Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 257 53
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 179 52
C2981150 Uranostaphyloschisis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality syndrome; physical disorder Abnormality of head or neck 174 51
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 4 0
C1833563 Cleft Lip, Congenital Healed disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome syndrome; physical disorder 1 0
C2677434 OROFACIAL CLEFT 11 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome syndrome; physical disorder 1 0
C0032460 Polycystic Ovary Syndrome disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome syndrome Abnormality of the genitourinary system 811 307
C0022104 Irritable Bowel Syndrome disease Digestive System Diseases Disease or Syndrome syndrome 421 51
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 414 50
C0038644 Sudden infant death syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome syndrome 131 57
C0015674 Chronic Fatigue Syndrome disease Infections; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome syndrome 117 14
C0175697 Van der Woude syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome syndrome 113 9
C0039263 Takayasu Arteritis disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome syndrome 109 24
C0265354 CHARGE Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome syndrome 49 1
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 47 6
C0796004 Kabuki make-up syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality syndrome 36 0
C1319466 Barber Say syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome syndrome 18 1
C0085261 Proteus Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Neoplastic Process syndrome 17 1
C4551482 Adams-Oliver syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 17 5
C0085574 Palindromic rheumatism disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome syndrome 14 2
C0263859 Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome disease Musculoskeletal Diseases Disease or Syndrome syndrome 14 5
C0268314 Cholestasis-edema syndrome, Norwegian type disease Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome syndrome 14 0
C0015773 Felty Syndrome disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome syndrome 13 0
C0018522 Hallermann's Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome syndrome 13 0
C0043515 Zollinger-Ellison syndrome disease Digestive System Diseases; Neoplasms Disease or Syndrome syndrome Abnormality of the digestive system; Neoplasm 13 0