Search Ontology:
Human Disease
spondylometaphyseal dysplasia with corneal dystrophy
- Term ID
- DOID:0112303
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models