Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C4274528 1q41q42 microdeletion syndrome disease Disease or Syndrome 4 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 6 0
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 85 16
C4021236 2-4 finger syndactyly phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 0
C4021622 2-4 toe cutaneous syndactyly disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 0
C4021234 2-4 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 0
C4023736 2-5 finger syndactyly phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 0
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 8 10
C1864912 2-Methylbutyryl-CoA Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 4
C2198591 2-methylbutyrylglycinuria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0
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
C4304539 20p12.3 microdeletion syndrome disease 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 31 2
C3266101 22q11 partial monosomy syndrome disease Disease or Syndrome 12 0
C1853490 22q13.3 Deletion Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 15 10
C1861376 2nd-5th toe middle phalangeal hypoplasia phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2 0
C4304537 2p21 microdeletion syndrome disease Disease or Syndrome 4 0
C4749458 2p21 microdeletion syndrome without cystinuria disease Disease or Syndrome 2 0