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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 Type 1X;   Congenital Disorder of Glycosylation, Type Ix;   congenital disorder of glycosylation 1x
 primary_id: MESH:C535751
 alt_id: DOID:9002063;   OMIM:615597;   RDO:0001040;   RDO:9001009
 xref: ORDO:370924
For additional species annotation, visit the Alliance of Genome Resources.


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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 15619
    disease of anatomical entity 14948
      hematopoietic system disease 1451
        hemorrhagic disease 456
          blood platelet disease 196
            thrombocytopenia 133
              congenital disorder of glycosylation Ix 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          blood coagulation disease 468
            hemorrhagic disease 456
              blood platelet disease 196
                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.