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hypotrichosis 14
Summary
- Definition
- A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.
- Super Class
- hypotrichosis
External Links
- Disease Ontology
- DOID:0080582
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48449 | Lanosterol synthase |
- 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 |
| HP:0002221 | Absent axillary hair |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003577 | Congenital onset |
| HP:0010764 | Short eyelashes |
| HP:0002225 | Sparse pubic hair |
