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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: MIM:615597
 xref: ORDO:370924


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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 term: CDG Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23842455 PMID:25741868 PMID:28492532 More... NCBI chr 8:114,928,678...114,994,027
Ensembl chr 8:114,917,824...114,994,028 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    physical disorder 5185
      congenital disorder of glycosylation 585
        congenital disorder of glycosylation type I 301
          congenital disorder of glycosylation Ix 1
Path 2
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            carbohydrate metabolic disorder 3411
              congenital disorder of glycosylation 585
                congenital disorder of glycosylation type I 301
                  congenital disorder of glycosylation Ix 1
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