Terminology Service for NFDI4Health

Usher syndrome type 1D

Go to external page http://purl.obolibrary.org/obo/DOID_0110831


An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Usher syndrome type 1D

Synonyms
  • USH1D
  • Usher syndrome type ID
database cross reference
has obo namespace

disease_ontology

id

DOID:0110831