Search Ontology:
Human Disease
muscular dystrophy-dystroglycanopathy type B1
- Term ID
- DOID:0050588
- Synonyms
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- CMD due to dystroglycanopathy
- Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
- 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 )
- is a type of
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