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General Information
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| Term |
congenital myopathy 2C |
ID (Ontology) |
DOID:0081340 (Human Disease) |
| Definition |
A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). |
| Also Known As |
"autosomal dominant severe infantile congenital myopathy 2C" |
| 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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| 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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| Genes | Human Disease Models |
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congenital myopathy 2C | 6 | 1 | for disease ribbon | congenital myopathy 2C | 6 | -- | model of | congenital myopathy 2C | 6 | -- |
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Relationships