OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Disease: Chorioretinal atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.110 AlteredExpression disease BEFREE Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by chorioretinal atrophy due to deficiency of the enzyme ornithine aminotransferase that can be complicated by intraretinal cystic spaces. 30335551 2018
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.110 Biomarker disease HPO