Cell Culture Ontology

Last uploaded: July 23, 2014

Preferred Name	hereditary neuromuscular disease
Synonyms
Definitions	A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.
ID	http://purl.obolibrary.org/obo/MONDO_0100546
definition	A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5952
id	MONDO:0100546
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare
label	hereditary neuromuscular disease
notation	MONDO:0100546
preferred label	hereditary neuromuscular disease
prefLabel	hereditary neuromuscular disease
terms_creator	https://orcid.org/0000-0001-5208-3432
subClassOf	http://www.ebi.ac.uk/efo/EFO_1001902 http://purl.obolibrary.org/obo/MONDO_0100545

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100546	GCBO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100546	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100546	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100546	OBA	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0100546	GCBO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100546	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100546	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100546	OBA	LOOM