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
C0740457 Malignant neoplasm of kidney disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6
C0238198 Gastrointestinal Stromal Tumors group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 5
C1847319 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA disease Digestive System Diseases; Neoplasms Disease or Syndrome genetic disease; syndrome 5
C1333993 hereditary paraganglioma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 2
C1861848 PARAGANGLIOMAS 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity; disease of cellular proliferation 1
C0342777 Succinate-coenzyme Q reductase deficiency disease Disease or Syndrome 1