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General Information
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| Term |
congenital muscular dystrophy-dystroglycanopathy type A2 |
ID (Ontology) |
DOID:0111240 (Human Disease) |
| Definition |
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. |
| Also Known As |
"congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2" ; "MDDGA2" ; "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related" |
| 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 muscular dystrophy-dystroglycanopathy type A2 | 1 | 1 | for disease ribbon | congenital muscular dystrophy-dystroglycanopathy type A2 | 1 | -- | model of | congenital muscular dystrophy-dystroglycanopathy type A2 | 1 | -- |
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Relationships