Experimental Factor Ontology

Last uploaded: April 15, 2024
Preferred Name

neuromuscular disease

Synonyms

nerve and muscle disorder

neuromuscular disease

Definitions

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

ID

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

closeMatch

http://identifiers.org/meddra/10029323

database_cross_reference

MeSH:D009468

DOID:440

ICD9:358

MedDRA:10029323

ICD9:358.9

GARD:18888

MESH:D009468

Orphanet:68381

MONDO:0019056

UMLS:C0027868

definition

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

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

disease disrupts

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

exactMatch

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

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

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#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

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

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

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

label

neuromuscular disease

notation

EFO:1001902

prefLabel

neuromuscular disease

subClassOf

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

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

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