Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 14
C0340543 Familial primary pulmonary hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 14
C0019569 Hirschsprung Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the nervous system 14
C0079541 Holoprosencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; physical disorder Abnormality of the nervous system 14
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 14
C0027707 Nephritis, Interstitial disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 14
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 13
C0005818 Blood Platelet Disorders group Hemic and Lymphatic Diseases Disease or Syndrome 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
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 13
C3203102 Idiopathic pulmonary arterial hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system; Abnormality of the cardiovascular system 13
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 13
C1136249 Mental Retardation, X-Linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 13
C0687120 Nephronophthisis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease Abnormality of the genitourinary system 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
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 13
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
C0206695 Carcinoma, Neuroendocrine disease Neoplasms Neoplastic Process disease of cellular proliferation 12
C0008370 Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 12
C0010308 Congenital Hypothyroidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the endocrine system 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
C1140680 Malignant neoplasm of ovary disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 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