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General Information
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| Term |
Walker-Warburg syndrome |
ID (Ontology) |
DOID:0050560 (Human Disease) |
| Definition |
A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. |
| Also Known As |
"cerebroocular dysplasia-muscular dystrophy syndrome" ; "HARD syndrome" |
| 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 | 7 | | Human Disease Models (FBhh) | DOID | 2 |
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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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Walker-Warburg syndrome | 7 | 3 | 2 | exacerbates | Walker-Warburg syndrome | 1 | -- | -- | model of | Walker-Warburg syndrome | 6 | -- | -- |
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Relationships