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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 IIn
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Accession:DOID:0070266 term browser browse the term
Definition:An autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. (OMIM)
Synonyms:exact_synonym: CDG IIn;   CDG syndrome type IIn;   CDG2N;   CDGIIdn;   CDGIIn;   SLC39A8-CDG;   carbohydrate deficient glycoprotein syndrome type IIn;   congenital disorder of glycosylation type 2N
 primary_id: OMIM:616721
 alt_id: RDO:9000375;   RDO:9000405
 xref: ORDO:468699
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIn term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
ClinVar Annotator: match by term: SLC39A8-CDG
OMIM
ClinVar
PMID:25073507 PMID:25741868 PMID:26637978 PMID:26637979 PMID:26694549 PMID:32313153 NCBI chr 2:241,028,851...241,092,584
Ensembl chr 2:241,029,693...241,092,582
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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 II 47
          congenital disorder of glycosylation type IIn 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 II 47
                  congenital disorder of glycosylation type IIn 1
paths to the root