta type 1


Anxiety Disorder


Leprechaunism


Kartagener Syndrome


Primary Ciliary Dyskinesia 1


Primary ciliary dyskinesia, Kartagener type


Fragile Site


Sialic Acid Storage Disease


Free sialic acid storage disease


Alagille Syndrome


Alagille syndrome


Manic Bipolar Affective Disorder


Laurence-Moon-Bardet-Biedl Syndrome


Bardet-Biedl syndrome


Major Depression


Miller-Dieker Syndrome


Miller-Dieker syndrome


Osteopetrosis with Renal Tubular Acidosis


Osteopetrosis with renal tubular acidosis


VLCAD


Very long chain acyl-CoA dehydrogenase deficiency


Machado-Joseph Disease


Spinocerebellar ataxia type 3


Schinzel-Giedion Syndrome


Schinzel-Giedion syndrome


Ring Chromosome 21 Syndrome


Ring chromosome 21 syndrome


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


MTM


X-linked centronuclear myopathy


Aniridia


Isolated aniridia


Ornithine Carbamoyltransferase Deficiency Disease


Ornithine transcarbamylase deficiency


Familial melanoma


Spinocerebellar ataxia type 1


Progressive Choroidal Atrophy


Choroideremia


Combined Lipase Deficiency


Familial lipase maturation factor 1 deficiency


Harlequin Ichthyosis


Harlequin ichthyosis


Acute Disseminated Langerhans Cell Histiocytosis


Langerhans cell histiocytosis


Nijmegen Breakage Syndrome


Nijmegen breakage syndrome


Achromatopsia 2


Achromatopsia


fHLH


Familial hemophagocytic lymphohistiocytosis


Pelizaeus-Merzbacher Disease


Pelizaeus-Merzbacher disease


Hypomanic Mood


Holoprosencephaly Sequence


Holoprosencephaly


Hyperlysinemia


Peroxisome Biogenesis Disorder 7A


Trisomy 20


Wilms tumor (WT)


