Usher syndrome type 1D

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Summary

Literature (0)

DOID:0110831 - Usher syndrome type 1D

Disease Ontology Definition:An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.

Synonyms: USH1D, Usher syndrome type ID,

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

: pcdh15

OMIM:

MIM:601067 - usher syndrome, type id; ush1d usher syndrome, type id/f, cdh23/pcdh15, digenic, included;; ush1d/f, cdh23/pcdh15, digenic, included

MIM:601067 - usher syndrome, type id; ush1d usher syndrome, type id/f, cdh23/pcdh15, digenic, included;; ush1d/f, cdh23/pcdh15, digenic, included

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

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

Parent(s): Usher syndrome type 1 (is_a)