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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 16092
    physical disorder 2459
      congenital disorder of glycosylation 125
        congenital disorder of glycosylation type I 71
          congenital disorder of glycosylation Ic 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          inherited metabolic disorder 2233
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 125
                congenital disorder of glycosylation type I 71
                  congenital disorder of glycosylation Ic 1
paths to the root