Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 11

Term ID
DOID:0110732
Synonyms
  • CLN11
Definition
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. https://www.ncbi.nlm.nih.gov/pubmed/22608501
References
Ontology
Human Disease   ( DOID:0110732 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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