Term Name: | spondylocostal dysostosis 4 |
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Synonyms: | autosomal recessive spondylocostal dysostosis 4, SCDO4 |
Definition: | A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. |
Ontology: | Human Disease [DOID:0112364] ( DOID:0112364 ) |