About: neuronal ceroid lipofuscinosis 6A

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease neuronal ceroid lipofuscinosis nodeID://b50943559 nodeID://b50943560
label	neuronal ceroid lipofuscinosis 6A
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110729
database_cross_reference	GARD:1224 ICD10CM:E75.4 OMIM:601780 ORDO:228363
has_exact_synonym	neuronal ceroid lipofuscinosis 6 variable age of onset (en) CLN6 (en) neuronal ceroid lipofuscinosis 6
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943561

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