Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 1  
advanced sleep phase syndrome 2  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
AQUAPORIN 1 DEFICIENCY  
ataxia telangiectasia +   
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
Brugada syndrome +   
CADASIL +   
CAKUT2  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 18  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 33  
cataract 36  
cataract 37 
cataract 38  
cataract 41  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 5 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
cherubism +   
chromosomal disease +   
COL4A1-related familial vascular leukoencephalopathy  
complement factor I deficiency  
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  
complex cortical dysplasia with other brain malformations 7  
congenital amegakaryocytic thrombocytopenia  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
corticosteroid-binding globulin deficiency  
Cryoglobulinemia, Familial Mixed  
cutaneous T cell lymphoma +   
desquamative interstitial pneumonia  
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 1Y  
dilated cardiomyopathy 1Z  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
Dwarfism +   
dystonia 12  
dystonia 16  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 27  
dystonia 5  
dystonia 9  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
familial nephrotic syndrome +   
Familial Temporal Epilepsy +   
fatal infantile hypertonic myofibrillar myopathy  
fibrodysplasia ossificans progressiva  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
focal segmental glomerulosclerosis 9  
FTDALS3  
FTDALS4  
Fuhrmann syndrome  
Genetic Skin Diseases +   
Greig cephalopolysyndactyly syndrome  
hereditary angioedema +   
Hereditary Autoinflammatory Diseases +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hereditary neutrophilia  
hyperimmunoglobulin syndrome +   
hyperphosphatemia +   
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
IMMUNODEFICIENCY 31B  
Immunodeficiency 38, with Basal Ganglia Calcification  
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 21 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 25  
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 28  
inflammatory bowel disease 3 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
inherited blood coagulation disease +   
inherited metabolic disorder +   
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
isolated microphthalmia 1  
isolated microphthalmia 6  
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Kartagener syndrome  
karyomegalic interstitial nephritis  
Laminopathies  
Lennox-Gastaut syndrome  
long QT syndrome 1  
long QT syndrome 10 +   
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
Marfan syndrome +   
Miyoshi muscular dystrophy 1  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). (DO)
myoclonic dystonia 11  
myoclonic dystonia 26  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 4  
nemaline myopathy 5  
nemaline myopathy 6  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
Nervous System Heredodegenerative Disorders +   
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 3  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
neurodevelopmental disorder with midbrain and hindbrain malformations  
neurogenic arthrogryposis multiplex congenita +   
Neutropenia, Nonimmune Chronic Idiopathic, Adult  
Noonan syndrome 10  
orofaciodigital syndrome +   
osteochondrodysplasia +   
Parotidomegaly, Hereditary Bilateral 
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Pfeiffer syndrome  
platelet-type bleeding disorder 10  
polycystic kidney disease +   
postural orthostatic tachycardia syndrome  
primary autosomal recessive microcephaly +   
primary hypertrophic osteoarthropathy +   
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive familial intrahepatic cholestasis +   
pulmonary alveolar microlithiasis  
RASopathies  
Rh deficiency syndrome  
Sacral Agenesis with Vertebral Anomalies  
Saethre-Chotzen syndrome  
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 13 
schizophrenia 14 
schizophrenia 15  
schizophrenia 16  
schizophrenia 18  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5  
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
schizophrenia 9  
Sorsby's fundus dystrophy  
SOST-related sclerosing bone dysplasia  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 3  
spermatogenic failure 4  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 8  
split hand-foot malformation 1  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 4  
split hand-foot malformation 6  
spondylocarpotarsal synostosis syndrome  
subacute sclerosing panencephalitis +   
torsion dystonia 17 
torsion dystonia 7  
yellow nail syndrome +  

Synonyms
Primary IDs: RDO:9002037
Definition Sources: DO:wk,ls

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.