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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
 xref: GARD:12393;   ORDO:91131


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG Im | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M | ClinVar Annotator: match by term: DOLICHOL KINASE DEFICIENCY | ClinVar Annotator: match by term: DOLK-congenital disorder of glycosylation		 OMIM
CTD
ClinVar		 PMID:17273964 PMID:22242004 PMID:23806237 PMID:23890587 PMID:24033266 More... NCBI chr 3:13,557,826...13,559,864
Ensembl chr 3:13,557,817...13,559,917 		JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1M ClinVar NCBI chr 3:13,559,917...13,616,313
Ensembl chr 3:13,559,990...13,616,307 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital disorder of glycosylation 540
        congenital disorder of glycosylation type I 265
          congenital disorder of glycosylation Im 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              congenital disorder of glycosylation 540
                congenital disorder of glycosylation type I 265
                  congenital disorder of glycosylation Im 2
paths to the root