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ARI Disease Metadata Manager

Public editor: https://aurint.ca/ari-editor/

This repository contains the curated autoimmune disease data, ontology artifacts, and generated reports that support the ARI Disease Metadata Manager v2 shown on the public site.

The editor is the main interface for reviewing and maintaining autoimmune disease metadata. It presents the curated registry as a searchable, editable catalog with disease detail panels and source-linked outputs.

What the editor does

  • Search diseases, synonyms, and codes
  • Create new disease entries
  • Search by symptoms
  • Browse diseases alphabetically or by tissue target
  • Review disease details in a split-pane layout
  • Toggle edit mode for record maintenance
  • Adjust settings and theme
  • Display supporting panels, graphs, and ontology metadata in the footer

Project scope

This repository supports the curated disease model behind the editor:

  • Core disease records with ARI IDs and IRIs
  • Synonyms, subtypes, definitions, and evidence metadata
  • SNOMED, OMOP, DX code, and DOID mappings
  • Proposed diseases and proposed changes
  • Supplemental per-disease reports and indexes
  • Grounding workflows for local ontology matching

Main directories

Path Purpose
data/ Master list instructions, report outputs, and supporting source tables
data_model/ Reference spreadsheets and model snapshots
mappings/ ARI equivalency and SSSOM mapping exports
notebook/ Notebook-driven data preparation and grounding scripts
ontologies/ ARI ontology artifacts
sparql/ SPARQL queries and generated term sets

Key outputs

  • data/4-reports/1_Core_ARI_Diseases.xlsx
  • data/4-reports/2_Proposed_Diseases.xlsx
  • data/4-reports/3_Proposed_Changes.xlsx
  • data/4-reports/4_Additional_Info_Index.xlsx
  • data/4-reports/5_DOID_Mapping.xlsx
  • data/4-reports/6_DOID_Matches_All.xlsx
  • data/4-reports/7_SNOMED_Matches_All.xlsx

Grounding workflow

The grounding pipeline in notebook/ari-grounding/ builds local DOID and SNOMED matches from repository data only.

Scripts run in this order:

  1. parse_doid_local.py
  2. ground_doid.py
  3. ground_snomed.py
  4. make_match_reports.py

Source data

Primary inputs are the master list in data/1-master/ and the supporting files in data/3-meta-database-sources/, ontologies/, mappings/, and sparql/results/.

Working rules

  • Prefer the curated master list as the source of truth.
  • Keep changes surgical and focused on one data path at a time.
  • Use local ontology and report artifacts rather than online sources when generating matching outputs.
  • Do not read .env files unless explicitly authorized.

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