Term Name: spondylometaphyseal dysplasia type A4
Synonyms:
Definition: A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.
Ontology: Human Disease [DOID:0112301]   ( DOID:0112301 )

Relationships
is a type of: spondylometaphyseal dysplasia