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atrichia with papular lesions
Summary
- Synonym
-
- papular atrichia
- Definition
- An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3.
- Super Class
- alopecia autosomal recessive disease
External Links
- Disease Ontology
- DOID:0060689
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07741 | Adenine phosphoribosyltransferase | |
| P08758 | Annexin A5 | |
| P35573 | Glycogen debranching enzyme |
