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Metadata
ID DOID:0110831
Name Usher syndrome type 1D
Definition An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.
https://www.ncbi.nlm.nih.gov/pubmed/11138009
Xrefs

ICD10CM:H35.5

OMIM:601067

Synonyms

USH1D [EXACT]

Usher syndrome type ID [EXACT]

Parent Relationships

is_a Usher syndrome type 1

is_a digenic disease

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