Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

neuromuscular disease
Synonyms

nerve and muscle disorder

neuromuscular disease

Definitions

Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions A neuropathy that affect the nerves that control the voluntary muscles.

ID

http://www.ebi.ac.uk/efo/EFO_1001902

closeMatch

http://identifiers.org/meddra/10029323

curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0019056

database_cross_reference

MedDRA:10029323

MESH:D009468

UMLS:C0027868

NANDO:1100001

MEDGEN:10323

MONDO:0019056

Orphanet:68381

MeSH:D009468

NANDO:2100214

DOID:440

ICD9:358

ICD9:358.9

definition

Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions

A neuropathy that affect the nerves that control the voluntary muscles.

disease disrupts

http://purl.obolibrary.org/obo/GO_0050905

exactMatch

http://purl.obolibrary.org/obo/EFO_1001902

http://linkedlifedata.com/resource/umls/id/C0027868

http://purl.obolibrary.org/obo/Orphanet_68381

http://identifiers.org/medgen/10323

http://purl.obolibrary.org/obo/DOID_440

http://identifiers.org/mesh/D009468

has_exact_synonym

nerve and muscle disorder

neuromuscular disease

id

EFO:1001902

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#clingen

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

neuromuscular disease

notation

EFO:1001902

preferred label

neuromuscular disease

prefLabel

neuromuscular disease

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000618

http://www.ebi.ac.uk/efo/EFO_0004149

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