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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Rare genetic neurological disorder
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Rare genetic neurological disorder 0
              Adult-onset autosomal dominant leukodystrophy 0
              Arginine:glycine amidinotransferase deficiency 0
              Athabaskan brainstem dysgenesis syndrome 0
              Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 0
              Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 0
              Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 0
              Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 0
              Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 0
              Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 0
              Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 0
              Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 0
              Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 0
              Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 0
              Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome 0
              Axonal Charcot-Marie-Tooth disease with acrodystrophy 0
              Brain demyelination due to methionine adenosyltransferase deficiency 0
              CACH syndrome 0
              CARASIL 0
              Channelopathy-associated congenital insensitivity to pain 0
              Chronic diarrhea with hereditary sensory and autonomic neuropathy 0
              Classical homocystinuria 0
              Classical phenylketonuria 0
              Cold-induced sweating syndrome-hyperthermia spectrum + 0
              Congenital disorder of glycosylation with neurological involvement + 0
              Congenital ichthyosis - intellectual disability - spastic quadriplegia 0
              Congenital intrauterine infection-like syndrome 0
              Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome 0
              Dejerine-Sottas syndrome 0
              Distal hereditary motor neuropathy type 1 0
              Distal hereditary motor neuropathy type 5 0
              Familial advanced sleep-phase syndrome 0
              Familial cerebral saccular aneurysm 0
              Familial cervical artery dissections 0
              Familial dysautonomia 0
              Familial exudative vitreoretinopathy 0
              Gamma-aminobutyric acid transaminase deficiency 0
              Gaucher disease type 2 0
              Gaucher disease type 3 0
              Genetic central nervous system malformation + 0
              Genetic cerebrovascular dementia + 0
              Genetic neurodegenerative disease + 0
              Genetic neuromuscular disease + 0
              Genetic neurovascular malformation + 0
              HSD10 disease + 0
              Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia 0
              Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 0
              Hyperphenylalaninemia + 0
              Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism + 0
              Hypomyelination with atrophy of basal ganglia and cerebellum 0
              Hypotonia-cerebral atrophy-hyperglycinemia syndrome 0
              Inherited congenital spastic tetraplegia 0
              Lethal encephalopathy due to mitochondrial and peroxisomal fission defect 0
              Leukoencephalopathy - dystonia - motor neuropathy 0
              Leukoencephalopathy - thalamus and brainstem anomalies - high lactate 0
              MEGDEL syndrome 0
              Metabolic disease with dementia + 0
              Monoamine oxidase A deficiency 0
              Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism 0
              Multiple sulfatase deficiency 0
              Nasu-Hakola disease 0
              Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 0
              Neurologic Waardenburg-Shah syndrome 0
              Neurological conditions associated with aminoacylase 1 deficiency 0
              Not NOTCH3-related small vessel disease of the brain 0
              Ondine syndrome 0
              Polyneuropathy - hand defect 0
              Rare genetic epilepsy + 0
              Rare genetic headache 0
              Rare genetic intellectual disability + 0
              Rare genetic medullar disease + 0
              Rare genetic movement disorder + 0
              Rare hereditary ataxia + 0
              Rare hereditary disease with peripheral neuropathy + 0
              Rare pervasive developmental disorder + 0
              Retinal vasculopathy and cerebral leukodystrophy + 0
              Roussy-Lévy syndrome 0
              Sjögren-Larsson syndrome 0
              Spinal muscular atrophy with respiratory distress type 1 0
              Spinocerebellar ataxia with oculomotor anomaly + 0
              Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 0
              Triose phosphate-isomerase deficiency 0
              X-linked Charcot-Marie-Tooth disease type 1 0
              X-linked creatine transporter deficiency 0
              X-linked hereditary sensory and autonomic neuropathy with deafness 0
              X-linked recessive hereditary axonal motor and sensory neuropathy + 0
              autosomal dominant intermediate Charcot-Marie-Tooth disease type G 0
              congenital contractures of the limbs and face, hypotonia, and developmental delay 0
              glut1 deficiency syndrome 1, autosomal recessive 0
              neuropathy, hereditary motor and sensory, type vib 0
              sialidosis type I 0
              stromme syndrome 0
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