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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
agenesis of the corpus callosum with peripheral neuropathy 
Alzheimer disease 18 
amyotrophic lateral sclerosis-parkinsonism-dementia complex 
angioid streaks of choroid 
ataxia-telangiectasia-like disorder +  
attenuated Chédiak-Higashi syndrome 
autosomal dominant cerebellar ataxia +   
autosomal recessive cerebral atrophy 
cerebellar ataxia-hypogonadism syndrome 
cerebral lipidosis with dementia +  
Chediak-Higashi syndrome 
corticobasal syndrome 
deafness dystonia syndrome 
developmental and epileptic encephalopathy, 35 
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy +  
facial onset sensory and motor neuronopathy 
familial Alzheimer disease +  
fatal familial insomnia 
fatal post-viral neurodegenerative disorder 
ferro-cerebro-cutaneous syndrome 
frontotemporal dementia +   
frontotemporal dementia and/or amyotrophic lateral sclerosis +  
frontotemporal dementia with motor neuron disease +  
GM2 gangliosidosis +  
hereditary motor neuron disease +  
hereditary optic atrophy +  
hereditary sensory neuropathy-deafness-dementia syndrome 
hereditary spastic paraplegia +  
Huntington disease and related disorders +   
Huntington disease-like 1 
hypotonia, infantile, with psychomotor retardation and characteristic facies +  
infantile cerebellar-retinal degeneration 
inherited Creutzfeldt-Jakob disease 
inherited prion disease 
ITM2B amyloidosis +  
Kennedy disease 
leukodystrophy +  
lysosomal acid lipase deficiency +  
microphthalmia-brain atrophy syndrome 
mitochondrial DNA depletion syndrome 4a 
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 
myoclonic cerebellar dyssynergia 
neurodegeneration with brain iron accumulation +  
neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities 
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 
neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 
neurodegeneration, childhood-onset, with progressive microcephaly 
neurodegenerative syndrome due to cerebral folate transport deficiency 
neuronal ceroid lipofuscinosis +  
A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
neuronal intranuclear inclusion disease 
neutral lipid storage disease +  
PEHO syndrome 
posterior cortical atrophy  
progressive supranuclear palsy +   
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 
recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 
severe neurodegenerative syndrome with lipodystrophy 
sphingolipidosis +   
synucleinopathy +   
tremor-ataxia-central hypomyelination syndrome 
TUBB4A-related neurologic disorder +  
vitreoretinal degeneration +  
X-linked neurodegenerative syndrome, Bertini type 
X-linked neurodegenerative syndrome, Hamel type 
xanthomatosis +  

Synonyms
Exact Synonyms: NCL ;   ceroid lipofuscinoses ;   hereditary ceroid lipofuscinosis
Alternate IDs: MONDO:0016295
Xrefs: DOID:14503 ;   GARD:10739 ;   ICD10CM:E75.4 ;   MEDGEN:10326 ;   MIM:PS256730 ;   NANDO:1200150 ;   NANDO:2200573 ;   NCI:C61257 ;   ORDO:216 ;   SCTID:42012007
Definition Sources: Orphanet:216

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