DisMech Data Model

A curated map of the DisMech schema. The schema has ~100 classes; this page surfaces the ones you actually reach for when curating a disorder, grouped by what they describe. Each link goes to the full auto-generated page for that class.

The complete, always-up-to-date reference is generated from the schema — see the Schema Reference for every class, slot, enum, and type. This page is the hand-curated entry point into it.

Core entity

The spine of every entry: one disease, optionally split into subtypes.

Class	What it is
Disease	The top-level entry. Everything else hangs off it.
Subtype	A named subdivision of a disease (has_subtypes); the foreign-key target other sections reference via subtype.
Genetic	Gene/variant-level genetic findings for the disease or a subtype.
GeneticContext	The genetic scope under which a scoped assertion holds — see the phenotype-context primer.

Mechanism (pathophysiology)

How the disease actually works — the causal mechanism graph.

Class	What it is
Pathophysiology	A node in the mechanism graph: a pathological process with cell types, biological processes, and evidence.
CausalEdge	A directed downstream link between mechanism nodes, optionally tagged with hypothesis groups.
Mechanism	A higher-level mechanism grouping.
MechanisticHypothesis	Canonical / alternative / emerging mechanism models, referenced by causal edges.

Mechanism modules and the conforms_to pattern are explained in the Modules & Conformance primer.

Clinical presentation

What the disease looks like in patients.

Class	What it is
Phenotype	A disease–phenotype association (HPO-bound), with frequency, onset, and evidence.
PhenotypeContext	A scoped phenotype assertion (by subtype, genetic context, etc.).
PhenotypeDescriptor	The HPO term binding plus post-composition (modifier, laterality, onset, temporality, severity).
Demographics / Prevalence	Population-level descriptors.
ProgressionInfo	Natural-history / disease-course information.
HistopathologyFinding	Tissue-level pathology findings.
Biochemical	Lab markers, with optional LOINC-coded reference ranges and interpretation bands.

Evidence & provenance

Every claim is backed by a citable source.

Class	What it is
EvidenceItem	A PMID/DOI/structured reference with an exact snippet, supports verdict, and evidence_source. Used everywhere.
Definition	Computable phenotype / cohort definitions for the disease.
Dataset	Linked datasets (e.g. MorPhiC perturbation data).
ClinicalTrial	Trials validated against ClinicalTrials.gov.

Therapeutics

How the disease is treated, linked back to the mechanism it targets.

Class	What it is
Treatment	A treatment, with target_phenotypes, target_mechanisms, therapeutic_modality, and therapeutic_agent.
TreatmentDescriptor	The MAXO/NCIT action binding plus therapeutic agent(s).
TreatmentMechanismTarget	The mechanism node a treatment acts on.

Descriptors & post-composition

The reusable building blocks that bind free text to ontology terms. The two-field contract (preferred_term vs term.label) is covered in the Preferred Term vs Ontology Label primer.

Class	What it is
CellTypeDescriptor	CL cell-type binding.
BiologicalProcessDescriptor	GO process binding.
AnatomicalEntityDescriptor	UBERON anatomy binding.
ModelVariableDescriptor	Computational-model variable thresholds (distinct from clinical reference ranges).

Classification & cross-references

Where the disease sits in the broader taxonomies.

Class	What it is
DiseaseClassifications	The classifications block (Harrison's part, mechanistic nosology, etc.).
DiseaseMappings	MONDO/ICD/NCIT cross-references.
ComorbidityAssociation	Disease-trajectory / comorbidity links.

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