Hydatid Mole


Wernicke Encephalopathy


Chronic Granulomatous Disease


Chronic granulomatous disease


Psychosis


Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


Hypochondrogenesis


Achondrogenesis type 2


Rett's syndrome


Rett syndrome


Triosephosphate-Isomerase Deficiency


Triose phosphate-isomerase deficiency


Hereditary Spherocytosis


Hereditary spherocytosis


Perlman Syndrome


Perlman syndrome


3-OH 3-Methyl Glutaric Aciduria


3-hydroxy-3-methylglutaric aciduria


Biotinidase Deficiency


Biotinidase deficiency


cirrhosis


Hereditary Factor X Deficiency


Congenital factor X deficiency


Factor IX 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


Adrenal Hypoplasia Congenita


Adrenal hypoplasia congenita


Neuronal Ceroid Lipofuscinosis Type 3


OBSOLETE: Congenital neuronal ceroid lipofuscinosis


Multiple sclerosis


Achondroplasia


SCAD


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


Acoustic Neurofibromatosis


Full NF2-related schwannomatosis


Late Infantile Neuronal Ceroid Lipofuscinosis


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


Langer-Giedion Syndrome


Trichorhinophalangeal syndrome type 2


Syndromic aniridia


Epidermolysis Bullosa Simplex


Autosomal dominant generalized epidermolysis bullosa simplex, severe form


Cowden's Disease


Cowden syndrome


Walker-Warburg syndrome


Orofacial Cleft 1


Cleft lip/palate


Hyperglycerolemia


Isolated glycerol kinase deficiency


Polycystic Kidney Disease, Infantile Type


Autosomal recessive polycystic kidney disease


Carnitine-Acylcarnitine Translocase Deficiency


Carnitine-acylcarnitine translocase deficiency


Fraser Syndrome


Fraser syndrome


Congenital muscular dystrophy, Fukuyama type


Truncus Arteriosus


Common arterial trunk


Great Vessels Transposition


Transposition of the great arteries


Reye Syndrome


Reye syndrome


Generalized Arterial Calcification of Infancy 1


Generalized arterial calcification of infancy


Platelet Glycoprotein Ib Deficiency


Bernard-Soulier syndrome


Kallmann Syndrome


Kallmann syndrome


Greig Cephalosyndactyly Syndrome


Greig cephalopolysyndactyly syndrome


D-Glyceric Aciduria


D-glyceric aciduria


Sjogren-Larsson Syndrome


Sjögren-Larsson syndrome


Thyroid Follicular Adenoma


Leber Hereditary Optic Atrophy


Leber hereditary optic neuropathy


Fryns Syndrome


Fryns syndrome


De Sanctis-Cacchione Syndrome


De Sanctis-Cacchione syndrome


Familial Hypotransferrinemia


Congenital atransferrinemia


Leiomyoma of Uterine Corpus


Marshall Syndrome


Marshall syndrome


Kennedy Disease


Kennedy disease


Renal Agenesis


Renal agenesis


Chondroectodermal Dysplasia


Ellis Van Creveld syndrome


Oculocutaneous albinism type 1A


albinism


Oculocutaneous albinism


Pena-Shokeir syndrome, Type 1


Fetal akinesia deformation sequence


Angelman Syndrome


Angelman syndrome


WVS


Weaver syndrome


Multiple Endocrine Adenomatosis Type IIB


Multiple endocrine neoplasia type 2B


Wermer Syndrome


Multiple endocrine neoplasia type 1


Hypomelanosis of Ito


Nevus of Ito


Spondyloepimetaphyseal Dysplasia, Sponastrime Type


SPONASTRIME dysplasia


myasthenia gravis


Myasthenia gravis


Spondyloperipheral Dysplasia


Spondyloperipheral dysplasia-short ulna syndrome


MERRF Syndrome


MERRF


Chromosome 18q Deletion Syndrome


Monosomy 18q syndrome


Potocki-Shaffer Syndrome


Potocki-Shaffer syndrome


Mevalonic Aciduria


Mevalonic aciduria


Achalasia-Addisonianism-Alacrima Syndrome


Triple A syndrome


Proteus Syndrome


Proteus syndrome


Pyruvate dehydrogenase E1-alpha deficiency


ALAD Deficiency


Porphyria due to ALA dehydratase deficiency


Norrie Syndrome


Norrie disease


Acrocephalosyndactyly Type I


Apert syndrome


Pettigrew Syndrome


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


Hypoplastic left heart syndrome


Synaptic congenital myasthenic syndromes


Dandy-Walker Syndrome


Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome


CAVD


Congenital bilateral absence of vas deferens


46,XY Sex Reversal 4


Hermansky-Pudlak syndrome due to BLOC-3 deficiency


Juvenile Myoclonic Epilepsy


Juvenile myoclonic epilepsy


Schimke Immuno-Osseous 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


Multifunctional Enzyme 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


MTHFR


Homocystinuria due to methylene tetrahydrofolate reductase deficiency


Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency


MASA syndrome


Shprintzen-Goldberg Craniosynostosis Syndrome


Shprintzen-Goldberg syndrome


Williams-Beuren Syndrome (WBS)


Williams syndrome


Chromosome 17p11.2 Deletion Syndrome


Smith-Magenis syndrome


Denys-Drash syndrome


Maturity-Onset Diabetes of the Young, Type 2


Familial Female Breast Carcinoma


Hereditary breast cancer


Glomus Tumor


Glomus tumor


Generalized Epilepsy


BRCA1 Syndrome


Hereditary breast and/or ovarian cancer syndrome


DRPLA


Dentatorubral pallidoluysian atrophy


Cleft Palate


Cleft palate


Nemaline Myopathy 2


Typical nemaline myopathy


Spinal Myelocele


Neural tube closure defect


Mosaic Variegated Aneuploidy Syndrome 1


Mosaic variegated aneuploidy syndrome


Site Specific Early Onset Breast Cancer Syndrome


Morbid Obesity


Leiomyomatous Tumor


HFE-Associated Hereditary Hemochromatosis


Symptomatic form of HFE-related hemochromatosis


NIID


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


Owren Disease


Congenital factor V deficiency


Partial Epilepsy


FMF


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 ophthalmoplegia


Progressive supranuclear palsy


Deep Vein Thrombosis (DVT)


