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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 IIl
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Accession:DOID:0070264 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. (DO)
Synonyms:exact_synonym: CDG IIl;   CDG syndrome type IIL;   CDG2L;   CDGIIdl;   CDGIIl;   COG6-CGD;   congenital disorder of glycosylation type 2L
 broad_synonym: COG6-RELATED CONDITION
 primary_id: OMIM:614576
 xref: GARD:10944;   ORDO:464443


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congenital disorder of glycosylation type IIl term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog6 component of oligomeric golgi complex 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COG6-CGD | ClinVar Annotator: match by term: COG6-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20605848 PMID:23430903 More... NCBI chr 2:137,062,127...137,099,176
Ensembl chr 2:137,061,346...137,099,190 		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 IIl 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 IIl 1
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