Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0015300 Exophthalmos disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 196
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 195
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 163
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 152
C0020757 Ichthyoses disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 137
C0271623 Hypogonadotropic hypogonadism disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the endocrine system 125
C0027947 Neutropenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 118
C0010964 Dandy-Walker Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 102
C0870082 Hyperkeratosis disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 87
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 87
C0151311 Cranial nerve palsies disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 78
C0030312 Pancytopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 77
C0002878 Anemia, Hemolytic disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 61
C0398650 Immune thrombocytopenic purpura disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 36
C0162835 Hypopigmentation disorder disease Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument 31
C0151860 Acquired porencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 26
C4082172 Porencephalic cyst disease Disease or Syndrome Abnormality of the nervous system 26
C1704375 Hypophosphatemic Rickets disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the skeletal system 14
C0024282 Lymphocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of blood and blood-forming tissues 11
C0431391 Hemimegalencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 10
C0085702 Monocytosis disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of blood and blood-forming tissues 8
C4552097 Nevus Sebaceus of Jadassohn disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome syndrome Abnormality of the integument 3
C0349588 Short stature phenotype Finding Growth abnormality 1005
C2919142 Short Stature, CTCAE phenotype Finding 1005
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 887