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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
Displaying 1 entry
Gene ID Gene Symbol Description Source
8720 MBTPS1 membrane bound transcription factor peptidase, site 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
56453 Mbtps1 membrane-bound transcription factor peptidase, site 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
89842 Mbtps1 membrane-bound transcription factor peptidase, site 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024