National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Neuronal Ceroid Lipofuscinosis
Synonyms

Neuronal ceroid lipofuscinosis

Neuronal Ceroid Lipofuscinosis
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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61257
code

C61257
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193197

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193006
Contributing_Source

mCode
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.
FULL_SYN

Neuronal ceroid lipofuscinosis

Neuronal Ceroid Lipofuscinosis
label

Neuronal Ceroid Lipofuscinosis
Legacy Concept Name

Neuronal_Ceroid_Lipofuscinosis
Preferred_Name

Neuronal Ceroid Lipofuscinosis
prefixIRI

Thesaurus:C61257
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0027877
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816
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http://purl.obolibrary.org/obo/MONDO_0016295 MONDO LOOM
http://purl.obolibrary.org/obo/ND_0000137 NDDO LOOM
http://purl.obolibrary.org/obo/ND_0000137 NIO LOOM
http://purl.bioontology.org/ontology/CSP/1849-6833 CRISP LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/42012007 SNOMEDCT LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12831 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12831 NIFSTD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10074607 MEDDRA LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12831 BIRNLEX LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/untitled-ontology-14#IRD_6_72 HAMIDEHSGH LOOM
http://purl.obolibrary.org/obo/DOID_14503 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14503 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14503 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14503 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14503 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_14503 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14503 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14503 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14503 FNS-H LOOM
rgo:26676 GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D6-77100 SNMI LOOM
http://www.orpha.net/ORDO/Orphanet_216 ORDO LOOM
http://purl.bioontology.org/ontology/ICD10/E75.4 ICD10 LOOM
http://purl.jp/bio/4/id/200906041927644651 IOBC LOOM
http://purl.obolibrary.org/obo/MONDO_0016295 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016295 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016295 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14503 NATPRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Neuronal_Ceroid_Lipofuscinosis CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_650 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C61257 BERO LOOM
http://purl.bioontology.org/ontology/RCD/X40Vv RCD LOOM
http://nanbyodata.jp/ontology/NANDO_1200150 NANDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0027877 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#8655 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.4 ICD10CM LOOM