Santavuori Disease


Facioscapulohumeral Muscular Dystrophy 1


Facioscapulohumeral dystrophy


Sanjad-Sakati Syndrome


Sanjad-Sakati syndrome


BPS


Bartsocas-Papas syndrome


Common Atrioventricular Canal


Atrioventricular septal defect


Cystinuria


Peroxisome Biogenesis Disorder 1A


Eagle-Barrett Syndrome


Prune belly syndrome


Congenital Nephrotic Syndrome


Genetic nephrotic syndrome


Fanconi Anemia, Complementation Group D2


Aspermia


Chromosome Y microdeletion syndrome


Osteogenesis Imperfecta Type IV


Osteogenesis imperfecta type 4


Alexander Disease


Alexander disease


X-linked Emery-Dreifuss muscular dystrophy


Isobutyryl-CoA Dehydrogenase Deficiency


Isobutyryl-CoA dehydrogenase deficiency


2-Methylbutyryl-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


Trisomy X syndrome


Pantothenate Kinase-Associated Neurodegeneration


Atypical pantothenate kinase-associated neurodegeneration


ADHD


Hermansky-Pudlak syndrome due to BLOC-2 deficiency


Hermansky-Pudlak syndrome due to AP-3 deficiency


Frontonasal Dysplasia 1


Frontorhiny


Cleidocranial Dysostosis


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


Varadi-Papp Syndrome


Orofaciodigital syndrome type 6


Holoprosencephaly-Polydactyly Syndrome


Holoprosencephaly-postaxial polydactyly syndrome


Familial Multilocular Cystic Disease of the Jaws


Cherubism


Pearson Syndrome


Pearson syndrome


Oromandibular-Limb Hypogenesis Spectrum


Moebius syndrome


Hypochondroplasia


Hyperphosphatemic Familial Tumoral Calcinosis


Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome


Hashimoto disease


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


LGS


Lennox-Gastaut syndrome


CDGIg


Deafness, Autosomal Recessive 49


Rare autosomal recessive non-syndromic sensorineural deafness type DFNB


Deafness, Autosomal Recessive 28


Langer Type Mesomelic Dysplasia


Langer mesomelic dysplasia


FXTAS


Fragile X-associated tremor/ataxia syndrome


X-linked 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, leptodactylic type


