neuronal ceroid lipofuscinosis

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Information
Disease name
neuronal ceroid lipofuscinosis
Disease ID
DOID:14503
Description
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00337636 Completed Phase 1 Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) May 2006 September 2009
NCT01966757 Completed Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities July 2013 July 2016
NCT01873924 Recruiting Clinical and Neuropsychological Investigations in Batten Disease August 2004 July 2025
NCT04613089 Recruiting Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database April 8, 2020 April 8, 2050
NCT01238315 Withdrawn Phase 1 Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis November 2010 April 2011
Disase is a (Disease Ontology)
DOID:9455
Cross Reference ID (Disease Ontology)
GARD:10739
Cross Reference ID (Disease Ontology)
ICD10CM:E75.4
Cross Reference ID (Disease Ontology)
MESH:D009472
Cross Reference ID (Disease Ontology)
MIM:PS256730
Cross Reference ID (Disease Ontology)
NCI:C61257
Cross Reference ID (Disease Ontology)
ORDO:216
Cross Reference ID (Disease Ontology)
ORDO:79262
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:42012007
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0027877
Exact Synonym (Disease Ontology)
hereditary ceroid lipofuscinosis
OrphaNumber from OrphaNet (Orphanet)
216
ICD10 preferred id (Insert disease from ICD10)
D0003890
ICD10 class code (Insert disease from ICD10)
E75.4