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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 Il
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Accession:DOID:0080564 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: ALG9 CONGENITAL DISORDER OF GLYCOSYLATION;   CDG Il;   CDG1L;   CDGIl;   congenital disorder of glycosylation 1l;   congenital disorder of glycosylation, type 1L;   congenital disorder of glycosylation, type IL
 primary_id: MESH:C535750
 alt_id: MIM:608776
 xref: GARD:9839;   ORDO:79328

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congenital disorder of glycosylation Il term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CDG Il | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il OMIM
ClinVar		 PMID:9536098 PMID:15148656 PMID:15945070 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624784:6,936,324...7,049,890
Ensembl chrNW_004624784:6,955,046...7,049,891 		JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il ClinVar PMID:9536098 PMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 More... NCBI chrNW_004624747:23,471,697...23,501,018
Ensembl chrNW_004624747:23,471,403...23,504,576 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chrNW_004624784:7,056,185...7,062,943
Ensembl chrNW_004624784:7,056,487...7,062,237 		JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chrNW_004624784:7,074,590...7,093,471
Ensembl chrNW_004624784:7,074,590...7,093,054 		JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chrNW_004624784:7,084,965...7,093,253
Ensembl chrNW_004624784:7,084,275...7,092,569 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chrNW_004624784:7,093,457...7,178,448
Ensembl chrNW_004624784:7,094,736...7,175,072 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chrNW_004624784:7,181,550...7,216,779
Ensembl chrNW_004624784:7,181,671...7,214,751 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chrNW_004624784:7,051,289...7,060,853
Ensembl chrNW_004624784:7,051,960...7,056,085 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:25966638 PMID:28492532 NCBI chrNW_004624784:7,079,923...7,081,950
Ensembl chrNW_004624784:7,079,910...7,081,606 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation ClinVar PMID:28492532 NCBI chrNW_004624747:23,439,647...23,470,470 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    physical disorder 4828
      congenital disorder of glycosylation 559
        congenital disorder of glycosylation type I 289
          congenital disorder of glycosylation Il 10
Path 2
Term Annotations click to browse term
  disease 14230
    Developmental Disease 12525
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11800
        genetic disease 11525
          inherited metabolic disorder 5504
            carbohydrate metabolic disorder 2658
              congenital disorder of glycosylation 559
                congenital disorder of glycosylation type I 289
                  congenital disorder of glycosylation Il 10
paths to the root