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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 Ij
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Accession:DOID:0080562 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. (DO)
Synonyms:exact_synonym: CDG Ij;   CDG1J;   CDGIj;   congenital disorder of glycosylation 1j;   congenital disorder of glycosylation type 1J;   congenital disorder of glycosylation, type IJ
 primary_id: MESH:C535748
 alt_id: OMIM:608093;   RDO:0001037
 xref: GARD:9837;   NCI:C126874;   ORDO:86309
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
congenital disorder of glycosylation Ij term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,604,915...48,626,219
Ensembl chr 8:48,606,403...48,619,592 		JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,641,792...48,652,119
Ensembl chr 8:48,641,801...48,652,071 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722 		JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,570,718...48,577,856
Ensembl chr 8:48,569,328...48,577,855 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J
ClinVar Annotator: match by OMIM:608093		 OMIM
ClinVar		 PMID:12872255 PMID:18414213 PMID:22304930 PMID:22492991 PMID:22742743 PMID:23249953 PMID:24759841 PMID:25326635 PMID:25500013 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28662078 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,626,398...48,638,012
Ensembl chr 8:48,628,340...48,634,797 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,583,559...48,600,203
Ensembl chr 8:48,584,071...48,597,867 		JBrowse link
G Pdzd3 PDZ domain containing 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J ClinVar PMID:28492532 NCBI chr 8:48,577,905...48,582,353
Ensembl chr 8:48,577,952...48,582,353 		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 Ij 9
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 Ij 9
paths to the root