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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:Capillary Malformation-Arteriovenous Malformation 1
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Accession:DOID:9008640 term browser browse the term
Synonyms:exact_synonym: CMAVM1
 broad_synonym: RASA1-RELATED CONDITION
 primary_id: MIM:608354


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Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 More... NCBI chrNW_004936469:5,933,163...5,952,190
Ensembl chrNW_004936469:5,935,131...5,952,460
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More... NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 More... NCBI chrNW_004936469:5,839,560...5,933,049
Ensembl chrNW_004936469:5,839,743...5,932,021
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    sensory system disease 6687
      skin disease 3922
        Skin Abnormalities 1249
          Port-Wine Stain 9
            Capillary Malformation-Arteriovenous Malformation 7
              Capillary Malformation-Arteriovenous Malformation 1 4
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      nervous system disease 12611
        Neurologic Manifestations 9422
          sensory system disease 6687
            skin disease 3922
              Skin Abnormalities 1249
                Port-Wine Stain 9
                  Capillary Malformation-Arteriovenous Malformation 7
                    Capillary Malformation-Arteriovenous Malformation 1 4
paths to the root