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DO Term : congenital disorder of glycosylation type IIe [DOID:0070257] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.

synonyms:
MESH:C535754,
608779,
UMLS_CUI:C2931010,
CDG syndrome type IIe,
SNOMEDCT_US_2023_03_01:717773005,
OMIM:608779,
COG7-CDG,
Carbohydrate deficient glycoprotein syndrome type IIe,
CDG2E,
CDG IIe,
CDGIIe,
GARD:9842,
ORDO:79333

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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