Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0403554 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1
C0454651 Specific language impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1
C0751157 FRAXE Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1
C0751751 Argininosuccinic Acid Synthetase Deficiency, Complete disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1
C0796003 Juberg-Marsidi syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1
C0796195 Waisman syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1
C1291607 Deficiency of maleylacetoacetate isomerase disease Disease or Syndrome 1
C1533587 Hydroxymethylglutaric aciduria disease Disease or Syndrome 1
C1704417 Hyperlipoproteinemia Type IIb disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C1832388 Platelet Disorder, Familial, with Associated Myeloid Malignancy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 1
C1832587 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Disease or Syndrome 1
C1836892 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 disease Finding 1
C1837315 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 disease Finding 1
C1837750 Oligodontia-Colorectal Cancer Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 1
C1838547 MELANOMA-PANCREATIC CANCER SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases Disease or Syndrome 1
C1845095 DEAFNESS, X-LINKED 5 (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 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
C1847501 Glut1 Deficiency Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C1849508 EPILEPSY, PYRIDOXINE-DEPENDENT disease Nervous System Diseases Disease or Syndrome 1
C1852271 Auditory neuropathy disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1
C1853144 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1
C1853892 Dimethylglycine Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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
C1856061 Methylenetetrahydrofolate reductase deficiency disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 1
C1857252 2,4-Dienoyl-CoA Reductase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1