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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ij
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Accession:DOID:0080562 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. (DO)
Synonyms:exact_synonym: CDG Ij;   CDG1J;   CDGIj;   congenital disorder of glycosylation 1j;   congenital disorder of glycosylation type 1J;   congenital disorder of glycosylation, type IJ
 primary_id: MESH:C535748
 alt_id: OMIM:608093;   RDO:0001037
 xref: GARD:9837;   ORDO:86309
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congenital disorder of glycosylation Ij term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 8 48,657,779 48,664,531 RGD:7240710
RGD:8554872
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1879
          carbohydrate metabolic disorder 326
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Ij 2
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          inherited metabolic disorder 1879
            carbohydrate metabolic disorder 326
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Ij 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.