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Disease association ontology term - MONDO:0002602 - central nervous system disorder

Term summary

ID
MONDO:0002602
Name
central nervous system disorder
Ontology or CV name
Disease association
Definition
A disease involving the central 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:

Genes:

MONDO:0012471 - Aicardi-Goutieres syndrome 3

References:

Genes:

MONDO:0012472 - Aicardi-Goutieres syndrome 4

References:

Genes:

MONDO:0014007 - Aicardi-Goutieres syndrome 6

References:

Genes:

MONDO:0004976 - amyotrophic lateral sclerosis

References:

Genes:

MONDO:0859529 - amyotrophic lateral sclerosis 27, juvenile

References:

Genes:

MONDO:0007103 - amyotrophic lateral sclerosis type 1

References:

Genes:

MONDO:0012945 - amyotrophic lateral sclerosis type 11

References:

Genes:

MONDO:0010459 - amyotrophic lateral sclerosis type 15

References:

Genes:

MONDO:0013715 - amyotrophic lateral sclerosis type 16

References:

Genes:

MONDO:0014531 - amyotrophic lateral sclerosis type 22

References:

Genes:

MONDO:0011223 - amyotrophic lateral sclerosis type 4

References:

Genes:

MONDO:0012077 - amyotrophic lateral sclerosis type 8

References:

Genes:

MONDO:0014557 - ataxia - oculomotor apraxia type 4

References:

Genes:

MONDO:0008840 - ataxia telangiectasia

References:

Genes:

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

References:

Genes:

MONDO:0024557 - ataxia-telangiectasia-like disorder 1

References:

Genes:

MONDO:0014399 - ataxia-telangiectasia-like disorder 2

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0014720 - autosomal dominant optic atrophy plus syndrome

References:

Genes:

MONDO:0008134 - autosomal dominant optic atrophy, classic form

References:

Genes:

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

References:

Genes:

MONDO:0015244 - autosomal recessive cerebellar ataxia

References:

Genes:

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

References:

Genes:

MONDO:0011436 - autosomal recessive distal spinal muscular atrophy 1

References:

Genes:

MONDO:0011585 - autosomal recessive distal spinal muscular atrophy 2

References:

Genes:

MONDO:0014796 - autosomal recessive early-onset Parkinson disease 23

References:

Genes:

MONDO:0011658 - autosomal recessive early-onset Parkinson disease 7

References:

Genes:

MONDO:0018422 - autosomal recessive spastic paraplegia type 70

References:

Genes:

MONDO:0014975 - autosomal recessive spastic paraplegia type 78

References:

Genes:

MONDO:0013392 - autosomal recessive spinocerebellar ataxia 10

References:

Genes:

MONDO:0014503 - autosomal recessive spinocerebellar ataxia 17

References:

Genes:

MONDO:0008943 - autosomal recessive spinocerebellar ataxia 2

References:

Genes:

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

References:

Genes:

MONDO:0980939 - basal ganglia calcification, idiopathic, 11, autosomal recessive

References:

Genes:

MONDO:0014628 - basal ganglia calcification, idiopathic, 6

References:

Genes:

MONDO:0008947 - bilateral striopallidodentate calcinosis

References:

Genes:

MONDO:0979873 - brain small vessel disease 4

References:

Genes:

MONDO:0980711 - brain small vessel disease 6 with leukoencephalopathy

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0014862 - cerebral palsy, spastic quadriplegic, 3

References:

Genes:

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

References:

Genes:

MONDO:0008963 - Chediak-Higashi syndrome

References:

Genes:

MONDO:0002797 - childhood medulloblastoma

References:

Genes:

MONDO:0013541 - complex cortical dysplasia with other brain malformations 1

References:

Genes:

MONDO:0014171 - complex cortical dysplasia with other brain malformations 4

References:

Genes:

MONDO:0014337 - complex cortical dysplasia with other brain malformations 5

References:

