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Disease association ontology term - MONDO:0020022 - central nervous system malformation

Term summary

ID
MONDO:0020022
Name
central nervous system malformation
Ontology or CV name
Disease association

Parents

Annotation

Disease association

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

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MONDO:0014529 - cerebellar-facial-dental syndrome

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MONDO:0044701 - childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

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MONDO:0010610 - holoprosencephaly-hypokinesia-congenital contractures syndrome

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

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MONDO:0011818 - isolated focal cortical dysplasia type II

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MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

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MONDO:0014716 - macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

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MONDO:0100283 - overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

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MONDO:0020135 - pontocerebellar hypoplasia

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MONDO:0016396 - pontocerebellar hypoplasia type 1

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MONDO:0014349 - pontocerebellar hypoplasia type 10

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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:0014370 - pontocerebellar hypoplasia type 2E

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MONDO:0009166 - pontocerebellar hypoplasia type 4

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MONDO:0012438 - pontocerebellar hypoplasia type 5

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MONDO:0012683 - pontocerebellar hypoplasia type 6

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MONDO:0013990 - pontocerebellar hypoplasia type 8

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MONDO:0014351 - pontocerebellar hypoplasia type 9

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MONDO:0032643 - pontocerebellar hypoplasia, type 12

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MONDO:0032831 - pontocerebellar hypoplasia, type 13

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MONDO:0030258 - pontocerebellar hypoplasia, type 14

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MONDO:0030259 - pontocerebellar hypoplasia, type 15

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MONDO:0030438 - pontocerebellar hypoplasia, type 16

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MONDO:0014485 - pontocerebellar hypoplasia, type 1C

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MONDO:0054844 - pontocerebellar hypoplasia, type 1D

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MONDO:0030261 - pontocerebellar hypoplasia, type 1F

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MONDO:0014874 - pontocerebellar hypoplasia, type 2F

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MONDO:0010574 - syndromic X-linked intellectual disability 5

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MONDO:0014848 - TELO2-related intellectual disability-neurodevelopmental disorder

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