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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 the MGAT2 gene 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: MIM:212066
 xref: GARD:9828;   ORDO:79329


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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: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:93,397,157...93,406,323
Ensembl chr 6:93,397,164...93,406,323 		JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO
ISS 		ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa
CTD Direct Evidence: marker/mechanism
OMIM:212066 		OMIM
ClinVar
CTD
MouseDO		 PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 More... NCBI chr 6:93,392,416...93,394,905
Ensembl chr 6:93,390,555...93,395,176 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital disorder of glycosylation 585
        congenital disorder of glycosylation type II 242
          congenital disorder of glycosylation type IIa 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              congenital disorder of glycosylation 585
                congenital disorder of glycosylation type II 242
                  congenital disorder of glycosylation type IIa 2
paths to the root