Article
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita.
American journal of medical genetics. Part A - 1 Aug 2025
Nematollahi Shahrzad, Hamdy Reggie C, van Bosse Harold, Li Joyce, Blanshay-Goldberg Daniel, de Vries Johanna I P, Dieterich Klaus, Filges Isabel, Bedard Tanya, Haendel Melissa, Torres Monica Munoz, Robinson Peter N, Dahan-Oliel Noémi
Abstract excerpt
Arthrogryposis multiplex congenita (AMC) represents a large, rare group of congenital conditions. This study addressed major challenges in AMC research posed by the lack of systematic frameworks for data collection and the use of inconsistent terminologies and text descriptions. We aimed to systematically review the Human Phenotype Ontology (HPO) terms, encode AMC phenotypic traits as HPO terms, and pilot test...
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