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Metadata
ID DOID:2732
Name 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.
https://pubmed.ncbi.nlm.nih.gov/20113479/
Xrefs

GARD:4392

ICD10CM:Q82.8

MESH:D011038

NCI:C3335

OMIM:268400

SNOMEDCT_US_2023_03_01:205572001

UMLS_CUI:C0032339

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Congenital poikiloderma [EXACT]

RTS [EXACT]

Parent Relationships

is_a skin disease

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