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ONTOLOGY REPORT - ANNOTATIONS


Term:XFE progeroid syndrome
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Accession:DOID:0060590 term browser browse the term
Definition:A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_ material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: XFEPS;   XPF-ERCC1 Progeroid Syndrome
 primary_id: MESH:C567043
 alt_id: OMIM:610965;   RDO:0015228
 xref: GARD:10628
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XFE progeroid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:13592920
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Cockayne syndrome 11
        XFE progeroid syndrome 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              Dwarfism 308
                Cockayne syndrome 11
                  XFE progeroid syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.