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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 the TMEM199 gene 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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | ClinVar Annotator: match by term: TMEM199-CDG		 OMIM
CTD
ClinVar		 PMID:19067230 PMID:25741868 PMID:26639818 PMID:26833330 PMID:28492532 More... NCBI chr10:63,402,493...63,407,065
Ensembl chr10:63,402,494...63,407,108 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital disorder of glycosylation 539
        congenital disorder of glycosylation type II 237
          congenital disorder of glycosylation type IIp 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            carbohydrate metabolic disorder 3265
              congenital disorder of glycosylation 539
                congenital disorder of glycosylation type II 237
                  congenital disorder of glycosylation type IIp 1
paths to the root