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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
 broad_synonym: EPHB4-ASSOCIATED VASCULAR MALFORMATION SPECTRUM;   EPHB4-RELATED CONDITION;   EPHB4-RELATED DISORDERS
 primary_id: MIM:618196



show annotations for term's descendants           Sort by:
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: EPHB4-related condition | ClinVar Annotator: match by term: EPHB4-related disorders OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21348050 PMID:25741868 More... NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 ClinVar PMID:25741868 PMID:28492532 PMID:28687708 NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      skin disease 4319
        Skin Abnormalities 1321
          Port-Wine Stain 9
            Capillary Malformation-Arteriovenous Malformation 7
              Capillary Malformation-Arteriovenous Malformation 2 2
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            skin disease 4319
              Skin Abnormalities 1321
                Port-Wine Stain 9
                  Capillary Malformation-Arteriovenous Malformation 7
                    Capillary Malformation-Arteriovenous Malformation 2 2
paths to the root