Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0578626 blue iris (physical finding) phenotype Finding Abnormality of the eye 26
C1860320 Bone marrow hypercellularity phenotype Finding Abnormality of blood and blood-forming tissues 26
C0151825 Bone pain phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 67
C1963077 Bone Pain, CTCAE 3.0 phenotype Finding 67
C4554063 Bone Pain, CTCAE 5.0 phenotype Finding 67
C0221356 Brachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 164
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 285
C0426429 Broad nasal tip phenotype Finding Abnormality of head or neck 120
C0221263 Cafe-au-Lait Spots phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 58
C1863351 Calvarial hyperostosis phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of head or neck; Abnormality of the skeletal system 10
C0018800 Cardiomegaly phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 80
C0029423 Cartilaginous exostosis disease Neoplasms; Musculoskeletal Diseases Neoplastic Process Neoplasm; Abnormality of the skeletal system 3
C0008031 Chest Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 81
C0399526 Class III malocclusion disease Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 144
C1859480 Cone-shaped epiphyses of the phalanges of the hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 20
C1865037 Cone-shaped epiphysis phenotype Finding Abnormality of the skeletal system 49
C0001627 Congenital adrenal hyperplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the endocrine system 18
C0006281 Congenital bronchogenic cyst disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Respiratory Tract Diseases Congenital Abnormality Abnormality of the respiratory system 4
C4024667 Congenital craniofacial dysostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 3
C0265563 Congenital dislocation of radial head disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 25
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 394
C0685381 Congenital hypoplasia of radius disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 35
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 23
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 187
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 582