FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondylometaphyseal dysplasia type A4 ID (Ontology) DOID:0112301 (Human Disease)
Definition A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities.
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  osteochondrodysplasia
   |__spondylometaphyseal dysplasia
       |__spondylometaphyseal dysplasia type A4
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GARD:458
MESH:C563803
MIM:609052
ORDO:168555
SNOMEDCT_US_2023_03_01:782912001
UMLS_CUI:C1836862