Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1856301 GSD IV, Classic Hepatic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 8
C1856304 GSD IV, Neuromuscular Form, Congenital disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 6
C4017118 ADULT POLYGLUCOSAN BODY NEUROPATHY disease Finding 1 5
C4017114 GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC phenotype Finding 1 2
C4017117 GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR phenotype Finding 1 2
C1856305 GSD IV, Neuromuscular Form, Childhood disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 1
C4017116 GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC phenotype Finding 1 1
C1856303 GSD IV, Neuromuscular Form, Fatal Perinatal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 0
C1856309 Fetal hydrops (in perinatal or congenital neuromuscular forms) phenotype Finding 1 0
C1849722 Polyglucosan Body Disease, Adult Form disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 7
C0017922 Glycogen Storage Disease Type III disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 8 125
C1854678 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; syndrome 8 13
C0265261 Multiple pterygium syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease; syndrome 9 11
C0017923 Glycogen Storage Disease Type IV disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 10 21
C0795956 Chylomicron retention disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 10 6
C0342790 Carnitine palmitoyl transferase 2 deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 11 29
C3151520 Early severe fetal akinesia sequence phenotype Finding Abnormality of prenatal development or birth 12 15
C4025723 Abnormal upper motor neuron morphology disease Anatomical Abnormality Abnormality of the nervous system 20 1
C1969443 Trifunctional Protein Deficiency With Myopathy And Neuropathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 23 34
C0032708 Disorders of Porphyrin Metabolism group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 26 7
C1843663 Urinary bladder sphincter dysfunction phenotype Finding Abnormality of the genitourinary system 28 1
C0270971 Floppy infant syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the musculature 31 6
C1276035 Pena-Shokeir syndrome type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease Abnormality of prenatal development or birth 40 21
C0270790 Quadriparesis phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 42 5
C0005697 Neurogenic Urinary Bladder disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 43 9