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Disease association ontology term - MONDO:0024237 - inherited neurodegenerative disorder

Term summary

ID
MONDO:0024237
Name
inherited neurodegenerative disorder
Ontology or CV name
Disease association
Definition
An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.

Parents

Annotation

Disease association

MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

References:

Genes:

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

References:

Genes:

MONDO:0012429 - Aicardi-Goutieres syndrome 2

References:

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MONDO:0012471 - Aicardi-Goutieres syndrome 3

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MONDO:0012472 - Aicardi-Goutieres syndrome 4

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MONDO:0014007 - Aicardi-Goutieres syndrome 6

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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:0014557 - ataxia - oculomotor apraxia type 4

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MONDO:0008840 - ataxia telangiectasia

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Genes:

MONDO:0008842 - ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

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MONDO:0024557 - ataxia-telangiectasia-like disorder 1

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MONDO:0014399 - ataxia-telangiectasia-like disorder 2

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MONDO:0011397 - autosomal dominant cerebellar ataxia, deafness and narcolepsy

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

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MONDO:0014720 - autosomal dominant optic atrophy plus syndrome

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MONDO:0008134 - autosomal dominant optic atrophy, classic form

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MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

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MONDO:0015244 - autosomal recessive cerebellar ataxia

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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:0018422 - autosomal recessive spastic paraplegia type 70

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MONDO:0014975 - autosomal recessive spastic paraplegia type 78

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Genes:

MONDO:0013392 - autosomal recessive spinocerebellar ataxia 10

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MONDO:0014503 - autosomal recessive spinocerebellar ataxia 17

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MONDO:0008943 - autosomal recessive spinocerebellar ataxia 2

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Genes:

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

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Genes:

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

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Genes:

MONDO:0014104 - cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

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MONDO:0013886 - cerebellar dysfunction with variable cognitive and behavioral abnormalities

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MONDO:0008083 - ceroid lipofuscinosis, neuronal, 4 (Kufs type)

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MONDO:0008963 - Chediak-Higashi syndrome

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MONDO:0011402 - congenital cataracts-facial dysmorphism-neuropathy syndrome

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MONDO:0010578 - deafness dystonia syndrome

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MONDO:0014593 - developmental and epileptic encephalopathy, 29

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Genes:

MONDO:0014719 - developmental and epileptic encephalopathy, 35

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Genes:

MONDO:0014335 - diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

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MONDO:0015003 - dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

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MONDO:0044646 - early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

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MONDO:0014960 - encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

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MONDO:0020781 - encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

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MONDO:0100087 - familial Alzheimer disease

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MONDO:0010080 - familial infantile bilateral striatal necrosis

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MONDO:0018346 - ferro-cerebro-cutaneous syndrome

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MONDO:0100339 - Friedreich ataxia

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MONDO:0100340 - Friedreich ataxia 1

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

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Genes:

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

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Genes:

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

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Genes:

MONDO:0014567 - glutamate pyruvate transaminase 2 deficiency

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Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0011408 - hereditary spastic paraplegia 10

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Genes:

MONDO:0011489 - hereditary spastic paraplegia 12

References:

Genes:

MONDO:0011532 - hereditary spastic paraplegia 13

References:

Genes:

MONDO:0010043 - hereditary spastic paraplegia 17

References:

Genes:

MONDO:0012256 - hereditary spastic paraplegia 28

References:

Genes:

MONDO:0012453 - hereditary spastic paraplegia 31

References:

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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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Genes:

MONDO:0011006 - hereditary spastic paraplegia 9A

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Genes:

MONDO:0014115 - hypomyelination with brain stem and spinal cord involvement and leg spasticity

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Genes:

MONDO:0024567 - hypotonia, infantile, with psychomotor retardation and characteristic facies 1

References:

Genes:

MONDO:0000507 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia

References:

Genes:

MONDO:0008178 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

References:

Genes:

MONDO:0013802 - infantile cerebellar-retinal degeneration

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

References:

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MONDO:0011706 - Kufor-Rakeb syndrome

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MONDO:0859246 - leukodystrophy, childhood-onset, remitting

References:

Genes:

MONDO:0014632 - leukodystrophy, hypomyelinating, 10

References:

Genes:

MONDO:0014666 - leukodystrophy, hypomyelinating, 11

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Genes:

MONDO:0014732 - leukodystrophy, hypomyelinating, 12

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MONDO:0014813 - leukodystrophy, hypomyelinating, 13

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MONDO:0054782 - leukodystrophy, hypomyelinating, 15

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MONDO:0054791 - leukodystrophy, hypomyelinating, 16

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MONDO:0032730 - leukodystrophy, hypomyelinating, 18

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Genes:

MONDO:0032871 - leukodystrophy, hypomyelinating, 19, transient infantile

References:

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MONDO:0030263 - leukodystrophy, hypomyelinating, 21

