GOLPH3, golgi phosphoprotein 3, 64083

N. diseases: 140; N. variants: 1
Disease: Skin lesion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.010 GeneticVariation group BEFREE Microphthalmia with linear skin defects syndrome (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by microphthalmia or other ocular anomalies and skin lesions limited to the face and neck. 23401659 2013