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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 Iu
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Accession:DOID:0080571 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: CDG IU;   CDG1U;   CDGIU;   Congenital Disorder of Glycosylation Type 1U;   Congenital Disorder of Glycosylation, Type Iu;   congenital disorder of glycosylation 1u
 primary_id: OMIM:615042
 alt_id: RDO:9000250
 xref: GARD:12416;   ORDO:329178
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
congenital disorder of glycosylation Iu term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,652,143...11,659,135 JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113 		JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180 		JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar Annotator: match by OMIM:615042		 OMIM
ClinVar		 PMID:18414213 PMID:19901254 PMID:23109149 PMID:25741868 PMID:28492532 NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528 		JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485 		JBrowse link
G Fam102a family with sequence similarity 102, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303 		JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327 		JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570 		JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744 		JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,921,715...11,971,327
Ensembl chr 3:11,921,715...11,971,327 		JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410 		JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402 		JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640 		JBrowse link
G RGD1561113 similar to Hypothetical UPF0184 protein C9orf16 homolog ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732 		JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593 		JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529 		JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593 		JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417 		JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693 		JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:28492532 NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901 		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 Iu 23
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 Iu 23
paths to the root