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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



show annotations for term's descendants           Sort by:
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
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 chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LOC644285 uncharacterized LOC644285 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:28492532 NCBI chr 5:87,318,415...87,323,628 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
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 chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    sensory system disease 24590
      skin disease 12818
        Skin Abnormalities 1834
          Port-Wine Stain 11
            Capillary Malformation-Arteriovenous Malformation 9
              Capillary Malformation-Arteriovenous Malformation 1 5
Path 2
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      nervous system disease 58665
        Neurologic Manifestations 35771
          sensory system disease 24590
            skin disease 12818
              Skin Abnormalities 1834
                Port-Wine Stain 11
                  Capillary Malformation-Arteriovenous Malformation 9
                    Capillary Malformation-Arteriovenous Malformation 1 5
paths to the root