Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4025774 1-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 0 1
C4023728 1-5 finger syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 0 1
C1839731 11 pairs of ribs phenotype Finding Abnormality of the skeletal system 0 3
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 1 0
C4755260 12p12.1 microdeletion syndrome disease Disease or Syndrome 1 0
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
C4749855 14q11.2 microduplication syndrome disease Disease or Syndrome 1 0
C4305240 14q12 microdeletion syndrome disease Disease or Syndrome 1 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 1 0
C4304594 16q24.3 microdeletion syndrome disease Disease or Syndrome 1 0
C0202075 17 Hydroxyprogesterone measurement phenotype Laboratory Procedure 0 19
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
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 17
C3661485 17p11.2 Monosomy phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction 1 0
C4304578 1p21.3 microdeletion syndrome phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0
C4707828 1p31p32 microdeletion syndrome disease Disease or Syndrome genetic disease 1 0
C4304540 1q44 microdeletion syndrome disease Disease or Syndrome 1 0
C1857252 2,4-Dienoyl-CoA Reductase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 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 1 0
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 0 16
C1859817 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA disease Finding genetic disease; disease of metabolism 1 6
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 10
C1864912 2-Methylbutyryl-CoA Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 4
C1150929 2-oxo-hept-3-ene-1,7-dioate hydratase activity phenotype Molecular Function 14 0
C2610861 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity phenotype Molecular Function 1 0