Disease Classifications

Classification of channelopathies by primary organ system affected. Used to tag diseases caused by ion channel dysfunction.

Part-level classification for organizing disorders by organ system and clinical domain, following the high-level structure of Harrison's Principles of Internal Medicine.

Histological/morphological classification of cancers based on ICD-O morphology axis. Applies only to neoplastic diseases. Single-inheritance hierarchy.

Mechanistic (biochemical-pathway) classification of inherited metabolic disorders following the consensus International Classification of Inherited Metabolic Disorders (ICIMD; Ferreira CR, Rahman S, Keller M, Zschocke J & ICIMD Advisory Group, J Inherit Metab Dis 2021;44(1):164-177; PMID:33340416, DOI:10.1002/jimd.12348). ICIMD is a three-level hierarchy — 24 categories (layer 1) over 124 disease groups (layer 2) over ~1,450 individual disorders (layer 3). This enum encodes layers 1 and 2 as a single hierarchical permissible-value set: each category is a top-level value, and each group declares its parent category via ``is_a``. Curators should assign the most specific applicable node (usually a group); the parent category is then derivable through ``is_a``. Both category- and group-level values are valid assignments, so an entry may be tagged at category level when the specific group is unknown. Provenance note: the category set and group membership are transcribed from the ICIMD paper's Results section (the 24 numbered categories) and its Figure 1 sunburst (the group ring). The groups here are the primary ("group"-ring) nodes of that sunburst; a handful of the deepest glycosylation and glycerophospholipid subdivisions are folded into their parent group, so this enum carries 113 groups rather than the paper's headline 124. The eight ICIMD "super-domains" (e.g. "Intermediary metabolism: nutrients") sit ABOVE the category level and are recorded in the category descriptions rather than as separate enum nodes.

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

Biochemical classification of lysosomal storage diseases based on the type of accumulated substrate. Applies only to diseases caused by lysosomal enzyme deficiencies.

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.

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.