Search Ontology:
Human Disease
Usher syndrome type 1C
- Term ID
- DOID:0110830
- Synonyms
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- USH1C
- Usher syndrome type I Acadian variety
- Usher syndrome type IC
- Definition
- An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/10973247
- References
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- ICD10CM:H35.5
- MIM:276904
- Ontology
- Human Disease ( DOID:0110830 )
- is a type of
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