"GARD:458"^^ . "spondylometaphyseal dysplasia type A4"^^ . . . "disease_ontology"^^ . . "MESH:C563803"^^ . "OMIM:609052"^^ . "UMLS_CUI:C1836862"^^ . "DOID:0112301"^^ . "SNOMEDCT_US_2021_09_01:782912001"^^ . "ORDO:168555"^^ . "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities."^^ .