Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0349588 Short stature phenotype Finding Growth abnormality 190 292
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
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
C0026267 Mitral Valve Prolapse Syndrome disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 7 17
C0241703 High pitched voice phenotype Finding Abnormality of the voice 1 1