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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:Darier Disease, Segmental
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Accession:DOID:9001636 term browser browse the term
Synonyms:primary_id: MESH:C565126


show annotations for term's descendants           Sort by:
Darier Disease, Segmental term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Darier disease, segmental ClinVar PMID:11121153 NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    sensory system disease 7336
      skin disease 4312
        keratosis 188
          keratosis follicularis 5
            Darier Disease, Segmental 1
Path 2
Term Annotations click to browse term
  disease 19106
    Pathological Conditions, Signs and Symptoms 13615
      Signs and Symptoms 11199
        Neurologic Manifestations 10433
          sensory system disease 7336
            skin disease 4312
              Genetic Skin Diseases 1881
                keratosis follicularis 5
                  Darier Disease, Segmental 1
paths to the root