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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 16085
    physical disorder 2526
      congenital disorder of glycosylation 124
        congenital disorder of glycosylation type I 70
          congenital disorder of glycosylation Ih 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            carbohydrate metabolic disorder 398
              congenital disorder of glycosylation 124
                congenital disorder of glycosylation type I 70
                  congenital disorder of glycosylation Ih 1
paths to the root