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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 Ic
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Accession:DOID:0080555 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: CDG Ic;   CDG1C;   CDGIc;   CDGS5;   carbohydrate-deficient glycoprotein syndrome type I, with deficient glycosylation of dolichol-linked oligosaccharide;   carbohydrate-deficient glycoprotein syndrome type V;   congenital disorder of glycosylation 1c;   congenital disorder of glycosylation type 1C;   congenital disorder of glycosylation, type Ic
 primary_id: MESH:C535741
 alt_id: OMIM:603147
 xref: GARD:9829;   NCI:C126869;   ORDO:79320
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation Ic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg6 ALG6, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by OMIM:603147
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C
OMIM
ClinVar
PMID:10359825, PMID:10852543, PMID:10914684, PMID:10924277, PMID:11106564, PMID:11558905, PMID:12855228, PMID:14517965, PMID:15771971, PMID:16007612, PMID:16321363, PMID:18414213, PMID:19862844, PMID:20398363, PMID:20447155, PMID:21334936, PMID:21899441, PMID:23044053, PMID:23430515, PMID:25525159, PMID:25741868, PMID:26117549, PMID:26453362, PMID:27287710, PMID:27959697, PMID:28492532 NCBI chr 5:118,415,680...118,470,634
Ensembl chr 5:118,418,799...118,469,376
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        inherited metabolic disorder 2238
          carbohydrate metabolic disorder 393
            congenital disorder of glycosylation 122
              congenital disorder of glycosylation type I 68
                congenital disorder of glycosylation Ic 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          inherited metabolic disorder 2238
            carbohydrate metabolic disorder 393
              congenital disorder of glycosylation 122
                congenital disorder of glycosylation type I 68
                  congenital disorder of glycosylation Ic 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.