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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:multiple cutaneous and mucosal venous malformations
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Accession:DOID:0050792 term browser browse the term
Definition:A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. (DO)
Synonyms:exact_synonym: VMCM;   VMCM1;   mucocutaneous venous malformations
 narrow_synonym: CUTANEOUS VENOUS MALFORMATION
 primary_id: MESH:C563977
 alt_id: OMIM:600195
 xref: ORDO:2451
For additional species annotation, visit the Alliance of Genome Resources.



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multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Cutaneous venous malformation ClinVar NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
JBrowse link
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by OMIM:600195
ClinVar Annotator: match by term: Multiple Cutaneous and Mucosal Venous Malformations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations
OMIM
ClinVar
CTD
PMID:7783168 PMID:7833915 PMID:8980225 PMID:10369874 PMID:19079259 More... NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        multiple cutaneous and mucosal venous malformations 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Cardiovascular Abnormalities 1145
            Vascular Malformations 79
              arteriovenous malformation 49
                multiple cutaneous and mucosal venous malformations 2
paths to the root