Term Name: | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type |
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Synonyms: | Megarbane-Dagher-Melike type chondrodysplasia, SMDMDM |
Definition: | A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. |
Ontology: | Human Disease [DOID:0112304] ( DOID:0112304 ) |