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MIRAGE
hypotrichosis 7
Summary
- Synonym
-
- HYPT7
- LAH2
- hypotrichosis, localized, autosomal recessive 2
- total hyptrichosis, Mari type
- Definition
- A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2.
- Super Class
- autosomal recessive disease hypotrichosis
External Links
- Disease Ontology
- DOID:0110704
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WWY8 | Lipase member H |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010719 | Abnormality of hair texture |
| HP:0005599 | Hypopigmentation of hair |
| HP:0008070 | Sparse hair |
| HP:0001596 | Alopecia |
| HP:0000653 | Sparse eyelashes |
| HP:0002209 | Sparse scalp hair |
| HP:0000164 | Abnormality of the dentition |
| HP:0002215 | Sparse axillary hair |
| HP:0001597 | Abnormality of the nail |
| HP:0000971 | Abnormal sweat gland morphology |
