Usher syndrome type 2C

Summary

DOID:0110839 - Usher syndrome type 2C

Disease Ontology Definition:An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.

Synonyms: USH2C, Usher syndrome type IIC, Usher syndrome IIC

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: adgrv1

MIM:

MIM:605472 - usher syndrome, type iic; ush2c usher syndrome, type iic, gpr98/pdzd7, digenic, included;; usher syndrome, type iib, formerly, included; ush2b, formerly, included

MIM:605472 - usher syndrome, type iic; ush2c usher syndrome, type iic, gpr98/pdzd7, digenic, included;; usher syndrome, type iib, formerly, included; ush2b, formerly, included

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): digenic disease (is_a), Usher syndrome type 2 (is_a)