{"orpha":717611,"name":"Capillary-venous malformation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CVM","Capillary-venulous malformation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717611/","orphanet_url":"https://www.orpha.net/en/disease/detail/717611","names":{"fr":{"name":"Malformation capillaire-veneuse","synonyms":["CVM"]},"de":{"name":"Kapillär-venöse Fehlbildung","synonyms":["CVM","Kapillär-venöse Malformation"]},"es":{"name":"Malformación capilar-venosa","synonyms":["MCV","Malformaciones capilar-venulosas"]},"it":{"name":"Malformazione capillare-venosa","synonyms":["CVM","Malformazione capillare-venulare"]},"nl":{"name":"Capillair-veneuze malformatie","synonyms":["Capillair-venuleuze malformatie","CVM","Malformaties van capillair en venule"]},"pt":{"name":"Capillary-venous malformation"},"pl":{"name":"Malformacja włośniczkowo-żylna","synonyms":["CVM","Capillary-venulous malformation"]},"cs":{"name":"Capillary-venous malformation","synonyms":["CVM","Capillary-venulous malformation"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":211240,"name":"Genetic vascular anomaly","classifications":[156]},{"orpha":723518,"name":"Isolated combined vascular malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"38880808[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]},{"symbol":"TEK","name":"TEK receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"38880808[PMID]","hgnc":"11724","ensembl":"ENSG00000120156","omim":"600221","loci":["9p21.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}