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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 IIh
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Accession:DOID:0070260 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: CDG IIIH;   CDG IIh;   CDG2H;   CDGIIH;   CDGIIdh;   COG8-CDG;   carbohydrate deficient glycoprotein syndrome type IIh;   congenital disorder of glycosylation type 2H
 primary_id: MESH:C566987
 alt_id: OMIM:611182;   RDO:0015179
 xref: GARD:12411;   ORDO:95428
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIh term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H
ClinVar Annotator: match by OMIM:611182
OMIM
ClinVar
PMID:17220172 PMID:17331980 PMID:23806237 PMID:25741868 PMID:28492532 PMID:30690882 NCBI chr19:39,246,656...39,257,406
Ensembl chr19:39,246,625...39,257,451
JBrowse link
G Pdf peptide deformylase (mitochondrial) ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H ClinVar NCBI chr19:39,244,242...39,246,636
Ensembl chr19:39,245,212...39,246,545
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital disorder of glycosylation 125
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIh 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 125
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIh 2
paths to the root