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General Information
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| Term |
autosomal recessive limb-girdle muscular dystrophy type 2H |
ID (Ontology) |
DOID:0110282 (Human Disease) |
| Definition |
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. |
| Also Known As |
"LGMD2H" ; "limb-girdle muscular dystrophy due to TRIM32 deficiency" ; "muscular dystrophy Hutterite type" (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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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 3 | | 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 recessive limb-girdle muscular dystrophy type 2H | 3 | 1 | 1 | model of | autosomal recessive limb-girdle muscular dystrophy type 2H | 3 | -- | -- |
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Relationships