Disorder Mechanisms Knowledge Base

A curated, evidence-backed knowledge base of disease pathophysiology, phenotypes, and treatments linked to authoritative ontologies.

How It Works

Structured YAML

Each disorder is stored as a human-readable YAML file with pathophysiology, phenotypes, genetic factors, and treatments.

Ontology-Linked

All entities are mapped to authoritative ontologies: HPO for phenotypes, MAXO for treatments, GO for processes, and more.

Evidence-Based

Every claim is backed by PubMed citations with exact quotes, verified against abstracts to prevent misinformation.

AI-Assisted Curation

AI agents help curate and expand the knowledge base, with automated validation to catch errors and hallucinations.

Schema Validated

LinkML schema ensures data integrity with automated checks for structure, term validity, and reference accuracy.

Open Source

Fully open source with version-controlled YAML files. Contribute via pull requests or use the data in your own projects.

Linked to Standard Ontologies

Every entity in dismech is mapped to authoritative biomedical ontologies, enabling interoperability and semantic precision.

HPO - Human Phenotype MAXO - Medical Actions GO - Gene Ontology MONDO - Disease CL - Cell Ontology UBERON - Anatomy CHEBI - Chemicals GENO - Genotype HGNC - Gene Names

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Search across 55 disorders with faceted filtering by phenotype, treatment, cell type, and more.

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