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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Im
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Accession:DOID:0080565 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. (DO)
Synonyms:exact_synonym: CDG Im;   CDG1m;   CDGIm;   Congenital Disorder of Glycosylation Type 1M;   DK1 DEFICIENCY;   DOLK-congenital disorder of glycosylation;   congenital disorder of glycosylation 1m;   congenital disorder of glycosylation, type Im;   dolichol kinase deficiency
 primary_id: MESH:C563666
 alt_id: OMIM:610768;   RDO:0012864
 xref: GARD:12393;   ORDO:91131
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congenital disorder of glycosylation Im term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dolk dolichol kinase JBrowse link 3 8,850,154 8,852,192 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15620
    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 Im 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Im 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.