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X-linked keratosis follicularis spinulosa decalvans

Summary
Definition
A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene.
Super Class
X-linked recessive disease keratosis follicularis spinulosa decalvans
Disease Ontology
DOID:0080754
Mondo Disease Ontology
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
51360 MBTPS2 membrane bound transcription factor peptidase, site 2
Related Glycoprotein
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International Collaboration

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: December 8, 2025