Genes:

MONDO:0014341 - complex cortical dysplasia with other brain malformations 6

References:

Genes:

MONDO:0012399 - complex cortical dysplasia with other brain malformations 7

References:

Genes:

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

References:

Genes:

MONDO:0009050 - Cushing disease due to pituitary adenoma

References:

Genes:

MONDO:0010578 - deafness dystonia syndrome

References:

Genes:

MONDO:0030881 - developmental and epileptic encephalopathy 102

References:

Genes:

MONDO:0031021 - developmental and epileptic encephalopathy 104

References:

Genes:

MONDO:0031028 - developmental and epileptic encephalopathy 105 with hypopituitarism

References:

Genes:

MONDO:0031055 - developmental and epileptic encephalopathy 107

References:

Genes:

MONDO:0859325 - developmental and epileptic encephalopathy 109

References:

Genes:

MONDO:0957780 - developmental and epileptic encephalopathy 111

References:

Genes:

MONDO:0958330 - developmental and epileptic encephalopathy 113

References:

Genes:

MONDO:0968946 - developmental and epileptic encephalopathy 115

References:

Genes:

MONDO:0970945 - developmental and epileptic encephalopathy 116

References:

Genes:

MONDO:0979238 - developmental and epileptic encephalopathy 118

References:

Genes:

MONDO:0020630 - developmental and epileptic encephalopathy 91

References:

Genes:

MONDO:0020632 - developmental and epileptic encephalopathy 93

References:

Genes:

MONDO:0014150 - developmental and epileptic encephalopathy 94

References:

Genes:

MONDO:0023659 - developmental and epileptic encephalopathy 96

References:

Genes:

MONDO:0013389 - developmental and epileptic encephalopathy, 12

References:

Genes:

MONDO:0014199 - developmental and epileptic encephalopathy, 17

References:

Genes:

MONDO:0014392 - developmental and epileptic encephalopathy, 25

References:

Genes:

MONDO:0014593 - developmental and epileptic encephalopathy, 29

References:

Genes:

MONDO:0012245 - developmental and epileptic encephalopathy, 3

References:

Genes:

MONDO:0014598 - developmental and epileptic encephalopathy, 31A

References:

Genes:

MONDO:0957248 - developmental and epileptic encephalopathy, 31B

References:

Genes:

MONDO:0014625 - developmental and epileptic encephalopathy, 33

References:

Genes:

MONDO:0014719 - developmental and epileptic encephalopathy, 35

References:

Genes:

MONDO:0010472 - developmental and epileptic encephalopathy, 36

References:

Genes:

MONDO:0014868 - developmental and epileptic encephalopathy, 38

References:

Genes:

MONDO:0012812 - developmental and epileptic encephalopathy, 4

References:

Genes:

MONDO:0014895 - developmental and epileptic encephalopathy, 40

References:

Genes:

MONDO:0014933 - developmental and epileptic encephalopathy, 44

References:

Genes:

MONDO:0015000 - developmental and epileptic encephalopathy, 48

References:

Genes:

MONDO:0014647 - developmental and epileptic encephalopathy, 50

References:

Genes:

MONDO:0015025 - developmental and epileptic encephalopathy, 51

References:

Genes:

MONDO:0033362 - developmental and epileptic encephalopathy, 53

References:

Genes:

MONDO:0033364 - developmental and epileptic encephalopathy, 55

References:

Genes:

MONDO:0033365 - developmental and epileptic encephalopathy, 56

References:

Genes:

MONDO:0029138 - developmental and epileptic encephalopathy, 67

References:

Genes:

MONDO:0034106 - developmental and epileptic encephalopathy, 73

References:

Genes:

MONDO:0032752 - developmental and epileptic encephalopathy, 75

References:

Genes:

MONDO:0032768 - developmental and epileptic encephalopathy, 76

References:

Genes:

MONDO:0032808 - developmental and epileptic encephalopathy, 77

References:

