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

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

: pcdh15

MIM:

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: 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 1 (is_a)