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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 the MAGT1 gene on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: CDG1CC;   congenital disorder of glycosylation type 1CC;   congenital disorder of glycosylation type Icc
 broad_synonym: MAGT1-RELATED CONDITION
 primary_id: OMIM:301031

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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 OMIM
ClinVar		 PMID:24550228 PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 NCBI chrNW_004936683:2,737,545...2,775,679
Ensembl chrNW_004936683:2,735,217...2,775,679 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      congenital disorder of glycosylation 520
        congenital disorder of glycosylation type I 257
          congenital disorder of glycosylation Icc 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5214
            carbohydrate metabolic disorder 2562
              congenital disorder of glycosylation 520
                congenital disorder of glycosylation type I 257
                  congenital disorder of glycosylation Icc 1
paths to the root