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DO Term : congenital disorder of glycosylation type IIh [DOID:0070260] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.

synonyms:
GARD:12411,
Carbohydrate deficient glycoprotein syndrome type IIh,
SNOMEDCT_US_2023_03_01:717774004,
ORDO:95428,
CDG IIh,
UMLS_CUI:C1970021,
CDG2H,
COG8-CDG,
CDGIIh,
OMIM:611182,
611182,
Congenital disorder of glycosylation type 2h,
MESH:C566987

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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