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CompoundsSubstances with curated findings
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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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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

severe hypophosphatasia

MONDO:0600009Mondo

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Findings

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

Definition

A rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.

Definition from the Mondo Disease Ontology (MONDO:0600009), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: ALPL-related autosomal recessive hypophosphatasia