Source: CTD_human

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1449861 Micronuclei, Chromosome-Defective phenotype Pathological Conditions, Signs and Symptoms Cell Component 26
C1449862 Micronuclei, Genotoxicant-Induced phenotype Pathological Conditions, Signs and Symptoms Cell Component 26
C0008628 Chromosome Deletion group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2
C0040715 Chromosomal translocation phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2
C2930745 Partial Monosomy phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2
C0041107 Trisomy group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 1
C1297882 Partial Trisomy disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 1
C4721453 Peripheral Nervous System Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 53
C0005940 Bone Diseases group Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 10
C0017601 Glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 8
C0022783 Vulvar Lichen Sclerosus disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity 2
C1838547 MELANOMA-PANCREATIC CANCER SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases Disease or Syndrome 1
C1835044 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 disease Finding 1
C0016325 Fluoride Poisoning disease Chemically-Induced Disorders Injury or Poisoning 1
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 525
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 525
C1257931 Mammary Neoplasms, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 525
C4704874 Mammary Carcinoma, Human disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525
C2239176 Liver carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 501
C0024623 Malignant neoplasm of stomach disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 291
C0038356 Stomach Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 291
C1708349 Hereditary Diffuse Gastric Cancer disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 291
C0024121 Lung Neoplasms group Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 261
C0242379 Malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 261