Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2047886 (Idiopathic) normal pressure hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 14 0
C0865440 (non-specific) purulent meningitis disease Disease or Syndrome disease of anatomical entity 6 0
C3669121 11-Beta-hydroxylase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 10 16
C4305140 12q14 microdeletion syndrome phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0
C4749920 15q overgrowth syndrome disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 0
C3697269 15q24 Microdeletion disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Congenital Abnormality genetic disease 4 0
C0852698 17,20-desmolase deficiency disease Disease or Syndrome 1 0
C3277849 17,20-Lyase Deficiency, Isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 0
C4329212 17-Alpha-Hydroxylase/17,20 Lyase Deficiency disease Disease or Syndrome 4 8
C0268296 17-Hydroxysteroid Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 5 2
C4518822 17q12 microdeletion syndrome disease Disease or Syndrome 1 0
C4274528 1q41q42 microdeletion syndrome disease Disease or Syndrome 4 0
C3665382 2,8-Dihydroxyadenine Urolithiasis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of metabolism 6 0
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 0
C3266731 2-methyl-3-hydroxybutyric aciduria phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of mental health 8 1
C2198591 2-methylbutyrylglycinuria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0
C0852654 21-hydroxylase deficiency disease Disease or Syndrome 55 28
C2936346 22q11 Deletion Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 27 2
C3266101 22q11 partial monosomy syndrome disease Disease or Syndrome 4 0
C1853490 22q13.3 Deletion Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 14 1
C4304531 2q32q33 microdeletion syndrome disease Disease or Syndrome 2 0
C0342471 3 beta-Hydroxysteroid dehydrogenase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 9 8
C0342727 3-@METHYLGLUTACONIC ACIDURIA, TYPE I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2 1
C1857776 3-@METHYLGLUTACONIC ACIDURIA, TYPE V disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 3 0
C0342826 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency disease Disease or Syndrome 1 0