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Metadata
ID DOID:0111834
Name X-linked reticulate pigmentary disorder
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 POLA1 on chromosome Xp22.1-p21.3.
https://www.ncbi.nlm.nih.gov/pubmed/27019227
Xrefs

MESH:C564461

OMIM:301220

ORDO:85453

UMLS_CUI:C1845050

Synonyms

Partington disease [EXACT]

PDR [EXACT]

X-linked reticulate pigmentary disorder with systemic manifestations [EXACT]

Parent Relationships

is_a pigmentation disease

is_a X-linked monogenic disease

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