Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0024115 Lung diseases group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 32
C0009782 Connective Tissue Diseases group Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 11
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
C0007134 Renal Cell Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2
C0206632 Angiolipoma disease Neoplasms Neoplastic Process disease of cellular proliferation 1
C0023798 Lipoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm; Abnormality of connective tissue 1
C0346010 Multiple fibrofolliculomas disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome genetic disease 1
C3149266 Neural tissue tumors phenotype Neoplasms Finding 1
C0346255 Oncocytoma, renal disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1
C3149265 Parotid oncocytoma disease Neoplasms Neoplastic Process Neoplasm; Abnormality of head or neck 1
C1868193 PNEUMOTHORAX, PRIMARY SPONTANEOUS disease Disease or Syndrome disease of anatomical entity 1
C1378703 Renal carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1
C0149781 Spontaneous pneumothorax disease Respiratory Tract Diseases Disease or Syndrome Abnormality of the respiratory system 1