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ONTOLOGY REPORT - ANNOTATIONS


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
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congenital disorder of glycosylation type IIa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:7240710
RGD:8554872

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  disease 15599
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        Metabolic Bone Diseases 367
          congenital disorder of glycosylation type IIa 2
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          inherited metabolic disorder 1858
            carbohydrate metabolic disorder 321
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type II 38
                  congenital disorder of glycosylation type IIa 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.