Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 In
go back to main search page
Accession:DOID:0080566 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: CDG In;   CDG1N;   CDGIn;   congenital disorder of glycosylation 1n;   congenital disorder of glycosylation, type 1N;   congenital disorder of glycosylation, type In
 primary_id: MESH:C567437
 alt_id: OMIM:612015
 xref: GARD:12394;   ORDO:244310


show annotations for term's descendants           Sort by:
congenital disorder of glycosylation In term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas1 5'-aminolevulinate synthase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,876,514...106,889,917
Ensembl chr 8:106,876,514...106,889,917 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350 		JBrowse link
G Glt8d1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229 		JBrowse link
G Glyctk glycerate kinase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,795,461...106,802,675
Ensembl chr 8:106,797,343...106,802,397 		JBrowse link
G Gnl3 G protein nucleolar 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,207,402...6,213,491
Ensembl chr16:6,207,402...6,213,392 		JBrowse link
G Itih1 inter-alpha trypsin inhibitor, heavy chain 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,122,246...6,136,363
Ensembl chr16:6,122,248...6,136,363 		JBrowse link
G Itih3 inter-alpha trypsin inhibitor, heavy chain 3 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,101,922...6,117,154
Ensembl chr16:6,101,930...6,116,924 		JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708 		JBrowse link
G Mirlet7g microRNA let-7g ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,822,293...106,822,380
Ensembl chr 8:106,822,280...106,822,388 		JBrowse link
G Mustn1 musculoskeletal, embryonic nuclear protein 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,072,908...6,075,161
Ensembl chr16:6,072,833...6,075,161 		JBrowse link
G Nek4 NIMA-related kinase 4 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,144,900...6,185,376
Ensembl chr16:6,144,959...6,188,932 		JBrowse link
G Nisch nischarin ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,364,370...6,400,675
Ensembl chr16:6,364,374...6,400,668 		JBrowse link
G Nt5dc2 5'-nucleotidase domain containing 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,322,485...6,330,538
Ensembl chr16:6,322,236...6,330,537 		JBrowse link
G Pbrm1 polybromo 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780 		JBrowse link
G Phf7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,433,535...6,446,314
Ensembl chr16:6,433,537...6,446,911 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089 		JBrowse link
G Ppm1m protein phosphatase, Mg2+/Mn2+ dependent, 1M ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,836,221...106,843,472
Ensembl chr 8:106,837,037...106,842,057 		JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: CDG In | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313027 PMID:19267216 More... NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120 		JBrowse link
G Sema3g semaphorin 3G ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,413,589...6,425,221
Ensembl chr16:6,413,589...6,425,221 		JBrowse link
G Sfmbt1 Scm-like with four mbt domains 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:5,889,046...6,009,860
Ensembl chr16:5,890,782...6,006,605 		JBrowse link
G Spcs1 signal peptidase complex subunit 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,190,208...6,191,776
Ensembl chr16:6,190,262...6,192,000 		JBrowse link
G Stab1 stabilin 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,330,435...6,360,934
Ensembl chr16:6,330,444...6,360,923 		JBrowse link
G Stimate STIM activating enhancer ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,013,392...6,070,829
Ensembl chr16:6,013,369...6,071,816 		JBrowse link
G Tlr9 toll-like receptor 9 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnnc1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,400,801...6,405,634
Ensembl chr16:6,402,171...6,405,634 		JBrowse link
G Twf2 twinfilin actin-binding protein 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,845,253...106,858,298
Ensembl chr 8:106,845,253...106,858,298 		JBrowse link
G Uqcc5 ubiquinol-cytochrome c reductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr16:6,316,631...6,320,471
Ensembl chr16:6,286,300...6,320,642 		JBrowse link
G Wdr82 WD repeat domain 82 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N ClinVar PMID:28492532 NCBI chr 8:106,814,569...106,834,535
Ensembl chr 8:106,814,569...106,834,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital disorder of glycosylation 540
        congenital disorder of glycosylation type I 265
          congenital disorder of glycosylation In 29
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              congenital disorder of glycosylation 540
                congenital disorder of glycosylation type I 265
                  congenital disorder of glycosylation In 29
paths to the root