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MIRAGE
De Sanctis-Cacchione syndrome

Summary
Synonym
  • xeroderma pigmentosum with neurologic manifestation
Definition
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration.
Super Class
xeroderma pigmentosum
Disease Ontology
DOID:0112158
Mondo Disease Ontology
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Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2074 ERCC6 ERCC excision repair 6, chromatin remodeling factor
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q03468 DNA excision repair protein ERCC-6
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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: April 7, 2025