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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 that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. (DO)
Synonyms:exact_synonym: VMCM;   VMCM1;   cutaneomucosal venous malformation;   mucocutaneous venous malformations
 narrow_synonym: CUTANEOUS VENOUS MALFORMATION;   SEGMENTAL UNDERGROWTH ASSOCIATED WITH VENOUS MALFORMATION WITHOUT CAPILLARY COMPONENT
 broad_synonym: TEK-RELATED CONDITION
 primary_id: MESH:C563977
 alt_id: OMIM:600195
 xref: ORDO:2451


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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 18969
    sensory system disease 6961
      skin disease 3968
        multiple cutaneous and mucosal venous malformations 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      benign neoplasm 2230
        organ system benign neoplasm 1302
          cardiovascular organ benign neoplasm 131
            hemangioma 116
              arteriovenous malformation 63
                multiple cutaneous and mucosal venous malformations 2
paths to the root