BioAssay Ontology

Last uploaded: February 21, 2024
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

SNOMEDCT_US_2020_03_01:58459009

ICD10CM:E75.3

MESH:D013106

NCI:C117254

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

textual definition

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 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/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 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.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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

Term Label (required)
Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.

Justification (optional)
Provide any additional information about the requested term here.

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