OBO ID: DOID:0112303
Term Name: spondylometaphyseal dysplasia with corneal dystrophy Search Ontology:
Synonyms:
  • SMDCD
Definition: A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PLCB3 on chromosome 11q13.1. https://pubmed.ncbi.nlm.nih.gov/29122926/
References:
Ontology: Human Disease   (DOID:0112303)
OTHER spondylometaphyseal dysplasia with corneal dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLCB3 Spondylometaphyseal dysplasia with corneal dystrophy 618961
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None