Disease: Hennekam lymphangiectasia-lymphedema syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340834
Disease: Hennekam lymphangiectasia-lymphedema syndrome
Hennekam lymphangiectasia-lymphedema syndrome 		0.310 GeneticVariation disease BEFREE Here, we report an additional case of HKLLS that appears to be associated with homozygous nonsense mutation of ADAMTS3. 30450763 2018
CUI: C0340834
Disease: Hennekam lymphangiectasia-lymphedema syndrome
Hennekam lymphangiectasia-lymphedema syndrome 		0.310 GermlineCausalMutation disease ORPHANET Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. 28985353 2017