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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:sphingolipidosis
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Accession:EFO:MONDO:0019255 term browser browse the term
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.
Synonyms:exact_synonym: sphingolipidoses
 alt_id: MONDO:0019255
 xref: DOID:1927;   GARD:7672;   MEDGEN:52453;   MESH:D013106;   NCI:C117254;   ORDO:79225;   SCTID:238028008;   UMLS:C0037899;   icd11.foundation:1875237176
 see_also: https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis" xsd:anyURI {source="GARD:0007672


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inherited lipid metabolism disorder 0
                lysosomal lipid storage disorder 0
                  sphingolipidosis 0
                    ASAH1-related sphingolipidosis + 0
                    Fabry disease 0
                    Gaucher disease + 0
                    Krabbe disease + 0
                    Niemann-Pick disease + 0
                    PSAP-related sphingolipidosis + 0
                    autosomal recessive cerebellar ataxia with late-onset spasticity 0
                    gangliosidosis + 0
                    metachromatic leukodystrophy + 0
                    mucosulfatidosis 0
                    sea-blue histiocyte syndrome 0
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