Article

A custom phenotypic profile for Fanconi anemia: Addressing gaps in existing disease annotations

2026-02-12

Abstract excerpt

Fanconi anemia (FA) is a rare genetic disorder of impaired DNA repair characterized by progressive bone marrow failure, congenital malformations, and cancer predisposition. Early identification of individuals with FA is critical for timely clinical management, yet phenotype-driven approaches to FA identification are hindered by inconsistencies in existing phenotypic profiles. We compared the Human Phenotype Ontolo...

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Literature Corpus work: 0e7c84cb-e866-5d23-8715-515273b22e17
DOI: 10.64898/2026.02.10.26346018

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