Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0373595 Creatinine clearance measurement phenotype Laboratory Procedure 0 51
C1969810 FEBRILE CONVULSIONS, FAMILIAL, 8 disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 0 13
C0523708 5-Hydroxyindoleacetic acid measurement phenotype Laboratory Procedure 0 5
C1720994 Eye Movement Measurements phenotype Diagnostic Procedure 0 4
C4304347 Timothy syndrome type 2 disease Disease or Syndrome 0 4
C0268290 Severe steroid 21-hydroxylase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 0 3
C0489482 Ejection fraction (procedure) phenotype Diagnostic Procedure 0 3
C0549117 Frontal lobe syndrome disease Disease or Syndrome 0 3
C0700075 Motor restlessness phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 0 3
C2700378 Ejection fraction (finding) phenotype Finding 0 3
C3540839 Neonatal Drug Withdrawal disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 0 3
C0011320 Dens in Dente disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 0 2
C0085666 Spider nevus disease Neoplasms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 0 2
C0203860 Imaging of brain phenotype Diagnostic Procedure 0 2
C0227791 Vaginal Discharge phenotype Female Urogenital Diseases and Pregnancy Complications Finding disease of anatomical entity 0 2
C0272006 Unstable hemoglobin disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 0 2
C0341479 Infected pancreatic necrosis disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 0 2
C0373785 Thrombomodulin Assay phenotype Laboratory Procedure 0 2
C0406347 Disseminated superficial porokeratosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 0 2
C0523807 Oxygen saturation measurement phenotype Laboratory Procedure 0 2
C0557163 Household income phenotype Finding 0 2
C0696105 Beta carotene measurement phenotype Laboratory Procedure 0 2
C0863104 Neck discomfort phenotype Sign or Symptom 0 2
C1833590 ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC disease Finding 0 2
C2674081 Skin/Hair/Eye Pigmentation, Variation In, 7 phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 0 2