Metadata | |
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ID | DOID:0110830 |
Name | Usher syndrome type 1C |
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 |
Xrefs | |
Synonyms |
USH1C [EXACT] Usher syndrome type I Acadian variety [EXACT] Usher syndrome type IC [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |