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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
 primary_id: OMIM:608354
For additional species annotation, visit the Alliance of Genome Resources.


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 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 PMID:29171923 PMID:29891884 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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 1 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 1 2
paths to the root