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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 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.


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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital disorder of glycosylation 127
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIl 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 127
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIl 1
paths to the root