Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0009405 Hereditary Nonpolyposis Colorectal Neoplasms group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process genetic disease 21
C0154860 Hereditary retinal dystrophy group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 7
C0022680 Polycystic Kidney Diseases group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome Abnormality of the genitourinary system 2
C0238198 Gastrointestinal Stromal Tumors group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 1
C0477317 Other primary thrombocytopenia group Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 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 1
C0264893 Nodal rhythm disorder phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C0348626 Other specified cardiac arrhythmias phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C1399226 Ectopic rhythm phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C1863752 Enlarged Vestibular Aqueduct phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding disease of anatomical entity Abnormality of the ear 2
C0220993 Cystathioninuria phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1
C0268531 Hydroxyprolinemia phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 1
C0268548 Hyperargininemia phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 1
C0268563 Sarcosinemia phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 1
C0340978 May-Hegglin anomaly phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C1832830 Auditory Neuropathy, Nonsyndromic Recessive phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C1845845 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder) phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1
C1854061 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1
C2675521 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 phenotype Finding 1
C2675522 OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 phenotype Finding 1
C2676677 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 phenotype Finding 1
C2676678 OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 phenotype Finding 1
C2751584 Neurodegeneration Due To Cerebral Folate Transport Deficiency phenotype Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the nervous system 1