Rare Disease and Phenotyping

HPO and ORDO are widely adopted phenotyping standards for rare neurological disease. HPO is the primary phenotype vocabulary in Phenopackets, the GA4GH standard for computable genotype-phenotype data exchange. ClinVar is the NCBI reference database for variant pathogenicity classifications, curated by ClinGen expert panels covering hereditary neurological diseases. MONDO harmonises disease classifications across ICD-10, OMIM, and ORDO into a single hierarchy. BBMRI-ERIC promotes Phenopackets and OMOP CDM for cross-biobank discoverability across European biobank networks.