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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ia
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Accession:DOID:0080552 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. (DO)
Synonyms:exact_synonym: CDG Ia;   CDG1A;   CDGIa;   Carbohydrate-Deficient Glycoprotein Syndrome Type Ia;   Congenital Disorder of Glycosylation Type 1A;   Congenital Disorder of Glycosylation Type Ia;   Jaeken syndrome;   PMM2-congenital disorder of glycosylation;   carbohydrate-deficient glycoprotein syndrome type 1A;   congenital disorder of glycosylation 1a;   phosphomannomutase 2 deficiency
 primary_id: MESH:C535739
 alt_id: OMIM:212065;   RDO:0001027
 xref: GARD:9826;   ORDO:79318
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congenital disorder of glycosylation Ia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12910858
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:12910858
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910858
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12910858
G Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 RGD:7240710
RGD:8554872
RGD:11554173
G Tmem186 transmembrane protein 186 JBrowse link 10 7,077,488 7,080,806 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Ia 7
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Ia 7
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