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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:Primary Intraosseous Vascular Malformation
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Accession:DOID:9007873 term browser browse the term
Synonyms:exact_synonym: VMOS;   VMPI;   Vascular Malformation Osseous;   intraosseous hemangioma
 primary_id: MESH:C564648
 alt_id: MIM:606893


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Primary Intraosseous Vascular Malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmo2 engulfment and cell motility 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Vascular malformation, primary intraosseous		 OMIM
CTD
ClinVar		 PMID:11932989 PMID:25741868 PMID:27476657 PMID:28492532 NCBI chr 3:154,023,661...154,061,259
Ensembl chr 3:154,023,661...154,061,185 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      cardiovascular system disease 5538
        Cardiovascular Abnormalities 1604
          Vascular Malformations 130
            Primary Intraosseous Vascular Malformation 1
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Cardiovascular Abnormalities 1604
            Vascular Malformations 130
              Primary Intraosseous Vascular Malformation 1
paths to the root