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Disease association ontology term - MONDO:0019056 - neuromuscular disease

Term summary

ID
MONDO:0019056
Name
neuromuscular disease
Ontology or CV name
Disease association
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.

Parents

Annotation

Disease association

MONDO:0008453 - adult-onset proximal spinal muscular atrophy, autosomal dominant

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MONDO:0971004 - amyloidosis, hereditary systemic 1

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MONDO:0004976 - amyotrophic lateral sclerosis

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MONDO:0859529 - amyotrophic lateral sclerosis 27, juvenile

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MONDO:0007103 - amyotrophic lateral sclerosis type 1

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MONDO:0012945 - amyotrophic lateral sclerosis type 11

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MONDO:0010459 - amyotrophic lateral sclerosis type 15

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MONDO:0013715 - amyotrophic lateral sclerosis type 16

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MONDO:0014531 - amyotrophic lateral sclerosis type 22

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MONDO:0011223 - amyotrophic lateral sclerosis type 4

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MONDO:0012077 - amyotrophic lateral sclerosis type 8

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MONDO:0008076 - amyotrophic neuralgia

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MONDO:0014557 - ataxia - oculomotor apraxia type 4

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MONDO:0014711 - autosomal dominant Charcot-Marie-Tooth disease type 2W

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MONDO:0008026 - autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

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MONDO:0021018 - autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

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MONDO:0012034 - autosomal dominant limb-girdle muscular dystrophy type 1F

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MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

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MONDO:0014702 - autosomal recessive complex spastic paraplegia type 9B

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MONDO:0011436 - autosomal recessive distal spinal muscular atrophy 1

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MONDO:0011585 - autosomal recessive distal spinal muscular atrophy 2

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MONDO:0012248 - autosomal recessive limb-girdle muscular dystrophy type 2K

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MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N

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MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T

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MONDO:0018422 - autosomal recessive spastic paraplegia type 70

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MONDO:0014975 - autosomal recessive spastic paraplegia type 78

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MONDO:0004183 - axonal neuropathy

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MONDO:0020730 - carpal tunnel syndrome 1

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MONDO:0014455 - cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

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MONDO:0044720 - cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

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MONDO:0015626 - Charcot-Marie-Tooth disease

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MONDO:0011687 - Charcot-Marie-Tooth disease axonal type 2F

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MONDO:0012096 - Charcot-Marie-Tooth disease axonal type 2L

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MONDO:0013212 - Charcot-Marie-Tooth disease axonal type 2N

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MONDO:0013644 - Charcot-Marie-Tooth disease axonal type 2O

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MONDO:0014511 - Charcot-Marie-Tooth disease axonal type 2S

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MONDO:0014566 - Charcot-Marie-Tooth disease axonal type 2U

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MONDO:0012012 - Charcot-Marie-Tooth disease dominant intermediate C

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MONDO:0014074 - Charcot-Marie-Tooth disease dominant intermediate F

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MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B

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MONDO:0014467 - Charcot-Marie-Tooth disease recessive intermediate D

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MONDO:0012231 - Charcot-Marie-Tooth disease type 2A2

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MONDO:0010949 - Charcot-Marie-Tooth disease type 2B

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MONDO:0011570 - Charcot-Marie-Tooth disease type 2B2

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MONDO:0011091 - Charcot-Marie-Tooth disease type 2D

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MONDO:0014735 - Charcot-Marie-Tooth disease type 2Y

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MONDO:0011066 - Charcot-Marie-Tooth disease type 4B1

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MONDO:0011534 - Charcot-Marie-Tooth disease type 4G

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MONDO:0012640 - Charcot-Marie-Tooth disease type 4J

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MONDO:0014733 - Charcot-Marie-Tooth disease type 4K

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MONDO:0010479 - Charcot-Marie-Tooth disease X-linked dominant 6

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MONDO:0010689 - Charcot-Marie-Tooth disease X-linked recessive 4

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MONDO:0010699 - Charcot-Marie-Tooth disease X-linked recessive 5

