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DO Term : congenital disorder of glycosylation type IIo [DOID:0070267] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.

synonyms:
616828,
CDG IIo,
OMIM:616828,
CDG2O,
CDG syndrome type IIo,
CDGIIo,
Congenital disorder of glycosylation type 2o,
Carbohydrate deficient glycoprotein syndrome type IIo,
CCDC115-CDG,
ORDO:468684

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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