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COG5-congenital disorder of glycosylation - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:COG5-congenital disorder of glycosylation
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Accession:EFO:MONDO:0013325 term browser browse the term
Definition:COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
Synonyms:exact_synonym: CDG syndrome type III;   CDG2I;   COG5-CDG;   DOID:0070261;   Orphanet:263487;   carbohydrate deficient glycoprotein syndrome type III;   congenital disorder of glycosylation type 2i;   http://identifiers.org/medgen/462226;   http://identifiers.org/snomedct/721100009;   http://linkedlifedata.com/resource/umls/id/C3150876;   https://omim.org/entry/613612
 related_synonym: CDG III;   CDG syndrome type 3;   COG5-CDG (CDG-III);   congenital disorder of glycosylation, type III
 alt_id: MONDO:0013325
 xref: DOID:0070261;   GARD:12348;   MEDGEN:462226;   MIM:613612;   ORDO:263487;   SCTID:721100009;   UMLS:C3150876
 see_also: https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3" xsd:anyURI {source="GARD:0001173

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            COG5-congenital disorder of glycosylation 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            disorder of glycosylation 0
              congenital disorder of glycosylation 0
                disorder of multiple glycosylation 0
                  defect in conserved oligomeric Golgi complex 0
                    COG5-congenital disorder of glycosylation 0
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