Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0337443 Sodium measurement phenotype Laboratory Procedure 11
C0403553 Renal dysplasia and retinal aplasia (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome genetic disease 11
C0520572 Enzymopathy group Nutritional and Metabolic Diseases Disease or Syndrome 11
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 11
C1879645 Adverse Event by CTCAE Category phenotype Finding 11
C4721541 PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 11
C0037773 Spastic Paraplegia, Hereditary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 10
C0079504 Hermanski-Pudlak Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 10
C0265275 Jeune thoracic dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 10
C0282577 Congenital Disorders of Glycosylation group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 10
C2919142 Short Stature, CTCAE phenotype Finding 10
C0038644 Sudden infant death syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome syndrome 9
C0152171 Idiopathic pulmonary hypertension disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 9
C0265338 Coffin-Siris syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; syndrome; disease of mental health 9
C1846142 HOYERAAL-HREIDARSSON SYNDROME disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; disease of anatomical entity 9
C4049702 Focal Segmental Glomerulosclerosis, Not Otherwise Specified disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9
C4087273 C3 glomerulopathy disease Disease or Syndrome 9
C0206157 Myopathies, Nemaline disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 8
C0342482 X-linked Adrenal Hypoplasia disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 8
C0342573 PITUITARY DWARFISM I disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Congenital Abnormality disease of anatomical entity 8
C1142166 Brugada Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 8
C2677504 AUTISM, SUSCEPTIBILITY TO, 15 disease Finding 8
C4225275 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 disease Disease or Syndrome genetic disease; disease of mental health 8
C4317224 Congenital disorder of glycosylation type 1q disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 8
C0004138 Ataxias, Hereditary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 7