OBO ID: DOID:0110728
Term Name: neuronal ceroid lipofuscinosis 5 Search Ontology:
Synonyms:
  • CLN5
  • neuronal ceroid lipofuscinosis 5 variable age of onset
Definition: A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. (2)
References:
Ontology: Human Disease   ( DOID:0110728 )
Relationships
is a type of:
OTHER neuronal ceroid lipofuscinosis 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLN5 Ceroid lipofuscinosis, neuronal, 5 256731
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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