Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0026267 Mitral Valve Prolapse Syndrome disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 7 17
C0241074 Hyperextensible skin phenotype Finding Abnormality of the integument 8 11
C1837770 Sparse hair phenotype Finding Abnormality of the integument 8 9
C4282407 Sparse and thin eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 8 8
C0241703 High pitched voice phenotype Finding Abnormality of the voice 1 1
C0349588 Short stature phenotype Finding Growth abnormality 190 292