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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 		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:25741868 NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital disorder of glycosylation 181
        congenital disorder of glycosylation type I 74
          congenital disorder of glycosylation Ig 2
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            carbohydrate metabolic disorder 459
              congenital disorder of glycosylation 181
                congenital disorder of glycosylation type I 74
                  congenital disorder of glycosylation Ig 2
paths to the root