Genes:

MONDO:0032822 - developmental and epileptic encephalopathy, 80

References:

Genes:

MONDO:0032858 - developmental and epileptic encephalopathy, 81

References:

Genes:

MONDO:0032880 - developmental and epileptic encephalopathy, 82

References:

Genes:

MONDO:0032895 - developmental and epileptic encephalopathy, 83

References:

Genes:

MONDO:0026771 - developmental and epileptic encephalopathy, 85, with or without midline brain defects

References:

Genes:

MONDO:0030059 - developmental and epileptic encephalopathy, 87

References:

Genes:

MONDO:0005503 - developmental disorder of mental health

References:

Genes:

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

References:

Genes:

MONDO:0006033 - diffuse intrinsic pontine glioma

References:

Genes:

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

References:

Genes:

MONDO:0014233 - early-onset Parkinson disease 20

References:

Genes:

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

References:

Genes:

MONDO:0975801 - encephalopathy, acute transient

References:

Genes:

MONDO:0013726 - encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0005027 - epilepsy

References:

Genes:

MONDO:0015005 - epilepsy, early-onset, vitamin B6-dependent

References:

Genes:

MONDO:0013322 - epilepsy, familial adult myoclonic, 3

References:

Genes:

MONDO:0054846 - epilepsy, familial adult myoclonic, 6

References:

Genes:

MONDO:0024556 - epilepsy, familial focal, with variable foci 1

References:

Genes:

MONDO:0014924 - epilepsy, familial focal, with variable foci 2

References:

Genes:

MONDO:0014925 - epilepsy, familial focal, with variable foci 3

References:

Genes:

MONDO:0100087 - familial Alzheimer disease

References:

Genes:

MONDO:0010080 - familial infantile bilateral striatal necrosis

References:

Genes:

MONDO:0011789 - familial meningioma

References:

Genes:

MONDO:0018346 - ferro-cerebro-cutaneous syndrome

References:

Genes:

MONDO:0005384 - focal epilepsy

References:

Genes:

MONDO:0100339 - Friedreich ataxia

References:

Genes:

MONDO:0100340 - Friedreich ataxia 1

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0014517 - generalized epilepsy with febrile seizures plus, type 9

References:

Genes:

MONDO:0014567 - glutamate pyruvate transaminase 2 deficiency

References:

Genes:

MONDO:0011612 - glycine encephalopathy

References:

Genes:

MONDO:0958179 - glycine encephalopathy 1

References:

Genes:

MONDO:0958192 - glycine encephalopathy 2

References:

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

References:

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:

Genes:

MONDO:0012866 - hereditary spastic paraplegia 35

References:

Genes:

MONDO:0012787 - hereditary spastic paraplegia 39

References:

Genes:

MONDO:0008438 - hereditary spastic paraplegia 4

References:

Genes:

MONDO:0012928 - hereditary spastic paraplegia 42

References:

Genes:

MONDO:0014018 - hereditary spastic paraplegia 54

References:

Genes:

MONDO:0014020 - hereditary spastic paraplegia 55

References:

Genes:

MONDO:0014305 - hereditary spastic paraplegia 63

References:

Genes:

MONDO:0014282 - hereditary spastic paraplegia 72

References:

Genes:

MONDO:0014644 - hereditary spastic paraplegia 74

References:

Genes:

MONDO:0014882 - hereditary spastic paraplegia 77

References:

Genes:

MONDO:0011006 - hereditary spastic paraplegia 9A

References:

Genes:

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

References:

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

References:

Genes:

MONDO:0013351 - infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

References:

Genes:

MONDO:0018097 - infantile spasms

References:

Genes:

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

References:

Genes:

MONDO:0044319 - intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

References:

Genes:

MONDO:0011818 - isolated focal cortical dysplasia type II

References:

Genes:

MONDO:0011706 - Kufor-Rakeb syndrome

References:

