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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


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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 Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E ClinVar PMID:10642597 PMID:10642602 PMID:28492532 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDG Ie | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10642597 PMID:10642602 PMID:15669674 PMID:15771971 More... NCBI chr 3:156,919,979...156,939,522
Ensembl chr 3:156,919,979...156,939,536 		JBrowse link
G Mocs3 molybdenum cofactor synthesis 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1E ClinVar PMID:10642597 PMID:10642602 PMID:28492532 NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital disorder of glycosylation 540
        congenital disorder of glycosylation type I 265
          congenital disorder of glycosylation Ie 3
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          inherited metabolic disorder 6257
            carbohydrate metabolic disorder 3309
              congenital disorder of glycosylation 540
                congenital disorder of glycosylation type I 265
                  congenital disorder of glycosylation Ie 3
paths to the root