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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 16092
    physical disorder 2459
      congenital disorder of glycosylation 125
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIa 2
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 II 47
                  congenital disorder of glycosylation type IIa 2
paths to the root