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autosomal recessive woolly hair 3
Summary
- Synonym
-
- ARWH3
- Definition
- A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2.
- Super Class
- autosomal recessive disease familial woolly hair syndrome
External Links
- Disease Ontology
- DOID:0111574
- Mondo Disease Ontology
- OMIM
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000518 | Cataract |
| HP:0002224 | Woolly hair |
