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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 Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: High Grade Surface Osteosarcoma ClinVar PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Rothmund-Thomson syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:15964893 PMID:17250521 PMID:18616953 PMID:18716613 PMID:21418107 PMID:24033266 PMID:24635570 PMID:25120469 PMID:25326635 PMID:25741868 PMID:27247962 PMID:28492532, PMID:10678659 RGD:1599421 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134 		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:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:17250975 PMID:18504617 PMID:18716613 PMID:22885111 PMID:23238538 PMID:24635570 PMID:25741868 PMID:25966250 PMID:28492532 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134 		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:31303264 NCBI chr 3:121,147,484...121,226,125
Ensembl chr 3:121,147,547...121,226,125 		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:18716613 PMID:25741868 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134 		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:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15964893 PMID:18716613 PMID:19291770 PMID:20503338 PMID:21143835 PMID:21418107 PMID:24518840 PMID:24635570 PMID:25120469 PMID:25741868 PMID:27247962 PMID:28039508 PMID:28486640 PMID:28492532 PMID:30311386 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Rothmund-Thomson syndrome 3
        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 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            Genetic Skin Diseases 894
              Rothmund-Thomson syndrome 3
                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