Multiorgan Venous and Lymphatic Defect Syndrome

Preferred Label : Multiorgan Venous and Lymphatic Defect Syndrome;

NCIt synonyms : MOVLD;

NCIt definition : A genetic condition, caused by mutation(s) in the DDX24 gene, encoding ATP-dependent RNA helicase DDX24. It is associated with vascular stenosis of portal and hepatic veins and/or lymphatic vessels.;

NCI Metathesaurus CUI : CL1778651;

Details

Origin ID

C186307;

UMLS CUI

C5666816;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- DDX24 Gene [NCIt concept]

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