Term Name: | spondylometaphyseal dysplasia type A4 |
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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 ) |