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Summary Literature (2)
DOID:2732 - Rothmund-Thomson syndrome


Disease Ontology 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, Rothmund-Thomson syndrome (disorder),

Xenbase Genes : recql4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010002 - Rothmund-Thomson syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): skin disease (is_a)