Knowledge Graph Extraction from Biomedical Literature for Alkaptonuria Rare Disease

Giang Pham, Rebecca Finetti, Caterina Graziani +12

Alkaptonuria (AKU) is an ultra-rare autosomal recessive metabolic disorder caused by mutations in the HGD (Homogentisate 1,2-Dioxygenase) gene, leading to a pathological accumulati…