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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase | |
| P35354 | Prostaglandin G/H synthase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000653 | Sparse eyelashes |
| HP:0002231 | Sparse body hair |
| HP:0002209 | Sparse scalp hair |
| HP:0008070 | Sparse hair |
| HP:0001596 | Alopecia |
