Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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 1258
C0575081 Gait abnormality group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 299
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 296
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 290
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 260
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 229
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 220
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 182
C4721453 Peripheral Nervous System Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 178
C0024523 Malabsorption Syndrome group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 175
C0851578 Sleep Disorders group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 167
C0085584 Encephalopathies group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 161
C0021051 Immunologic Deficiency Syndromes group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 158
C0149931 Migraine Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 137
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 128
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 128
C0027726 Nephrotic Syndrome group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the genitourinary system 124
C0037822 Speech Disorders group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of mental health Abnormality of the nervous system 124
C0035309 Retinal Diseases group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 108
C0266589 Congenital ear anomaly NOS (disorder) group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the ear 107
C0029422 Osteochondrodysplasias group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity Abnormality of the skeletal system 103
C0022658 Kidney Diseases group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 94
C4021800 Abnormality of dental enamel group Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 90
C0242422 Parkinsonian Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 85
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 82