Metadata | |
---|---|
ID | DOID:0110831 |
Name | Usher syndrome type 1D |
Definition | An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/11138009 |
Xrefs | |
Synonyms |
USH1D [EXACT] Usher syndrome type ID [EXACT] |
Parent Relationships |
is_a digenic disease |
Subclass Logical Relationships |
has material basis in some digenic inheritance has material basis in some autosomal recessive inheritance |