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Table 4 Top 15 diseases with the highest degree in bipartite graphs generated from the HPO-Orphanet, EMR, and HPO-Orphanet+

From: Rare disease knowledge enrichment through a data-driven approach

HPO-Orphanet Graph EMR Graph HPO-Orphanet+ Graph
22q11.2 deletion syndrome multiple myeloma multiple myeloma
melas hodgkin lymphoma hodgkin lymphoma
granulomatosis with polyangiitis follicular lymphoma giant cell arteritis
marfan syndrome giant cell arteritis follicular lymphoma
neurofibromatosis type 1 primary sclerosing cholangitis primary sclerosing cholangitis
trisomy 18 myasthenia gravis 22q11.2 deletion syndrome
eosinophilic granulomatosis with polyangiitis granulomatosis with polyangiitis granulomatosis with polyangiitis
giant cell arteritis pulmonary arterial hypertension melas
acromegaly liposarcoma myasthenia gravis
primary sclerosing cholangitis eosinophilic esophagitis rheumatic fever
systemic sclerosis rheumatic fever marfan syndrome
dermatomyositis klatskin tumor dermatomyositis
osteogenesis imperfecta tetralogy of fallot pulmonary arterial hypertension
addison disease cystic fibrosis craniopharyngioma
cushing syndrome craniopharyngioma neurofibromatosis type1