OBO ID: DOID:0050588 |
Term Name: | muscular dystrophy-dystroglycanopathy type B1 | Search Ontology: | |
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Synonyms: |
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Definition: | A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. https://www.omim.org/entry/613155 | ||
References: | |||
Ontology: | Human Disease ( DOID:0050588 ) |
OTHER muscular dystrophy-dystroglycanopathy type B1 PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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AB + MO2-inpp5ka | standard conditions | Osborn et al., 2017 |
AB + MO3-fkrp | standard conditions | Bailey et al., 2019 |
WT + MO1-dag1 | standard conditions | Goody et al., 2012 |
PHENOTYPE
No data available
CITATIONS (3)
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