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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 Type IIv
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Accession:DOID:9005531 term browser browse the term
Definition:An autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms. Caused by homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. (OMIM)
Synonyms:exact_synonym: CDG2V;   congenital disorder of glycosylation, type 2V
 primary_id: OMIM:619493


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Congenital Disorder of Glycosylation Type IIv term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edem3 ER degradation enhancing alpha-mannosidase like protein 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v OMIM
ClinVar		 PMID:25741868 PMID:34143952 NCBI chr13:63,858,282...63,920,538
Ensembl chr13:63,858,716...63,920,523 		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 II 237
          Congenital Disorder of Glycosylation Type IIv 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          inherited metabolic disorder 6257
            carbohydrate metabolic disorder 3309
              congenital disorder of glycosylation 540
                congenital disorder of glycosylation type II 237
                  Congenital Disorder of Glycosylation Type IIv 1
paths to the root