Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0341461 Idiopathic acute pancreatitis disease Disease or Syndrome disease of anatomical entity 1 0
C1532322 Infectious Endophthalmitis disease Infections; Eye Diseases Disease or Syndrome 1 0
C2675112 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (finding) disease Finding 1 0
C0376699 Teeth, Endodontically-Treated disease Stomatognathic Diseases Disease or Syndrome 2 0
C0796081 Myhre syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 7
C2748507 INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 2
C2826320 Refractory Neutropenia disease Hemic and Lymphatic Diseases Neoplastic Process 4 1
C0152087 Crystal Arthropathies group Musculoskeletal Diseases Disease or Syndrome 4 0
C1168305 Corneal melt disease Disease or Syndrome 4 0
C4749462 New-onset refractory status epilepticus phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 0
C0153257 Primary pulmonary coccidioidomycosis disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 5 0
C0158353 Infectious Myositis disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 5 0
C0403528 Henoch-Schönlein nephritis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0
C0544796 Myositis, Proliferative disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 0
C0751357 Myositis, Focal disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 0
C0015378 Extravasation of Contrast Media phenotype Pathological Conditions, Signs and Symptoms; Wounds and Injuries Pathologic Function 6 0
C0031111 Periostitis disease Infections; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 6 0
C0235842 Decidual endometritis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 6 0
C0856737 Single vessel disease disease Cardiovascular Diseases Disease or Syndrome 6 0
C3826476 Dental caries in children disease Disease or Syndrome 6 0
C0741975 carotid disease disease Disease or Syndrome 7 5
C0267561 Perianal fistula disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Anatomical Abnormality 7 2
C4049262 Febrile infection related epilepsy syndrome disease Nervous System Diseases Disease or Syndrome 8 2
C1290638 Resorption of apex of tooth root disease Stomatognathic Diseases Disease or Syndrome 8 0
C0340291 Silent myocardial ischemia disease Cardiovascular Diseases Disease or Syndrome 9 4