Disorder Mechanisms Knowledge Base

Understanding disease from gene to phenotype

1,236 disorders. 1,493 research reports. Every claim backed by evidence.

Browse Disorders
1,236 disorders
Mechanism Modules
4 conserved pathological patterns
Disease Trajectories
4 comorbidity analyses
Classifications
7 disorder groupings
Deep Research
1,493 reports browsable by disorder
Schema Docs
LinkML data model reference

See it in action: Fanconi Anemia

It starts with a gene

FANCA FANCB FANCC FANCD2 FANCI BRCA2

Biallelic mutations in FA/BRCA DNA repair pathway genes disable interstrand crosslink repair.

22 genes documented →

DNA repair fails

Core Complex Dysfunction → DNA Repair Deficiency → Genomic Instability

Without functional FA pathway, replication forks stall at crosslinks, chromosomes break.

Stem cells are lost

Genomic Instability → HSC Attrition → Bone Marrow Failure
Hematopoietic stem cell (CL:0000037)

Hematopoietic stem cells accumulate damage and are progressively depleted.

Patients present with...

Pancytopenia Short Stature Aplastic Anemia Increased Leukemia Risk Thrombocytopenia

Progressive bone marrow failure manifests as cytopenias, with cancer predisposition.

What can be done

HSCT Androgen Therapy Growth Hormone Supportive Care

HSCT is curative for hematologic disease; modulators and surveillance manage other manifestations.

Every claim is grounded

PMID:31558676 SUPPORT HUMAN_CLINICAL

"Nearly 95% of the patients tested had confirmed mutations in the Fanconi genes FANCA (67%), FANCC (13%), FANCG (14%), FANCJ (3%) and FANCD1 (2%), including twenty novel mutations."

All pathophysiology claims cite peer-reviewed literature with exact quotes verified against abstracts.

View the full Fanconi Anemia page →

Understand how a disease page is built

The detailed docs walk through the Dismech page structure, the schema-backed sections behind each disorder page, and how pathographs connect mechanisms to phenotypes, treatments, and models.

Section guide Pathograph overview Schema links
Open the detailed docs →

Explore the knowledge base in embedding space

The embeddings explorer offers a different entry point into dismech: browse disease neighborhoods, inspect cluster structure, and compare disorders by learned similarity instead of only by curated page navigation.

Open embeddings explorer →