OCULOPHARYNGEAL MUSCULAR DYSTROPHY
MUSCULAR DYSTROPHY, OCULOPHARYNGEAL
http://purl.bioontology.org/ontology/OMIM/164300
OPMD
C0270952
14q11.2-q13
PABP2
PABPN1
PAB2
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU036443
http://purl.bioontology.org/ontology/OMIM/MTHU016562
http://purl.bioontology.org/ontology/OMIM/MTHU016568
http://purl.bioontology.org/ontology/OMIM/MTHU016566
http://purl.bioontology.org/ontology/OMIM/MTHU004203
http://purl.bioontology.org/ontology/OMIM/MTHU016576
http://purl.bioontology.org/ontology/OMIM/MTHU000990
http://purl.bioontology.org/ontology/OMIM/MTHU016572
http://purl.bioontology.org/ontology/OMIM/MTHU016570
http://purl.bioontology.org/ontology/OMIM/MTHU016564
http://purl.bioontology.org/ontology/OMIM/MTHU016580
http://purl.bioontology.org/ontology/OMIM/MTHU016574
http://purl.bioontology.org/ontology/OMIM/MTHU000988
http://purl.bioontology.org/ontology/OMIM/MTHU027303
http://purl.bioontology.org/ontology/OMIM/MTHU026464
http://purl.bioontology.org/ontology/OMIM/MTHU016565
http://purl.bioontology.org/ontology/OMIM/MTHU016563
http://purl.bioontology.org/ontology/OMIM/MTHU016569
http://purl.bioontology.org/ontology/OMIM/MTHU016567
http://purl.bioontology.org/ontology/OMIM/MTHU016573
http://purl.bioontology.org/ontology/OMIM/MTHU016579
http://purl.bioontology.org/ontology/OMIM/MTHU016577
http://purl.bioontology.org/ontology/OMIM/MTHU000440
http://purl.bioontology.org/ontology/OMIM/MTHU016571
Phenotype description, molecular basis known.
257950
164300
3
pound
T047