OBO ID: DOID:2732 |
Term Name: | Rothmund-Thomson syndrome | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:2732 ) |
OTHER Rothmund-Thomson syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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