Term Name: congenital disorder of glycosylation type IIp
Synonyms: Carbohydrate deficient glycoprotein syndrome type IIp, CDG IIp, CDG syndrome type IIp, CDG2P, CDGIIp, Congenital disorder of glycosylation type 2p, TMEM199-CDG
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.
Ontology: Human Disease [DOID:0070268]   ( DOID:0070268 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type II