Search Ontology:
Human Disease

X-linked reticulate pigmentary disorder

Term ID
DOID:0111834
Synonyms
  • 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. https://www.ncbi.nlm.nih.gov/pubmed/27019227
References
Ontology
Human Disease   ( DOID:0111834 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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