RIEG2, Rieger syndrome 2, 6012

N. diseases: 38; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432330
Disease: Erythrokeratoderma
Erythrokeratoderma
0.010 GeneticVariation disease BEFREE Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. 15909066 2005