Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
0.110 Biomarker disease BEFREE ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. 23591992 2013
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
0.110 Biomarker disease HPO