Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2751532 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 0
C1291230 3-Hydroxyacyl-CoA Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 3 0
C0342737 3-Hydroxyisobutyric aciduria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0
C0268600 3-methylcrotonyl CoA carboxylase 1 deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 5 0
C3696376 3-Methylglutaconic Aciduria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotype 16 1
C0342728 3-Methylglutaconic aciduria type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 0
C0574083 3-Methylglutaconic aciduria type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism 29 1
C0574084 3-Methylglutaconic aciduria type 3 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 11 3
C1855126 3-Methylglutaconic Aciduria Type IV disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 4 0
C4040739 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome disease Disease or Syndrome 4 0
C3553597 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME disease Disease or Syndrome genetic disease; disease of metabolism 1 0
C0580190 3-Phosphoglycerate dehydrogenase deficiency disease Disease or Syndrome 0 1
C0796137 3C syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 4 0
C2936403 46, XX Disorders of Sex Development group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 5 1
C2936419 46, XX Testicular Disorders of Sex Development disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 11 1
C0432481 46, XX true hermaphrodite disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 2 0
C2751824 46, XY Disorders of Sex Development group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 10
C0432470 46, XY female disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 25 5
C4479552 46,XX SEX REVERSAL 4 disease Congenital Abnormality 2 0
C4510744 46,XY partial gonadal dysgenesis disease Disease or Syndrome 2 0
C3266843 47, XYY syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 0
C4512053 4p16.3 microduplication syndrome disease Disease or Syndrome 1 0
C0265404 4q partial monosomy syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 1 0
C4304530 4q21 microdeletion syndrome phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 0
C0268615 5,10-Methylenetetrahydrofolate reductase deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome 6 6