RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
RTS; Rothmund-Thomson poikiloderma; congenital poikiloderma; poikiloderma congenitale; poikiloderma congenitale of Rothmund-Thomson; poikiloderma congenitales; poikiloderma of Rothmund Thomson
ClinVar Annotator: match by term: Poikiloderma of Rothmund-Thomson | ClinVar Annotator: match by term: Rothmund-Thomson syndrome OMIM:268400 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome CTD Direct Evidence: marker/mechanism