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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
digenic disease +     
acrocallosal syndrome +   
AMED syndrome  
autosomal recessive nonsyndromic deafness 1A  
autosomal-mitochondrial sensorineural deafness  
craniosynostosis 7  
dyskeratosis congenita +   
facioscapulohumeral muscular dystrophy 2  
facioscapulohumeral muscular dystrophy 3  
facioscapulohumeral muscular dystrophy 4  
hereditary coproporphyria +   
hereditary hypophosphatemic rickets with hypercalciuria  
iminoglycinuria  
Joubert syndrome 15  
Joubert syndrome 9  
long QT syndrome 1  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
methylmalonic aciduria and homocystinuria type cblC  
ocular albinism with sensorineural deafness  
oculocutaneous albinism type IB  
Parkinson's disease 6  
primary pulmonary hypertension +   
proteasome-associated autoinflammatory syndrome 1  
proteosome-associated autoinflammatory syndrome 3  
retinitis pigmentosa 7  
short-rib thoracic dysplasia 7 with or without polydactyly  
spinocerebellar ataxia type 17  
Usher Syndrome Type 1B  
Usher syndrome type 1C  
Usher syndrome type 1D +   
An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. (DO)
Usher syndrome type 1E 
Usher syndrome type 1F +   
Usher syndrome type 1G  
Usher syndrome type 1H 
Usher syndrome type 1J  
Usher syndrome type 1K 
Usher Syndrome Type 1M  
Usher syndrome type 2C  
Waardenburg syndrome type 2A  

Synonyms
Exact Synonyms: USH1D ;   Usher syndrome, type ID
Primary IDs: MESH:C536487 ;   MESH:C563400
Alternate IDs: OMIM:601067
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11138009 "DO" "DO"

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