Reference

Evidence

CompoundsSubstances with curated findings
OutcomesMeasured endpoints
ProteinsTransporters and enzymes
InteractionsPairs that share biology
PapersEvery paper a finding cites
ArticlesReadings of the evidence

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
MaterialsSubstances that are not one molecule
AssessmentsRegulatory determinations, transcribed
DiseasesFeatures, genes, and where each sits

Atlas Graph Twin Access

Search the graph

Search ?

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

Loading the page.

Catalyst

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

The graph

Compounds
Outcomes
Proteins
Atlas
Interactions
Papers
Articles
Graph
Search

Reference layer

Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases
Reactions
Reach

How it works

Mission
Method
Twin
How to read the evidence
Sources and licences

Build on it

Access
In your assistant
For agents
Query the graph
Bulk export

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

Disease

STAT5 haploinsufficiency

MONDO:1060224Mondo

Open in the graph

Findings

No curated finding names STAT5 haploinsufficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

A condition characterized by haploinsufficient levels of STAT5 protein due to reduced copy number or expression of the STAT5A and/or STAT5B genes, with consequent attenuation of STAT5-mediated cytokine signalling (including IL-7 and growth hormone pathways). This condition is also associated with altered lymphocyte homeostasis and modified susceptibility to lymphoma development.

Definition from the Mondo Disease Ontology (MONDO:1060224), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: growth hormone insensitivity syndrome with immune dysregulation
inborn error of immunity

Other names

2 names

Resolves to: STAT5 haploinsufficiency

Also called: STAT5 deficiency (haploinsufficient)STAT5A/5B haploinsufficiency