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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 Ie
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Accession:DOID:0080557 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: CDG Ie;   CDG1E;   CDGIe;   congenital disorder of glycosylation 1e;   congenital disorder of glycosylation type 1E;   congenital disorder of glycosylation, type IE
 primary_id: MESH:C535743
 alt_id: OMIM:608799;   RDO:0001032
 xref: GARD:9831;   NCI:C126871;   ORDO:79322
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation Ie term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E OMIM
ClinVar
PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:16199547 More... NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536
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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 Ie 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 Ie 1
paths to the root