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X-linked reticulate pigmentary disorder
Summary
- Synonym
-
- Partington disease
- X-linked reticulate pigmentary disorder with systemic manifestations
- Definition
- A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3.
- Super Class
- X-linked monogenic disease pigmentation disease
External Links
- Disease Ontology
- DOID:0111834
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
