OBO ID: DOID:2732
Term Name: Rothmund-Thomson syndrome Search Ontology:
Synonyms:
  • Congenital poikiloderma
  • RTS
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/
References:
Ontology: Human Disease   (DOID:2732)
Relationships
is a type of:
OTHER Rothmund-Thomson syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RECQL4 Rothmund-Thomson syndrome, type 2 268400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None