Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 407
C0432098 Cleft Soft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder Abnormality of head or neck 6
C0432090 Cleft of hard palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder Abnormality of head or neck 1
C0032460 Polycystic Ovary Syndrome disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome syndrome Abnormality of the genitourinary system 45
C0043515 Zollinger-Ellison syndrome disease Digestive System Diseases; Neoplasms Disease or Syndrome syndrome Abnormality of the digestive system; Neoplasm 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
C0040416 Tonic Pupil phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom syndrome Abnormality of the eye 1
C0232567 Hypergastrinemia phenotype Endocrine System Diseases Finding syndrome 1
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
C0848558 Hypospadias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 246
C0080174 Spina Bifida Occulta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality physical disorder Abnormality of the nervous system 69
C0025037 Meckel Diverticulum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality physical disorder Abnormality of the digestive system 59
C0152427 Polydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality physical disorder Abnormality of limbs; Abnormality of the skeletal system 43
C0220697 POLYDACTYLY, POSTAXIAL disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome physical disorder Abnormality of limbs; Abnormality of the skeletal system 37
C1261470 Congenital meningocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality physical disorder 23
C1868598 PARIETAL FORAMINA disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality physical disorder Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 11
C0037221 Situs Inversus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality physical disorder Abnormality of the digestive system; Abnormality of the cardiovascular system; Growth abnormality 9
C0265706 Gastroschisis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome physical disorder Abnormality of the digestive system 3
C0238577 Abdominal wall defect group Congenital Abnormality physical disorder Abnormality of the digestive system 1
C3887487 Postaxial polydactyly type A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome physical disorder Abnormality of limbs; Abnormality of the skeletal system 1
C0008780 Ciliary Motility Disorders group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome Abnormality of the respiratory system 30
C1859126 Stippled epiphyses phenotype Finding genetic disease; syndrome Abnormality of the skeletal system 28
C0392476 Epiphyseal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; syndrome Abnormality of the skeletal system 25
C0013575 Ectodermal Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; syndrome Abnormality of the integument 23
C0162359 Christ-Siemens-Touraine syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; syndrome Abnormality of the integument 3