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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

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