| Metadata | |
|---|---|
| ID | DOID:0111536 |
| Name | Buschke-Ollendorff syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/19438932, https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15489854 |
| Xrefs |
SNOMEDCT_US_2023_03_01:60399005 |
| Subsets |
DO_rare_slim |
| Synonyms |
BOS [EXACT] dermatofibrosis lenticularis disseminata with osteopoikilosis [EXACT] dermatoosteopoikilosis [EXACT] disseminated dermatofibrosis with osteopoikilosis [EXACT] osteopathia condensans disseminata [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |