spondyloepiphyseal dysplasia Kondo-Fu type

Term ID

DOID:0112283

Synonyms

• 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. https://pubmed.ncbi.nlm.nih.gov/30046013/

References

• OMIM:618392

Ontology

Human Disease   ( DOID:0112283 )