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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 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
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 OMIM:608104
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H
OMIM
ClinVar
PMID:12480927, PMID:15235028, PMID:19862844, PMID:25428507, PMID:25741868, PMID:26066342, PMID:26653770, PMID:28492532, PMID:28940310 NCBI chr 1:162,342,061...162,362,139
Ensembl chr 1:162,342,051...162,362,141
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          carbohydrate metabolic disorder 386
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type I 68
                congenital disorder of glycosylation Ih 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            carbohydrate metabolic disorder 386
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type I 68
                  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.