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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 IIk
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Accession:DOID:0070263 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12. (DO)
Synonyms:exact_synonym: CDG IIk;   CDG syndrome type IIk;   CDG2k;   CDGIIdk;   CDGIIk;   TMEM165-CDG;   carbohydrate deficient glycoprotein syndrome type IIk;   congenital disorder of glycosylation type 2K
 primary_id: OMIM:614727
 alt_id: RDO:9000246
 xref: GARD:12413;   ORDO:314667
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIk term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem165 transmembrane protein 165 ISO ClinVar Annotator: match by OMIM:614727
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2k
OMIM
ClinVar
PMID:22683087 PMID:28492532 NCBI chr14:34,503,037...34,528,262
Ensembl chr14:34,503,038...34,528,262
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital disorder of glycosylation 124
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIk 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            carbohydrate metabolic disorder 398
              congenital disorder of glycosylation 124
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIk 1
paths to the root