Search Ontology:
Human Disease

Rothmund-Thomson syndrome

Term ID
DOID:2732
Synonyms
  • Congenital poikiloderma
  • RTS
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. https://pubmed.ncbi.nlm.nih.gov/20113479/
References
  • GARD:4392
  • ICD10CM:Q82.8
  • MESH:D011038
  • MIM:268400
  • NCI:C3335
  • SNOMEDCT_US_2023_03_01:205572001
  • UMLS_CUI:C0032339
Ontology
Human Disease   ( DOID:2732 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models