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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 Iaa
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Accession:DOID:0080553 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. (DO)
Synonyms:exact_synonym: CDG1AA;   congenital disorder of glycosylation 1aa;   congenital disorder of glycosylation type 1AA;   congenital disorder of glycosylation type Iaa
 primary_id: OMIM:617082
 alt_id: RDO:9001414
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation Iaa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iaa
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa
ClinVar
OMIM
PMID:25066056, PMID:25741868, PMID:28492532 NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          carbohydrate metabolic disorder 386
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type I 68
                congenital disorder of glycosylation Iaa 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            carbohydrate metabolic disorder 386
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type I 68
                  congenital disorder of glycosylation Iaa 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.