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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:Grange Syndrome
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Accession:DOID:9007978 term browser browse the term
Synonyms:exact_synonym: GRNG;   Grange occlusive arterial syndrome;   YY1AP1-RELATED CONDITION;   progressive arterial occlusive disease with hypertension, heart defects, bone fragility, and brachysyndactyly
 primary_id: MESH:C566529
 alt_id: MIM:602531


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Grange Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Grange syndrome | ClinVar Annotator: match by term: YY1AP1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      Grange Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              dysostosis 637
                synostosis 402
                  syndactyly 152
                    Grange Syndrome 1
paths to the root