autosomal dominant woolly hair

Term ID

DOID:0111573

Synonyms

• ADWH

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

References

• OMIM:194300
• SNOMEDCT_US_2022_07_31:403794008

Ontology

Human Disease   ( DOID:0111573 )