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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 Ig
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Accession:DOID:0080559 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. (DO)
Synonyms:exact_synonym: ALG12-congenital disorder of glycosylation;   CDG Ig;   CDG1G;   CDGIg;   congenital disorder of glycosylation 1g;   congenital disorder of glycosylation type 1G;   congenital disorder of glycosylation, type IG
 primary_id: MESH:C535745
 alt_id: OMIM:607143
 xref: GARD:9833;   NCI:C126873;   ORDO:79324
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation Ig term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331
JBrowse link
G Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation OMIM
ClinVar
PMID:9536098 PMID:11983712 PMID:12093361 PMID:12217961 PMID:12736397 More... NCBI chr 7:119,895,112...119,909,488
Ensembl chr 7:119,895,120...119,909,458
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:23472171 PMID:25741868 PMID:32979048 NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Brd1 bromodomain containing 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 7:119,774,187...119,822,031
Ensembl chr 7:119,774,188...119,822,031
JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
JBrowse link
G Creld2 cysteine-rich with EGF-like domains 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:119,909,626...119,916,556
Ensembl chr 7:119,909,633...119,916,543
JBrowse link
G Dennd6b DENN domain containing 6B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,261,679...120,273,667
Ensembl chr 7:120,261,679...120,273,494
JBrowse link
G Hdac10 histone deacetylase 10 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,199,126...120,205,850
Ensembl chr 7:120,199,129...120,204,228
JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737
JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
JBrowse link
G Mapk11 mitogen-activated protein kinase 11 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,218,471...120,225,488
Ensembl chr 7:120,218,478...120,225,395
JBrowse link
G Mapk12 mitogen-activated protein kinase 12 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,206,005...120,216,711
Ensembl chr 7:120,206,271...120,216,664
JBrowse link
G Mapk8ip2 mitogen-activated protein kinase 8 interacting protein 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,526,732...120,536,982
Ensembl chr 7:120,526,732...120,536,982
JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
G Mov10l1 Mov10 like RISC complex RNA helicase 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,070,171...120,135,406
Ensembl chr 7:120,070,135...120,134,765
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
JBrowse link
G Panx2 pannexin 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
JBrowse link
G Pim3 Pim-3 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:119,953,377...119,956,587
Ensembl chr 7:119,953,175...119,956,587
JBrowse link
G Plxnb2 plexin B2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,232,276...120,258,385
Ensembl chr 7:120,232,331...120,258,330
JBrowse link
G Ppp6r2 protein phosphatase 6, regulatory subunit 2 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,285,378...120,356,995
Ensembl chr 7:120,285,406...120,356,395
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
JBrowse link
G Selenoo selenoprotein O ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,167,913...120,178,806
Ensembl chr 7:120,167,913...120,178,805
JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
JBrowse link
G Trabd TraB domain containing ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,155,042...120,166,015
Ensembl chr 7:120,155,042...120,166,015
JBrowse link
G Ttll8 tubulin tyrosine ligase like 8 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,000,638...120,046,556
Ensembl chr 7:120,001,794...120,045,075
JBrowse link
G Tubgcp6 tubulin, gamma complex associated protein 6 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:15639192 PMID:28492532 PMID:31481313 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Zbed4 zinc finger, BED-type containing 4 ISO ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chr 7:119,846,374...119,883,495
Ensembl chr 7:119,843,169...119,883,899
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          congenital disorder of glycosylation Ig 32
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            carbohydrate metabolic disorder 2559
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type I 136
                  congenital disorder of glycosylation Ig 32
paths to the root