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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 Id
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Accession:DOID:0080556 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. (DO)
Synonyms:exact_synonym: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV;   CDG Id;   CDG1D;   CDGId;   CDGS, TYPE IV;   CDGS4;   carbohydrate-deficient glycoprotein syndrome, type 4;   congenital disorder of glycosylation 1d;   congenital disorder of glycosylation type 1D;   congenital disorder of glycosylation type ID
 primary_id: MESH:C535742
 alt_id: OMIM:601110
 xref: GARD:9827;   NCI:C126870;   ORDO:79321
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation Id term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: CDGS, TYPE IV | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D OMIM
ClinVar		 PMID:8552211 PMID:10581255 PMID:15108280 PMID:15840742 PMID:16006436 More... NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912 		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 Id 1
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 Id 1
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