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neuronal ceroid lipofuscinosis 7

Go to external page http://purl.obolibrary.org/obo/MONDO_0012588

Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. [ https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:228366 (OMIM:610951)
  • OMIM:610951 (Orphanet:228366/e)
  • GARD:0001220 (MONDO:equivalentTo)
  • MESH:C563989 (MONDO:equivalentTo)
  • DOID:0110722 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_etiological_subtype

abbreviation
CLN7 [ https://omim.org/entry/610951 DOID : 0110722 MONDO : Lexical ]
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
exactMatch
  • http://purl.obolibrary.org/obo/DOID_0110722
  • https://omim.org/entry/610951
  • http://www.orpha.net/ORDO/Orphanet_228366
  • http://identifiers.org/mesh/C563989
has exact synonym
  • CLN7
  • neuronal ceroid lipofuscinosis type 7
  • MFSD8 neuronal ceroid lipofuscinosis
  • neuronal ceroid lipofuscinosis 7
  • neuronal ceroid lipofuscinosis caused by mutation in MFSD8
  • ceroid lipofuscinosis, neuronal, type 7
has related synonym
  • CLN7 disease, late infantile
  • ceroid lipofuscinosis, neuronal, 7
  • CLN7 disease
id
  • MONDO:0012588
seeAlso
  • https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7