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Disorder of protein O-glycosylation

MONDO:0017741

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

Also known as: disorder of protein O-linked glycosylation, protein O-linked glycosylation disease

37 clinical trials for this condition and its sub-types.

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Sub-types

Autosomal recessive limb-girdle muscular dystrophy type 2I (6) Dowling-Degos disease 1 (4) Autosomal recessive limb-girdle muscular dystrophy type 2K (1) Autosomal recessive limb-girdle muscular dystrophy type 2M (1) Autosomal recessive limb-girdle muscular dystrophy type 2N (1) Autosomal recessive limb-girdle muscular dystrophy type 2O (1) Autosomal recessive limb-girdle muscular dystrophy type 2R1 (1) Autosomal recessive limb-girdle muscular dystrophy type 2T (1) Autosomal recessive limb-girdle muscular dystrophy type 2U (1) Myopathy caused by variation in FKTN (1) Autosomal recessive spondylocostal dysostosis (0) Congenital muscular dystrophy caused by variation in POMGNT2 (0) Disorder of fucoglycosan synthesis (0) Dowling-Degos disease (0) Dowling-Degos disease 2 (0) Dowling-degos disease 3 (0) Dowling-Degos disease 4 (0) Limb-girdle muscular dystrophy due to POMK deficiency (0) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (0) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Congenital disorder of glycosylation (6) Disease of genetic or genomic mechanism (2) Glycoprotein metabolism disease (1) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 16 Not yet recruiting 4 Not yet finished but already full! 9 Completed 8
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