Term Name:	spondylometaphyseal dysplasia with corneal dystrophy
Synonyms:	SMDCD
Definition:	A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1.
Ontology:	Human Disease [DOID:0112303]   ( DOID:0112303 )