Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 5

Term ID
DOID:0110728
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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