Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

obsolete_neuronal ceroid lipofuscinosis
Synonyms
Definitions

A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.
ID

http://www.ebi.ac.uk/efo/EFO_0003111
Obsolete

true
database_cross_reference

NCIt:C61257

OMIM:204300
definition

A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.
deprecated

true
label

obsolete_neuronal ceroid lipofuscinosis
obsoleted_in_version

2.32
organizational_class

true
preferred label

obsolete_neuronal ceroid lipofuscinosis
prefixIRI

efo:EFO_0003111
prefLabel

obsolete_neuronal ceroid lipofuscinosis
reason_for_obsolescence

use 'http://www.orpha.net/ORDO/Orphanet_216' instead. New Label : Neuronal ceroid lipofuscinosis
term editor

Tomasz Adamusiak
term replaced by

http://www.orpha.net/ORDO/Orphanet_216
subClassOf

http://www.w3.org/2002/07/owl#Thing
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