Jackson-Weiss Syndrome


Jackson-Weiss syndrome


Adult-onset distal myopathy due to VCP mutation


Congenital Disorder of Glycosylation Type Ij


CDGIa


Congenital Disorder of Glycosylation Type Ie


CDGId


CDGIc


CDGIf


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, unspecified site


Mantle cell lymphoma


Cancer of Stomach


Gastric Tubular Adenocarcinoma


Extraskeletal Chondrosarcoma


Extraskeletal myxoid chondrosarcoma


Pleural Biphasic Mesothelioma


Sezary disease


Sézary syndrome


B Acute Lymphoblastic Leukemia with TCF3-HLF Fusion


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


Epidermolysis Bullosa


Inherited epidermolysis bullosa


ABC DLBCL


Renal Cystadenocarcinoma


Multilocular cystic renal neoplasm of low malignant potential


Giant Cell Carcinoma of the Lung


Endocervical Carcinoma


Adenocarcinoma of the cervix uteri


Adrenocortical Carcinoma


Adrenocortical carcinoma


Breast Squamous Cell Carcinoma, Acantholytic Variant


Metastatic Breast Lobular Carcinoma


NUT Midline Carcinoma


NUT midline carcinoma


Hemimegalencephaly


Adult Precursor T-Lymphoblastic Lymphoma


Hodgkin Lymphoma


Hodgkin lymphoma


Acoustic Neurilemmoma


Vestibular schwannoma


Childhood Carcinoma of Liver Cell


Pediatric hepatocellular carcinoma


Primary Carcinoma of the Liver Cells


Hepatocellular carcinoma


Mature Teratoma of Stomach


Extragonadal teratoma


Primary Cutaneous T-Cell Non-Hodgkin's Lymphoma


Primary cutaneous T-cell lymphoma


Malignant Lymphomas of the CNS


Primary central nervous system lymphoma


Laryngeal Squamous Cell Carcinoma


Squamous cell carcinoma of the larynx


Mast cell leukaemia


Mast cell leukemia


Vaginal Melanoma


Cervical Adenosquamous Carcinoma, Glassy Cell Variant


Glassy cell carcinoma of the cervix uteri


Cervical Melanoma


Spindle cell sarcoma


neoplasia


Lymphoma (Hodgkin's and Non-Hodgkin's)


Histiocytic Sarcoma


Histiocytic sarcoma


Chronic Lymphadenitis


Dermatofibrosarcoma protuberans, NOS


Dermatofibrosarcoma protuberans


Teratoma of the Ovary


Synovial sarcoma


hyperplasia


Chronic Unifocal Langerhans Cell Histiocytosis


Skin Inflammation/ Irritation


Small cell B-cell lymphoma, unspecified site


Leiomyosarcoma (excluding uterine leiomyosarcoma)


Leiomyosarcoma


WHO Grade 2 Oligodendroglial Neoplasm


Oligodendroglioma


Giant Cell Sarcoma of the Bone


Giant cell tumor of bone


Granulomatous Lesion


Urethra Transitional Cell Carcinoma


Bladder Urothelial Cancer


Non-papillary transitional cell carcinoma of the bladder


Fibrous Dysplasia


Fibrous dysplasia of bone


Histiocytoma


Skin Keratoacanthoma


Osteoid Osteoma


Paget Cell Neoplasm


rhabdomyosarcoma


Rhabdomyosarcoma


Epithelioid Cell Sarcoma


Epithelioid sarcoma


Fanconi Anemia, Complementation Group B


Fanconi Anemia, Complementation Group D1


Krukenberg Neoplasm


Epidermoid Carcinoma of Maxillary Sinus


Squamous cell carcinoma of the nasal cavity and paranasal sinuses


Relapsed Cancer of the Bladder


senile keratosis


Pre-Sacral Teratoma


Sacrococcygeal teratoma


Mycosis fungoides, unspecified site


Classic mycosis fungoides


Immunodeficiency with Hyper-IgM


X-linked hyper-IgM syndrome


Common variable immune deficiency (CVID)


Common variable immunodeficiency


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


Immunodeficiency 5


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


Adenosquamous Cell Carcinoma of the Uterine Cervix


Cervical Squamous Cell Carcinoma, Not Otherwise Specified


Primary Bone Chondrosarcoma


B-ALL


B-Cell Prolymphocytic Leukemia


B-cell prolymphocytic leukemia


Blastic Phase Chronic Myelogenous Leukemia


Mediastinal (thymic) large B-cell lymphoma, unspecified site


Primary mediastinal large B-cell lymphoma


Childhood Acute Myeloblastic Leukemia with Maturation (M2)


