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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 type IIb
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Accession:DOID:0070254 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. (DO)
Synonyms:exact_synonym: CDG IIB;   CDG2B;   CDGIIB;   congenital disorder of glycosylation type 2B;   glucosidase I deficiency
 primary_id: MESH:C565264
 alt_id: MIM:606056
 xref: GARD:10767;   ORDO:79330


show annotations for term's descendants           Sort by:
congenital disorder of glycosylation type IIb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,579,513...117,604,379
Ensembl chr 4:117,579,514...117,604,295 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Aup1 AUP1, lipid droplet regulating VLDL assembly factor ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,118,035...117,121,063
Ensembl chr 4:117,117,999...117,121,061 		JBrowse link
G Bola3 bolA family member 3 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,411,044...117,420,491
Ensembl chr 4:117,410,680...117,420,491 		JBrowse link
G C1h2orf78 similar to human chromosome 2 open reading frame 78 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 1:101,883,237...101,889,764
Ensembl chr 1:101,883,207...101,889,771 		JBrowse link
G C4h2orf81 similar to human chromosome 2 open reading frame 81 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,219,357...117,225,633 JBrowse link
G Ccdc142 coiled-coil domain containing 142 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,164,055...117,172,286
Ensembl chr 4:117,166,135...117,173,935 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,546,730...119,563,973
Ensembl chr 4:119,546,730...119,563,973 		JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:118,599,356...118,616,176 		JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,228,722...117,261,528
Ensembl chr 4:117,219,349...117,261,528 		JBrowse link
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,544,784...117,572,414
Ensembl chr 4:117,544,773...117,572,414 		JBrowse link
G Dok1 docking protein 1 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,095,171...117,098,251
Ensembl chr 4:117,095,175...117,097,825 		JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,121,216...117,130,315
Ensembl chr 4:117,121,452...117,130,307 		JBrowse link
G Dusp11 dual specificity phosphatase 11 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,928,533...119,942,643
Ensembl chr 4:119,928,537...119,942,567 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,605,358...119,607,817
Ensembl chr 4:119,605,357...119,608,368 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,282,692...119,300,822
Ensembl chr 4:119,282,692...119,300,817 		JBrowse link
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:118,652,279...119,107,725
Ensembl chr 4:118,652,279...119,107,683 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,565,012...119,597,042
Ensembl chr 4:119,565,012...119,597,038 		JBrowse link
G Htra2 HtrA serine peptidase 2 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,114,631...117,117,793
Ensembl chr 4:117,114,633...117,117,793 		JBrowse link
G Ino80b INO80 complex subunit B ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,185,427...117,188,930
Ensembl chr 4:117,185,620...117,189,168 		JBrowse link
G Lbx2 ladybird homeobox 2 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,149,690...117,151,575
Ensembl chr 4:117,149,690...117,151,575 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,098,358...117,114,673
Ensembl chr 4:117,099,635...117,115,046 		JBrowse link
G Mob1a MOB kinase activator 1A ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,389,278...117,406,255
Ensembl chr 4:117,389,186...117,406,250 		JBrowse link
G Mogs mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by term: CDG IIb | ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10788335 PMID:12145188 PMID:16199547 PMID:24716661 PMID:25531304 More... NCBI chr 4:117,179,335...117,182,738
Ensembl chr 4:117,179,335...117,182,744 		JBrowse link
G Mrpl53 mitochondrial ribosomal protein L53 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,173,043...117,173,933 JBrowse link
G Mthfd2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,368,833...117,380,350
Ensembl chr 4:117,368,835...117,380,350 		JBrowse link
G Nat8 N-acetyltransferase 8 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,836,986...119,837,764
Ensembl chr 4:119,835,645...119,843,159 		JBrowse link
G Nat8b N-acetyltransferase 8B ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,916,909...119,923,544
Ensembl chr 4:119,915,525...119,921,887 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,518,663...119,522,902
Ensembl chr 4:119,518,514...119,523,799 		JBrowse link
G Pcgf1 polycomb group ring finger 1 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,140,144...117,144,729
Ensembl chr 4:117,142,061...117,145,040 		JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,542,239...119,546,536
Ensembl chr 4:119,541,605...119,547,331 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,428,766...119,466,277
Ensembl chr 4:119,428,766...119,466,213 		JBrowse link
G Rtkn rhotekin ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,198,496...117,215,660
Ensembl chr 4:117,198,647...117,215,660 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,307,692...119,427,531
Ensembl chr 4:119,308,386...119,427,259 		JBrowse link
G Slc4a5 solute carrier family 4 member 5 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,267,803...117,368,024
Ensembl chr 4:117,267,822...117,368,024 		JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,527,115...119,541,580
Ensembl chr 4:119,527,113...119,541,838 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,229,447...119,233,320
Ensembl chr 4:119,229,447...119,233,179 		JBrowse link
G Stambp Stam binding protein ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,613,730...117,642,163
Ensembl chr 4:117,613,740...117,638,220 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,425,106...117,525,495
Ensembl chr 4:117,429,857...117,520,486 		JBrowse link
G Tlx2 T-cell leukemia homeobox 2 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,131,516...117,133,359
Ensembl chr 4:117,131,516...117,133,359 		JBrowse link
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:119,900,484...119,915,382 		JBrowse link
G Wbp1 WW domain binding protein 1 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,182,880...117,185,279
Ensembl chr 4:117,182,880...117,185,326 		JBrowse link
G Wdr54 WD repeat domain 54 ISO ClinVar Annotator: match by term: GLUCOSIDASE I DEFICIENCY ClinVar PMID:24716661 PMID:25531304 PMID:26805780 PMID:27208207 PMID:27696117 More... NCBI chr 4:117,212,677...117,236,456
Ensembl chr 4:117,212,677...117,219,270 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital disorder of glycosylation 585
        congenital disorder of glycosylation type II 242
          congenital disorder of glycosylation type IIb 43
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              congenital disorder of glycosylation 585
                congenital disorder of glycosylation type II 242
                  congenital disorder of glycosylation type IIb 43
paths to the root