FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Rothmund-Thomson syndrome ID (Ontology) DOID:2732 (Human Disease)
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.
Also Known As "Congenital poikiloderma" ; "RTS"
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 Genes
 Rothmund-Thomson syndrome       1
 for disease ribbon | Rothmund-Thomson syndrome       1
 model of | Rothmund-Thomson syndrome       1
Spanning Tree (Parents/Children)
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  integumentary system disease
   |__skin disease
       |__Rothmund-Thomson syndrome  1 rec.
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Synonyms
  • "Congenital poikiloderma" EXACT
    "RTS" EXACT OMO:0003012
Secondary IDs
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GARD:4392
ICD10CM:Q82.8
MESH:D011038
MIM:268400
NCI:C3335
SNOMEDCT_US_2023_03_01:205572001
UMLS_CUI:C0032339