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Metadata
ID	DOID:0112301
Name	spondylometaphyseal dysplasia type A4
Definition	A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. https://pubmed.ncbi.nlm.nih.gov/1870931/, https://pubmed.ncbi.nlm.nih.gov/9637426/
Xrefs	GARD:458 MESH:C563803 MIM:609052 ORDO:168555 SNOMEDCT_US_2023_03_01:782912001 UMLS_CUI:C1836862
Subsets	DO_rare_slim
Parent Relationships	is_a spondylometaphyseal dysplasia