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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: OMIM:608776;   RDO:0001039
 xref: GARD:9839;   ORDO:79328
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:608776
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation
OMIM
ClinVar
PMID:15148656 PMID:15945070 PMID:25741868 PMID:26453364 PMID:26467025 PMID:28492532 PMID:31395617 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation
ClinVar PMID:18157129 PMID:19321599 PMID:23963297 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital disorder of glycosylation 124
        congenital disorder of glycosylation type I 70
          congenital disorder of glycosylation Il 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            carbohydrate metabolic disorder 398
              congenital disorder of glycosylation 124
                congenital disorder of glycosylation type I 70
                  congenital disorder of glycosylation Il 2
paths to the root