Acute myeloblastic leukemia with maturation


Adult Acute Myeloid Leukemia Minimally Differentiated


Acute myeloid leukemia with minimal differentiation


Acute Myelomonocytic Leukemia


Acute myelomonocytic leukemia


Granulosa Cell Neoplasm of the Ovary


Malignant granulosa cell tumor of the ovary


Precursor Natural Killer Cell Lymphoblastic Leukemia/Lymphoma


T Cell Prolymphocytic Leukemia


T-cell prolymphocytic leukemia


Perihilar Cholangiocarcinoma


Liver Fluke-Related Cholangiocarcinoma


Klatskin tumor


B Lymphoblastic Leukemia/Lymphoma with ETV6::RUNX1 Fusion


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


Liver and Intrahepatic Biliary Tract Carcinoma


Combined hepatocellular carcinoma and cholangiocarcinoma


Pheochromocytoma


Sporadic pheochromocytoma/secreting paraganglioma


Inflammatory carcinoma


AIDS-Related Kaposi's Sarcoma


Kaposi sarcoma


Peripheral Neuroectodermal Tumor of Bone


Peripheral primitive neuroectodermal tumor


anemia


Hyper-IgM syndrome type 2


Darier Disease


Darier disease


idiopathic pulmonary fibrosis


Idiopathic pulmonary fibrosis


Epithelioid Angiosarcoma


Epithelioid hemangioendothelioma


Adenocarcinoma of the Cecum


M0 Acute Myelogenous Leukemia with Minimal Differentiation


Malignant Mesothelioma of the Pleura


Nodular Malignant Melanoma of the Skin


Adult Acute Megakaryoblastic Leukemia


Mucinous Cystadenocarcinoma of Ovary


Squamous Cell Carcinoma of Retromolar Trigone


Oropharyngeal Squamous Cell Carcinoma


Squamous cell carcinoma of the oropharynx


B Cell Chronic Lymphocytic Leukemia


B-cell chronic lymphocytic leukemia


Sarcoma of Corpus Uteri


Sarcoma of the corpus uteri


Endometrial Adenosquamous Carcinoma


Gastric (Stomach) Adenosquamous Cancer


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


Ovarian Serous Cystadenofibroma


Benign Ovarian Serous Cystadenoma


Pleural Sarcomatoid Mesothelioma


Oral Leukoplakia


Thyroid Gland Neuroendocrine Carcinoma


Medullary thyroid carcinoma


Acute Myeloid Leukemia (AML) with Maturation


Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM(EVI1)


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


Acute biphenotypic leukemia


Mixed phenotype acute leukemia


Askin tumor


Pediatric Acute Lymphocytic 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


