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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 IIg
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Accession:DOID:0070259 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG1 on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: CDG IIG;   CDG2G;   CDGII/COG1 cerebrocostomandibular-like syndrome;   CDGIIG;   carbohydrate deficient glycoprotein syndrome type IIg;   congenital disorder of glycosylation type 2G
 primary_id: MESH:C535756
 alt_id: OMIM:611209
 xref: GARD:10226;   ORDO:263508
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation type IIg term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G OMIM
ClinVar
PMID:9536098 PMID:16537452 PMID:17576681 PMID:19008299 PMID:23757202 More... NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292
JBrowse link
G Fam104a family with sequence similarity 104, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G ClinVar PMID:25741868 PMID:28492532 NCBI chr10:98,707,404...98,728,486
Ensembl chr10:98,707,410...98,728,728
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type II 106
          congenital disorder of glycosylation type IIg 2
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            carbohydrate metabolic disorder 2561
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type II 106
                  congenital disorder of glycosylation type IIg 2
paths to the root