DISEASES

Disease-gene associations mined from literature

Human genes for Rothmund-Thomson syndrome

Rothmund-Thomson syndrome [DOID:2732]

Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma congenitale, is a rare autosomal recessive skin condition originally described by August von Rothmund (1830–1906) in 1868. Matthew Sydney Thomson (1894–1969) published further descriptions in 1936.

Synonyms:  Rothmund-Thomson syndrome,  DOID:2732,  RothmundThomson syndrome,  Rothmund-Thomson disease,  Rothmund-Thomson disorder ...

Linkouts:  OMIM #1 #2 #3