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Published March 28, 2024 | Version v2024-03-28
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DiseaseOntology/HumanDiseaseOntology: DO March 2024 Release

Authors/Creators

  • 1. University of Maryland School of Medicine
  • 2. The Jackson Laboratory
  • 3. Lawrence Berkeley National Laboratory

Description

This release includes 11,537 disease terms; 8,419 SubClassOf axioms. The addition of 26 new disease terms. This month the DO was updated, we added Peroxisome biogenesis disorder and dystonia subtypes, reclassified Zellweger syndrome subtypes, updated frontotemporal dementia and/or amyotrophic lateral sclerosis and Ohdo syndrome subtype nomenclature, added neurodevelopmental disorder with poor growth and behavioral abnormalities, Stolerman neurodevelopmental syndrome, Nicolaides-Baraitser syndrome, blepharophimosis-impaired intellectual development syndrome, and microcephaly-micromelia syndrome and microcephaly, short stature, Halperin-Birk syndrome and limb abnormalities; revised Lisch epithelial corneal dystrophy.

Files

DiseaseOntology/HumanDiseaseOntology-v2024-03-28.zip

Files (71.1 MB)

Additional details

Related works

Is supplement to
Software: https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/v2024-03-28 (URL)