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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

OMIM:194300

SNOMEDCT_US_2022_07_31:403794008

Synonyms

ADWH [EXACT]

Parent Relationships

is_a familial woolly hair syndrome

is_a autosomal dominant disease

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