OBO ID: DOID:0112303 |
Term Name: | spondylometaphyseal dysplasia with corneal dystrophy | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112303 ) |
OTHER spondylometaphyseal dysplasia with corneal dystrophy PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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