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MONDO:0014906 - Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

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MONDO:0032728 - Charcot-Marie-Tooth disease, axonal, type 2EE

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MONDO:0011675 - Charcot-Marie-Tooth Disease, axonal, type 2GG

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MONDO:0980969 - Charcot-Marie-Tooth disease, axonal, type 2LL

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MONDO:0980971 - charcot-marie-tooth disease, axonal, type 2MM

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MONDO:0030677 - Charcot-Marie-Tooth disease, demyelinating, IIA 1I

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MONDO:0008963 - Chediak-Higashi syndrome

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MONDO:0018151 - coenzyme Q10 deficiency

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MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

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MONDO:0013838 - coenzyme Q10 deficiency, primary, 3

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MONDO:0033615 - coenzyme q10 deficiency, primary, 9

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MONDO:0014023 - congenital muscular dystrophy with intellectual disability and severe epilepsy

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MONDO:0014896 - congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

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MONDO:0012518 - congenital myasthenic syndrome 12

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MONDO:0013883 - congenital myasthenic syndrome 13

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MONDO:0014543 - congenital myasthenic syndrome 14

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MONDO:0014542 - congenital myasthenic syndrome 15

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MONDO:0014590 - congenital myasthenic syndrome 18

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MONDO:0980756 - congenital myopathy 28 with rigid spine

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MONDO:0859517 - congenital myopathy 2b, severe infantile, autosomal recessive

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MONDO:0008409 - congenital myopathy 7A, myosin storage, autosomal dominant

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MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome

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MONDO:0013049 - DPM3-congenital disorder of glycosylation

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MONDO:0013840 - encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

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MONDO:0007100 - familial amyloid neuropathy

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MONDO:0013836 - familial steroid-resistant nephrotic syndrome with sensorineural deafness

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MONDO:0010912 - fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

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MONDO:0014395 - frontotemporal dementia and/or amyotrophic lateral sclerosis 2

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MONDO:0013501 - frontotemporal dementia and/or amyotrophic lateral sclerosis 6

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MONDO:0010936 - frontotemporal dementia and/or amyotrophic lateral sclerosis 7

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MONDO:0011730 - fumaric aciduria

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MONDO:0014567 - glutamate pyruvate transaminase 2 deficiency

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MONDO:0009748 - hereditary sensory and autonomic neuropathy with spastic paraplegia

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MONDO:0013584 - hereditary sensory neuropathy-deafness-dementia syndrome

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MONDO:0011408 - hereditary spastic paraplegia 10

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MONDO:0011489 - hereditary spastic paraplegia 12

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MONDO:0011532 - hereditary spastic paraplegia 13

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MONDO:0010043 - hereditary spastic paraplegia 17

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MONDO:0012256 - hereditary spastic paraplegia 28

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MONDO:0012453 - hereditary spastic paraplegia 31

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MONDO:0012866 - hereditary spastic paraplegia 35

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MONDO:0012787 - hereditary spastic paraplegia 39

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MONDO:0008438 - hereditary spastic paraplegia 4

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MONDO:0012928 - hereditary spastic paraplegia 42

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MONDO:0014018 - hereditary spastic paraplegia 54

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MONDO:0014020 - hereditary spastic paraplegia 55

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MONDO:0014305 - hereditary spastic paraplegia 63

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MONDO:0014282 - hereditary spastic paraplegia 72

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MONDO:0014644 - hereditary spastic paraplegia 74

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MONDO:0014882 - hereditary spastic paraplegia 77

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MONDO:0011006 - hereditary spastic paraplegia 9A

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MONDO:0009353 - homocystinuria due to methylene tetrahydrofolate reductase deficiency

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MONDO:0010532 - infantile-onset X-linked spinal muscular atrophy

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MONDO:0009723 - Leigh syndrome

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MONDO:0013762 - lipoic acid synthetase deficiency

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MONDO:0014025 - lower motor neuron syndrome with late-adult onset

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MONDO:0016814 - maternally-inherited Leigh syndrome

