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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ih
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Accession:DOID:0080560 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. (DO)
Synonyms:exact_synonym: CDG IH;   CDG1H;   CDGIH;   Congenital Disorder of Glycosylation Type 1H;   Congenital Disorder of Glycosylation, Type IH;   congenital disorder of glycosylation 1h
 primary_id: MESH:C535746
 alt_id: OMIM:608104;   RDO:0001035
 xref: GARD:9834;   ORDO:79325
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congenital disorder of glycosylation Ih term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg8 ALG8, alpha-1,3-glucosyltransferase JBrowse link 1 162,342,061 162,362,139 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15620
    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 Ih 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Ih 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.