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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        inherited metabolic disorder 2222
          carbohydrate metabolic disorder 386
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type I 68
                congenital disorder of glycosylation In 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2222
            carbohydrate metabolic disorder 386
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type I 68
                  congenital disorder of glycosylation In 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.