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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
 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 term: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313027 PMID:19701946 More... NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    physical disorder 4115
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          congenital disorder of glycosylation In 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            carbohydrate metabolic disorder 2561
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type I 136
                  congenital disorder of glycosylation In 1
paths to the root