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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 IIp
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Accession:DOID:0070268 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2. (DO)
Synonyms:exact_synonym: CDG IIp;   CDG syndrome type IIp;   CDG2P;   CDGIIdp;   CDGIIp;   TMEM199-CDG;   carbohydrate deficient glycoprotein syndrome type IIp;   congenital disorder of glycosylation type 2P
 primary_id: OMIM:616829
 alt_id: RDO:0016175
 xref: ORDO:466703
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIp term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem199 transmembrane protein 199 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
ClinVar Annotator: match by term: TMEM199-CDG
ClinVar
OMIM
PMID:19067230 PMID:25741868 PMID:26833330 NCBI chr10:65,775,721...65,780,293
Ensembl chr10:65,775,715...65,780,349
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital disorder of glycosylation 127
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIp 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 127
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIp 1
paths to the root