AI-assisted rare disease triage

Don't let rare mean
undiagnosed.

Zebreon helps general practitioners navigate the diagnostic odyssey. Structured clinical interviews, real-time phenotype matching, and cross-referenced genetic evidence, in one conversation.

Triage session
GP

6-year-old male, progressive muscle weakness in lower limbs, Gowers' sign positive, elevated CK at 15,000 U/L.

Zebreon

The combination of proximal weakness with markedly elevated CK and a positive Gowers' sign raises concern for a dystrophinopathy.

Family history of neuromuscular disease?
Yes No Unknown
300M+ people worldwide live with a rare disease
~5 yrs average time to reach a rare disease diagnosis
72% of rare diseases are genetic in origin

Everything a GP needs to spot the zebra

Guided clinical intake

A structured clinical interview with interactive widgets (single-choice, multi-select, free text, and verification cards) so clinicians answer naturally, not in forms.

Evidence aggregation

Aggregates and cross-references publicly available genetic and phenotypic knowledge bases to surface relevant candidate conditions from reported symptoms.

Ontology-driven phenotyping

Extracts and maps symptoms to standardised clinical ontology terms in real-time, enabling precise semantic matching across genetic and phenotypic knowledge bases.

Visual phenotyping

Designed to support facial phenotyping approaches, adding a visual dimension to help identify recognisable patterns associated with genetic conditions.

Growth & family history tools

Built-in growth charts based on international reference standards and an interactive pedigree editor with standard file import/export. No separate software needed.

Decision-support reports

Produces structured triage summaries with candidate differentials, suggested next steps, and relevant specialist pathways, exportable as PDF or interoperable data formats.

From symptoms to differential in minutes

1

Patient intake

Enter basic demographics, presenting symptoms, family history, and any prior investigations. Upload photos, growth data, or existing reports.

2

AI-guided interview

Zebreon asks targeted follow-up questions based on emerging phenotype patterns, confirming or excluding clinical features with each turn.

3

Evidence enrichment

Behind the scenes, standardised phenotype terms are extracted and queried across genetic and disease knowledge bases. A live evidence sidebar shows what the system is finding.

4

Triage report

A structured report with ranked conditions, confidence levels, recommended tests, gene candidates, and referral pathways. Ready to share with specialists.

Sensitive data stays where it should

PII anonymisation

Patient names and identifiers are automatically stripped before any data reaches the language model. The AI only ever sees de-identified clinical information.

Local-first architecture

Facial photos and genetic data are processed locally. Only structured, de-identified phenotype terms are sent to cloud AI for clinical reasoning.

Full audit trail

Every AI interaction is logged with session context, prompt versioning, and PII replacement counts, enabling full traceability for clinical governance.

Your infrastructure

Self-host the entire stack or use enterprise LLM endpoints with BAA/DPA agreements. You control where the data lives and who can access it.

Designed for the front line of rare disease

General practitioners

You suspect something rare but aren't sure where to start. Zebreon turns your clinical observations into structured evidence and a clear next step.

Clinical geneticists

Use the workup wizard to build comprehensive case files, manage pedigrees, and prepare structured referral packages for genetic testing labs.

Research teams

Systematically phenotype patient cohorts with standardised ontology coding, export structured data, and integrate with existing bioinformatics pipelines.

Interested in Zebreon?

We're in early development and looking for clinical partners and early adopters. Reach out and we'll get back to you.

Or reach us directly:

info@zebreon.com