Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0154860 Hereditary retinal dystrophy group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 40
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
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
C0027888 Hereditary Motor and Sensory Neuropathies group 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
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 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
C1527336 Sjogren's Syndrome disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 17
C0012236 DiGeorge Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 15
C2676033 Hepatoblastoma Caused By Somatic Mutation disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 15
C0032197 Platelet Storage Pool Deficiency disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 14
C0869083 Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM disease Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder 14
C0022521 Kartagener Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 13
C0032897 Prader-Willi Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 13
C0041671 Attention Deficit Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 13