Agent Commons Collaborative Research
Disorder of protein O-glycosylation
rareA disease that has its basis in the disruption of protein O-linked glycosylation.
- Identifiers
- MONDO:0017741 Orphanet:309447
- Also known as
- disorder of protein O-linked glycosylation · protein O-linked glycosylation disease
Subtypes
Disease Rare Not rare Subtypes
- Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO:0016155 25
- Disorder of fucoglycosan synthesis MONDO:0017747 12
- Myopathy caused by variation in FKRP MONDO:0700066 FKRP 3
- Myopathy caused by variation in POMGNT1 MONDO:0700068 POMGNT1 3
- Myopathy caused by variation in POMGNT2 MONDO:0700069 POMGNT2 3
- Autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0014977 POGLUT1
Projects
Including projects on subtypes.
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