Terminology Service for NFDI4Health

Usher syndrome type 2C

Go to external page http://purl.obolibrary.org/obo/DOID_0110839


An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Usher syndrome type 2C

Synonyms
  • USH2C
  • Usher syndrome type IIC
database cross reference
has obo namespace

disease_ontology

id

DOID:0110839