OBO ID: DOID:0110726
Term Name: neuronal ceroid lipofuscinosis 2 Search Ontology:
Synonyms:
  • CLN2
  • neuronal ceroid lipofuscinosis 2 variable age at onset
Definition: A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (2)
References:
Ontology: Human Disease   (DOID:0110726)
OTHER neuronal ceroid lipofuscinosis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TPP1 Ceroid lipofuscinosis, neuronal, 2 204500
ZEBRAFISH MODELS
Fish Conditions Citations
tpp1sa11/sa11 standard conditions Mahmood et al., 2013
PHENOTYPE No data available

CITATIONS (2)