Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0751651 Mitochondrial Diseases group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 43
C1704374 Carcinoma of Endocrine Gland disease Neoplasms; Endocrine System Diseases Neoplastic Process 15
C0206695 Carcinoma, Neuroendocrine disease Neoplasms Neoplastic Process disease of cellular proliferation 12
C0031511 Pheochromocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 9
C0030421 Paraganglioma disease Neoplasms Neoplastic Process genetic disease; disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 8
C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 5
C1847319 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA disease Digestive System Diseases; Neoplasms Disease or Syndrome genetic disease; syndrome 5
C0349535 Carcinoid tumor of intestine disease Digestive System Diseases; Neoplasms Neoplastic Process 4
C1855008 Mitochondrial Complex II Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 3