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Metadata
ID DOID:0070268
Name congenital disorder of glycosylation type IIp
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2.
https://www.ncbi.nlm.nih.gov/pubmed/26833330
Xrefs

OMIM:616829

ORDO:466703

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIp [EXACT]

CDG IIp [EXACT]

CDG syndrome type IIp [EXACT]

CDG2P [EXACT]

CDGIIdp [EXACT]

Congenital disorder of glycosylation type 2p [EXACT]

TMEM199-CDG [EXACT]

Parent Relationships

is_a congenital disorder of glycosylation type II

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