Global Code Book Ontology

Last uploaded: May 2, 2024
Preferred Name

hereditary skeletal muscle disorder
Synonyms

genetic muscular disease

genetic muscle disease

genetic muscular disorder

hereditary muscle disorder

genetic muscle disorder

Definitions

An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.

ID

http://purl.obolibrary.org/obo/MONDO_0700223

hasExactSynonym

genetic muscular disease

genetic muscle disease

genetic muscular disorder

hereditary muscle disorder

genetic muscle disorder

IAO_0000115

An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5658

id

MONDO:0700223

inSubset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#inferred_rare

label

hereditary skeletal muscle disorder

notation

MONDO:0700223

prefLabel

hereditary skeletal muscle disorder

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020120

http://purl.obolibrary.org/obo/MONDO_0003847

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