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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 Icc
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Accession:DOID:0111839 term browser browse the term
Definition:A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in MAGT1 on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: CDG1CC;   Congenital Disorder of Glycosylation Type 1CC;   congenital disorder of glycosylation type Icc
 primary_id: OMIM:301031
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation Icc term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC
OMIM
ClinVar
PMID:25135935 PMID:25741868 PMID:31036665 NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      congenital disorder of glycosylation 210
        congenital disorder of glycosylation type I 102
          congenital disorder of glycosylation Icc 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          inherited metabolic disorder 2606
            carbohydrate metabolic disorder 524
              congenital disorder of glycosylation 210
                congenital disorder of glycosylation type I 102
                  congenital disorder of glycosylation Icc 1
paths to the root