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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 Im
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Accession:DOID:0080565 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. (DO)
Synonyms:exact_synonym: CDG Im;   CDG1m;   CDGIm;   Congenital Disorder of Glycosylation Type 1M;   DK1 DEFICIENCY;   DOLK-congenital disorder of glycosylation;   congenital disorder of glycosylation 1m;   congenital disorder of glycosylation, type Im;   dolichol kinase deficiency
 primary_id: MESH:C563666
 alt_id: OMIM:610768;   RDO:0012864
 xref: GARD:12393;   ORDO:91131
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital disorder of glycosylation Im term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dolk dolichol kinase ISO ClinVar Annotator: match by OMIM:610768
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M
ClinVar
OMIM
PMID:17273964 PMID:22242004 PMID:23806237 PMID:23890587 PMID:24033266 PMID:25741868 PMID:25819062 PMID:27212206 PMID:28074886 PMID:28492532 PMID:28816422 NCBI chr 3:8,850,154...8,852,192
Ensembl chr 3:8,850,154...8,852,192
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M ClinVar NCBI chr 3:8,852,271...8,908,608
Ensembl chr 3:8,873,933...8,908,438
JBrowse link

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 I 70
          congenital disorder of glycosylation Im 2
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 I 70
                  congenital disorder of glycosylation Im 2
paths to the root