Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 46 52
C0152427 Polydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality physical disorder Abnormality of limbs; Abnormality of the skeletal system 24 37
C0423109 Upward slant of palpebral fissure phenotype Finding Abnormality of head or neck 14 16
C0424731 Single transverse palmar crease phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding Abnormality of the integument; Abnormality of limbs 14 14
C0426817 Short ribs phenotype Finding Abnormality of the skeletal system 12 27
C0024507 Majewski Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease 11 31
C0265660 Syndactyly of the toes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 11 11
C1854912 Short long bone phenotype Finding Abnormality of the skeletal system 8 19
C1837482 Thoracic hypoplasia disease Congenital Abnormality Abnormality of the skeletal system 7 16
C0240912 Vertical Talus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 6 6
C4024597 Aplasia/Hypoplasia involving the pelvis phenotype Finding Abnormality of the skeletal system 5 13
C0013903 Ellis-Van Creveld Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 3 117
C0457013 Weyers acrofacial dysostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 3 20