| 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 |
SNOMEDCT_US_2023_03_01:205572001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Congenital poikiloderma [EXACT] RTS [EXACT] |
| Parent Relationships |
is_a skin disease |