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Disease association ontology term - MONDO:0019046 - leukodystrophy

Term summary

ID
MONDO:0019046
Name
leukodystrophy
Ontology or CV name
Disease association
Definition
Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.

Parents

Annotation

Disease association

MONDO:0012429 - Aicardi-Goutieres syndrome 2

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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:0014593 - developmental and epileptic encephalopathy, 29

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MONDO:0014632 - hypomyelinating leukodystrophy 10

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MONDO:0014666 - hypomyelinating leukodystrophy 11

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MONDO:0014732 - hypomyelinating leukodystrophy 12

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MONDO:0014813 - hypomyelinating leukodystrophy 13

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MONDO:0009843 - hypomyelinating leukodystrophy 3

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MONDO:0012824 - hypomyelinating leukodystrophy 4

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MONDO:0012905 - hypomyelinating leukodystrophy 6

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

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

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MONDO:0859246 - leukodystrophy, childhood-onset, remitting

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

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MONDO:0030263 - leukodystrophy, hypomyelinating, 21

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MONDO:0958018 - leukodystrophy, hypomyelinating, 27

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MONDO:0011897 - leukodystrophy, hypomyelinating, 7, 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

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MONDO:0014387 - leukoencephalopathy, progressive, with ovarian failure

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

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MONDO:0018868 - metachromatic leukodystrophy

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MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

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

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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: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:0030517 - trichothiodystrophy 8, nonphotosensitive

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MONDO:0019609 - Zellweger spectrum disorders

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