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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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0700223	OBA	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0700223	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0700223	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0700223	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0700223	OBA	LOOM
http://purl.obolibrary.org/obo/MONDO_0700223	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0700223	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0700223	EFO	LOOM