Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C0024299 Lymphoma group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 1548 91
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1261 77
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 845 61
C0015672 Fatigue phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 760 67
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 725 80
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 595 57
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 590 77
C0151786 Muscle Weakness phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the musculature 536 87
C0013274 Patent ductus arteriosus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 510 56
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 417 30
C0231528 Myalgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom disease of anatomical entity Constitutional symptom 226 22
C0086437 Joint laxity phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the skeletal system 224 15
C0013404 Dyspnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 222 26
C0034012 Delayed Puberty phenotype Endocrine System Diseases Pathologic Function Abnormality of the endocrine system; Growth abnormality 196 21
C1836047 Long face phenotype Finding Abnormality of head or neck 182 12
C0349639 Juvenile Myelomonocytic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 179 70
C0423798 Increased tendency to bruise phenotype Wounds and Injuries Finding Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 133 14
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 129 21
C1859778 Postnatal growth retardation phenotype Finding Growth abnormality 121 11
C0206733 Strawberry nevus of skin disease Neoplasms Neoplastic Process disease of anatomical entity Neoplasm; Abnormality of the cardiovascular system 112 10
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 106 40
C1839758 Narrow forehead phenotype Finding Abnormality of head or neck 106 20
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 85 187