EpilepsyOntology

Last uploaded: November 8, 2021
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Preferred Name

sphingolipidosis
Synonyms

Sphingolipidosis

sphingolipidoses
Definitions

A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
ID

http://purl.obolibrary.org/obo/DOID_1927
database_cross_reference

ICD10CM:E75.3

MESH:D013106

NCI:C117254

SNOMEDCT_US_2018_03_01:58459009

UMLS_CUI:C0037899

GARD:7672
has exact synonym

Sphingolipidosis

sphingolipidoses
has_obo_namespace

disease_ontology
id

DOID:1927
imported from

http://purl.obolibrary.org/obo/doid.owl
in subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
label

sphingolipidosis
notation

DOID:1927
prefLabel

sphingolipidosis
文本定义

A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
subClassOf

http://purl.obolibrary.org/obo/DOID_9455
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1927 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1927 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1927 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1927 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1927 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1927 ODAE SAME_URI
http://purl.obolibrary.org/obo/DOID_1927 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1927 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019255 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019255 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_79225 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11251 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C117254 BERO LOOM
http://purl.obolibrary.org/obo/DOID_1927 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1927 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1927 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1927 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1927 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1927 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_1927 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1927 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/238028008 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0019255 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019255 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0019255 KTAO LOOM
http://purl.bioontology.org/ontology/CSP/1849-8462 CRISP LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1927 NATPRO LOOM
http://radlex.org/RID/RID34777 RADLEX LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117254 NCIT LOOM
http://purl.bioontology.org/ontology/RCD/X40VC RCD LOOM