Preferred Name

congenital structural myopathy
Synonyms

centronuclear myopathy

Definitions

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.

ID

http://purl.obolibrary.org/obo/MONDO_0002921

altLabel

centronuclear myopathy

definition

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.

has_related_synonym

centronuclear myopathy

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5656

label

congenital structural myopathy

prefixIRI

MONDO:0002921

prefLabel

congenital structural myopathy

textual definition

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019952

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