neuromuscular disease
MONDO:0019056Mondo
Findings
No curated finding names neuromuscular disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0019056), read 2026-09-29. CC BY 4.0.
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLEKHG5HGNC:29105
- Definitive · ClinGen · Autosomal recessive · 2023
- RAPSNHGNC:9863
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- TRPV4HGNC:18083
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- DCAF13HGNC:24535
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: neuromuscular disease
- Also called
- nerve and muscle disorder