OBO ID: DOID:0111536
Term Name: Buschke-Ollendorff syndrome Search Ontology:
Synonyms:
  • 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 LEMD3 on chromosome 12q14.3. (3)
References:
Ontology: Human Disease   (DOID:0111536)
OTHER Buschke-Ollendorff syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LEMD3 Buschke-Ollendorff syndrome 166700
Osteopoikilosis with or without melorheostosis 166700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None