Ontology

MEDGEN

MedGen

MedGen is a portal for information about conditions and phenotypes related to Medical Genetics. Terms from multiple sources are aggregated into concepts, each of which is assigned a unique identifier and a preferred name and symbol. The core content of the record may include names, identifiers used by other databases, mode of inheritance, clinical features, and map location of the loci affecting the disorder.

bibliography/documentsgenome/genehealth/diseaseontologyontology/terminology/nomenclaturephenotype
E33

FAIR 23/48

Version file of 2026-10-25

Evaluated 26 Oct 2026

How scores work

Source & access

Homepagencbi.nlm.nih.gov DownloadCanonical file / PURL Browse in OLSEMBL-EBI Ontology Lookup Service

Portals & registries

SourceIDVersionClassesPropertiesIndividualsLoaded
OLS (EMBL-EBI)medgen—468,772165025 Oct 2026

Ontology IRI http://purl.obolibrary.org/obo/medgen.owl

Languages en

Also registered as
ols: medgen

Automated evaluation

F Findable FAIR3/12
  • Persistent identifier (F1)no PURL / w3id / DOI for the artefact0
  • Indexed in services (F4)2: OLS, Bioregistry+3
  • Citable reference (F2)no reference publication listed0
A Accessible FAIR12/12
  • Homepage reachableHTTP 200+3
  • Artefact retrievable over HTTP(S) (A1)download HTTP 200+6
  • Metadata persists in a registry (A2)Bioregistry+3
I Interoperable FAIR8/12
  • Formal machine-readable format (I1)OWL, OBO, RDF+5
  • Semantic-web IRIs (I2)OWL, OBO, RDF+3
  • References other vocabularies (I3)no imported vocabularies found0
R Reusable FAIR0/12
  • Clear license (R1.1)none found0
  • Release provenance (R1.2)no version in artefact, registry or release tags0
  • Community standards (R1.3)no independent compliance report (not on the OBO Dashboard)0
Q Ontology consistency & quality0/20
  • Logical consistencynever checked by a reasoner0
  • OWL 2 DL profileprofile not checked0
  • Upper-ontology alignmentno BFO/COB/DOLCE import found0
  • Standard relations (RO)does not import the Relation Ontology0
  • ROBOT report: no errorsno ROBOT report available0
  • ROBOT report: warning densityno ROBOT report available0
  • Pitfall scan: no critical pitfallsno pitfall scan or ROBOT report yet0
M Maintenance10/16
  • Recency2026-10-25 → 0.0 months (≤ 3 months)+10
  • Release cadence (12 months)0 releases0
U Community adoption0/16
  • Documented adopting projects0 projects0
  • Reused by other ontologies00
  • Community signalmax(stars 0 → 0, citations 0 → 0)0
P Penalties (inactivity & inconsistency)0
  • Time since last activity0.0 years → 4 × max(0, 0.0 − 1)0
  • Inactive statusnot archived, legacy or inactive0
  • Consistencynot yet checked by a reasoner0

FAIR subtotal 23/48 · earned 33/100 = 33/100 → grade E

Community adoption 0

No adopting projects documented yet.

Know a project that uses MEDGEN? Suggest it.

History & changes 1 run

History starts with the first archived run; changes appear after the next evaluation.

RunScoreFAIRVersion evaluatedTermsSnapshot
26 Oct 2026, 03:31 UTC33 E23file of 2026-10-25468,772JSON

Provenance

Every fact on this page was fetched automatically. Each row shows where it came from and when. If a source fails, the last good value is kept and marked “carried forward”.

FactSourceRetrieved
Homepage link check (HTTP 200)ncbi.nlm.nih.gov26 Oct 2026, 03:05 UTC
Download link check (HTTP 200)github.com26 Oct 2026, 03:05 UTC
Artefact headerrelease-assets.githubusercontent.com26 Oct 2026, 03:05 UTC
OLS classes, imports, version & releaseebi.ac.uk26 Oct 2026, 03:05 UTC
Bioregistry mappings, dependencies & reusebioregistry.io26 Oct 2026, 03:05 UTC

Run 2026-10-26T02-37-38Z · evaluator v2.0.0 · rubric v3.4 · entry.json · run snapshot