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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;   PGM1 deficiency;   congenital disorder of glycosylation 1t;   congenital disorder of glycosylation type 1T;   congenital disorder of glycosylation, type IT;   glycogen storage disease XIV;   phosphoglucomutase 1 deficiency
 primary_id: MESH:C567859
 alt_id: OMIM:614921
 xref: ORDO:319646


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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 LOC129930668 ATAC-STARR-seq lymphoblastoid active region 1127 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t
ClinVar Annotator: match by term: Glycogen storage disease XIV
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV		 ClinVar PMID:22492991 PMID:24499211 PMID:25288802 PMID:25741868 PMID:26768186 More...
G LOC129930669 ATAC-STARR-seq lymphoblastoid silent region 951 IAGP ClinVar Annotator: match by term: Glycogen storage disease XIV
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV		 ClinVar PMID:9536098 PMID:17576681 PMID:28492532
G PGM1 phosphoglucomutase 1 IAGP
EXP		 ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t | ClinVar Annotator: match by term: Glycogen storage disease XIV
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19625727 PMID:22492991 More... NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital disorder of glycosylation 719
        congenital disorder of glycosylation type I 382
          congenital disorder of glycosylation It 3
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          inherited metabolic disorder 7856
            carbohydrate metabolic disorder 3612
              congenital disorder of glycosylation 719
                congenital disorder of glycosylation type I 382
                  congenital disorder of glycosylation It 3
paths to the root