Genes:

MONDO:0008199 - late-onset Parkinson disease

References:

Genes:

MONDO:0016532 - Lennox-Gastaut syndrome

References:

Genes:

MONDO:0859246 - leukodystrophy, childhood-onset, remitting

References:

Genes:

MONDO:0014632 - leukodystrophy, hypomyelinating, 10

References:

Genes:

MONDO:0014666 - leukodystrophy, hypomyelinating, 11

References:

Genes:

MONDO:0014732 - leukodystrophy, hypomyelinating, 12

References:

Genes:

MONDO:0014813 - leukodystrophy, hypomyelinating, 13

References:

Genes:

MONDO:0054782 - leukodystrophy, hypomyelinating, 15

References:

Genes:

MONDO:0054791 - leukodystrophy, hypomyelinating, 16

References:

Genes:

MONDO:0032730 - leukodystrophy, hypomyelinating, 18

References:

Genes:

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

References:

Genes:

MONDO:0030263 - leukodystrophy, hypomyelinating, 21

References:

Genes:

MONDO:0958018 - leukodystrophy, hypomyelinating, 27

References:

Genes:

MONDO:0009843 - leukodystrophy, hypomyelinating, 3

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0020507 - leukoencephalopathy with vanishing white matter 1

References:

Genes:

MONDO:0957870 - leukoencephalopathy with vanishing white matter 2

References:

Genes:

MONDO:0957871 - leukoencephalopathy with vanishing white matter 3

References:

Genes:

MONDO:0957872 - leukoencephalopathy with vanishing white matter 4

References:

Genes:

MONDO:0957873 - leukoencephalopathy with vanishing white matter 5

References:

Genes:

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

References:

Genes:

MONDO:0958226 - leukoencephalopathy, porphyria-related

References:

Genes:

MONDO:0014387 - leukoencephalopathy, progressive, with ovarian failure

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0009567 - Marinesco-Sjogren syndrome

References:

Genes:

MONDO:0007959 - medulloblastoma

References:

Genes:

MONDO:0018868 - metachromatic leukodystrophy

References:

Genes:

MONDO:0013254 - microcephaly, seizures, and developmental delay

References:

Genes:

MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

References:

Genes:

MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

References:

Genes:

MONDO:0020128 - motor neuron disorder

References:

Genes:

MONDO:0013542 - Moyamoya disease 5

References:

Genes:

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

References:

Genes:

MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

References:

Genes:

MONDO:0957382 - multiple mitochondrial dysfunctions syndrome 7

References:

Genes:

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

References:

Genes:

MONDO:0034121 - NAD(P)HX dehydratase deficiency

References:

Genes:

MONDO:0011120 - neural tube defects, folate-sensitive

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0010476 - neurodegeneration with brain iron accumulation 5

References:

Genes:

MONDO:0014290 - neurodegeneration with brain iron accumulation 6

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0009744 - neuronal ceroid lipofuscinosis 1

References:

Genes:

MONDO:0008767 - neuronal ceroid lipofuscinosis 3

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0003608 - optic atrophy

References:

Genes:

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

References:

Genes:

MONDO:0015011 - optic atrophy 11

References:

Genes:

MONDO:0033549 - optic atrophy 12

References:

Genes:

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

References:

Genes:

MONDO:0957935 - optic atrophy 15

References:

Genes:

MONDO:0957978 - optic atrophy 16

References:

Genes:

MONDO:0008133 - optic atrophy 3

References:

Genes:

MONDO:0012543 - optic atrophy 5

References:

Genes:

MONDO:0014571 - optic atrophy 9

References:

Genes:

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

References:

Genes:

MONDO:0000448 - paraganglioma

References:

Genes:

MONDO:0005180 - Parkinson disease

References:

Genes:

MONDO:0013625 - Parkinson disease 17

References:

Genes:

MONDO:0014742 - Parkinson disease 22, autosomal dominant

References:

