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neuronal ceroid lipofuscinosis (DOID:14503)
Annotations: Rat: (185) Mouse: (188) Human: (206) Chinchilla: (164) Bonobo: (167) Dog: (182) Squirrel: (164) Pig: (180)
Parent Terms Term With Siblings Child Terms
Alexander disease  
Canavan disease  
Cephalin Lipidosis 
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
Cockayne syndrome +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Dystonia Musculorum Deformans +   
Familial Amyloid Polyneuropathies +   
Familial Cardiac Lipidosis 
familial encephalopathy with neuroserpin inclusion bodies  
Farber lipogranulomatosis  
fatty liver disease +   
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
Kennedy's disease  
Lafora disease  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
lysosomal and lipase deficiency +   
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
mucolipidosis +   
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Neurovisceral Storage Disease with Curvilinear Bodies 
neutral lipid storage disease +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Psychomotor Deterioration  
Sjogren-Larsson syndrome +   
sphingolipidosis +   
spinal muscular atrophy with predominant lower extremity +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 10 
Tremor of Intention, Ataxia, and Lipofuscinosis 
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
Wilson disease +   
X-Linked Intellectual Developmental Disorders +   
xanthomatosis +   

Exact Synonyms: Batten Mayou Disease ;   Ceroid Storage Disease ;   Ceroid Storage Diseases ;   Jansky Bielschowsky Disease ;   Kuf Disease ;   Kuf's Diseases ;   Kuf's disease ;   Kufs Disease Autosomal Recessive ;   Kufs Type Neuronal Ceroid Lipofuscinosis ;   Kufs disease ;   Lipofuscin Storage Disease ;   hereditary ceroid lipofuscinosis ;   lipofuscin storage diseases ;   neuronal ceroid lipofuscinoses
Narrow Synonyms: Infantile Neuronal Ceroid Lipofuscinosis ;   Juvenile Cerebroretinal Degeneration ;   Juvenile Cerebroretinal Degenerations ;   Late-Infantile Neuronal Ceroid Lipofuscinosis ;   adult neuronal ceroid lipofuscinosis ;   amaurotic idiocy, adult type ;   neuronal ceroid lipofuscinosis, 12 ;   neuronal ceroid lipofuscinosis, adult type
Primary IDs: MESH:D009472
Alternate IDs: OMIA:001503 ;   OMIA:001552
Xrefs: EFO:0003111 ;   EFO:0003112 ;   GARD:10739 ;   MONDO:0015674 ;   MONDO:0016295 ;   NCI:C61257 ;   OMIM:PS256730 ;   ORDO:216 ;   ORDO:79262
Definition Sources: MESH:D009472

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