Prototype KG‑aware adaptation of the BioPortal interface. Graph pages generated from live KG‑Registry metadata; tool links go to the live BioPortal.
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HRDO

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Disease core ontology applied to Rare Diseases

KGXBioPortal ontologyvV2
Visibility: Public

A KGX transformation of the BioPortal ontology Disease core ontology applied to Rare Diseases (HRDO), produced by KG‑Bioportal. Nodes are ontology classes; edges are the relations between them.

Graph at a glance

13,964
Nodes
85,030
Edges
V2
Version
2026-09-14
Transformed

Products & downloads

KGX
KGX nodes & edges
HRDO.tar.gz
14K nodes · 85K edges
Base graph is the full graph

This ontology declares no imports, so its base graph already is its full graph; nothing separate was built.

The graph contains HRDO_nodes.tsv and HRDO_edges.tsv. Releases are incremental, so each link points at whichever release most recently rebuilt this ontology.

Biolink categories 4 categories across 13,964 nodes

DiseaseOrPhenotypicFeature5,819
NamedThing3,608
Disease3,176
PhenotypicFeature1,361

An item carrying more than one category is counted under each, so these counts can add up to more than the total.

How they were assigned 10,356 of 13,964 nodes (74.2%)

10,356inherits from a root class placed by review

10,356 of these nodes inherit a category from 4 root classes reviewed by Claude Fable 5.1 (claude-fable-5-1), in a Claude Code session with the maintainer on 2026-09-10. Not yet confirmed by a maintainer. These root classes were placed by reading them and their subclasses in the published graph, with the assistance of an AI agent. The reading, the evidence, and the refusals are recorded in reviewed_roots.yaml. See how categories are assigned.

Biolink categories 1 category across 85,030 edges

Association85,030

An item carrying more than one category is counted under each, so these counts can add up to more than the total.