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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital disorder of glycosylation 125
        congenital disorder of glycosylation type I 71
          congenital disorder of glycosylation Ib 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 125
                congenital disorder of glycosylation type I 71
                  congenital disorder of glycosylation Ib 1
paths to the root