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MONDO:0011246 - megaconial type congenital muscular dystrophy

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MONDO:0018868 - metachromatic leukodystrophy

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MONDO:0010184 - methylmalonic aciduria and homocystinuria type cblC

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MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

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MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

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MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

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MONDO:0975848 - Morimoto-Ryu-Malicdan neuromuscular syndrome

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MONDO:0020128 - motor neuron disorder

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MONDO:0020121 - muscular dystrophy

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MONDO:0009682 - muscular dystrophy, congenital, with rapid progression

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MONDO:0957270 - muscular dystrophy, limb-girdle, autosomal recessive 28

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MONDO:0009364 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

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MONDO:0014140 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

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MONDO:0013154 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

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MONDO:0033556 - muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

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MONDO:0013159 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

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MONDO:0014141 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

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MONDO:0013160 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

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MONDO:0000171 - muscular dystrophy-dystroglycanopathy, type A

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MONDO:0032596 - myasthenic syndrome, congenital, 23, presynaptic

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MONDO:0008050 - MYH7-related skeletal myopathy

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MONDO:0012130 - myofibrillar myopathy 2

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MONDO:0014877 - myopathy, distal, 5

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MONDO:0032853 - myopathy, distal, 6, adult-onset, autosomal dominant

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MONDO:0976133 - myopathy, myofibrillar, 13, with rimmed vacuoles

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MONDO:0011266 - myotonic dystrophy type 2

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MONDO:0014562 - neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

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MONDO:0971150 - neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity

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MONDO:0030055 - neuronopathy, distal hereditary motor, autosomal recessive 8

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MONDO:0957874 - neuronopathy, distal hereditary motor, autosomal recessive 9

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MONDO:0008025 - neuronopathy, distal hereditary motor, type 2A

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MONDO:0012080 - neuronopathy, distal hereditary motor, type 2B

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MONDO:0013243 - neuronopathy, distal hereditary motor, type 2C

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MONDO:0015353 - neuronopathy, distal hereditary motor, type 5A

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MONDO:0013884 - neuronopathy, distal hereditary motor, type 5B

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MONDO:0030860 - neuronopathy, distal hereditary motor, type 5C

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MONDO:0011879 - neuronopathy, distal hereditary motor, type 7B

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MONDO:0060585 - neuronopathy, distal hereditary motor, type 9

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MONDO:0011002 - neuropathy, hereditary motor and sensory, type 6A

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MONDO:0032792 - neuropathy, hereditary motor and sensory, type VIc, with optic atrophy

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MONDO:0008086 - neuropathy, hereditary sensory and autonomic, type 1A

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MONDO:0013337 - neuropathy, hereditary sensory and autonomic, type 1C

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MONDO:0013634 - neuropathy, hereditary sensory, type 2C

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MONDO:0011871 - Niemann-Pick disease type B

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MONDO:0958176 - oculopharyngeal muscular dystrophy 1

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MONDO:0009796 - ornithine aminotransferase deficiency

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MONDO:0008759 - oxoglutaricaciduria

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MONDO:0013948 - peroxisome biogenesis disorder 10A (Zellweger)

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MONDO:0054549 - peroxisome biogenesis disorder 10B

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MONDO:0013949 - peroxisome biogenesis disorder 11A (Zellweger)

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MONDO:0013950 - peroxisome biogenesis disorder 11B

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MONDO:0013951 - peroxisome biogenesis disorder 12A (Zellweger)

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MONDO:0013952 - peroxisome biogenesis disorder 13A (Zellweger)

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MONDO:0013967 - peroxisome biogenesis disorder 14B

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MONDO:0008953 - peroxisome biogenesis disorder 1A (Zellweger)

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MONDO:0011101 - peroxisome biogenesis disorder 1B

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MONDO:0008954 - peroxisome biogenesis disorder 2A (Zellweger)

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MONDO:0008736 - peroxisome biogenesis disorder 2B

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MONDO:0013927 - peroxisome biogenesis disorder 3A (Zellweger)

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MONDO:0013930 - peroxisome biogenesis disorder 4A (Zellweger)

