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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 16017
    Nutritional and Metabolic Diseases 4634
      disease of metabolism 4634
        inherited metabolic disorder 2177
          carbohydrate metabolic disorder 384
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type II 47
                congenital disorder of glycosylation type IIo 1
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          inherited metabolic disorder 2177
            carbohydrate metabolic disorder 384
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type II 47
                  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.