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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 Type 1
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Accession:DOID:9003349 term browser browse the term
Synonyms:exact_synonym: RTS1;   Rothmund-Thomson syndrome 1;   poikiloderma atrophicans and cataract
 primary_id: OMIM:618625


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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Rothmund-Thomson syndrome 2
        Rothmund-Thomson Syndrome Type 1 1
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            skin disease 3966
              Skin Abnormalities 1296
                Rothmund-Thomson syndrome 2
                  Rothmund-Thomson Syndrome Type 1 1
paths to the root