Schema enum:ChannelopathyOrganSystemEnum
Classification of channelopathies by primary organ system affected. Used to tag diseases caused by ion channel dysfunction.
6 disorders
Schema enum:HarrisonsChapterEnum
Chapter-based hierarchy for organizing disorders by organ system and clinical domain, mirroring the structure used in Harrison's for browsing and reporting.
243 disorders
Schema enum:ICDOMorphologyEnum
Histological/morphological classification of cancers based on ICD-O morphology axis. Applies only to neoplastic diseases. Single-inheritance hierarchy.
103 disorders
Schema enum:IUISCategoryEnum
Classification of inborn errors of immunity based on the International Union of Immunological Societies (IUIS) Expert Committee classification. This is the gold-standard expert nosology for primary immunodeficiencies, updated biennially.
Reference: Tangye et al. J Clin Immunol (2022) - IUIS 2022 Update
0 disorders
Schema enum:LysosomalStorageEnum
Biochemical classification of lysosomal storage diseases based on the type of accumulated substrate. Applies only to diseases caused by lysosomal enzyme deficiencies.
2 disorders
Schema enum:MechanisticNosologyEnum
Classification of diseases by underlying molecular mechanism, affected pathway, or cellular structure. These "-opathy" categories group diseases that share defects in the same biological system regardless of clinical presentation.
14 disorders
Schema enum:PhenotypeCategoryEnum
Broad phenotype categories corresponding to the top-level organ-system groupings in the Human Phenotype Ontology (HPO). These are the direct children of HP:0000118 (Phenotypic abnormality) and are used to classify phenotypes by affected system.
0 disorders