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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;   RDO:0001034
 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 Alg12 ALG12, alpha-1,6-mannosyltransferase ISO ClinVar Annotator: match by OMIM:607143
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1G
ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation
OMIM
ClinVar
PMID:11983712, PMID:12093361, PMID:12217961, PMID:12736397, PMID:15639192, PMID:17506107, PMID:19862844, PMID:25019053, PMID:25326635, PMID:25741868, PMID:28492532, PMID:31481313 NCBI chr 7:129,798,663...129,812,677
Ensembl chr 7:129,798,663...129,812,388
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            congenital disorder of glycosylation 122
              congenital disorder of glycosylation type I 68
                congenital disorder of glycosylation Ig 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              congenital disorder of glycosylation 122
                congenital disorder of glycosylation type I 68
                  congenital disorder of glycosylation Ig 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.