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ARSG
No data
Diseases
Neuronal Ceroid-Lipofuscinoses
neuronal ceroid-lipofuscinoses
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Neuronal Ceroid-Lipofuscinoses
- Standard Disease Name
- neuronal ceroid-lipofuscinoses
- MeSH Tree
- No data
- ICD-10
- E75.4
Identifiers
- DO ID
- No data
- MeSH ID
- D009472
- OMIM ID
- 214200
- UMLS ID
- C0027877
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.|MSH2017_2016_08_12: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.|CSP2006:inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin.