Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C1855710 Bone marrow hypocellularity phenotype Finding Abnormality of blood and blood-forming tissues 18
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 18
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 18
C3714506 Meckel syndrome type 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 18
C0085110 Severe Combined Immunodeficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 18
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 17
C0751882 Myasthenic Syndromes, Congenital disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 17
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 16
C2936862 Bardet-Biedl syndrome 1 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome genetic disease 16
C1292778 Chronic myeloproliferative disorder disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 16
C0339527 Leber Congenital Amaurosis disease Eye Diseases Disease or Syndrome disease of anatomical entity 16
C3888631 Monogenic diabetes disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 16
C0026654 Moyamoya Disease disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 16
C1704374 Carcinoma of Endocrine Gland disease Neoplasms; Endocrine System Diseases Neoplastic Process 15
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 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
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
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 15
C4551675 Keratoderma, Palmoplantar disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 15
C0339535 Night blindness, congenital stationary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 15
C0085215 Ovarian Failure, Premature disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 15
C1832200 Peroxisome biogenesis disorders group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 15
C1150929 2-oxo-hept-3-ene-1,7-dioate hydratase activity phenotype Molecular Function 14
C0008924 Cleft upper lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 14
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 14