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
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2074 ERCC6 ERCC excision repair 6, chromatin remodeling factor

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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 9, 2024