Terminology Service for NFDI4Health

Usher syndrome type 2D

Go to external page http://purl.obolibrary.org/obo/DOID_0110840


An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Usher syndrome type 2D

Synonyms
  • USH2D
  • Usher syndrome type IID
database cross reference
has obo namespace

disease_ontology

id

DOID:0110840