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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;   Congenital Disorder of Glycosylation Type 1D;   carbohydrate-deficient glycoprotein syndrome, type 4;   congenital disorder of glycosylation 1d;   congenital disorder of glycosylation, type ID
 primary_id: MESH:C535742
 alt_id: OMIM:601110;   RDO:0001031
 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 OMIM:601110
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D		 OMIM
ClinVar		 PMID:8552211 PMID:10581255 PMID:15108280 PMID:15840742 PMID:16006436 PMID:17551933 PMID:23806237 PMID:25741868 PMID:28492532 NCBI chr11:83,985,484...83,991,706
Ensembl chr11:83,986,230...83,991,706 		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 Id 1
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 Id 1
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