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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 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
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIo term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
ClinVar Annotator: match by term: CCDC115-CDG
ClinVar
OMIM
PMID:25326637 PMID:26833332 NCBI chr 9:37,774,876...37,778,839
Ensembl chr 9:37,775,311...37,779,967
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital disorder of glycosylation 124
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIo 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            carbohydrate metabolic disorder 398
              congenital disorder of glycosylation 124
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIo 1
paths to the root