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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 Type IIz
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Accession:DOID:9004511 term browser browse the term
Definition:An autosomal recessive disorder characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities. Caused by homozygous mutation in the CAMLG gene on chromosome 5q23.
Synonyms:exact_synonym: CDG IIz;   CDG2Z;   CDGIIZ
 primary_id: OMIM:620201


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Congenital Disorder of Glycosylation Type IIz term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camlg calcium modulating ligand ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIz OMIM
ClinVar		 PMID:35262690 NCBI chr17:8,992,697...9,003,576
Ensembl chr17:8,992,696...9,003,552 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital disorder of glycosylation 540
        congenital disorder of glycosylation type II 237
          Congenital Disorder of Glycosylation Type IIz 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          inherited metabolic disorder 6257
            carbohydrate metabolic disorder 3309
              congenital disorder of glycosylation 540
                congenital disorder of glycosylation type II 237
                  Congenital Disorder of Glycosylation Type IIz 1
paths to the root