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CompoundsSubstances with curated findings
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ProteinsTransporters and enzymes
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ReactionsRhea and Human-GEM, by subsystem
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PathwaysReactions grouped under one name
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Reference

Evidence

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Outcomes
Proteins
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Chemistry

Reactions
Reach

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Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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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

bulbospinal muscular atrophy

MONDO:0016113Mondo

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Findings

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

Where it sits

A kind of: spinal muscular atrophy
Narrower terms (3): pontocerebellar hypoplasia type 1
pontocerebellar hypoplasia type 2
spinal atrophy-ophthalmoplegia-pyramidal syndrome

Other names

3 names

Resolves to: bulbospinal muscular atrophy

Also called: SBMAspinal and bulbal muscular atrophyspinal-bulbar muscular atrophy