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Metadata
DOID DOID:0110839
Name Usher syndrome type 2C
Definition An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.
https://www.ncbi.nlm.nih.gov/pubmed/14740321
Synonyms

USH2C [EXACT]

Usher syndrome type IIC [EXACT]

Xrefs

ICD10CM:H35.5

OMIM:605472

Relationships

is_a Usher syndrome type 2

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