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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IIo
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Accession:DOID:0070267 term browser browse the term
Definition:An autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. (OMIM)
Synonyms:exact_synonym: CCDC115-CDG;   CDG IIo;   CDG syndrome type IIo;   CDG2O;   CDGIIdo;   CDGIIo;   carbohydrate deficient glycoprotein syndrome type IIo;   congenital disorder of glycosylation type 2O
 primary_id: OMIM:616828
 alt_id: RDO:9001167
 xref: ORDO:468684
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congenital disorder of glycosylation type IIo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc115 coiled-coil domain containing 115 JBrowse link 9 37,774,876 37,778,839 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
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 II 38
                congenital disorder of glycosylation type IIo 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 II 38
                  congenital disorder of glycosylation type IIo 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.