Human genes for X-linked reticulate pigmentary disorder
X-linked reticulate pigmentary disorder [DOID:0111834]
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.
Synonyms: X-linked reticulate pigmentary disorder, DOID:0111834, Xlinked reticulate pigmentary disorder, X-linked reticulate pigmentary disease, X-linked reticulate pigmentary syndrome ...