spondylometaphyseal dysplasia with corneal dystrophy

Term ID

DOID:0112303

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. https://pubmed.ncbi.nlm.nih.gov/29122926/

References

• OMIM:618961

Ontology

Human Disease   ( DOID:0112303 )