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Human Disease

spondylometaphyseal dysplasia type A4

Term ID
DOID:0112301
Synonyms
Definition
A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. (2)
References
Ontology
Human Disease   ( DOID:0112301 )
Relationships
is a type of
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Genes Involved
Zebrafish Models