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General Information
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| Term |
autosomal recessive limb-girdle muscular dystrophy type 2O |
ID (Ontology) |
DOID:0110292 (Human Disease) |
| Definition |
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. |
| Also Known As |
"LGMD2O" ; "MDDGC3" ; "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | for disease ribbon | autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | model of | autosomal recessive limb-girdle muscular dystrophy type 2O | 1 |
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Relationships