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Disease association ontology term - MONDO:0002320 - congenital nervous system disorder

Term summary

ID
MONDO:0002320
Name
congenital nervous system disorder
Ontology or CV name
Disease association
Definition
An abnormality of the nervous system that is present at birth or detected in the neonatal period.

Parents

Annotation

Disease association

MONDO:0012099 - AICA-ribosiduria

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MONDO:0100084 - alpha-actinopathy

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MONDO:0000819 - anencephaly

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MONDO:0014700 - Au-Kline syndrome

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MONDO:0014558 - autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

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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:0014601 - autosomal recessive spinocerebellar ataxia 20

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MONDO:0013812 - Baraitser-winter syndrome 2

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MONDO:0012986 - bilateral parasagittal parieto-occipital polymicrogyria

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MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

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MONDO:0014529 - cerebellar-facial-dental syndrome

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MONDO:0975952 - cerebral cavernous malformations 5

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MONDO:0015026 - cerebroretinal microangiopathy with calcifications and cysts 2

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MONDO:0957264 - cerebroretinal microangiopathy with calcifications and cysts 3

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MONDO:0008963 - Chediak-Higashi syndrome

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

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

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

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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:0008070 - congenital myopathy 2a, typical, autosomal dominant

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MONDO:0800341 - congenital myopathy 4A, autosomal dominant

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MONDO:0012239 - congenital myopathy 4B, autosomal recessive

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

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MONDO:0010472 - developmental and epileptic encephalopathy, 36

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MONDO:0014647 - developmental and epileptic encephalopathy, 50

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MONDO:0034106 - developmental and epileptic encephalopathy, 73

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MONDO:0032808 - developmental and epileptic encephalopathy, 77

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MONDO:0013049 - DPM3-congenital disorder of glycosylation

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MONDO:0013578 - DYRK1A-related intellectual disability syndrome

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

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MONDO:0008675 - Freeman-Sheldon syndrome

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MONDO:0032787 - holoprosencephaly 12 with or without pancreatic agenesis

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MONDO:0026763 - holoprosencephaly 13, X-linked

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MONDO:0030886 - holoprosencephaly 14

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MONDO:0010610 - holoprosencephaly-hypokinesia-congenital contractures syndrome

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MONDO:0014602 - Houge-Janssens syndrome 1

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MONDO:0014632 - hypomyelinating leukodystrophy 10

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

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

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

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MONDO:0030912 - intellectual disability, autosomal dominant 47

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MONDO:0014832 - intellectual disability, autosomal recessive 53

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MONDO:0010500 - intellectual disability, X-linked, syndromic 33

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MONDO:0011053 - intellectual disability-sparse hair-brachydactyly syndrome

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MONDO:0008939 - isolated cerebellar hypoplasia/agenesis

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MONDO:0009479 - Johanson-Blizzard syndrome

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MONDO:0018998 - Leber congenital amaurosis

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MONDO:0013454 - Leber congenital amaurosis 11

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MONDO:0012990 - Leber congenital amaurosis 13

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MONDO:0032794 - Leber congenital amaurosis 19

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MONDO:0012056 - Leber congenital amaurosis 9

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MONDO:0060650 - Leber congenital amaurosis with early-onset deafness

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MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

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MONDO:0014596 - lissencephaly 7 with cerebellar hypoplasia

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MONDO:0012703 - lissencephaly due to TUBA1A mutation

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MONDO:0018838 - lissencephaly spectrum disorders

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

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MONDO:0011246 - megaconial type congenital muscular dystrophy

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MONDO:0054593 - microcephaly 18, primary, autosomal dominant

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MONDO:0013790 - mirror movements 2

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MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

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

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

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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:0009709 - myopathy, centronuclear, 2

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

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MONDO:0009725 - nemaline myopathy 2

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MONDO:0012538 - nemaline myopathy 7

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MONDO:0009736 - Neu-Laxova syndrome 1

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MONDO:0014466 - Neu-Laxova syndrome 2

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MONDO:0011120 - neural tube defects, folate-sensitive

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MONDO:0060502 - neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

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MONDO:0011966 - periventricular heterotopia with microcephaly, autosomal recessive

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MONDO:0020341 - periventricular nodular heterotopia

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MONDO:0014966 - periventricular nodular heterotopia 7

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MONDO:0032588 - periventricular nodular heterotopia 8

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MONDO:0011213 - Pierpont syndrome

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MONDO:0014679 - polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

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MONDO:0005181 - progressive external ophthalmoplegia

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

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

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

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

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

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

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

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MONDO:0014800 - progressive scapulohumeroperoneal distal myopathy

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

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MONDO:0008449 - spina bifida

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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:0031007 - spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

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MONDO:0010574 - syndromic X-linked intellectual disability 5

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MONDO:0010355 - syndromic X-linked intellectual disability Claes-Jensen type

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MONDO:0010286 - syndromic X-linked intellectual disability Siderius type

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

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MONDO:0014296 - Warburg micro syndrome 4

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MONDO:0010655 - X-linked intellectual disability with marfanoid habitus

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MONDO:0010306 - X-linked intellectual disability, Cabezas type

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MONDO:0010496 - X-linked intellectual disability-short stature-overweight syndrome

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MONDO:0100138 - X-linked recessive mitochondrial myopathy

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