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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 OMIM:608799
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E
OMIM
ClinVar
PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:16641202 PMID:17576681 PMID:23856421 PMID:25741868 PMID:26729507 PMID:27481510 PMID:28492532 NCBI chr 3:164,966,637...164,986,180
Ensembl chr 3:164,966,637...164,986,180
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital disorder of glycosylation 181
        congenital disorder of glycosylation type I 74
          congenital disorder of glycosylation Ie 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            carbohydrate metabolic disorder 459
              congenital disorder of glycosylation 181
                congenital disorder of glycosylation type I 74
                  congenital disorder of glycosylation Ie 1
paths to the root