Search Ontology:
Human Disease
Buschke-Ollendorff syndrome
- Term ID
- DOID:0111536
- 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
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- GARD:1044
- MESH:C537415
- MIM:166700
- ORDO:1306
- SNOMEDCT_US_2023_03_01:60399005
- UMLS_CUI:C0265514
- Ontology
- Human Disease ( DOID:0111536 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models