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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alpha-2-Deficient Collagen Disease 
Aquaporin 1 Deficiency  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
BOCKENHEIMER SYNDROME  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT2  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
chromosomal disease +   
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
Congenital Hepatic Fibrosis  
Congenital Pain Insensitivity +   
desquamative interstitial pneumonia  
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Genetic Skin Diseases +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies +   
Marfan syndrome +   
monogenic disease +   
A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO)
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
polygenic disease +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Sacral Agenesis with Vertebral Anomalies  
yellow nail syndrome +  
 Alport syndrome +   
 anterior segment dysgenesis +   
 autosomal genetic disease +   
 Bartter disease +   
 basal laminar drusen  
 Brugada syndrome +   
 Camurati-Engelmann disease +   
 cardiofaciocutaneous syndrome +   
 cataract +   
 catecholaminergic polymorphic ventricular tachycardia +   
 chondrodysplasia punctata +   
 ciliopathy +   
 cone-rod dystrophy +   
 Cornelia de Lange syndrome +   
 corticosteroid-binding globulin deficiency  
 dilated cardiomyopathy 1BB  
 dilated cardiomyopathy 1EE  
 dilated cardiomyopathy 1FF  
 dilated cardiomyopathy 1G  
 dilated cardiomyopathy 1GG  
 dilated cardiomyopathy 1H  
 dilated cardiomyopathy 1I  
 dilated cardiomyopathy 1J  
 dilated cardiomyopathy 1K 
 dilated cardiomyopathy 1L  
 dilated cardiomyopathy 1M  
 dilated cardiomyopathy 1O  
 dilated cardiomyopathy 1P  
 dilated cardiomyopathy 1Q 
 dilated cardiomyopathy 1T  
 dilated cardiomyopathy 1W  
 dilated cardiomyopathy 1Z  
 erythrokeratodermia variabilis +   
 familial hemophagocytic lymphohistiocytosis 5  
 familial nephrotic syndrome +   
 Fanconi anemia complementation group F  
 Fanconi anemia complementation group G  
 Fanconi anemia complementation group J  
 Fanconi anemia complementation group N  
 fetal akinesia deformation sequence syndrome +   
 gene duplication disease +   
 hereditary combined deficiency of vitamin K-dependent clotting factors +   
 hypochondrogenesis  
 infantile histiocytoid cardiomyopathy  
 inflammatory bowel disease 1  
 inflammatory bowel disease 10  
 inflammatory bowel disease 11 
 inflammatory bowel disease 12  
 inflammatory bowel disease 13  
 inflammatory bowel disease 14  
 inflammatory bowel disease 15 
 inflammatory bowel disease 16 
 inflammatory bowel disease 17  
 inflammatory bowel disease 18 
 inflammatory bowel disease 19  
 inflammatory bowel disease 2 
 inflammatory bowel disease 20 
 inflammatory bowel disease 22 
 inflammatory bowel disease 23 
 inflammatory bowel disease 24 
 inflammatory bowel disease 26 
 inflammatory bowel disease 27 
 inflammatory bowel disease 4 
 inflammatory bowel disease 5  
 inflammatory bowel disease 6 
 inflammatory bowel disease 7 
 inflammatory bowel disease 8 
 inflammatory bowel disease 9 
 isolated microphthalmia 4  
 lambda 5 deficiency 
 Leber congenital amaurosis 10  
 Leber congenital amaurosis 3  
 Leber congenital amaurosis 7  
 multiple epiphyseal dysplasia due to collagen 9 anomaly +   
 Noonan syndrome +   
 osteogenesis imperfecta type 14  
 osteogenesis imperfecta type 6  
 posterior polymorphous corneal dystrophy 3  
 postural orthostatic tachycardia syndrome 
 primary congenital glaucoma +   
 Ritscher-Schinzel syndrome +   
 schizophrenia 13 
 schizophrenia 14 
 schizophrenia 16 
 schizophrenia 18  
 schizophrenia 9  
 SHOX-related short stature  
 X-linked monogenic disease +   
 Y-linked monogenic disease +