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DO Term : congenital disorder of glycosylation type IIn [DOID:0070266] 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 SLC39A8 gene on chromosome 4q24.

synonyms:
ORDO:468699,
Congenital disorder of glycosylation type 2n,
CDG IIn,
Carbohydrate deficient glycoprotein syndrome type IIn,
CDG2N,
SLC39A8-CDG,
OMIM:616721,
CDGIIn,
616721,
CDG syndrome type IIn

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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