Skip to main content

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