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;   CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II;   CDG IIA;   CDG2A;   CDGIIA;   CDGS2;   Carbohydrate-deficient glycoprotein syndrome, type 2;   Congenital Disorder of Glycosylation Type 2A;   mental retardation, growth retardation, prominent columella, and open mouth
 primary_id: MESH:C535752
 alt_id: DOID:9004089;   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 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:7240710
RGD:8554872

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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        Metabolic Bone Diseases 368
          congenital disorder of glycosylation type IIa 2
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Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              congenital disorder of glycosylation 83
                congenital disorder of glycosylation type II 37
                  congenital disorder of glycosylation type IIa 2
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