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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 type IIa
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Accession:DOID:0070253 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3. (DO)
Synonyms:exact_synonym: Alkuraya syndrome;   CDG IIA;   CDG2A;   CDGIIA;   CDGS2;   Carbohydrate-deficient glycoprotein syndrome, type 2;   carbohydrate-deficient glycoprotein syndrome, type II;   congenital disorder of glycosylation type 2A;   mental retardation, growth retardation, prominent columella, and open mouth
 primary_id: MESH:C535752
 alt_id: OMIM:212066;   RDO:0001041
 xref: GARD:9828;   ORDO:79329
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa ClinVar PMID:28492532 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa
ClinVar Annotator: match by OMIM:212066
ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome type II
OMIM
ClinVar
PMID:8808595, PMID:11228641, PMID:20684000, PMID:22105986, PMID:23806237, PMID:25558065, PMID:25741868, PMID:28492532 NCBI chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        Metabolic Bone Diseases 375
          congenital disorder of glycosylation type IIa 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          inherited metabolic disorder 2231
            carbohydrate metabolic disorder 387
              congenital disorder of glycosylation 120
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIa 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.