Source: CTD_human

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0016325 Fluoride Poisoning disease Chemically-Induced Disorders Injury or Poisoning 1
C1835042 Melanoma astrocytoma syndrome disease Neoplasms; Nervous System Diseases Neoplastic Process genetic disease 1
C1835044 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 disease Finding 1
C1838547 MELANOMA-PANCREATIC CANCER SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases Disease or Syndrome 1
C1297882 Partial Trisomy disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 1
C0041107 Trisomy group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 1
C0040715 Chromosomal translocation phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2
C0008628 Chromosome Deletion group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2
C2930745 Partial Monosomy phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2
C0022783 Vulvar Lichen Sclerosus disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity 2
C0751569 Genitourinary Cancer disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3
C0042065 Genitourinary Neoplasms group Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process Abnormality of the genitourinary system; Neoplasm 3
C0677866 Brain Stem Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4
C0751886 Brain Stem Neoplasms, Primary disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4
C0751887 Medullary Neoplasms disease Neoplasms; Nervous System Diseases Neoplastic Process 4
C0751888 Mesencephalic Neoplasms disease Neoplasms; Nervous System Diseases Neoplastic Process 4
C0751889 Pontine Tumors group Neoplasms; Nervous System Diseases Neoplastic Process 4
C0206727 Nerve Sheath Tumors group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5
C0751691 Perineurioma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5
C0751689 Peripheral Nerve Sheath Neoplasm disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5
C0205969 Thymic Carcinoma disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5
C0040100 Thymoma disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Abnormality of the immune system; Neoplasm; Abnormality of the cardiovascular system 5
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 6
C0017601 Glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 8
C0005940 Bone Diseases group Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 10