Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 191
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 181
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 176
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 170
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 163
C1145670 Respiratory Failure disease Respiratory Tract Diseases Disease or Syndrome Abnormality of the respiratory system 162
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 159
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 157
C0020615 Hypoglycemia disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism; disease of anatomical entity Abnormality of metabolism/homeostasis 153
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C0240063 Coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality Abnormality of the eye 146
C1839739 Thick lower lip vermilion phenotype Finding Abnormality of head or neck 145
C0266551 Congenital coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity 144
C0020757 Ichthyoses disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 141
C0575158 Kyphoscoliosis deformity of spine disease Musculoskeletal Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the skeletal system 141
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 136
C0345392 Congenital kyphoscoliosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 136
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0423113 Telecanthus phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck 134
C1849089 Broad forehead phenotype Finding Abnormality of head or neck 133
C0158731 Congenital pectus carinatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 128
C0426429 Broad nasal tip phenotype Finding Abnormality of head or neck 125
C3805574 Increased fracture rate phenotype Finding Abnormality of the skeletal system 123
C4025846 Abnormality of vision disease Finding Abnormality of the eye 122
C0034194 Pyloric Stenosis phenotype Digestive System Diseases Pathologic Function disease of anatomical entity Abnormality of the digestive system 121