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General Information
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| Term |
Schwartz-Jampel syndrome 1 |
ID (Ontology) |
DOID:0090005 (Human Disease) |
| Definition |
A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. |
| Also Known As |
"Aberfeld syndrome" ; "Burton skeletal dysplasia" ; "Burton syndrome" (for all, see Synonyms field below) |
| 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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No relevant records available
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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 |
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Schwartz-Jampel syndrome 1 | 1 | for disease ribbon | Schwartz-Jampel syndrome 1 | 1 | model of | Schwartz-Jampel syndrome 1 | 1 |
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Relationships