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General Information
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| Term |
spondyloepimetaphyseal dysplasia with joint laxity type 1 |
ID (Ontology) |
DOID:0112198 (Human Disease) |
| Definition |
A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. |
| Also Known As |
"SEMDJL1" ; "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" |
| 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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spondyloepimetaphyseal dysplasia with joint laxity type 1 | 1 | for disease ribbon | spondyloepimetaphyseal dysplasia with joint laxity type 1 | 1 | model of | spondyloepimetaphyseal dysplasia with joint laxity type 1 | 1 |
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Relationships