Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2047886 (Idiopathic) normal pressure hydrocephalus disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 14 0
C0865440 (non-specific) purulent meningitis disease Disease or Syndrome disease of anatomical entity 6 0
C4025774 1-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 1
C1861357 1-5 finger complete cutaneous syndactyly phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 0
C4023728 1-5 finger syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 3 1
C4021235 1-5 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 0
C4476857 1-minute APGAR score of 0 phenotype Finding Abnormality of prenatal development or birth 1 0
C4476858 1-minute APGAR score of 1 phenotype Finding Abnormality of prenatal development or birth 1 0
C1839731 11 pairs of ribs phenotype Finding Abnormality of the skeletal system 20 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 10 16
C4329210 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency disease Disease or Syndrome genetic disease; disease of anatomical entity 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
C4749920 15q overgrowth syndrome disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 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 5 0
C4304594 16q24.3 microdeletion syndrome disease Disease or Syndrome 1 0
C0202075 17 Hydroxyprogesterone measurement phenotype Laboratory Procedure 7 19
C0852698 17,20-desmolase deficiency disease Disease or Syndrome 1 0
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
C4329212 17-Alpha-Hydroxylase/17,20 Lyase Deficiency disease Disease or Syndrome 4 8
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 5 17
C3661485 17p11.2 Monosomy phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction 1 0
C4518822 17q12 microdeletion syndrome disease Disease or Syndrome 1 0