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Disease Ontology Browser
Rothmund-Thomson syndrome (DOID:2732)
Alliance: disease page
Synonyms: Congenital poikiloderma; RTS
Alt IDs: OMIM:268400, ICD10CM:Q82.8, MESH:D011038, NCI:C3335, UMLS_CUI:C0032339
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory