Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 COG6 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
 primary_id: OMIM:614576
 alt_id: RDO:9000247
 xref: GARD:10944;   ORDO:464443
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by OMIM:614576
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2L
OMIM
ClinVar
PMID:20605848, PMID:23430903, PMID:23606727, PMID:24033266, PMID:24667118, PMID:24667119, PMID:25558065, PMID:25741868, PMID:26260076, PMID:26937396, PMID:28492532 NCBI chr 2:142,197,566...142,235,054
Ensembl chr 2:142,196,754...142,235,066
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            congenital disorder of glycosylation 122
              congenital disorder of glycosylation type II 47
                congenital disorder of glycosylation type IIl 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              congenital disorder of glycosylation 122
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIl 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.