Term Name: spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
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 )

Relationships
is a type of: autosomal recessive disease spondylometaphyseal dysplasia