Version: 8.0.0
Date: Tue Jan 28 2025
Rothmund-Thomson syndrome
DOID:2732
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Rothmund-Thomson syndrome

Definition
A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
Synonyms
  • Congenital poikiloderma
  • RTS
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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