Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0024299 Lymphoma group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 82
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1038
C0349588 Short stature phenotype Finding Growth abnormality 1005
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 431
C0028754 Obesity disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Growth abnormality 315
C1859778 Postnatal growth retardation phenotype Finding Growth abnormality 116
C4025569 Eunuchoid habitus phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 21
C4025901 Abnormality of body height disease Finding Growth abnormality 18
C4021776 Abnormality of the voice disease Finding Abnormality of the voice 64
C0685409 Congenital Camptodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 109
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 742
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 291
C0029456 Osteoporosis disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 211
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 195
C3805574 Increased fracture rate phenotype Finding Abnormality of the skeletal system 123
C0029422 Osteochondrodysplasias group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity Abnormality of the skeletal system 103
C2674432 Reduced bone mineral density phenotype Finding Abnormality of the skeletal system 75
C1842083 Abnormality of the ribs disease Anatomical Abnormality Abnormality of the skeletal system 63
C0265677 Congenital hemivertebra disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 43
C1836308 Generalized joint laxity phenotype Finding Abnormality of the skeletal system 37
C1856872 Down-sloping shoulders phenotype Finding Abnormality of the skeletal system 28
C4021657 Abnormality of bone mineral density disease Anatomical Abnormality Abnormality of the skeletal system 21
C0035229 Respiratory Insufficiency phenotype Respiratory Tract Diseases Pathologic Function Abnormality of the respiratory system 295
C0264303 Laryngomalacia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the respiratory system 49
C3714796 Isolated somatotropin deficiency disease Disease or Syndrome Abnormality of the nervous system; Abnormality of the endocrine system 75