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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.
Term:Rothmund-Thomson syndrome
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Accession:DOID:2732 term browser browse the term
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. (DO)
Synonyms:exact_synonym: RTS;   Rothmund-Thomson poikiloderma;   congenital poikiloderma;   poikiloderma congenitale;   poikiloderma congenitale of Rothmund-Thomson;   poikiloderma congenitales;   poikiloderma of Rothmund Thomson
 primary_id: MESH:D011038
 xref: GARD:4392;   NCI:C3335;   OMIM:PS268400
For additional species annotation, visit the Alliance of Genome Resources.


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Rothmund-Thomson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO
ISS		 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
MouseDO
CTD
RGD		 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 More... RGD:1599421 NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
rapadilino syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
Rothmund-Thomson Syndrome Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc1 anaphase promoting complex subunit 1 ISO ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31303264 NCBI chr 3:115,850,117...115,930,259
Ensembl chr 3:115,850,185...115,930,273 		JBrowse link
Rothmund-Thomson Syndrome Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 OMIM
ClinVar		 PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Rothmund-Thomson syndrome 2
        PARC Syndrome 0
        Rothmund-Thomson Syndrome Type 1 1
        Rothmund-Thomson Syndrome Type 2 1
        Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris 0
        Spastic Paraplegia with Neuropathy and Poikiloderma 0
        rapadilino syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Skin Abnormalities 1296
                Rothmund-Thomson syndrome 2
                  PARC Syndrome 0
                  Rothmund-Thomson Syndrome Type 1 1
                  Rothmund-Thomson Syndrome Type 2 1
                  Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris 0
                  Spastic Paraplegia with Neuropathy and Poikiloderma 0
                  rapadilino syndrome 1
paths to the root