DISEASES

Disease-gene associations mined from literature

Human genes for congenital disorder of glycosylation type IIp

Congenital disorder of glycosylation type IIp [DOID:0070268]

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2.

Synonyms:  congenital disorder of glycosylation type IIp,  DOID:0070268,  congenital disorder of glycosylation type IIps,  CDG IIp,  CDG syndrome type IIp ...