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Metadata
ID DOID:0070259
Name congenital disorder of glycosylation type IIg
Definition A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1.
https://www.ncbi.nlm.nih.gov/pubmed/16537452
Xrefs

GARD:10226

MESH:C535756

MIM:611209

ORDO:263508

SNOMEDCT_US_2023_03_01:718750004

UMLS_CUI:C2931011

Subsets

DO_rare_slim

Synonyms

Carbohydrate deficient glycoprotein syndrome type IIg [EXACT]

CDG IIg [EXACT]

CDG2G [EXACT]

CDGII/COG1 cerebrocostomandibular-like syndrome [EXACT]

CDGIIg [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type II

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