Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4755276 Primary CD59 deficiency disease Nervous System Diseases Disease or Syndrome 1
C4755273 Syndromic multisystem autoimmune disease due to ITCH deficiency disease Immune System Diseases Disease or Syndrome 1
C4755251 Congenital neutropenia, myelofibrosis, nephromegaly syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1
C4751204 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome 1
C4751077 Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1
C4750999 Ocular albinism with congenital sensorineural deafness disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1
C4749905 Methylmalonic aciduria due to transcobalamin receptor defect disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C4749033 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 disease Disease or Syndrome 1
C4749028 CILIARY DYSKINESIA, PRIMARY, 40 disease Disease or Syndrome 1
C4749023 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 disease Disease or Syndrome 1
C4749014 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA disease Disease or Syndrome 1
C4749003 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT disease Disease or Syndrome 1
C4748993 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT disease Disease or Syndrome 1
C4748988 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 disease Disease or Syndrome 1
C4748946 CARDIAC-UROGENITAL SYNDROME disease Disease or Syndrome 1
C4748940 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G disease Disease or Syndrome 1
C4748934 NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY disease Disease or Syndrome 1
C4748927 MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS disease Disease or Syndrome genetic disease; disease of mental health 1
C4748898 TRICHOHEPATONEURODEVELOPMENTAL SYNDROME disease Disease or Syndrome 1
C4748876 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 phenotype Finding 1
C4748873 PONTOCEREBELLAR HYPOPLASIA, TYPE 12 disease Disease or Syndrome 1
C4748841 CILIARY DYSKINESIA, PRIMARY, 39 disease Disease or Syndrome 1
C4748840 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 disease Disease or Syndrome 1
C4748839 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 disease Disease or Syndrome 1
C4748838 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 disease Disease or Syndrome 1