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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:An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
Synonyms:exact_synonym: RTS;   Rothmund-Thomson poikiloderma;   congenital poikiloderma;   poikiloderma congenitale;   poikiloderma congenitale of Rothmund-Thomson;   poikiloderma congenitales;   poikiloderma of Rothmund Thomson
 narrow_synonym: HIGH GRADE SURFACE OSTEOSARCOMA
 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 ClinVar Annotator: match by term: Rothmund-Thomson syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
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: Rapadilino syndrome
ClinVar Annotator: match by OMIM:266280		 OMIM
ClinVar		 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
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
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Poikiloderma atrophicans and cataract ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:15964893 PMID:18716613 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 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 17435
    syndrome 8262
      Rothmund-Thomson syndrome 2
        PARC Syndrome 0
        Rothmund-Thomson Syndrome Type 1 2
        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 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        sensory system disease 5712
          skin disease 3002
            Genetic Skin Diseases 1058
              Rothmund-Thomson syndrome 2
                PARC Syndrome 0
                Rothmund-Thomson Syndrome Type 1 2
                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