Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4755260 12p12.1 microdeletion syndrome disease Disease or Syndrome 1
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
C4749855 14q11.2 microduplication syndrome disease Disease or Syndrome 1
C4305240 14q12 microdeletion syndrome disease Disease or Syndrome 1
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
C4304594 16q24.3 microdeletion syndrome disease Disease or Syndrome 1
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
C4304578 1p21.3 microdeletion syndrome phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1
C4707828 1p31p32 microdeletion syndrome disease Disease or Syndrome genetic disease 1
C4304540 1q44 microdeletion syndrome disease Disease or Syndrome 1
C1857252 2,4-Dienoyl-CoA Reductase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
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
C1859817 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA disease Finding genetic disease; disease of metabolism 1
C1864912 2-Methylbutyryl-CoA Dehydrogenase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1
C4304539 20p12.3 microdeletion syndrome disease Disease or Syndrome 1
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 9
C3266101 22q11 partial monosomy syndrome disease Disease or Syndrome 9
C1853490 22q13.3 Deletion Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease 1
C4304537 2p21 microdeletion syndrome disease Disease or Syndrome 4
C4749458 2p21 microdeletion syndrome without cystinuria disease Disease or Syndrome 2
C4304532 2q23.1 microdeletion syndrome disease Disease or Syndrome 1
C4706258 2q33.1 microdeletion syndrome disease Disease or Syndrome 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
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
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