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DO Term : spondylometaphyseal dysplasia with corneal dystrophy [DOID:0112303] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:618961,
  • 618961,
  • SMDCD
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