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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
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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

non-rhizomelic chondrodysplasia punctata

MONDO:0015775Mondo

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Findings

No curated finding names non-rhizomelic chondrodysplasia punctata yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.

Definition from the Mondo Disease Ontology (MONDO:0015775), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: chondrodysplasia punctata
Narrower terms (3): autosomal dominant chondrodysplasia punctata
chondrodysplasia punctata, Toriello type
X-linked chondrodysplasia punctata