Term Name: | autosomal dominant spondyloepiphyseal dysplasia tarda |
---|---|
Synonyms: | |
Definition: | A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. |
Ontology: | Human Disease [DOID:0112285] ( DOID:0112285 ) |