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Metadata
ID DOID:0070264
Name congenital disorder of glycosylation type IIl
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG6 on chromosome 13q14.11.
https://www.ncbi.nlm.nih.gov/pubmed/20605848
Xrefs

GARD:10944

OMIM:614576

ORDO:464443

Synonyms

CDG IIl [EXACT]

CDG syndrome type IIL [EXACT]

CDG2L [EXACT]

CDGIIdl [EXACT]

COG6-CGD [EXACT]

Congenital disorder of glycosylation type 2l [EXACT]

Parent Relationships

is_a congenital disorder of glycosylation type II

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