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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Neurologic Manifestations (D009461)
..Starting node ..Neuromuscular Manifestations (D020879)
Child Nodes:
........Fasciculation (D005207) 1
........Muscle Cramp (D009120) 3
........Muscle Hypertonia (D009122) 24
........Muscle Hypotonia (D009123) 30
........Muscle Weakness (D018908) 5
........Muscular Atrophy (D009133) 16
........Myokymia (D020385) 5
........Myotonia (D009222) 2
........Spasm (D013035) 8
........Tetany (D013746)
Sister Nodes:
..Cerebrospinal Fluid Leak (D065634) 2
..Decerebrate State (D003655)
..Diabetes Mellitus, Permanent Neonatal, With Neurologic Features (C563424)
..Dyskinesias (D020820) 199
..Gait Disorders, Neurologic (D020233) 2
..Meningism (D008580)
..Neurobehavioral Manifestations (D019954) 701
..Neurogenic Inflammation (D020078)
..Neuromuscular Manifestations (D020879) 103
..Orthostatic Intolerance (D054971) 8
..Pain (D010146) 55
..Paralysis (D010243) 83
..Paresis (D010291) 10
..Psychophysiologic Disorders (D011602)
..Pupil Disorders (D011681) 20
..Reflex, Abnormal (D012021) 5
..Seizures (D012640) 40
..Sensation Disorders (D012678) 478
..Sleep Disorders (D012893) 41
..Susac Syndrome (D055955)
..Urinary Bladder, Neurogenic (D001750)
..Vertigo (D014717) 5
..Voice Disorders (D014832) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7979
Name:	Neuromuscular Manifestations
Definition:	Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves.
Alternative IDs:
ParentIDs:	MESH:D009461
TreeNumbers:	C10.597.613 \|C23.888.592.608
Synonyms:	Disease Manifestation, Muscle \|Disease Manifestations, Muscle \|Manifestation, Muscle Disease \|Manifestation, Neuromuscular \|Manifestations, Muscle Disease \|Manifestations, Neuromuscular \|Muscle Disease Manifestation \|Muscle Disease Manifestations \|Neuromuscular
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D020879 MeSH: D020879 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants