Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive
0.300 GermlineCausalMutation disease ORPHANET ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 23312594 2013