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disease > congenital disease > malformation > Hennekam syndrome
disease > genetic disease > hereditary disease > Hennekam syndrome
disease > complex syndrome > Hennekam syndrome
disease > developmental disorder > mental retardation > Hennekam syndrome
disease > disability > mental retardation > Hennekam syndrome
disease > cardiovascular disease > lymphatic disease > Hennekam syndrome

Terme préférentiel

Hennekam syndrome  

Définition(s)

  • Hennekam syndrome also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome, is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".Hennekam Syndrome is subdivided according to the causative genetic lesion, most (or all) of which are affecting the VEGF-C/VEGFR-3 signaling pathway: (Wikipedia)

Concept(s) générique(s)

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URI

http://data.loterre.fr/ark:/67375/VH8-XVNKP097-D

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020