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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 In
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Accession:DOID:0080566 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: CDG In;   CDG1N;   CDGIn;   congenital disorder of glycosylation 1n;   congenital disorder of glycosylation, type 1N;   congenital disorder of glycosylation, type In
 primary_id: MESH:C567437
 alt_id: OMIM:612015;   RDO:0015505
 xref: GARD:12394;   ORDO:244310
For additional species annotation, visit the Alliance of Genome Resources.

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congenital disorder of glycosylation In term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by OMIM:612015
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N		 OMIM
ClinVar		 PMID:18313027 PMID:19701946 PMID:19856127 PMID:23111317 PMID:25741868 PMID:28492532 PMID:28940310 NCBI chr16:6,712,387...6,746,711
Ensembl chr16:6,712,389...6,746,696 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital disorder of glycosylation 125
        congenital disorder of glycosylation type I 71
          congenital disorder of glycosylation In 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 125
                congenital disorder of glycosylation type I 71
                  congenital disorder of glycosylation In 1
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