Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4721806 Carcinoma, Basal Cell disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 47
C4721610 Carcinoma, Ovarian Epithelial disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 13
C4721411 Osteolysis phenotype Musculoskeletal Diseases Pathologic Function Abnormality of the skeletal system 56
C4703633 Increased level of L-fucose in urine phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 14
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C4553765 Memory Impairment, CTCAE 5.0 phenotype Finding 108
C4553743 Spasticity, CTCAE phenotype Finding 476
C4552810 Irritability, CTCAE phenotype Finding 139
C4552097 Nevus Sebaceus of Jadassohn disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome syndrome Abnormality of the integument 3
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C4551675 Keratoderma, Palmoplantar disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 142
C4551583 Cerebral cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 240
C4476553 Atrial septal dilatation phenotype Anatomical Abnormality Abnormality of the cardiovascular system 3
C4082172 Porencephalic cyst disease Disease or Syndrome Abnormality of the nervous system 26
C4049796 Abnormality of cardiovascular system morphology disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 165
C4025846 Abnormality of vision disease Finding Abnormality of the eye 118
C4025835 Abnormal nasolacrimal system morphology disease Anatomical Abnormality Abnormality of head or neck 23
C4025749 Abnormality of the spleen disease Anatomical Abnormality Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 25
C4025680 Abnormal cartilage morphology phenotype Anatomical Abnormality Abnormality of the skeletal system 2
C4025662 Abnormality of the ulna phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 14
C4024890 Excessive wrinkled skin phenotype Anatomical Abnormality Abnormality of the integument 25
C4024878 Generalized hyperpigmentation phenotype Skin and Connective Tissue Diseases Finding Abnormality of the integument 42
C4024737 Aplasia/Hypoplasia of the skin phenotype Finding Abnormality of the integument 29
C4023909 Aplasia/Hypoplasia of the abdominal wall musculature phenotype Finding Abnormality of the digestive system; Abnormality of the musculature 32
C4023551 Abnormality of dental color phenotype Finding Abnormality of head or neck 11