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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple cutaneous and mucosal venous malformations
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Accession:DOID:0050792 term browser browse the term
Definition:An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. (DO)
Synonyms:exact_synonym: Mucocutaneous Venous Malformations;   VMCM;   VMCM1
 primary_id: MESH:C563977
 alt_id: OMIM:600195;   RDO:0013087
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multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tek TEK receptor tyrosine kinase JBrowse link 5 113,725,717 113,852,799 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      skin disease 2461
        multiple cutaneous and mucosal venous malformations 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          Cardiovascular Abnormalities 903
            Vascular Malformations 70
              arteriovenous malformation 47
                multiple cutaneous and mucosal venous malformations 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.