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hypotrichosis 1
Summary
- Synonym
-
- Hhs
- Hts
- Hypt1
- hereditary generalized hypotrichosis simplex
- Definition
- A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22.
- Super Class
- autosomal dominant disease hypotrichosis
External Links
- Disease Ontology
- DOID:0110698
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48449 | Lanosterol synthase | |
| Q14435 | Polypeptide N-acetylgalactosaminyltransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001596 | Alopecia |
| HP:0002231 | Sparse body hair |
| HP:0000653 | Sparse eyelashes |
| HP:0008070 | Sparse hair |
| HP:0002209 | Sparse scalp hair |
