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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 1D +   
Usher syndrome type 2A  
Usher syndrome type 2C  
An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. (DO)
Usher syndrome type 2D  
Usher Syndrome, Type 2B  
Waardenburg syndrome type 2A  

Synonyms
Exact Synonyms: USH2C ;   Usher Syndrome, Type IIC ;   Usher syndrome IIC
Narrow Synonyms: USH2B ;   Usher Syndrome Type 2c, GPR98/PDZD Digenic ;   Usher syndrome, Type IIC, GPR98/PDZD7 digenic
Broad Synonyms: ADGRV1-RELATED CONDITION ;   ADGRV1-RELATED DISORDER
Primary IDs: MESH:C536492
Alternate IDs: OMIM:605472
Xrefs: NCI:C153174
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/14740321 "DO" "DO"

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