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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:X-linked reticulate pigmentary disorder
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Accession:DOID:0111834 term browser browse the term
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. (DO)
Synonyms:exact_synonym: PDR;   Partington disease;   X-linked reticulate pigmentary disorder with systemic manifestations;   XLPDR;   familial cutaneous amyloidosis;   reticulate pigmentary disorder with systemic manifestations
 primary_id: MESH:C564461
 alt_id: OMIM:301220
 xref: ORDO:85453
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked reticulate pigmentary disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder OMIM
ClinVar
PMID:25741868 PMID:27019227 PMID:28492532 NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    sensory system disease 6520
      skin disease 3877
        pigmentation disease 475
          X-linked reticulate pigmentary disorder 1
Path 2
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        genetic disease 11365
          inherited metabolic disorder 4713
            Familial Amyloidosis 31
              X-linked reticulate pigmentary disorder 1
paths to the root