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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, Rothmund-Thomson syndrome (disorder), RTS
Xenbase Genes
:
recql4
| MONDO:0010002 - Rothmund-Thomson syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
skin disease (is_a)