Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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



show annotations for term's descendants           Sort by:
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 21128
    sensory system disease 6939
      skin disease 3960
        multiple cutaneous and mucosal venous malformations 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      benign neoplasm 2228
        organ system benign neoplasm 1301
          cardiovascular organ benign neoplasm 131
            hemangioma 116
              arteriovenous malformation 63
                multiple cutaneous and mucosal venous malformations 2
paths to the root