Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0014084 Enchondromatosis disease Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome Neoplasm; Abnormality of the skeletal system 3
C0029463 Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 3
C0008479 Chondrosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 1
C0008487 Chordoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 1
C0340548 Pulmonary capillary hemangiomatosis disease Neoplasms; Cardiovascular Diseases Disease or Syndrome Neoplasm; Abnormality of the respiratory system; Abnormality of the cardiovascular system 1
C0149925 Small cell carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 3
C0206655 Alveolar rhabdomyosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the musculature 3
C0206656 Embryonal Rhabdomyosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the musculature 1
C0220633 Uveal melanoma disease Neoplasms; Eye Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the eye 5
C0346373 Malignant melanoma of iris disease Neoplasms; Eye Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the eye 5
C0346388 Malignant melanoma of choroid disease Neoplasms; Eye Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the eye 5
C0346073 Tufted angioma of skin disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process Neoplasm; Abnormality of the cardiovascular system 1
C0399440 Hereditary gingival fibromatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Neoplasm; Abnormality of head or neck 3
C0206634 Liposarcoma, Myxoid disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of connective tissue 2
C0006413 Burkitt Lymphoma disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 22
C1264195 Refractory anemia with ringed sideroblasts disease Hemic and Lymphatic Diseases Neoplastic Process Neoplasm; Abnormality of blood and blood-forming tissues 2
C3463824 MYELODYSPLASTIC SYNDROME group Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 2
C0026764 Multiple Myeloma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 1
C0553580 Ewings sarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 5
C0039101 synovial sarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 3
C0010276 Craniopharyngioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 2
C0016057 Fibrosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 2
C0206657 Alveolar Soft Part Sarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 2
C0206729 Neurofibrosarcoma disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 2
C0751690 Malignant Peripheral Nerve Sheath Tumor disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 2