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 ) |