Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4310633 DYSTONIA 28, CHILDHOOD-ONSET disease Disease or Syndrome 1 13
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 46 66
C0332615 Myopathic facies phenotype Finding Abnormality of head or neck 11 15
C1836047 Long face phenotype Finding Abnormality of head or neck 11 12
C0040433 Tooth Crowding phenotype Stomatognathic Diseases Finding Abnormality of head or neck 9 19
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 46 52
C4280687 Upper limb muscle hypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 1 1
C1857304 Flexion contracture of finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 4 4
C1861239 Plantar flexion contractures phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 2 2
C0311468 Increased bilirubin level (finding) phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of metabolism/homeostasis 14 8
C1820737 Temperature instability phenotype Finding Abnormality of metabolism/homeostasis 6 8
C1848459 High nonceruloplasmin-bound serum copper phenotype Finding Abnormality of metabolism/homeostasis 2 2
C4023452 Elevated C-reactive protein level phenotype Finding Abnormality of metabolism/homeostasis 2 2
C1850309 Mildly elevated creatine phosphokinase phenotype Finding Abnormality of metabolism/homeostasis 1 1
C0238621 Aminoaciduria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1 1
C0241775 Organic aciduria phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1 1
C0151526 Premature Birth phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 35 40
C0235659 Reduced fetal movement phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding Abnormality of prenatal development or birth 16 17
C4072904 Secondary Caesarian section phenotype Finding Abnormality of prenatal development or birth 13 13
C0032914 Pre-Eclampsia phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 7 8
C0039239 Sinus Tachycardia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 5
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 45 62
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 31 38
C0034013 Precocious Puberty disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 4 4
C1859979 Precocious puberty in males phenotype Endocrine System Diseases Finding Abnormality of the endocrine system 4 3