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MONDO:0013931 - peroxisome biogenesis disorder 4B

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MONDO:0013936 - peroxisome biogenesis disorder 6A (Zellweger)

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MONDO:0013937 - peroxisome biogenesis disorder 6B

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MONDO:0013938 - peroxisome biogenesis disorder 7A (Zellweger)

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MONDO:0013939 - peroxisome biogenesis disorder 7B

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MONDO:0013942 - peroxisome biogenesis disorder 8A (Zellweger)

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MONDO:0013943 - peroxisome biogenesis disorder 8B

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MONDO:0013945 - peroxisome biogenesis disorder 9B

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MONDO:0100259 - peroxisome biogenesis disorder due to PEX1 defect

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MONDO:0100263 - peroxisome biogenesis disorder due to PEX6 defect

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MONDO:0009959 - peroxisome biogenesis disorder type 3B

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MONDO:0016396 - pontocerebellar hypoplasia type 1

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MONDO:0013853 - pontocerebellar hypoplasia type 1B

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MONDO:0010190 - pontocerebellar hypoplasia type 2A

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MONDO:0012890 - pontocerebellar hypoplasia type 2B

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MONDO:0012891 - pontocerebellar hypoplasia type 2C

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MONDO:0014485 - pontocerebellar hypoplasia, type 1C

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MONDO:0014874 - pontocerebellar hypoplasia, type 2F

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MONDO:0014754 - primary coenzyme Q10 deficiency 8

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MONDO:0013382 - progressive demyelinating neuropathy with bilateral striatal necrosis

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MONDO:0014800 - progressive scapulohumeroperoneal distal myopathy

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MONDO:0019169 - pyruvate dehydrogenase deficiency

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MONDO:0010717 - pyruvate dehydrogenase E1-alpha deficiency

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MONDO:0013580 - pyruvate dehydrogenase E1-beta deficiency

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MONDO:0009502 - pyruvate dehydrogenase E2 deficiency

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MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

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MONDO:0009503 - pyruvate dehydrogenase E3-binding protein deficiency

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MONDO:0012120 - pyruvate dehydrogenase phosphatase deficiency

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MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

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MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

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MONDO:0009131 - Riley-Day syndrome

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MONDO:0011835 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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MONDO:0012651 - spastic ataxia 2

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MONDO:0700307 - spastic paraplegia 30A, autosomal dominant

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MONDO:0971149 - spastic paraplegia 30B, autosomal recessive

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MONDO:0957958 - spastic paraplegia 72b, autosomal recessive

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MONDO:0032906 - spastic paraplegia 82, autosomal recessive

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MONDO:0030482 - spastic paraplegia 84, autosomal recessive

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MONDO:0030512 - spastic paraplegia 85, autosomal recessive

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MONDO:0031019 - spastic paraplegia 87, autosomal recessive

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MONDO:0957308 - spastic paraplegia 90A, autosomal dominant

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MONDO:0957309 - spastic paraplegia 90B, autosomal recessive

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MONDO:0975796 - spastic paraplegia 93, autosomal recessive

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MONDO:0014806 - spinal muscular atrophy with congenital bone fractures 1

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MONDO:0014807 - spinal muscular atrophy with congenital bone fractures 2

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MONDO:0859279 - spinal muscular atrophy, distal, autosomal recessive, 6

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MONDO:0009669 - spinal muscular atrophy, type 1

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MONDO:0009673 - spinal muscular atrophy, type II

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MONDO:0009672 - spinal muscular atrophy, type III

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MONDO:0010056 - spinal muscular atrophy, type IV

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MONDO:0011801 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

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MONDO:0018996 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

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MONDO:0008695 - VPS13A-related neurodegenerative disease

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MONDO:0010338 - X-linked distal spinal muscular atrophy type 3

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MONDO:0010684 - X-linked myopathy with excessive autophagy

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MONDO:0100138 - X-linked recessive mitochondrial myopathy

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MONDO:0019609 - Zellweger spectrum disorders

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