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Human Disease

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
Ontology
Human Disease   ( DOID:0112303 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models