DisMech Notebook

The DisMech Notebook skill maps the Monarch Initiative’s DisMech rare disease corpus into the Alhazen notebook’s information content entity (ICE) model. It acts as a GLAV (Global-as-View/Local-as-View) bridge between the standalone DisMech knowledge base and the Alhazen notebook memory system.

What It Does

The DisMech knowledge base is a separately curated TypeDB database containing 750+ rare disease mechanisms. This skill provides a read-through interface that queries the DisMech KB and maps results into the Alhazen notebook’s entity model, enabling cross-referencing with other skills (scientific literature, agentic memory).

Architecture

DisMech KB (separate TypeDB database)
    ↓  GLAV mapping
DisMech Notebook (Alhazen notebook namespace)
    ↓  Standard aboutness/tagging
Other Alhazen skills (scientific-literature, agentic-memory)

The skill depends on dismech (the standalone KB skill) being available and loaded in a separate TypeDB database.

Data Model

DisMech Source Alhazen Target Purpose
Disease dm-disease (domain-thing) Rare disease entry
Mechanism dm-mechanism (domain-thing) Disease mechanism
Gene dm-gene (domain-thing) Causal/correlated gene
Phenotype dm-phenotype (domain-thing) Clinical phenotype (HPO)
Process dm-process (domain-thing) Biological process
Cell Type dm-celltype (domain-thing) Affected cell type
Evidence dm-evidence-note (note) Literature evidence for mechanism edges

Key Commands

# Statistics
uv run python dismech_notebook.py stats

# Browse diseases
uv run python dismech_notebook.py list-diseases --limit 50
uv run python dismech_notebook.py list-diseases --category "neurodegenerative"

# Disease detail
uv run python dismech_notebook.py show-disease --name "Huntington disease"

# Search
uv run python dismech_notebook.py search --query "mitochondrial dysfunction" --limit 20

When to Use

  • Browsing rare disease mechanisms curated from the literature
  • Cross-referencing disease genes/phenotypes with scientific literature searches
  • Finding evidence-backed mechanism pathways for a known diagnosis
  • Exploring which diseases share common mechanisms or affected pathways

Relationship to DisMech Skill

The standalone dismech skill operates on its own TypeDB database with the full DisMech schema. This dismech-notebook skill provides the bridge layer that makes DisMech data accessible through the standard Alhazen notebook interfaces (aboutness, tagging, collection membership).