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General Information
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| Term |
autosomal dominant limb-girdle muscular dystrophy type 2 |
ID (Ontology) |
DOID:0110304 (Human Disease) |
| Definition |
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. |
| Also Known As |
"autosomal dominant limb-girdle muscular dystrophy type 1F" ; "muscular dystrophy limb-girdle type 1F" |
| Comment |
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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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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
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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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| Alleles | Genes | Human Disease Models |
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autosomal dominant limb-girdle muscular dystrophy type 2 | 2 | 3 | 1 | for disease ribbon | autosomal dominant limb-girdle muscular dystrophy type 2 | -- | 2 | -- | model of | autosomal dominant limb-girdle muscular dystrophy type 2 | 2 | 2 | -- |
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Relationships