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 |