OBO ID: DOID:0110721
Term Name: neuronal ceroid lipofuscinosis 1 Search Ontology:
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)
OTHER neuronal ceroid lipofuscinosis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PPT1 Ceroid lipofuscinosis, neuronal, 1 256730
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)