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Table 5 Top 15 differential diagnostic candidates for the HPO-Orphanet+ graph, Phenomizer, and eRAM on Hodgkin lymphoma. Scores in column 1 and 3 indicate Jaccard similarity and scores in column 2 indicate the IC-based score calculated by the Phenomizer (CD stands for common disease, and RD stands for rare disease)

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

HPO-Orphanet+ Graph

Phenomizer

eRAM

B-cell lymphoma (RD): 0.626

Classic hodgkin lymphoma (RD): 3.986

Nodular lymphocyte predominant hodgkin lymphoma (RD): 0.458

Diffuse large b-cell lymphoma (RD): 0.62

Behcet syndrome (RD): 3.189

Schnitzler syndrome (RD): 0.273

Chronic Obstructive Airway Disease (CD): 0.595

Aggressive systemic mastocytosis (RD): 3.176

Mantle cell lymphoma (RD): 0.25

Dilated cardiomyopathy (RD): 0.594

Alveolar echinococcosis (RD): 3.085

Pulmonary blastoma (RD): 0.25

Abdominal aortic aneurysm (RD): 0.592

Systemic lupus erythematosus (RD): 2.997

Aggressive systemic mastocytosis (RD): 0.22

Glomerulonephritis (RD): 0.591

Legionellosis (RD): 2.878

Anemia, autoimmune hemolytic (RD): 0.219

Diabetes Mellitus, Non-Insulin-Dependent (CD): 0.588

Takayasu arteritis (RD): 2.731

Hughes syndrome (RD): 0.219

Multiple myeloma (RD): 0.588

Cystic echinococcosis (RD): 2.648

Follicular lymphoma (RD): 0.214

Atrial Fibrillation (CD): 0.585

Eosinophilic granuloma (RD): 2.647

Thymic carcinoma (RD): 0.214

Glaucoma (CD): 0.58

Whipple disease (RD): 2.638

Mast cell sarcoma (RD): 0.2

Myeloid leukemia (RD): 0.58

Familial thrombocytosis (RD): 2.632

American trypanosomiasis (CD): 0.2

Coronary heart disease (CD): 0.58

Systemic mastocytosis (RD): 2.622

Alpha-heavy chain disease (RD): 0.194

Degenerative polyarthritis (CD): 0.573

Emberger syndrome (RD): 2.549

Klatskin tumor (RD): 0.192

Lung adenocarcinoma (RD): 0.572

Hypocomplementemic urticarial vasculitis (RD): 2.548

Legionellosis (RD): 0.189

Chronic Kidney Insufficiency (CD): 0.571

Babesiosis (RD): 2.499

Babesiasis (RD): 0.182