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MONDO:0958018 - leukodystrophy, hypomyelinating, 27

References:

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MONDO:0009843 - leukodystrophy, hypomyelinating, 3

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MONDO:0012824 - leukodystrophy, hypomyelinating, 4

References:

Genes:

MONDO:0012905 - leukodystrophy, hypomyelinating, 6

References:

Genes:

MONDO:0011897 - leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

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MONDO:0013722 - leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism

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MONDO:0012622 - leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

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MONDO:0020507 - leukoencephalopathy with vanishing white matter 1

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MONDO:0957870 - leukoencephalopathy with vanishing white matter 2

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MONDO:0957871 - leukoencephalopathy with vanishing white matter 3

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MONDO:0957872 - leukoencephalopathy with vanishing white matter 4

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MONDO:0957873 - leukoencephalopathy with vanishing white matter 5

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MONDO:0030634 - leukoencephalopathy, hereditary diffuse, with spheroids 2

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MONDO:0958226 - leukoencephalopathy, porphyria-related

References:

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MONDO:0014387 - leukoencephalopathy, progressive, with ovarian failure

References:

Genes:

MONDO:0013971 - leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

References:

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

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MONDO:0009567 - Marinesco-Sjogren syndrome

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MONDO:0018868 - metachromatic leukodystrophy

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MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

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MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

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

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MONDO:0034121 - NAD(P)HX dehydratase deficiency

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MONDO:0957211 - neurodegeneration and seizures due to copper transport defect

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MONDO:0031006 - neurodegeneration with ataxia and late-onset optic atrophy

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MONDO:0010476 - neurodegeneration with brain iron accumulation 5

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MONDO:0014290 - neurodegeneration with brain iron accumulation 6

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MONDO:0957225 - neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities

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MONDO:0030028 - neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

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MONDO:0957985 - neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline

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MONDO:0030947 - neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities

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MONDO:0859304 - neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction

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MONDO:0859241 - neurodegeneration, childhood-onset, with progressive microcephaly

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MONDO:0976236 - neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment

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MONDO:0032705 - neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

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MONDO:0958231 - neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

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MONDO:0009744 - neuronal ceroid lipofuscinosis 1

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MONDO:0008767 - neuronal ceroid lipofuscinosis 3

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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:0020737 - optic atrophy 10 with or without ataxia, intellectual disability, and seizures

References:

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MONDO:0015011 - optic atrophy 11

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MONDO:0033549 - optic atrophy 12

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MONDO:0008135 - optic atrophy 13 with retinal and foveal abnormalities

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MONDO:0957935 - optic atrophy 15

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MONDO:0957978 - optic atrophy 16

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MONDO:0008133 - optic atrophy 3

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MONDO:0012543 - optic atrophy 5

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MONDO:0014571 - optic atrophy 9

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MONDO:0007429 - optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

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MONDO:0009841 - PEHO syndrome

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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:0008201 - Perry syndrome

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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:0044726 - psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

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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:0012073 - ribose-5-P isomerase deficiency

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MONDO:0014402 - severe neurodegenerative syndrome with lipodystrophy

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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:0016163 - spinocerebellar ataxia 7

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MONDO:0011330 - spinocerebellar ataxia type 10

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MONDO:0011439 - spinocerebellar ataxia type 12

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MONDO:0011781 - spinocerebellar ataxia type 17

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MONDO:0008458 - spinocerebellar ataxia type 2

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MONDO:0012246 - spinocerebellar ataxia type 26

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MONDO:0012450 - spinocerebellar ataxia type 28

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MONDO:0007574 - spinocerebellar ataxia type 34

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MONDO:0013594 - spinocerebellar ataxia type 36

References:

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MONDO:0014417 - spinocerebellar ataxia type 38

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MONDO:0014934 - spinocerebellar ataxia, autosomal recessive 24

References:

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MONDO:0033115 - spinocerebellar ataxia, autosomal recessive 25

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MONDO:0032923 - spinocerebellar ataxia, autosomal recessive 28

References:

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MONDO:0030312 - spinocerebellar ataxia, autosomal recessive 29

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MONDO:0030318 - spinocerebellar ataxia, autosomal recessive 30

References:

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MONDO:0030323 - spinocerebellar ataxia, autosomal recessive 31

References:

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

References:

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

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MONDO:0003122 - striatonigral degeneration

References:

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MONDO:0014889 - striatonigral degeneration, childhood-onset

References:

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MONDO:0010774 - striatonigral degeneration, infantile, mitochondrial

References:

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MONDO:0030517 - trichothiodystrophy 8, nonphotosensitive

References:

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MONDO:0008695 - VPS13A-related neurodegenerative disease

References:

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

References:

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MONDO:0010547 - X-linked progressive cerebellar ataxia

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MONDO:0010524 - X-linked sideroblastic anemia with ataxia

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MONDO:0019609 - Zellweger spectrum disorders

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