Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0878659 Disproportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 77
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 53
C0543888 Epileptic encephalopathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 30
C2751260 Macrothrombocytopenia disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 5
C0265293 Frontometaphyseal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2
C4281559 FRONTOMETAPHYSEAL DYSPLASIA 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2
C0262436 Cardiac valvular dysplasia, X-linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Congenital Abnormality 1
C2746068 Congenital idiopathic intestinal pseudoobstruction disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 1
C1845902 FG SYNDROME 2 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1
C0025237 Melnick-Needles Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1
C0265251 Oto-Palato-digital syndrome type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1
C1844696 OTOPALATODIGITAL SYNDROME, TYPE II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1
C1848213 Periventricular Heterotopia, X-Linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity; physical disorder 1
C1846129 Terminal Osseous Dysplasia and Pigmentary Defects disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1