OBO ID: DOID:0112283 |
Term Name: | spondyloepiphyseal dysplasia Kondo-Fu type | Search Ontology: | |
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Definition: | A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. https://pubmed.ncbi.nlm.nih.gov/30046013/ | ||
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Ontology: | Human Disease ( DOID:0112283 ) |
OTHER spondyloepiphyseal dysplasia Kondo-Fu type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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