Oculopharyngeal muscular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
OCULOPHARYNGEAL MUSCULAR DYSTROPHY
270MONDO:0008116
PABPN1 Causal
20301305
GenCC Orphanet
OCULOPHARYNGEAL MUSCULAR DYSTROPHY 1
164300MONDO:0958176
PABPN1 Causal — ClinVar HPO
OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2
620460C5830682MONDO:0958195
HNRNPA2B1 Causal
35484142
ClinVar Disgenet GWAS catalog HPO