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Ontology Browser

Term:
Usher syndrome type 2C (DOID:0110839)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
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  

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

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