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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 Type IIaa
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Accession:DOID:9007649 term browser browse the term
Definition:An autosomal recessive disorder characterized by infantile mortality due to liver disease, skeletal abnormalities, and protein glycosylation defects. Caused by homozygous mutation in the STX5 gene on chromosome 11q12.
Synonyms:exact_synonym: CDG IIaa;   CDG2AA;   CDGIIAA
 primary_id: OMIM:620454


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Congenital Disorder of Glycosylation Type IIaa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx5 syntaxin 5 ISO OMIM NCBI chr 1:205,637,401...205,653,563
Ensembl chr 1:205,637,413...205,653,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital disorder of glycosylation 539
        congenital disorder of glycosylation type II 237
          Congenital Disorder of Glycosylation Type IIaa 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              congenital disorder of glycosylation 539
                congenital disorder of glycosylation type II 237
                  Congenital Disorder of Glycosylation Type IIaa 1
paths to the root