Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0015397 Disorder of eye group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 211
C0152427 Polydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality physical disorder Abnormality of limbs; Abnormality of the skeletal system 112
C4277690 Ciliopathies disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 109
C4521256 Glomerulopathy Assessment phenotype Diagnostic Procedure 23
C0268731 Renal glomerular disease group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 23
C3714506 Meckel syndrome type 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 18
C0687120 Nephronophthisis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease Abnormality of the genitourinary system 13
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
C2673885 Renal hepatic pancreatic dysplasia Dandy Walker cyst disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome genetic disease; syndrome 2
C2673883 RENAL-HEPATIC-PANCREATIC DYSPLASIA disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome physical disorder 2
C1858392 NEPHRONOPHTHISIS 3 disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease 1
C3715199 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 disease Disease or Syndrome physical disorder 1