Search Ontology:
Human Disease
autosomal dominant spondyloepiphyseal dysplasia tarda
- Term ID
- DOID:0112285
- Synonyms
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- Definition
- A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. (2)
- References
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- GARD:10624
- MIM:184100
- Ontology
- Human Disease ( DOID:0112285 )
- is a type of
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Genes Involved
Zebrafish Models