Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C3888631 Monogenic diabetes disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 16
C0085215 Ovarian Failure, Premature disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 15
C0265965 Dyskeratosis Congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 15
C0268237 Cytochrome-c Oxidase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality genetic disease; disease of metabolism 15
C1704374 Carcinoma of Endocrine Gland disease Neoplasms; Endocrine System Diseases Neoplastic Process 15
C1832200 Peroxisome biogenesis disorders group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15
C0027707 Nephritis, Interstitial disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 14
C0340543 Familial primary pulmonary hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 14
C1150929 2-oxo-hept-3-ene-1,7-dioate hydratase activity phenotype Molecular Function 14
C0005818 Blood Platelet Disorders group Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 13
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 13
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 13
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 13
C0266468 Congenital pontocerebellar hypoplasia disease Nervous System Diseases Congenital Abnormality disease of anatomical entity 13
C0369183 Erythrocyte Mean Corpuscular Hemoglobin Test phenotype Laboratory Procedure 13
C1136249 Mental Retardation, X-Linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 13
C0043459 Zellweger Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 12
C0206695 Carcinoma, Neuroendocrine disease Neoplasms Neoplastic Process disease of cellular proliferation 12
C0270960 Congenital myopathy (disorder) group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 12
C0340970 Congenital neutropenia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 12
C1968949 Cakut disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 12
C2700553 Omenn Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 12
C0009782 Connective Tissue Diseases group Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 11
C0029434 Osteogenesis Imperfecta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality genetic disease; disease of anatomical entity 11