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hypotrichosis 7
Summary
- Synonym
-
- Hypt7
- Lah2
- hypotrichosis, localized, autosomal recessive 2
- total Mari type hypotrichosis,
- 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
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 398885 | liph.L | lipase, member H L homeolog | Xenopus laevis (African clawed frog) | |
| 447716 | liph.S | lipase, member H S homeolog | Xenopus laevis (African clawed frog) | |
| 496511 | liph | lipase, member H | Xenopus tropicalis (tropical clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002224 | Woolly hair |
| HP:0000615 | Abnormal pupil morphology |
| HP:0005338 | Sparse lateral eyebrow |
| HP:0000486 | Strabismus |
| HP:0002231 | Sparse body hair |
| HP:0002213 | Fine hair |
| HP:0000479 | Abnormal retinal morphology |
| HP:0002217 | Slow-growing hair |
| HP:0002299 | Brittle hair |
| HP:0000518 | Cataract |
