Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 1

Term ID
DOID:0110721
Synonyms
  • CLN1
  • neuronal ceroid lipofuscinosis 1 variable age of onset
Definition
A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/7637805
References
Ontology
Human Disease   ( DOID:0110721 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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