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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 2
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Accession:DOID:9002861 term browser browse the term
Definition:An autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities.
Synonyms:exact_synonym: CMAVM2
 primary_id: OMIM:618196
For additional species annotation, visit the Alliance of Genome Resources.


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Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar
OMIM
PMID:25741868 PMID:28687708 PMID:28730721 PMID:29444212 PMID:30578106 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ClinVar PMID:28687708 NCBI chr12:22,434,845...22,451,265
Ensembl chr12:22,434,814...22,451,263
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    sensory system disease 5580
      skin disease 2943
        Skin Abnormalities 763
          Port-Wine Stain 6
            Capillary Malformation-Arteriovenous Malformation 5
              Capillary Malformation-Arteriovenous Malformation 2 2
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        Congenital Abnormalities 5555
          Cardiovascular Abnormalities 1134
            Vascular Malformations 78
              arteriovenous malformation 48
                Capillary Malformation-Arteriovenous Malformation 5
                  Capillary Malformation-Arteriovenous Malformation 2 2
paths to the root