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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;   RDO:9000978
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:615522
ClinVar Annotator: match by term: Cole disease
OMIM
ClinVar
PMID:19380683 PMID:24075184 PMID:25741868 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      skin disease 2711
        Genetic Skin Diseases 892
          palmoplantar keratosis 29
            Cole Disease 1
Path 2
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        acquired metabolic disease 2752
          mineral metabolism disease 433
            calcium metabolism disease 272
              calcinosis 241
                Cole Disease 1
paths to the root