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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 1u;   congenital disorder of glycosylation type 1U;   congenital disorder of glycosylation, type Iu
 primary_id: OMIM:615042
 xref: GARD:12416;   ORDO:329178
For additional species annotation, visit the Alliance of Genome Resources.



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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: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,674,577...15,677,393
Ensembl chr 3:15,674,580...15,677,374
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,066,521...16,073,504
Ensembl chr 3:16,066,521...16,073,495
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,658,479...15,675,716
Ensembl chr 3:15,658,539...15,673,762
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19901254 PMID:23109149 More... NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165
JBrowse link
G Eeig1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,823,147...15,854,651
Ensembl chr 3:15,823,144...15,854,643
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,742,337...15,747,672
Ensembl chr 3:15,742,919...15,747,669
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,174,674...16,224,293
Ensembl chr 3:16,174,659...16,224,293
JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase-like 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,690,501...15,697,688
Ensembl chr 3:15,690,501...15,697,688
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,064,867...16,071,098
Ensembl chr 3:16,064,880...16,070,648
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,010,622...16,046,491
Ensembl chr 3:16,010,625...16,046,484
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:15,894,278...15,907,502
Ensembl chr 3:15,885,968...15,907,496
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tor2a torsin family 2, member A ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,048,566...16,053,198
Ensembl chr 3:16,048,549...16,052,634
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar PMID:23109149 PMID:28492532 NCBI chr 3:16,048,484...16,064,598
Ensembl chr 3:16,048,565...16,064,547
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          congenital disorder of glycosylation Iu 23
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2568
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type I 136
                  congenital disorder of glycosylation Iu 23
paths to the root