FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital disorder of glycosylation type IIp ID (Ontology) DOID:0070268 (Human Disease)
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.
Also Known As "Carbohydrate deficient glycoprotein syndrome type IIp" ; "CDG IIp" ; "CDG syndrome type IIp" (for all, see Synonyms field below)
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 Genes
 congenital disorder of glycosylation type IIp       1
 for disease ribbon | congenital disorder of glycosylation type IIp       1
 model of | congenital disorder of glycosylation type IIp       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___________________
congenital disorder of glycosylation              |
 |__congenital disorder of glycosylation type II__|
                                                  congenital disorder of glycosylation type IIp  1 rec.
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Is a congenital disorder of glycosylation type II
autosomal recessive disease
Part of
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Synonyms
  • "Carbohydrate deficient glycoprotein syndrome type IIp" EXACT
    "CDG IIp" EXACT OMO:0003012
    "CDG syndrome type IIp" EXACT
    "CDG2P" EXACT OMO:0003012
    "CDGIIp" EXACT OMO:0003012
    "Congenital disorder of glycosylation type 2p" EXACT
    "TMEM199-CDG" EXACT OMO:0003012
Secondary IDs
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MIM:616829
ORDO:466703