OBO ID: DOID:0112283
Term Name: spondyloepiphyseal dysplasia Kondo-Fu type Search Ontology:
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 )
OTHER spondyloepiphyseal dysplasia Kondo-Fu type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MBTPS1 ?Spondyloepiphyseal dysplasia, Kondo-Fu type 618392
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None