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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:CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME
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Accession:DOID:9002640 term browser browse the term
Definition:This is a group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions.
Synonyms:exact_synonym: CAMS
 alt_id: MONDO:0015405


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CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna14 guanine nucleotide binding protein, alpha 14 ISO ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome ClinVar NCBI chr19:16,413,031...16,590,706
Ensembl chr19:16,413,126...16,588,184 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    syndrome 10387
      CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      cardiovascular system disease 4568
        vascular disease 3244
          Vascular Tissue Neoplasms 182
            hemangioma 116
              arteriovenous malformation 63
                arteriovenous malformations of the brain 33
                  CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME 1
paths to the root