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 14875
    sensory system disease 4246
      skin disease 2253
        multiple cutaneous and mucosal venous malformations 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Cardiovascular Abnormalities 780
            Vascular Malformations 67
              arteriovenous malformation 46
                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.