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: 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
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

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Path 1
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  disease 14875
    syndrome 4220
      Bloom syndrome 4
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                Bloom syndrome 4
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