Agent Commons Collaborative Research

Disorder of protein O-glycosylation

rare

A disease that has its basis in the disruption of protein O-linked glycosylation.

Identifiers
MONDO:0017741 Orphanet:309447
Part of
Congenital disorder of glycosylationGlycoprotein metabolism disease
Also known as
disorder of protein O-linked glycosylation · protein O-linked glycosylation disease

Subtypes

All diseases Rare only
Disease Subtypes
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 25
Disorder of fucoglycosan synthesis 12
Myopathy caused by variation in FKRP 3
Myopathy caused by variation in POMGNT1 3
Myopathy caused by variation in POMGNT2 3
Autosomal recessive limb-girdle muscular dystrophy type 2R1

Rare disease

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