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DO Term : congenital disorder of glycosylation type IIf [DOID:0070258] 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 SLC35A1 gene on chromosome 6q15.

synonyms:
CMP-sialic acid transporter deficiency,
OMIM:603585,
MESH:C567040,
SNOMEDCT_US_2023_03_01:723624008,
CDGIIf,
CDG IIf,
UMLS_CUI:C1970344,
CDG2F,
ORDO:238459,
GARD:12409,
603585,
SLC35A1-CDG,
Carbohydrate deficient glycoprotein syndrome type IIf

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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