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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 1h;   congenital disorder of glycosylation type 1H;   congenital disorder of glycosylation type IH
 primary_id: MESH:C535746
 alt_id: OMIM:608104
 xref: GARD:9834;   ORDO:79325
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation Ih term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg8 ALG8, alpha-1,3-glucosyltransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H OMIM
ClinVar
PMID:9536098 PMID:12480927 PMID:15235028 PMID:16199547 PMID:17576681 More... NCBI chr 1:151,684,344...151,704,310
Ensembl chr 1:151,684,396...151,704,302
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          congenital disorder of glycosylation Ih 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2568
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type I 136
                  congenital disorder of glycosylation Ih 1
paths to the root