Genes:

MONDO:0957576 - Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development

References:

Genes:

MONDO:0030676 - parkinsonism-dystonia 3, childhood-onset

References:

Genes:

MONDO:0009841 - PEHO syndrome

References:

Genes:

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

References:

Genes:

MONDO:0054549 - peroxisome biogenesis disorder 10B

References:

Genes:

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

References:

Genes:

MONDO:0013950 - peroxisome biogenesis disorder 11B

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0013967 - peroxisome biogenesis disorder 14B

References:

Genes:

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

References:

Genes:

MONDO:0011101 - peroxisome biogenesis disorder 1B

References:

Genes:

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

References:

Genes:

MONDO:0008736 - peroxisome biogenesis disorder 2B

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0013931 - peroxisome biogenesis disorder 4B

References:

Genes:

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

References:

Genes:

MONDO:0013937 - peroxisome biogenesis disorder 6B

References:

Genes:

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

References:

Genes:

MONDO:0013939 - peroxisome biogenesis disorder 7B

References:

Genes:

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

References:

Genes:

MONDO:0013943 - peroxisome biogenesis disorder 8B

References:

Genes:

MONDO:0013945 - peroxisome biogenesis disorder 9B

References:

Genes:

MONDO:0100259 - peroxisome biogenesis disorder due to PEX1 defect

References:

Genes:

MONDO:0100263 - peroxisome biogenesis disorder due to PEX6 defect

References:

Genes:

MONDO:0009959 - peroxisome biogenesis disorder type 3B

References:

Genes:

MONDO:0008201 - Perry syndrome

References:

Genes:

MONDO:0008192 - pheochromocytoma/paraganglioma syndrome 1

References:

Genes:

MONDO:0011121 - pheochromocytoma/paraganglioma syndrome 2

References:

Genes:

MONDO:0011544 - pheochromocytoma/paraganglioma syndrome 3

References:

Genes:

MONDO:0007273 - pheochromocytoma/paraganglioma syndrome 4

References:

Genes:

MONDO:0013602 - pheochromocytoma/paraganglioma syndrome 5

References:

Genes:

MONDO:0032771 - pheochromocytoma/paraganglioma syndrome 7

References:

Genes:

MONDO:0016396 - pontocerebellar hypoplasia type 1

References:

Genes:

MONDO:0013853 - pontocerebellar hypoplasia type 1B

References:

Genes:

MONDO:0010190 - pontocerebellar hypoplasia type 2A

References:

Genes:

MONDO:0012890 - pontocerebellar hypoplasia type 2B

References:

Genes:

MONDO:0012891 - pontocerebellar hypoplasia type 2C

References:

Genes:

MONDO:0014485 - pontocerebellar hypoplasia, type 1C

References:

Genes:

MONDO:0014874 - pontocerebellar hypoplasia, type 2F

References:

Genes:

MONDO:0005181 - progressive external ophthalmoplegia

References:

Genes:

MONDO:0024528 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

References:

Genes:

MONDO:0012238 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

References:

Genes:

MONDO:0013117 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

References:

Genes:

MONDO:0009783 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

References:

Genes:

MONDO:0014656 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

References:

Genes:

MONDO:0020845 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

References:

Genes:

MONDO:0957993 - progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

References:

Genes:

MONDO:0013526 - progressive myoclonic epilepsy type 6

References:

Genes:

MONDO:0020074 - progressive myoclonus epilepsy

References:

Genes:

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

References:

Genes:

MONDO:0012407 - pyridoxal phosphate-responsive seizures

References:

Genes:

MONDO:0013224 - rhabdoid tumor predisposition syndrome 2

References:

Genes:

MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

References:

Genes:

MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

References:

Genes:

MONDO:0012073 - ribose-5-P isomerase deficiency

References:

Genes:

MONDO:0005090 - schizophrenia

References:

Genes:

MONDO:0013498 - schizophrenia 15

References:

