ONTOLOGY REPORT - ANNOTATIONS


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
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congenital disorder of glycosylation type IIp term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem199 transmembrane protein 199 JBrowse link 10 65,775,721 65,780,293 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          carbohydrate metabolic disorder 302
            congenital disorder of glycosylation 83
              congenital disorder of glycosylation type II 37
                congenital disorder of glycosylation type IIp 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              congenital disorder of glycosylation 83
                congenital disorder of glycosylation type II 37
                  congenital disorder of glycosylation type IIp 1
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