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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Rothmund-Thomson Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Rothmund-Thomson Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Rothmund-Thomson Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Rothmund-Thomson Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Rothmund-Thomson Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Rothmund-Thomson Syndrome

Preferred term

Rothmund-Thomson Syndrome  

Type

  • mesh:Descriptor

Definition

  • An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

Broader concept

Related concepts

Entry terms

  • Congenital Poikiloderma
  • Poikiloderma Atrophicans and Cataract
  • Poikiloderma Congenitale
  • Poikiloderma Congenitale of Rothmund-Thomson
  • Poikiloderma of Rothmund-Thomson

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-ZF2HCQ6X-4

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