Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4304539 20p12.3 microdeletion syndrome disease Disease or Syndrome 1 0
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 10 0
C3266101 22q11 partial monosomy syndrome disease Disease or Syndrome 9 0
C1853490 22q13.3 Deletion Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 2 9
C4304537 2p21 microdeletion syndrome disease Disease or Syndrome 4 0
C4749458 2p21 microdeletion syndrome without cystinuria disease Disease or Syndrome 2 0
C4304532 2q23.1 microdeletion syndrome disease Disease or Syndrome 1 0
C4706258 2q33.1 microdeletion syndrome disease Disease or Syndrome 1 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 1 20
C1856889 3-4 finger syndactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 0 1
C1834062 3-4 toe syndactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 0 1
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 3
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 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 8
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 3
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 2 50
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 49
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 1 22
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 2 11
C4039473 3-methylglutaconic aciduria type 5 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0
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 20
C4040739 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome disease Disease or Syndrome 1 0
C3553597 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME disease Disease or Syndrome genetic disease; disease of metabolism 1 9
C4540171 3-METHYLGLUTACONIC ACIDURIA, TYPE IX disease Disease or Syndrome genetic disease; disease of metabolism 1 4