FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

sphingolipidosis
Synonyms
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
definition

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

http://purl.obolibrary.org/obo/doid.owl
label

sphingolipidosis
prefixIRI

DOID:1927
prefLabel

sphingolipidosis
subClassOf

http://purl.obolibrary.org/obo/DOID_9455
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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 EPIO 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/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 EPIO 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.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