Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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 1 14
C1859817 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA disease Finding genetic disease; disease of metabolism 1 1
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 1 8
C1864912 2-Methylbutyryl-CoA Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1
C1853490 22q13.3 Deletion Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 1 1
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 1 16
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 1 1
C2751532 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 5
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 1 2
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 1 27
C1859499 3-methylcrotonyl CoA carboxylase 2 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 1 45
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 1 4
C4225393 3-methylglutaconic aciduria type 7 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1 6
C3553597 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME disease Disease or Syndrome genetic disease; disease of metabolism 1 2
C4540171 3-METHYLGLUTACONIC ACIDURIA, TYPE IX disease Disease or Syndrome genetic disease; disease of metabolism 1 2
C4310650 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII disease Disease or Syndrome genetic disease; disease of metabolism 1 1
C2751317 46, XY Sex Reversal 5 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 1 2
C4479552 46,XX SEX REVERSAL 4 disease Congenital Abnormality 1 2
C1856273 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality disease of anatomical entity 1 1
C2748896 46,Xy Gonadal Dysgenesis, Complete, Sry-Related disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 1 13
C3489793 46,XY Sex Reversal 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality disease of anatomical entity 1 8
C3151064 46,XY SEX REVERSAL 6 disease Disease or Syndrome disease of anatomical entity 1 2
C4015129 46,XY SEX REVERSAL 9 disease Disease or Syndrome disease of anatomical entity 1 3
C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1 20
C0175701 Aarskog syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 1 2