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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
 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 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
OMIM
ClinVar
CTD
PMID:7783168 PMID:7833915 PMID:8980225 PMID:10369874 PMID:19079259 PMID:19888299 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      skin disease 2775
        multiple cutaneous and mucosal venous malformations 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Cardiovascular Abnormalities 1128
            Vascular Malformations 76
              arteriovenous malformation 52
                multiple cutaneous and mucosal venous malformations 1
paths to the root