Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 878 124
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 285 38
C4021085 Abnormality of brain morphology phenotype Anatomical Abnormality Abnormality of the nervous system 104 131
C1846460 Abnormality of the outer ear disease Anatomical Abnormality Abnormality of the ear 95 8
C0040588 Tracheoesophageal Fistula disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality Abnormality of the digestive system; Abnormality of the respiratory system 80 0
C0521620 Dilatation of ureter disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality Abnormality of the genitourinary system 72 2
C4025819 Abnormality of the hypothalamus-pituitary axis disease Anatomical Abnormality Abnormality of the endocrine system 70 0
C4024748 Aplasia/Hypoplasia of the iris disease Anatomical Abnormality Abnormality of the eye 52 0
C3164445 Abnormality of aortic valve disease Anatomical Abnormality Abnormality of the cardiovascular system 50 2
C4020968 Abnormal localization of kidney disease Anatomical Abnormality Abnormality of the genitourinary system 40 0
C4021750 Abnormality of femur morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 33 1
C4025211 Abnormal carotid artery morphology disease Anatomical Abnormality Abnormality of the cardiovascular system 32 0
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 31 24
C3887489 Clubbing of toes disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 0
C0238093 Stenosis of duodenum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system 29 1
C4025756 Abnormal aortic morphology disease Anatomical Abnormality Abnormality of the cardiovascular system 29 1
C0281842 Abnormality of the fallopian tube phenotype Anatomical Abnormality Abnormality of the genitourinary system 22 0
C4022016 Abnormality of the preputium disease Anatomical Abnormality Abnormality of the genitourinary system 22 0
C4023917 Aplasia/Hypoplasia of the uvula phenotype Anatomical Abnormality Abnormality of head or neck 22 0
C4025071 Aplasia/Hypoplasia of fingers phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 22 0
C1387925 Abnormality of limbs phenotype Anatomical Abnormality Abnormality of limbs 8 1
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151 0
C4551705 Abnormality of chromosome stability phenotype Cell or Molecular Dysfunction Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 34 1
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1261 77
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 1064 27