Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Myopathy, myofibrillar, 2
Synonyms

MFM2

Definitions

(MFM2) - A neuromuscular disorder that results in weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients.

ID

http://identifiers.org/omim/608810

altLabel

MFM2

definition

(MFM2) - A neuromuscular disorder that results in weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients.

id

OMIM:608810

notation

OMIM:608810

prefLabel

Myopathy, myofibrillar, 2

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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