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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


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Cole Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION		 CTD
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      skin disease 3960
        pigmentation disease 277
          Hypopigmentation 155
            Cole Disease 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              Genetic Skin Diseases 1850
                palmoplantar keratosis 44
                  Cole Disease 1
paths to the root