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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 the POLA1 gene on chromosome Xp22.1-p21.3. (DO)
Synonyms:exact_synonym: PDR;   Partington disease;   Pigmentary disorder, reticulate, with systemic manifestations, X-linked;   X-linked reticulate pigmentary disorder with systemic manifestations;   XLPDR;   familial cutaneous amyloidosis;   reticulate pigmentary disorder with systemic manifestations
 broad_synonym: POLA1-RELATED CONDITION
 primary_id: OMIM:301220
 xref: MESH:C564461;   ORDO:85453


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POLA1-related condition | ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      skin disease 3960
        Genetic Skin Diseases 1850
          X-linked reticulate pigmentary disorder 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              pigmentation disease 277
                X-linked reticulate pigmentary disorder 1
paths to the root