Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779 0
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779 0
C4704874 Mammary Carcinoma, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0
C1257931 Mammary Neoplasms, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0
C3665347 Visual Impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 422 0
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 410 0
C1306503 Congenital exomphalos disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity; physical disorder 235 0
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151 0
C0005398 Cholestasis, Extrahepatic disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 87 0
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
C4025819 Abnormality of the hypothalamus-pituitary axis disease Anatomical Abnormality Abnormality of the endocrine system 70 0
C1963099 Myelodysplasia, CTCAE phenotype Finding 68 0
C0025037 Meckel Diverticulum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality physical disorder Abnormality of the digestive system 63 0
C4024748 Aplasia/Hypoplasia of the iris disease Anatomical Abnormality Abnormality of the eye 52 0
C1860614 ULNAR HYPOPLASIA phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 50 0
C1514428 Primary peritoneal carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 49 0
C2749463 Aplasia/Hypoplasia of the radius phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 45 0
C0266387 Bicornuate uterus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 44 0
C0496956 Neoplasm of uncertain or unknown behavior of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 41 0
C4020968 Abnormal localization of kidney disease Anatomical Abnormality Abnormality of the genitourinary system 40 0
C4228778 Abnormality of radial ray phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 34 0
C4025211 Abnormal carotid artery morphology disease Anatomical Abnormality Abnormality of the cardiovascular system 32 0
C1112155 Hereditary non-polyposis colorectal cancer syndrome disease Congenital Abnormality genetic disease 31 0
C0151640 Decreased fertility in males phenotype Male Urogenital Diseases Finding Abnormality of the genitourinary system 30 0