Global Code Book Ontology

Last uploaded: May 2, 2024

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
creator	https://orcid.org/0000-0001-5208-3432
IAO_0000115	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
label	hereditary neuromuscular disease
notation	MONDO:0100546
prefLabel	hereditary neuromuscular disease
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100545 http://purl.obolibrary.org/obo/MONDO_0019056

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100546	CCONT	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	CCONT	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