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Reference

Evidence

Compounds
Outcomes
Proteins
Interactions
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Articles

Chemistry

Reactions
Reach

Reference layer

Pathways
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

adult familial nephronophthisis-spastic quadriparesia syndrome

MONDO:0017044Mondo

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Findings

No curated finding names adult familial nephronophthisis-spastic quadriparesia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.

Definition from the Mondo Disease Ontology (MONDO:0017044), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: familial cystic renal disease