Disease phenotype	OMIM	Gene symbol (chromosome) protein
Oculopharyngeal muscular dystorphy	164300	PABPN1 (14q11.2-q13) poly(A) binding protein, nuclear 1
Oculopharyngeal muscular dystrophy, autosomal recessive	257950	PABPN1 (14q11.2-q13) poly(A) binding protein, nuclear 1
Olivopontocerebellar atrophy I	164400	ATXN1 (6p23) ataxin 1
Olivopontocerebellar atrophy II	183090	ATXN2 (12q24.1) ataxin 2
Olivopontocerebellar atrophy III	164500	ATXN7 (3p21.1-p12) ataxin 7
optic atrophy 1 and deafness	125250	OPA1 (3q28-q29) mitochondrial dynamin-like GTPase
Ossification of the posterior longitudinal spinal ligaments	602475	COL6A1 (21q22.3) alpha 1 type VI collagen