Bronchiolo-Alveolar Lung Carcinoma


Cervix Uteri Small Cell Carcinoma


High-grade neuroendocrine carcinoma of the cervix uteri


Papillary Lung Adenocarcinoma


Lung Sarcomatoid Carcinoma


Prostate Small Cell Carcinoma


Lung NET


Extraosseous Ewing's Sarcoma


Extraskeletal Ewing sarcoma


Testicular Yolk Sac Tumor


Yolk sac tumor


Multiple System Atrophy


Multiple system atrophy


Lewy Body Disease


Acute ischemic stroke


Dissection of carotid artery


Epilepsy


Parkinson Disease 2, Autosomal Recessive Juvenile


Young-onset Parkinson disease


Cortical Basal Ganglionic Degeneration


Striatonigral Degeneration


Arteriovenous Angioma


Subarachnoid Hemorrhage


Intracerebral hemorrhage


Intracranial Aneurysm


Pathologic AV Fistula


Progressive Muscular Atrophy


Progressive muscular atrophy


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


Man-in-barrel Syndrome


Pseudobulbar Palsy


Progressive bulbar palsy


Bulbospinal muscular atrophy of adult


Myxofibrosarcoma


Yolk Sac Tumor of Ovary


Alveolar rhabdomyosarcoma


Adenocarcinoma of Esophagus


Anaplastic Gastric Carcinoma


Undifferentiated carcinoma of stomach


HTLV-I Associated Adult T-Cell Leukemia/Lymphoma


Adult T-cell leukemia/lymphoma


Medulloblastoma, SHH-Activated, TP53-Wildtype


Cystadenocarcinoma of the Ovary


Pyriform Fossa Squamous Cell Carcinoma


Head and Neck Basaloid Carcinoma


Pancreatic Somatostatinoma


Somatostatinoma


Grade 1 Astrocytic Tumor


Pilocytic astrocytoma


Leiomyosarcoma of the Ovary


Thyroid Sarcoma


Squamous Cell Carcinoma of the Upper Gingiva


Adenoid Cystic Carcinoma of Salivary Gland


Squamous Cell Carcinoma of the Bladder


Gastric Choriocarcinoma


Soft Tissue Fibrosarcoma


Soft tissue sarcoma


Epithelial Hepatic and Intrahepatic Bile Duct Neoplasm


Vulvar Leiomyosarcoma


Amelanotic Melanoma of Skin


Leiomyosarcoma of the uterus


Leiomyosarcoma of the corpus uteri


DIPG


Diffuse intrinsic pontine glioma


Pleomorphic Breast Carcinoma


Philadelphia-Positive ALL


Renal Angiomyolipoma


LIPOSARCOMA, MALIGNANT


Liposarcoma


Carcinoma of the Vulva


Vulvar carcinoma


Acute T Cell Leukemia


Testicular seminoma


Testicular seminomatous germ cell tumor


Squamous Cell Carcinoma, Keratinizing


Non-Hodgkin lymphoma, NOS


Basal Cell Skin Carcinoma


Invasive Adenocarcinoma of the Ampullary Region


Carcinoma of the ampulla of Vater


Undifferentiated Gallbladder Cancer


Ampulla of Vater Adenosquamous Carcinoma


Clear Cell Carcinoma of Endometrium


Familial Thyroid Gland Medullary Carcinoma


Familial medullary thyroid carcinoma


Malignant Extrarenal Rhabdoid Neoplasm


Trichothiodystrophy 1, Photosensitive


Trichothiodystrophy 3, Photosensitive


LBL


Non-Hodgkin lymphoma


Sacral Chordoma


Chordoma


essential thrombocythemia


Essential thrombocythemia


Tonsil Squamous Cell Carcinoma


Kidney Pelvis Carcinoma


hereditary leiomyomatosis and renal cell cancer syndrome


Hereditary leiomyomatosis and renal cell cancer


Splenic Marginal Zone B-Cell Lymphoma


Splenic marginal zone lymphoma


WHO Follicular Lymphoma Histologic Grade 1


XPV


Xeroderma pigmentosum variant


XP-CS


Xeroderma pigmentosum-Cockayne syndrome complex


Xeroderma Pigmentosum Group G


Xeroderma Pigmentosum, Complementation Group F


Xeroderma Pigmentosum Group B


Benign Schwannoma


brain


canalis cervicis uteri


calcium tissue


external epithelium of cornea


vertebrate blood


distal femoral epiphysis


pulmo


mammary part of chest


lung primordium


entire skin


epithelial tissue of endometrium


thigh bone


prostate


bronchi epithelial tissue


vertebrate dermis


skin of arm


breast epithelium


pancreatic primordium


tracheobronchial epithelium


omentum


gonada of female organism reproductive system


gonad of male genitalia


ascitic fluid


stomach


mammary gland milk


retroperitoneal node


prostate gland epithelial tissue


kidney


acetabular region


lymph node


foreskin of penis


vertebrate epidermis


allantoic placenta


lobus temporalis


vesica urinaria


pleural effusion


ureter


medulla ossea


lobus frontalis


thyroid


lymph node of neck


soft palate


hypoderm


spleen


optic cup


tunica vasculosa of eyeball


muscle organ


mandibular gland


leg zone of skin


right frontal lobe


