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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation Ix term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B ISO ClinVar Annotator: match by OMIM:615597
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x
OMIM
ClinVar
PMID:23842455, PMID:25741868, PMID:28492532 NCBI chr 8:123,303,910...123,370,729
Ensembl chr 8:123,293,057...123,371,257
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      hematopoietic system disease 1641
        hemorrhagic disease 610
          blood platelet disease 291
            thrombocytopenia 217
              congenital disorder of glycosylation Ix 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          blood coagulation disease 623
            hemorrhagic disease 610
              blood platelet disease 291
                thrombocytopenia 217
                  congenital disorder of glycosylation Ix 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.