Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1510586 Autism Spectrum Disorders disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 53
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 41
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 40
C0452138 Sensorineural hearing loss, bilateral disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the ear 33
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 30
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 29
C1415817 HETEROTAXY, VISCERAL, 2, AUTOSOMAL disease Disease or Syndrome physical disorder 29
C1844020 HETEROTAXY, VISCERAL, 1, X-LINKED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome physical disorder 29
C1853444 Heterotaxy, Visceral, 3, Autosomal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome physical disorder 29
C3151057 HETEROTAXY, VISCERAL, 4, AUTOSOMAL disease Disease or Syndrome physical disorder 29
C3151867 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED disease Disease or Syndrome physical disorder 29
C3178805 Heterotaxy Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome physical disorder 29
C3553676 HETEROTAXY, VISCERAL, 6, AUTOSOMAL disease Disease or Syndrome physical disorder 29
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 22
C0007959 Charcot-Marie-Tooth Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 21
C0011195 Dejerine-Sottas Disease (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 21
C0205713 Roussy-Levy Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 21
C1408174 Hypertrophic neuropathy of infancy disease Disease or Syndrome genetic disease; disease of anatomical entity 21
C1408182 Hereditary motor and sensory neuropathy, types I-IV disease Disease or Syndrome genetic disease; disease of anatomical entity 21
C2875300 Peroneal muscular atrophy (axonal type) (hypertrophic type) disease Disease or Syndrome genetic disease; disease of anatomical entity 21
C0029882 Otitis Media disease Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the ear 20
C0020255 Hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 18
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 17
C0009691 Congenital cataract disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 17
C0086981 Sicca Syndrome disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 17