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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;   SEGMENTAL UNDERGROWTH ASSOCIATED WITH VENOUS MALFORMATION WITHOUT CAPILLARY COMPONENT
 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 PMID:33912852 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component
OMIM
CTD
ClinVar
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 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 18215
    sensory system disease 6435
      skin disease 3794
        multiple cutaneous and mucosal venous malformations 2
Path 2
Term Annotations click to browse term
  disease 18215
    disease of cellular proliferation 7349
      benign neoplasm 2095
        organ system benign neoplasm 1170
          cardiovascular organ benign neoplasm 125
            hemangioma 110
              arteriovenous malformation 60
                multiple cutaneous and mucosal venous malformations 2
paths to the root