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Metadata
ID	DOID:0112303
Name	spondylometaphyseal dysplasia with corneal dystrophy
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. https://pubmed.ncbi.nlm.nih.gov/29122926/
Xrefs	MIM:618961
Synonyms	SMDCD [EXACT]
Parent Relationships	is_a spondylometaphyseal dysplasia is_a autosomal recessive disease