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MIRAGE
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
- MGI genotype (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3SY84 | Keratin, type II cytoskeletal 71 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002231 | Sparse body hair |
| HP:0000615 | Abnormal pupil morphology |
| HP:0010719 | Abnormality of hair texture |
| HP:0000486 | Strabismus |
| HP:0005338 | Sparse lateral eyebrow |
| HP:0002217 | Slow-growing hair |
| HP:0000479 | Abnormal retinal morphology |
| HP:0002299 | Brittle hair |
| HP:0002213 | Fine hair |
| HP:0005599 | Hypopigmentation of hair |
