FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked reticulate pigmentary disorder ID (Ontology) DOID:0111834 (Human Disease)
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.
Also Known As "Partington disease" ; "X-linked reticulate pigmentary disorder with systemic manifestations"
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 Genes
 X-linked reticulate pigmentary disorder       1
 for disease ribbon | X-linked reticulate pigmentary disorder       1
 model of | X-linked reticulate pigmentary disorder       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease__
skin disease                    |
 |__pigmentation disease________|
                                X-linked reticulate pigmentary disorder  1 rec.
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Is a X-linked monogenic disease
pigmentation disease
Part of
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Synonyms
  • "Partington disease" EXACT
    "X-linked reticulate pigmentary disorder with systemic manifestations" EXACT
Secondary IDs
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MESH:C564461
MIM:301220
ORDO:85453
SNOMEDCT_US_2023_03_01:717224002
UMLS_CUI:C1845050