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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 16022
    syndrome 6143
      Cockayne syndrome 12
        XFE progeroid syndrome 2
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal recessive disease 2386
                Cockayne syndrome 12
                  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.