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Metadata
ID 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
Xrefs

ICD10CM:H35.5

MIM:605472

Synonyms

USH2C [EXACT]

Usher syndrome IIC [EXACT]

Usher syndrome type IIC [EXACT]

Parent Relationships

is_a Usher syndrome type 2

is_a digenic disease

Subclass Logical Relationships

has material basis in some digenic inheritance

has material basis in some autosomal recessive inheritance

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