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ONTOLOGY REPORT - ANNOTATIONS


Term:Bloom syndrome
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Accession:DOID:2717 term browser browse the term
Definition:An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
Synonyms:exact_synonym: BLM;   BLS;   BS;   Bloom Torre Machacek syndrome;   Bloom's syndrome;   MGRISCE1;   congenital telangiectatic erythema;   congenital telangiectatic erythema syndrome;   microcephaly, growth restriction, and increased sister chromatid exchange 1
 related_synonym: DNA ligase I deficiency
 primary_id: MESH:D001816
 alt_id: OMIM:210900;   RDO:0005025
 xref: NCI:C2903;   ORDO:125
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Bloom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blm BLM RecQ like helicase JBrowse link 1 142,246,773 142,332,616 RGD:1580056
RGD:1599420
RGD:7240710
RGD:8554872
RGD:11554173
G Lig1 DNA ligase 1 JBrowse link 1 75,356,212 75,394,757 RGD:8554872
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 7 99,677,295 99,900,765 RGD:13592920
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:11554173

Term paths to the root
Path 1
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  disease 15619
    syndrome 5154
      Bloom syndrome 4
Path 2
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  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                Bloom syndrome 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.