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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:A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. (DO)
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
 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 term: CDG Ik | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K OMIM
ClinVar
PMID:9536098 PMID:14709599 PMID:14973778 PMID:14973782 PMID:16199547 More... NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K ClinVar PMID:9536098 PMID:14709599 PMID:14973782 PMID:17576681 PMID:20679665 More... NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          congenital disorder of glycosylation Ik 2
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2568
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type I 136
                  congenital disorder of glycosylation Ik 2
paths to the root