Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0003962 Ascites phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 198 7
C0234133 Extrapyramidal sign phenotype Sign or Symptom Abnormality of the nervous system 116 7
C0032708 Disorders of Porphyrin Metabolism group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 26 7
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
C0030554 Paresthesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 121 8
C1866934 Reduced tendon reflexes phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 121 8
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
C0020541 Portal Hypertension disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the cardiovascular system 167 9
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
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10
C0234132 Pyramidal sign phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 155 10
C0270960 Congenital myopathy (disorder) group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 63 10
C0029438 Massive Osteolyses disease Musculoskeletal Diseases Disease or Syndrome 44 11
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
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 306 12
C0476403 Electromyogram abnormal phenotype Finding Abnormality of the musculature 130 12
C1263857 Peripheral axonal neuropathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 94 12
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
C0042024 Urinary Incontinence phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function Constitutional symptom; Abnormality of the genitourinary system 151 14
C0020305 Hydrops Fetalis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth 92 14
C3151520 Early severe fetal akinesia sequence phenotype Finding Abnormality of prenatal development or birth 12 15
C0017919 Glycogen Storage Disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 63 16
C0342751 Generalized glycogen storage disease of infants disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 51 16
C0235659 Reduced fetal movement phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding Abnormality of prenatal development or birth 169 17