Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

OCULOPHARYNGEAL MUSCULAR DYSTROPHY

Synonyms

MUSCULAR DYSTROPHY, OCULOPHARYNGEAL

ID

http://purl.bioontology.org/ontology/OMIM/164300

altLabel

MUSCULAR DYSTROPHY, OCULOPHARYNGEAL

OPMD

cui

C0270952

Gene Locus

14q11.2-q13

Gene Symbol

PABP2

PABPN1

PAB2

Has manifestation

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

257950

notation

164300

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

OCULOPHARYNGEAL MUSCULAR DYSTROPHY

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D039141 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_11719 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/ICD10CM/G71.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84942 National Cancer Institute Thesaurus LOOM