Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 558
C1531647 Cerebral ventriculomegaly phenotype Nervous System Diseases Finding disease of anatomical entity 407
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C0266551 Congenital coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity 144
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C1853237 Isolated cases phenotype Finding 111
C4553962 Hyperkeratosis, CTCAE phenotype Finding 87
C0017636 Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 33
C0278701 Gastric Adenocarcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 33
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 27
C0151860 Acquired porencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 26
C0153574 Malignant Uterine Corpus Neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 26
C0011071 Sudden death phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24
C0152235 Congenital genu recurvatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 23
C0158486 Acquired genu recurvatum phenotype Musculoskeletal Diseases Acquired Abnormality 23
C0005684 Malignant neoplasm of urinary bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 19
C0007112 Adenocarcinoma of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 16
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 12
C0280630 Uterine Carcinosarcoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12
C0010606 Adenoid Cystic Carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11
C1336078 Papillary renal cell carcinoma, sporadic disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11
C4551602 Noonan Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 11