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Preferred Name

OCULOPHARYNGODISTAL MYOPATHY 3
Synonyms

OPDM3
ID

http://purl.bioontology.org/ontology/OMIM/619473
altLabel

OPDM3
cui

C5561956
Gene Locus

1q21.1
Gene Symbol

ETM6

NIID

NOTCH2NLC

OPDM3
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003217

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU010474

http://purl.bioontology.org/ontology/OMIM/MTHU000786

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU004473

http://purl.bioontology.org/ontology/OMIM/MTHU074126

http://purl.bioontology.org/ontology/OMIM/MTHU074124

http://purl.bioontology.org/ontology/OMIM/MTHU074122

http://purl.bioontology.org/ontology/OMIM/MTHU006299

http://purl.bioontology.org/ontology/OMIM/MTHU000990

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU074121

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU032605

http://purl.bioontology.org/ontology/OMIM/MTHU001673

http://purl.bioontology.org/ontology/OMIM/MTHU001677

http://purl.bioontology.org/ontology/OMIM/MTHU000988

http://purl.bioontology.org/ontology/OMIM/MTHU036444

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU000422

http://purl.bioontology.org/ontology/OMIM/MTHU056664

http://purl.bioontology.org/ontology/OMIM/MTHU074123

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU000797

http://purl.bioontology.org/ontology/OMIM/MTHU034749

http://purl.bioontology.org/ontology/OMIM/MTHU003169

http://purl.bioontology.org/ontology/OMIM/MTHU033381

http://purl.bioontology.org/ontology/OMIM/MTHU074125

http://purl.bioontology.org/ontology/OMIM/MTHU000327

http://purl.bioontology.org/ontology/OMIM/MTHU068478

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU000195
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

619473
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

OCULOPHARYNGODISTAL MYOPATHY 3
Scope Statement

Usually adult onset [MISCELLANEOUS]

Slowly progressive [MISCELLANEOUS]

Caused by trinucleotide repeat expansion (GGC)n in the NOTCH2 N-terminal-like C gene (NOTCH2NLC, 618025.0001) [MOLECULAR BASIS]

Variable age at onset (range childhood to late adult) [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0081299 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0023671 Mondo Disease Ontology / Mondo疾病本体 LOOM