Buschke-Ollendorff syndrome

Summary
Synonym
  • BOS
  • dermatofibrosis lenticularis disseminata with osteopoikilosis
  • dermatoosteopoikilosis
  • disseminated dermatofibrosis with osteopoikilosis
  • osteopathia condensans disseminata
Definition
A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0111536
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2006 ELN elastin
23592 LEMD3 LEM domain containing 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
380664 Lemd3 LEM domain containing 3

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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