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spondyloepiphyseal dysplasia Kondo-Fu type
Summary
- Synonym
-
- SED with elevated blood lysosomal enzymes
- SEDKF
- Definition
- A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.
- Super Class
- autosomal recessive disease spondyloepiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112283
- Mondo Disease Ontology
- OMIM
Related Genes