late embryo


lower chamber of heart


wall of pleural sac


tunica mucosa uteri


zone of skin of abdomen


skin of sacral region


hip region zone of skin


skin of buttock


zone of skin of anterolateral part of thorax


funiculus umbilicalis


amniotic fluid


hind limb stylopod skin


skin of posterior part of leg


zone of skin of shoulder


gums


gonada


skin of digitus pedis


zone of skin of neck


iliac artery endothelium


umbilical vein


zone of skin of adult scalp


skin of breast


interlobular stroma of mammary gland


fat


regio glutealis


pelvis skin


stylopod of hindlimb


subcutaneous abdominal fat


left supraclavicular lymph node


left occipital lobe


large bowel


retinal pigment epithelium


duodenum


epithelium of eye lens


regio parietalis


trophoblast layer


colon ascendens


supraclavicular node


cerebral falx


brain rudiment


kidney pelvis


blastocyst


margo alveolaris


buccal mucosa


tongue


pelvis region


inguen


mandibular arch skeleton


pancreas


costal cartilage


humeri


proximal end of tibia


umbilical cord blood


wall of abdomen proper


small intestine


puboperineal region


patella


muscle of thigh


subserosa of uterine tube


liver


inguinal lymph node


forearm skin


face skin


windpipe


skull


cavum extradurale


retroperitoneum


glandula suprarenalis


eye socket


chest cavity


regio oralis


peritoneal fluid


coronary arterial tree


colon descendens


sigmoid colon


celiac node


external soft tissue zone


oesophagus


pelvic wall


axillary node


urinary bladder fundus


stratum granulosum of ovarian follicle


vertebra thoracica


zone of skin of inguinal region


lens crystallina


pericardial fluid


posterior cranial fossa


skin of heel


Brain, right parasagittal parietal region.


right parietal lobe


maxilla


terminal portion of intestine


exocervical epithelium


bile duct


uterine glands set


endocervical glandular epithelium


mediastinal node


thymic primordium


laryngopharynx


gall bladder


stomach epithelium


Brain, left fronto-parietal lobe.


tunica muscularis (myometrium)


pericardium


cartilage tissue


tunica conjunctiva


cornea of camera-type eye


uterus


uterine tube (sensu Mammalia)


skin of external genitalia


epididymis


nasal conduit space


abdominopelvic region


amnios


spleen mesenchyme


skin of iliac crest region


skin of umbilical area


future eye


chorionic villus


auricular region of head zone of skin


Achilles tendon


future diaphragm


skeletal muscle tissue of diaphragm


skin of armpit


chambered heart


tunica albuginea


skeletal muscle tissue


tonsil


stomach pyloric antrum


kidney epithelial tissue


pars abdominalis aortae


skin, dorsal region


presumptive telencephalon


optic nerve (II) foramen


floor of oval cavity


conjunctival epithelium


blood microvessel


cortex of cerebral hemisphere


vestibular root of eighth cranial nerve


oral roof


left parietal lobe


femoral artery


bone of limb


peritoneum


iliac artery smooth muscle tissue


cellular trophoblast


thoracic aorta smooth muscle tissue


iliac vein endothelium


iliac vein smooth muscle tissue


proximal kidney tubule


neck


vagina


Rivinus' gland


ovary germinal epithelium


pulmonary artery endothelial tube


parotid epithelium


respiratory portion of lung


pulmonary venous tree organ part


bowel


thymus organ


mesenteric node


terminal segment of free upper limb digit skin


bronchi


textus connectivus


zone of skin of torso


future tongue


left temporal lobe


os sacrum [vertebrae sacrales I - V]


muscle of thigh or crus


urethra


shankbone


proximal humeral epiphysis


vertebral column


pharynx


parotid


bone marrow stroma


sciatic nerve


hand skin


sinus maxilliaris


coccyx [coccygeal vertebrae I-IV]


saphenous vein smooth muscle tissue


trunk of aortic tree


cortex renalis


lactiferous gland


larynx


pretracheal node


suprarenal medulla


Brain, right fronto-parietal lobe.


Right pararenal lymph node.


ileum


cluster of meninges


pectoralis major muscle structure


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


right caudal lobe of lung


cecum


valva ileocaecalis (valva ilealis)


retromolar triangle


iliac lymph node


cortex (glandula suprarenalis)


