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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:PHACE Association
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Accession:DOID:9003806 term browser browse the term
Synonyms:exact_synonym: PHACES association
 primary_id: MESH:C537892
 alt_id: OMIM:606519



show annotations for term's descendants           Sort by:
PHACE Association term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    syndrome 10118
      Neurocutaneous Syndromes 357
        PHACE Association 1
Path 2
Term Annotations click to browse term
  disease 18006
    disease of anatomical entity 15252
      nervous system disease 13275
        Neurologic Manifestations 9630
          sensory system disease 6622
            skin disease 3768
              Genetic Skin Diseases 1836
                ectodermal dysplasia 535
                  Neurocutaneous Syndromes 357
                    PHACE Association 1
paths to the root