Accepted · AMIA 2026 Annual Symposium Research preview · Core v1.0

A brain for tracing disease back to its root causes.

OmiKG is a domain-specific knowledge graph that traces chronic disease back to its root causes, mapping the directed causal web from lifestyle and environment all the way down to clinical phenotype.

ATM Dysfunctions Systems Phenotypes
The problem

Today's medicine names symptoms. OmiKG explains them.

Existing biomedical ontologies (SNOMED CT, ICD, Gene Ontology) excel at classification but lack the causal architecture needed for chronic-disease reasoning. Chronic disease is a network disorder. OmiKG models the directed, multi-factor causal chains needed to reason from a symptom back to its true origin.

What makes it different

Six ideas at the core of OmiKG

From symptom to source

OmiKG models directed causal chains (A→B→C), not just taxonomies, so it reasons about why a symptom exists, not merely what to call it.

Reverse the river, find the root

Walk backwards from clinical phenotype to dysfunction to upstream trigger, true root-cause reasoning, not surface management.

Every claim, traceable to evidence

Each causal link carries a reference code back to its source passage, building an evidence map that general-purpose models cannot provide.

Many causes, one outcome

N-ary causal modeling captures how diet, deficiency or toxins independently converge on the same disease, beyond simple binary triples.

Synthesis before extraction

A PRISMA-aligned pipeline unifies thousands of PubMed passages before extracting knowledge, cutting noise and hallucinated relations.

Grounded in systems medicine

Built on the Functional Medicine Matrix and P4 medicine: predictive, preventive, personalized and participatory by design.

Architecture

A four-layer river of causation

Four layers (ATM → Dysfunctions → Systems → Phenotypes) and 25 categories, connected by 14 relation types aligned with SNOMED CT and the OBO Relations Ontology. The graph flows from upstream drivers to clinical outcomes, and can be read in both directions.

Layer 1 · Upstream

ATM: Antecedents, Triggers, Mediators

Lifestyle & environmental drivers: chronic stress, diet, toxins.

Layer 2

Dysfunctions

Core biological disturbances: HPA-axis dysregulation, chronic inflammation, oxidative stress.

Layer 3

Systems

Seven physiological systems as defined by the Functional Medicine framework (Communication, Defense & Repair, Biotransformation, and more).

Layer 4 · Downstream

Phenotypes

Clinical manifestations: fatigue, elevated fasting glucose, chronic pain.

Forward: model disease progression
ATM → Dysfunctions → Systems → Phenotypes traces how upstream drivers propagate to clinical outcomes.
Reverse: trace the root cause
Phenotypes → Dysfunctions → ATM powers root-cause reasoning.
Formalized in OWL
Domain–range, disjointness and cardinality constraints capture multi-factor causation rigorously.
What you can build

From one Core to many applications

OmiKG Core is the reasoning engine. Plug it into products that put root-cause intelligence to work across care, prevention and risk.

Hospitals & clinics

Clinical decision support

Give clinicians transparent, evidence-traceable reasoning at the point of care, surfacing root causes and intervention points instead of isolated symptoms.

Health coaching & wellness

Personalized health guidance

Power health coaches and digital wellness apps with individualized root-cause maps that turn lifestyle and biomarker data into tailored prevention plans.

Insurance

Risk analysis & health assessment

Help insurers move from static scores to dynamic, mechanism-based health assessment, modeling how risk factors converge over time.

Population & enterprise

Population & workforce health

Analyze the health of communities and workforces at scale, spotting shared upstream drivers to guide preventive programs.

Validated results

Molecular detail that general-purpose models miss

In a blinded expert evaluation, OmiKG identified the molecular mechanisms behind chronic disease far more completely than a leading LLM or a retrieval baseline.

88%
Molecular mechanisms identified
Across 17 expert-specified mechanisms in T2D validation (vs. 6% GPT-5.2, 0% RAG)
1,354
Entity nodes
across 25 semantic categories
2,492
Semantic triples
spanning 14 relation types
14
Relation types
aligned with SNOMED CT & OBO Relations Ontology
4
Causal layers
ATM · Dysfunctions · Systems · Phenotypes
81.8%
Mapped to UMLS
linked to standard medical concepts
Accepted for an oral presentation at the AMIA 2026 Annual Symposium · Dallas, TX
News & Core updates

Follow the evolution of OmiKG

OmiKG is a long-term research program. Every time we ship a new version of the OmiKG Core, we announce it here.

2026-06Core v1.0

OmiKG Core v1.0 released

First public release of the four-layer ontology and knowledge graph: 1,354 nodes and 2,492 evidence-linked triples (96.8% plausibility in a 250-triple expert sample), built from a PRISMA-aligned synthesis of PubMed literature.

2026-06Benchmark

Mechanism-coverage benchmark published

OmiKG identifies 88% of expert-specified molecular mechanisms, including NLRP3/IL-1β, SREBP-1c and BCAA/mTOR pathways missed by other systems.

RoadmapUpcoming

Expanding to multi-disease validation

Next versions move beyond Type 2 Diabetes to Metabolic Syndrome and PCOS, and will quantify causal strength, not just confidence that a link exists.

Building the brain behind preventive medicine.

OmiKG is being developed by OmiGroup as long-term research infrastructure for tracing chronic disease back to its root causes. Partner with us, or follow the research.

Contact

Get in touch

Interested in OmiKG for research, clinical, or commercial collaboration? Send us a message and we'll get back to you.