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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 Ib
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Accession:DOID:0080554 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. (DO)
Synonyms:exact_synonym: CDG Ib;   CDG, GASTROINTESTINAL TYPE;   CDG1B;   CDGIb;   CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib;   Congenital Disorder of Glycosylation Type 1B;   MPI DEFICIENCY;   Mannosephosphate isomerase deficiency;   Protein-losing enteropathy-hepatic fibrosis syndrome;   SLSJ syndrome;   Saguenay-Lac Saint-Jean syndrome;   carbohydrate-deficient glycoprotein syndrome type 1B;   congenital disorder of glycosylation 1b
 primary_id: MESH:C535740
 alt_id: OMIM:602579;   RDO:0001029
 xref: GARD:9830;   ORDO:79319
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation Ib term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpi mannose phosphate isomerase ISO ClinVar Annotator: match by OMIM:602579
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B
ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome
OMIM
ClinVar
PMID:3080572, PMID:9525984, PMID:9585601, PMID:10484808, PMID:10980531, PMID:11350186, PMID:12414827, PMID:18928705, PMID:19862844, PMID:24033266, PMID:24421398, PMID:24508628, PMID:25741868, PMID:26206375, PMID:28492532, PMID:28928705, PMID:30545931 NCBI chr 8:62,324,176...62,332,080
Ensembl chr 8:62,324,092...62,332,115
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        inherited metabolic disorder 2238
          carbohydrate metabolic disorder 393
            congenital disorder of glycosylation 122
              congenital disorder of glycosylation type I 68
                congenital disorder of glycosylation Ib 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          inherited metabolic disorder 2238
            carbohydrate metabolic disorder 393
              congenital disorder of glycosylation 122
                congenital disorder of glycosylation type I 68
                  congenital disorder of glycosylation Ib 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.