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ONTOLOGY REPORT - ANNOTATIONS


Term:xeroderma pigmentosum group D
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Accession:DOID:0110845 term browser browse the term
Definition:A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. (DO)
Synonyms:exact_synonym: XP, Group D;   XP, group H;   XP4;   XP4 XERODERMA PIGMENTOSUM VIII;   XP8;   XPD;   XPDC;   XPH;   xeroderma pigmentosum IV;   xeroderma pigmentosum VIII
 primary_id: MESH:C562591
 alt_id: OMIM:278730;   RDO:0012239
For additional species annotation, visit the Alliance of Genome Resources.


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xeroderma pigmentosum group D 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:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:7240710
RGD:8554872

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  disease 15625
    disease of cellular proliferation 5796
      pre-malignant neoplasm 282
        xeroderma pigmentosum 18
          xeroderma pigmentosum group D 2
Path 2
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            autosomal genetic disease 3617
              autosomal recessive disease 2056
                xeroderma pigmentosum 18
                  xeroderma pigmentosum group D 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.