Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1832200 Peroxisome biogenesis disorders group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15
C0043459 Zellweger Syndrome 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 12
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
C0002452 Amelogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 10
C0282525 Adrenoleukodystrophy, Neonatal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5
C3550234 PEROXISOME BIOGENESIS DISORDER 2B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5
C3550693 PEROXISOME BIOGENESIS DISORDER 3B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 5
C0282527 Infantile Refsum Disease (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 4
C0011351 Dental Enamel Hypoplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 2
C1856186 Deafness enamel hypoplasia nail defects disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1
C3888385 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C3553951 PEROXISOME BIOGENESIS DISORDER 7B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1