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hypotrichosis 13
Summary
- Synonym
-
- Hypt13
- hypotrichosis with woolly hair
- Definition
- A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13.
- Super Class
- autosomal dominant disease hypotrichosis
External Links
- Disease Ontology
- DOID:0110710
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000518 | Cataract |
| HP:0002224 | Woolly hair |
