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 )

Relationships
is a type of: autosomal dominant disease spondyloepiphyseal dysplasia tarda