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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 It
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Accession:DOID:0080570 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: CDG It;   CDG1T;   CDGIt;   GSD XIV;   GSD14;   Glycogen Storage Disease XIV;   PGM1 Deficiency;   congenital disorder of glycosylation 1t;   congenital disorder of glycosylation type 1T;   congenital disorder of glycosylation, type IT;   phosphoglucomutase 1 deficiency
 primary_id: MESH:C567859
 alt_id: OMIM:614921
 xref: ORDO:319646
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation It term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgm1 phosphoglucomutase 1 ISO ClinVar Annotator: match by OMIM:614921
ClinVar Annotator: match by term: CDG It
ClinVar Annotator: match by term: Glycogen storage disease XIV
ClinVar Annotator: match by term: GSD XIV
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t
ClinVar
OMIM
PMID:19625727, PMID:22492991, PMID:24499211, PMID:25288802, PMID:25741868, PMID:26768186, PMID:27206562, PMID:28492532 NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            congenital disorder of glycosylation 122
              congenital disorder of glycosylation type I 68
                congenital disorder of glycosylation It 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              congenital disorder of glycosylation 122
                congenital disorder of glycosylation type I 68
                  congenital disorder of glycosylation It 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.