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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ig
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Accession:DOID:0080559 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. (DO)
Synonyms:exact_synonym: ALG12-congenital disorder of glycosylation;   CDG Ig;   CDG1G;   CDGIg;   congenital disorder of glycosylation 1g;   congenital disorder of glycosylation type 1G;   congenital disorder of glycosylation, type IG
 primary_id: MESH:C535745
 alt_id: OMIM:607143;   RDO:0001034
 xref: GARD:9833;   ORDO:79324
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congenital disorder of glycosylation Ig term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg12 ALG12, alpha-1,6-mannosyltransferase JBrowse link 7 129,798,663 129,812,677 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Ig 1
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Ig 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.