Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0038356 Stomach Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 13 47
C0010278 Craniosynostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system 13 33
C2931196 Craniofacial dysostosis type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 3 34
C0265269 Lacrimoauriculodentodigital syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease 3 32
C0175699 Saethre-Chotzen Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 29
C0220658 Pfeiffer Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 30
C0795998 JACKSON-WEISS SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease 2 15
C0001193 Apert syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome 1 14
C1852406 Cutis Gyrata Syndrome of Beare And Stevenson disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 1 13
C3281247 BENT BONE DYSPLASIA SYNDROME disease Disease or Syndrome disease of anatomical entity 1 10
C2936791 Antley-Bixler Syndrome, Autosomal Dominant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 1 10
C1865070 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 1 9
C1867563 CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT disease Finding 1 1
C1867564 SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY disease Finding 1 1