Metadata | |
---|---|
ID | DOID:0111573 |
Name | autosomal dominant woolly hair |
Definition | A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13. https://www.ncbi.nlm.nih.gov/pubmed/20346438 |
Xrefs |
SNOMEDCT_US_2022_07_31:403794008 |
Synonyms |
ADWH [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |