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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 Ik
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Accession:DOID:0080563 term browser browse the term
Definition:Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi. Congenital disorder of glycosylation type Ik is caused by homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase (ALG1) on chromosome 16p13. (OMIM)
Synonyms:exact_synonym: CDG Ik;   CDG1K;   CDGIk;   congenital disorder of glycosylation 1k;   congenital disorder of glycosylation, type 1K;   congenital disorder of glycosylation, type IK
 primary_id: MESH:C535749
 alt_id: OMIM:608540;   RDO:0001038
 xref: GARD:9838;   ORDO:79327
For additional species annotation, visit the Alliance of Genome Resources.

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congenital disorder of glycosylation Ik term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by OMIM:608540
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K		 OMIM
ClinVar		 PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:23757202 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26453362 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138 		JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K ClinVar PMID:14709599 PMID:22966035 PMID:25741868 PMID:26931382 PMID:28492532 NCBI chr10:10,530,302...10,540,428
Ensembl chr10:10,530,365...10,540,428 		JBrowse link
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 I 73
          congenital disorder of glycosylation Ik 2
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 I 73
                  congenital disorder of glycosylation Ik 2
paths to the root