Mondo Disease Ontology

Last uploaded: November 25, 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

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-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

label

hereditary neuromuscular disease

notation

MONDO:0100546

prefLabel

hereditary neuromuscular disease

terms_creator

https://orcid.org/0000-0001-5208-3432

treeView

http://purl.obolibrary.org/obo/MONDO_0100545

http://purl.obolibrary.org/obo/MONDO_0019056

subClassOf

http://purl.obolibrary.org/obo/MONDO_0100545

http://purl.obolibrary.org/obo/MONDO_0019056

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