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General Information
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| Term |
spondyloepimetaphyseal dysplasia, Genevieve-type |
ID (Ontology) |
DOID:0080576 (Human Disease) |
| Definition |
A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. |
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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, Genevieve-type | 1 | for disease ribbon | spondyloepimetaphyseal dysplasia, Genevieve-type | 1 | model of | spondyloepimetaphyseal dysplasia, Genevieve-type | 1 |
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Relationships