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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:Cole Disease
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Accession:DOID:9000869 term browser browse the term
Synonyms:exact_synonym: COLED;   GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION
 primary_id: OMIM:615522
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
Cole Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Cole disease OMIM
ClinVar
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      skin disease 3880
        pigmentation disease 475
          Hypopigmentation 153
            Cole Disease 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Genetic Skin Diseases 1583
                palmoplantar keratosis 36
                  Cole Disease 1
paths to the root