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Metadata
ID	DOID:0110732
Name	neuronal ceroid lipofuscinosis 11
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
Xrefs	ICD10CM:E75.4 MIM:614706 ORDO:314629
Subsets	DO_rare_slim
Synonyms	CLN11 [EXACT]
Parent Relationships	is_a neuronal ceroid lipofuscinosis is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance