OBO ID: DOID:0110839
Term Name: Usher syndrome type 2C Search Ontology:
Synonyms:
  • USH2C
  • Usher syndrome IIC
  • Usher syndrome type IIC
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
References:
Ontology: Human Disease   ( DOID:0110839 )
Relationships
is a type of:
OTHER Usher syndrome type 2C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADGRV1 Usher syndrome, type 2C 605472
Usher syndrome, type 2C, GPR98/PDZD7 digenic 605472
PDZD7 Usher syndrome, type IIC, GPR98/PDZD7 digenic 605472
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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