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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_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745
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_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
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_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    sensory system disease 6536
      skin disease 3822
        Skin Abnormalities 1218
          Port-Wine Stain 9
            Capillary Malformation-Arteriovenous Malformation 7
              Capillary Malformation-Arteriovenous Malformation 1 4
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        Neurologic Manifestations 9170
          sensory system disease 6536
            skin disease 3822
              Skin Abnormalities 1218
                Port-Wine Stain 9
                  Capillary Malformation-Arteriovenous Malformation 7
                    Capillary Malformation-Arteriovenous Malformation 1 4
paths to the root