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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 Ir
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Accession:DOID:0080569 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CDG1R;   DDOST-congenital disorder of glycosylation;   congenital disorder of glycosylation 1R;   congenital disorder of glycosylation type 1R;   congenital disorder of glycosylation, type Ir
 primary_id: MIM:614507
 xref: GARD:12398;   MONDO:0013789;   ORDO:300536

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congenital disorder of glycosylation Ir term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr7a2 aldo-keto reductase family 7 member A2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:6,844...13,868 JBrowse link
G Aldh4a1 aldehyde dehydrogenase 4 family member A1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955527:338,593...369,528
Ensembl chrNW_004955527:338,593...372,872 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,820,212...1,873,877
Ensembl chrNW_004955452:1,820,174...1,874,226 		JBrowse link
G C1qa complement C1q A chain ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,753,362...2,756,220
Ensembl chrNW_004955452:2,752,970...2,756,488 		JBrowse link
G C1qb complement C1q B chain ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,765,844...2,771,695
Ensembl chrNW_004955452:2,769,752...2,772,534 		JBrowse link
G C1qc complement C1q C chain ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,759,079...2,762,522
Ensembl chrNW_004955452:2,758,821...2,762,522 		JBrowse link
G Camk2n1 calcium/calmodulin dependent protein kinase II inhibitor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,044,696...1,046,657
Ensembl chrNW_004955452:1,043,459...1,046,669 		JBrowse link
G Capzb capping actin protein of muscle Z-line subunit beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:34,454...168,514
Ensembl chrNW_004955452:30,589...169,693 		JBrowse link
G Cda cytidine deaminase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,131,968...1,156,777
Ensembl chrNW_004955452:1,132,049...1,156,565 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042 		JBrowse link
G Cela3b chymotrypsin like elastase 3B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,190,177...2,194,453 JBrowse link
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar Annotator: match by term: DDOST-congenital disorder of glycosylation OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22305527 PMID:25741868 More... NCBI chrNW_004955452:1,186,733...1,195,691
Ensembl chrNW_004955452:1,186,733...1,240,087 		JBrowse link
G Ece1 endothelin converting enzyme 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,653,783...1,704,619
Ensembl chrNW_004955452:1,651,316...1,751,489 		JBrowse link
G Eif4g3 eukaryotic translation initiation factor 4 gamma 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,328,103...1,625,341
Ensembl chrNW_004955452:1,328,345...1,625,934 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955527:19,069...45,951
Ensembl chrNW_004955527:19,069...45,951 		JBrowse link
G Epha8 EPH receptor A8 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,702,277...2,729,161
Ensembl chrNW_004955452:2,701,803...2,729,277 		JBrowse link
G Fam43b family with sequence similarity 43 member B ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,102,342...1,104,346
Ensembl chrNW_004955452:1,102,362...1,103,383 		JBrowse link
G Hp1bp3 heterochromatin protein 1 binding protein 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,271,133...1,308,167
Ensembl chrNW_004955452:1,270,658...1,308,167 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,056,428...2,141,937
Ensembl chrNW_004955452:2,057,326...2,120,280 		JBrowse link
G Htr6 5-hydroxytryptamine receptor 6 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:323,641...338,312 JBrowse link
G Iffo2 intermediate filament family orphan 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955527:294,950...332,716
Ensembl chrNW_004955527:294,488...333,823 		JBrowse link
G Kif17 kinesin family member 17 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,197,839...1,239,209 JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,031,868...2,057,264 JBrowse link
G Micos10 mitochondrial contact site and cristae organizing system subunit 10 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:248,892...289,711
Ensembl chrNW_004955452:248,974...289,480 		JBrowse link
G Mrto4 MRT4 homolog, ribosome maturation factor ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955527:12,547...18,906
Ensembl chrNW_004955527:12,547...18,906 		JBrowse link
G Mul1 mitochondrial E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,059,168...1,066,096
Ensembl chrNW_004955452:1,058,930...1,066,096 		JBrowse link
G Nbl1 NBL1, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:316,867...319,883
Ensembl chrNW_004955452:308,573...319,989 		JBrowse link
G Otud3 OTU deubiquitinase 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:488,295...516,162
Ensembl chrNW_004955452:487,994...516,217 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar Annotator: match by term: DDOST-congenital disorder of glycosylation ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955452:1,171,115...1,186,338
Ensembl chrNW_004955452:1,171,205...1,185,125 		JBrowse link
G Pla2g2c phospholipase A2 group IIC ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:771,031...783,323
Ensembl chrNW_004955452:770,952...783,375 		JBrowse link
G Pla2g2d phospholipase A2 group IID ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:738,133...743,718
Ensembl chrNW_004955452:736,600...743,806 		JBrowse link
G Pla2g2e phospholipase A2 group IIE ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:522,314...526,095
Ensembl chrNW_004955452:520,361...525,846 		JBrowse link
G Pla2g2f phospholipase A2 group IIF ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:755,738...765,304
Ensembl chrNW_004955452:755,478...763,571 		JBrowse link
G Pla2g5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:662,281...721,507
Ensembl chrNW_004955452:710,271...723,142 		JBrowse link
G Rap1gap RAP1 GTPase activating protein ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,886,557...1,950,942
Ensembl chrNW_004955452:1,886,557...1,933,977 		JBrowse link
G Rnf186 ring finger protein 186 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:433,413...450,261 JBrowse link
G Sh2d5 SH2 domain containing 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,240,621...1,252,088
Ensembl chrNW_004955452:1,240,148...1,248,569 		JBrowse link
G Slc66a1 solute carrier family 66 member 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:17,459...22,259
Ensembl chrNW_004955452:16,770...26,189 		JBrowse link
G Tmco4 transmembrane and coiled-coil domains 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:338,779...425,901
Ensembl chrNW_004955452:338,779...414,201 		JBrowse link
G Ubr4 ubiquitin protein ligase E3 component n-recognin 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955527:57,335...185,727
Ensembl chrNW_004955527:57,335...185,727 		JBrowse link
G Ubxn10 UBX domain protein 10 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:790,950...799,378
Ensembl chrNW_004955452:790,950...799,378 		JBrowse link
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:1,959,396...2,031,829
Ensembl chrNW_004955452:1,959,396...2,031,829 		JBrowse link
G Vwa5b1 von Willebrand factor A domain containing 5B1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:874,819...938,134
Ensembl chrNW_004955452:882,051...938,333 		JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989 		JBrowse link
G Zbtb40 zinc finger and BTB domain containing 40 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:28492532 NCBI chrNW_004955452:2,597,020...2,672,496
Ensembl chrNW_004955452:2,632,597...2,672,610 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    physical disorder 4831
      congenital disorder of glycosylation 563
        congenital disorder of glycosylation type I 294
          congenital disorder of glycosylation Ir 45
Path 2
Term Annotations click to browse term
  disease 14337
    Developmental Disease 12609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11872
        genetic disease 11601
          inherited metabolic disorder 5529
            carbohydrate metabolic disorder 2665
              congenital disorder of glycosylation 563
                congenital disorder of glycosylation type I 294
                  congenital disorder of glycosylation Ir 45
paths to the root