synovium


bone of pelvis


retina of camera-type eye


CSF


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


mucosa of large bowel


knee region


nasal part of pharynx


lower leg muscle


perigastric node


Casserio's muscle


ampulla of uterine tube


innominate bone


buccal cavity


pancreatic insula


pelvic muscle


pyloric node


muscle organ of perineum


urachus


future retinal pigmented epithelium


presumptive rhombencephalon


anterior part of tongue


left upper lobe of lung


esophagus distal third


lymph node of thorax


eye region


fascia of Zuckerkandl


obturator node


eye


scapulae


pons Varolii


chest wall


renal glomeruli


sebaceous gland of skin


mandibulla


aortic smooth muscle


thyroid primordium


os ilii


fascia cluster


extrahepatic bile duct


ampulla biliaropancreatica


ileocaecal lymph node


back


tonsillar sinus


supraglottis


urinary bladder transitional epithelium


glottis


vertebrae


vagina mucosa of organ


fibula


eye globe


prostate stroma


Brain, right temporo-occipital lobe.


arm


Human papilloma virus type 18


Rhesus macaque polyomavirus


Epstein Barr virus


benzo[pqr]tetraphene


ethyl methanesulfonate


Adenovirus 5


Human papillomavirus - 68


N-(2-chloroethyl)-N'-(6-chloro-2-methoxyacridin-9-yl)propane-1,3-diamine dihydrochloride


Human papillomavirus type 38


human papillomavirus type 16 HPV16


asbestos


Ad12-SV40 hybrid virus


Human herpesvirus 8 type P


N-Methyl-N'-nitro-N-nitrosoguanidine


Human T-cell lymphotropic virus type I


hepatitis B virus (HBV)


Ad5-SV40 hybrid virus


v-Myc


Ad-SV40 hybrid virus


Astatine-211 Alpha Radiation


GAMMA RAY


Human papillomavirus - 56


Kirsten murine sarcoma virus


Human papillomavirus type 30


nickel(II) cation


Cesium-137 Gamma Radiation


Cobalt-60 Gamma Radiation


Human T-cell lymphotropic virus type II


Human papillomavirus - 45


4-nitroquinoline 1-oxide


herpes simplex virus type-1 HSV-1


Herpes simplex virus type 2 (HSV-2)


N-Methyl-N-nitrosourea


epithelial cell of cornea


fibroblast of lung


skin fibroblast


epitheliocyte


T-cell


bronchial epithelial cell


B-cell


epithelial cell of tracheobronchial tree


luminal cell of lactiferous duct


prostate epithelial cell


malpighian cell


breast epithelial cell


fibroblast


retinal stem cell


kidney epithelial cell


embryonic cardiomyocyte


foreskin fibroblast


endothelial cell of umbilical vein


stromal cell


retinal pigment epithelial cell


lens epithelial cell


ESC


cartilage cell


epithelial cell of uterus


Treg


tracheocyte


smooth muscle cell of the coronary artery


colon epithelial cell


stromal cell of endometrium


hepatocyte


intestinal epithelial cell


melanocyte of foreskin


epithelial cell of stomach


ICC


cardiac fibroblast


splenic fibroblast


fibroblast of the conjunctiva


fibroblast of gingiva


ovarian fibroblast


muscle fibroblast


skeleton muscle fibroblast


myoblast


aortic endothelial cell


endotheliocyte


nerve cell


neurolemmocyte


mesenchyme cell


epithelial cell of esophagus


arterial endothelial cell


osteoblast


vascular smooth muscle cell


endothelial cell of vein


kidney proximal tubule epithelial cell


histaminocyte


ovarian surface epithelial cell


pancreatic ductal cell


marrow fibroblast


hepatic stellate cell


myometrium smooth muscle cell


smooth muscle cell of the umbilical vein


myeloblast


phaeochromocyte


BaP


mononuclear leukocyte


MFB


mesotheliocyte


fibroblast-like synoviocyte


Muller cell


monocyte


Clara cell


melanocyte


NK cell


thyroid gland follicular cell


gingival epithelial cell


pancreatic delta cell


skin melanocyte


bone marrow stromal cell


glomerular endothelial cell


astrocyte


sebocyte


clear cell of thyroid gland


mesenchymal stem cell of the bone marrow


mesenchymal stem cell of umbilical cord


urothelial cell


prostate stromal cell