congenital disorder of glycosylation type IIp

Term ID

DOID:0070268

Synonyms

• Carbohydrate deficient glycoprotein syndrome type IIp
• CDG IIp
• CDG syndrome type IIp
• CDG2P
• CDGIIdp
• 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. https://www.ncbi.nlm.nih.gov/pubmed/26833330

References

• OMIM:616829
• ORDO:466703

Ontology

Human Disease   ( DOID:0070268 )