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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ix
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Accession:DOID:0080573 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. (DO)
Synonyms:exact_synonym: CDG Ix;   CDG1X;   CDGIx;   congenital disorder of glycosylation 1x;   congenital disorder of glycosylation type 1X;   congenital disorder of glycosylation, type Ix
 primary_id: MESH:C535751
 alt_id: OMIM:615597
 xref: ORDO:370924
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congenital disorder of glycosylation Ix term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B JBrowse link 8 123,303,910 123,370,729 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      hematopoietic system disease 1469
        hemorrhagic disease 491
          blood platelet disease 193
            thrombocytopenia 133
              congenital disorder of glycosylation Ix 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      Hemic and Lymphatic Diseases 1748
        hematopoietic system disease 1469
          blood coagulation disease 503
            hemorrhagic disease 491
              blood platelet disease 193
                thrombocytopenia 133
                  congenital disorder of glycosylation Ix 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.