ZFIN Human Disease: Buschke-Ollendorff syndrome

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 the LEMD3 gene on chromosome 12q14.3. (3)
References:	GARD:1044 MESH:C537415 OMIM:166700 ORDO:1306 SNOMEDCT_US_2023_03_01:60399005 UMLS_CUI:C0265514
Ontology:	Human Disease ( DOID:0111536 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER Buschke-Ollendorff syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LEMD3	lemd3	Buschke-Ollendorff syndrome	166700
		Osteopoikilosis with or without melorheostosis	166700

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None