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ONTOLOGY REPORT - ANNOTATIONS


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, TYPE 1AA;   congenital disorder of glycosylation 1aa;   congenital disorder of glycosylation type Iaa
 primary_id: OMIM:617082
 alt_id: DOID:9007792;   RDO:9001414
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congenital disorder of glycosylation Iaa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Iaa 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  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.