DISEASES

Disease-gene associations mined from literature

Human genes for Turner syndrome

Turner syndrome [DOID:3491]

Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis":550) encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Normal females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or 'Turner mosaicism'.

Synonyms:  Turner syndrome,  DOID:3491,  Turner disease,  Turner disorder,  Bonnevie-Ullrich syndrome ...

Linkouts:  OMIM