Genes:

MONDO:0014402 - severe neurodegenerative syndrome with lipodystrophy

References:

Genes:

MONDO:0012651 - spastic ataxia 2

References:

Genes:

MONDO:0700307 - spastic paraplegia 30A, autosomal dominant

References:

Genes:

MONDO:0971149 - spastic paraplegia 30B, autosomal recessive

References:

Genes:

MONDO:0957958 - spastic paraplegia 72b, autosomal recessive

References:

Genes:

MONDO:0032906 - spastic paraplegia 82, autosomal recessive

References:

Genes:

MONDO:0030482 - spastic paraplegia 84, autosomal recessive

References:

Genes:

MONDO:0030512 - spastic paraplegia 85, autosomal recessive

References:

Genes:

MONDO:0031019 - spastic paraplegia 87, autosomal recessive

References:

Genes:

MONDO:0957308 - spastic paraplegia 90A, autosomal dominant

References:

Genes:

MONDO:0957309 - spastic paraplegia 90B, autosomal recessive

References:

Genes:

MONDO:0975796 - spastic paraplegia 93, autosomal recessive

References:

Genes:

MONDO:0008449 - spina bifida

References:

Genes:

MONDO:0001892 - spinal cord lymphoma

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0009669 - spinal muscular atrophy, type 1

References:

Genes:

MONDO:0009673 - spinal muscular atrophy, type II

References:

Genes:

MONDO:0009672 - spinal muscular atrophy, type III

References:

Genes:

MONDO:0010056 - spinal muscular atrophy, type IV

References:

Genes:

MONDO:0016163 - spinocerebellar ataxia 7

References:

Genes:

MONDO:0011330 - spinocerebellar ataxia type 10

References:

Genes:

MONDO:0011439 - spinocerebellar ataxia type 12

References:

Genes:

MONDO:0011781 - spinocerebellar ataxia type 17

References:

Genes:

MONDO:0008458 - spinocerebellar ataxia type 2

References:

Genes:

MONDO:0012246 - spinocerebellar ataxia type 26

References:

Genes:

MONDO:0012450 - spinocerebellar ataxia type 28

References:

Genes:

MONDO:0007574 - spinocerebellar ataxia type 34

References:

Genes:

MONDO:0013594 - spinocerebellar ataxia type 36

References:

Genes:

MONDO:0014417 - spinocerebellar ataxia type 38

References:

Genes:

MONDO:0014934 - spinocerebellar ataxia, autosomal recessive 24

References:

Genes:

MONDO:0033115 - spinocerebellar ataxia, autosomal recessive 25

References:

Genes:

MONDO:0032923 - spinocerebellar ataxia, autosomal recessive 28

References:

Genes:

MONDO:0030312 - spinocerebellar ataxia, autosomal recessive 29

References:

Genes:

MONDO:0030318 - spinocerebellar ataxia, autosomal recessive 30

References:

Genes:

MONDO:0030323 - spinocerebellar ataxia, autosomal recessive 31

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0003122 - striatonigral degeneration

References:

Genes:

MONDO:0014889 - striatonigral degeneration, childhood-onset

References:

Genes:

MONDO:0010774 - striatonigral degeneration, infantile, mitochondrial

References:

Genes:

MONDO:0030517 - trichothiodystrophy 8, nonphotosensitive

References:

Genes:

MONDO:0018614 - undetermined early-onset epileptic encephalopathy

References:

Genes:

MONDO:0008695 - VPS13A-related neurodegenerative disease

References:

Genes:

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

References:

Genes:

MONDO:0010747 - X-linked dystonia-parkinsonism

References:

Genes:

MONDO:0010547 - X-linked progressive cerebellar ataxia

References:

Genes:

MONDO:0010524 - X-linked sideroblastic anemia with ataxia

References:

Genes:

MONDO:0019609 - Zellweger spectrum disorders

References:

Genes: