Terminology Service for NFDI4Health
Neuronal Ceroid Lipofuscinosis
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http://purl.obolibrary.org/obo/NCIT_C61257
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. [ ]
Term info
Label
Neuronal Ceroid Lipofuscinosis
Synonyms
- Neuronal Ceroid Lipofuscinosis
Legacy Concept Name
Neuronal_Ceroid_Lipofuscinosis
Preferred Name
Neuronal Ceroid Lipofuscinosis
Semantic Type
Disease or Syndrome
UMLS CUI
C0027877
code
C61257