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CompoundsSubstances with curated findings
OutcomesMeasured endpoints
ProteinsTransporters and enzymes
InteractionsPairs that share biology
PapersEvery paper a finding cites
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Chemistry

ReactionsRhea and Human-GEM, by subsystem
ReachWhat a compound can become

Reference layer

PathwaysReactions grouped under one name
ProcessesWhat proteins are annotated as doing
AnatomyTissues, by what is expressed there
Cell typesCells, by what is expressed there
OrganismsSpecies a compound is prepared from
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DiseasesFeatures, genes, and where each sits

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Reference

Evidence

Compounds
Outcomes
Proteins
Interactions
Papers
Articles

Chemistry

Reactions
Reach

Reference layer

Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

Atlas Graph Twin Access

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Catalyst

Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

Disease

sphingolipidosis

MONDO:0019255Mondo

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Findings

No curated finding names sphingolipidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0019255), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: lysosomal lipid storage disorder
Narrower terms (11): ASAH1-related sphingolipidosis
autosomal recessive cerebellar ataxia with late-onset spasticity
Fabry disease
gangliosidosis
Gaucher disease
Krabbe disease
metachromatic leukodystrophy
mucosulfatidosis
Niemann-Pick disease
PSAP-related sphingolipidosis
sea-blue histiocyte syndrome