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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: OMIM:606893
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: VASCULAR MALFORMATION OSSEOUS | ClinVar Annotator: match by term: Vascular malformation, primary intraosseous OMIM
ClinVar
PMID:11932989 PMID:25741868 PMID:27476657 NCBI chr 3:154,023,661...154,061,259
Ensembl chr 3:154,023,661...154,061,185
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      cardiovascular system disease 4755
        Cardiovascular Abnormalities 1202
          Vascular Malformations 91
            Primary Intraosseous Vascular Malformation 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Cardiovascular Abnormalities 1202
            Vascular Malformations 91
              Primary Intraosseous Vascular Malformation 1
paths to the root