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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 Ii
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Accession:DOID:0080561 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: CDG Ii;   CDG1I;   CDGIi;   congenital disorder of glycosylation 1i;   congenital disorder of glycosylation type 1I;   congenital disorder of glycosylation type Ii;   congenital disorders of glycosylation type Ii
 primary_id: MESH:C535747
 alt_id: OMIM:607906
 xref: GARD:9836;   ORDO:79326


show annotations for term's descendants           Sort by:
congenital disorder of glycosylation Ii term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type II
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I		 ClinVar
OMIM		 PMID:12684507 PMID:20813212 PMID:25741868 PMID:28492532 PMID:30061496 More... NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		JBrowse link
G ANP32B acidic nuclear phosphoprotein 32 family member B IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,983,341...98,015,943
Ensembl chr 9:97,983,341...98,015,943 		JBrowse link
G CCDC115 coiled-coil domain containing 115 IAGP ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:24033266 PMID:25741868 PMID:26833332 PMID:28492532 PMID:29759592 More... NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699 		JBrowse link
G COL15A1 collagen type XV alpha 1 chain IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,943,907...99,070,787
Ensembl chr 9:98,943,179...99,070,787 		JBrowse link
G CORO2A coronin 2A IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,120,975...98,192,637
Ensembl chr 9:98,120,975...98,192,637 		JBrowse link
G ERP44 endoplasmic reticulum protein 44 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:99,979,185...100,099,000
Ensembl chr 9:99,979,185...100,099,052 		JBrowse link
G FOXE1 forkhead box E1 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,807,670...98,850,081
Ensembl chr 9:98,807,670...98,850,081 		JBrowse link
G HEMGN hemogen IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,926,791...97,944,852
Ensembl chr 9:97,926,791...97,944,856 		JBrowse link
G INVS inversin IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G LOC129934769 ATAC-STARR-seq lymphoblastoid active region 16526 IAGP ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:26833332
G NANS N-acetylneuraminate synthase IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077 		JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,633,821...97,673,748
Ensembl chr 9:97,633,668...97,673,748 		JBrowse link
G NR4A3 nuclear receptor subfamily 4 group A member 3 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:99,821,885...99,866,891
Ensembl chr 9:99,821,855...99,866,891 		JBrowse link
G SEC61B SEC61 translocon subunit beta IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:99,222,282...99,230,615
Ensembl chr 9:99,222,064...99,230,615 		JBrowse link
G STX17 syntaxin 17 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:99,906,654...99,974,534
Ensembl chr 9:99,906,654...99,974,534 		JBrowse link
G TBC1D2 TBC1 domain family member 2 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,198,998...98,255,649
Ensembl chr 9:98,199,011...98,255,649 		JBrowse link
G TDRD7 tudor domain containing 7 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,412,096...97,496,125
Ensembl chr 9:97,412,096...97,496,125 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TMEM199 transmembrane protein 199 IAGP ClinVar Annotator: match by term: Congenital disorders of glycosylation type II ClinVar PMID:25741868 PMID:26833330 PMID:28492532 PMID:29321044 NCBI chr17:28,357,647...28,363,683
Ensembl chr17:28,357,642...28,363,683 		JBrowse link
G TMOD1 tropomodulin 1 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,501,180...97,601,743
Ensembl chr 9:97,501,180...97,601,743 		JBrowse link
G TRIM14 tripartite motif containing 14 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:98,035,797...98,119,222
Ensembl chr 9:98,069,275...98,119,222 		JBrowse link
G TRMO tRNA methyltransferase O IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,896,855...97,922,500
Ensembl chr 9:97,904,489...97,922,500 		JBrowse link
G TSTD2 thiosulfate sulfurtransferase like domain containing 2 IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,600,080...97,633,368
Ensembl chr 9:97,600,080...97,633,368 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I ClinVar PMID:20813212 PMID:28492532 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital disorder of glycosylation 719
        congenital disorder of glycosylation type I 382
          congenital disorder of glycosylation Ii 27
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          inherited metabolic disorder 7856
            carbohydrate metabolic disorder 3612
              congenital disorder of glycosylation 719
                congenital disorder of glycosylation type I 382
                  congenital disorder of glycosylation Ii 27
paths to the root