Preferred Name

sphingolipidosis
Synonyms

sphingolipidoses

Definitions

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

ID

http://purl.obolibrary.org/obo/MONDO_0019255

altLabel

sphingolipidoses

definition

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

has_exact_synonym

sphingolipidoses

label

sphingolipidosis

prefixIRI

MONDO:0019255

prefLabel

sphingolipidosis

seeAlso

https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis

textual definition

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019245

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http://purl.obolibrary.org/obo/MONDO_0019255 MONDO SAME_URI
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http://purl.obolibrary.org/obo/MONDO_0019255 CCONT LOOM
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http://purl.obolibrary.org/obo/MONDO_0019255 KTAO LOOM
http://purl.bioontology.org/ontology/CSP/1849-8462 CRISP LOOM
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http://www.radlex.org/RID/RID34777 RADLEX LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C117254 NCIT LOOM
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