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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 Ip
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Accession:DOID:0080567 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. (DO)
Synonyms:exact_synonym: CDG1P;   congenital disorder of glycosylation 1p;   congenital disorder of glycosylation, type 1P;   congenital disorder of glycosylation, type Ip
 primary_id: OMIM:613661
 xref: GARD:12396;   ORDO:280071


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congenital disorder of glycosylation Ip term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P OMIM
ClinVar		 PMID:10441329 PMID:16283883 PMID:20080937 PMID:22213132 PMID:25741868 More... NCBI chr11:15,851,352...15,876,452
Ensembl chr11:15,857,367...15,876,405 		JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P ClinVar PMID:10441329 PMID:16283883 PMID:25741868 PMID:28492532 PMID:30676690 NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    physical disorder 4824
      congenital disorder of glycosylation 531
        congenital disorder of glycosylation type I 262
          congenital disorder of glycosylation Ip 2
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          inherited metabolic disorder 5434
            carbohydrate metabolic disorder 2679
              congenital disorder of glycosylation 531
                congenital disorder of glycosylation type I 262
                  congenital disorder of glycosylation Ip 2
paths to the root