Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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 596
C0009207 Cockayne Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 3
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 561
C3151063 MACULAR DEGENERATION, AGE-RELATED, 5 disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
C0751038 Cockayne Syndrome, Type II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1
C3551173 UV-SENSITIVE SYNDROME 1 disease Disease or Syndrome genetic disease 1
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1259
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 103
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 70
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 855
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 117
C0007120 Bronchioloalveolar Adenocarcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 18
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 1292
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 803
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 682
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 622
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 508
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 371
C1565489 Renal Insufficiency disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 253
C0029456 Osteoporosis disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 223
C0020619 Hypogonadism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the endocrine system 220
C0026010 Microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 208
C0035334 Retinitis Pigmentosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 199
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 196