FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Usher syndrome type 2C ID (Ontology) DOID:0110839 (Human Disease)
Definition An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.
Also Known As "USH2C" ; "Usher syndrome IIC" ; "Usher syndrome type IIC"
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 Genes
 Usher syndrome type 2C       2
 for disease ribbon | Usher syndrome type 2C       2
 model of | Usher syndrome type 2C       2
Spanning Tree (Parents/Children)
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Usher syndrome
 |__Usher syndrome type 2__
polygenic disease          |
 |__digenic disease________|
                           Usher syndrome type 2C  2 rec.
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Is a digenic disease
Usher syndrome type 2
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Synonyms
  • "USH2C" EXACT OMO:0003012
    "Usher syndrome IIC" EXACT
    "Usher syndrome type IIC" EXACT
Secondary IDs
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ICD10CM:H35.5
MIM:605472