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General Information
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| Term |
congenital myopathy 6 |
ID (Ontology) |
DOID:0080719 (Human Disease) |
| Definition |
A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. |
| Also Known As |
"congenital myopathy 6 with ophthalmoplegia" ; "inclusion body myopathy 3" ; "proximal myopathy and ophthalmoplegia" |
| 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 | 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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congenital myopathy 6 | 3 | 1 | 1 | for disease ribbon | congenital myopathy 6 | -- | 1 | -- | model of | congenital myopathy 6 | 3 | 1 | -- |
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Relationships