Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0112283 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models