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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 the COG1 gene 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


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16537452 PMID:17576681 PMID:19008299 More... NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292 		JBrowse link
G Vcf1 VCP nuclear cofactor family member 1 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 18969
    physical disorder 4965
      congenital disorder of glycosylation 540
        congenital disorder of glycosylation type II 237
          congenital disorder of glycosylation type IIg 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          inherited metabolic disorder 6257
            carbohydrate metabolic disorder 3309
              congenital disorder of glycosylation 540
                congenital disorder of glycosylation type II 237
                  congenital disorder of glycosylation type IIg 2
paths to the root