loading...| Preferred Name |
Buschke-Ollendorff syndrome |
| Synonyms |
Buschke Ollendorff syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C537415 |
| altLabel |
Buschke Ollendorff syndrome Dermatofibrosis, disseminated, with osteopoikilosis Dermatofibrosis lenticularis disseminata with osteopoikilosis Osteopathia condensans disseminata Dermatoosteopoikilosis |
| cui |
C0265514 |
| HM |
D010023 D012873 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
43 |
| MMR |
20150817 |
| notation |
C537415 |
| prefLabel |
Buschke-Ollendorff syndrome |
| SC |
3 |
| Scope Statement |
An autosomal dominant connective tissue disorder characterized by multiple subcutaneous NEVI or nodules. They may be either ELASTIN - rich (elastoma) or COLLAGEN -rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis in the EPIPHYSES and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Mutations in the LEMD3 gene have been identified. OMIM: 166700 |
| TERMUI |
T742520 T742517 T742516 T756424 T742519 T742521 |
| TH |
NLM (2010) ORD (2010) OMIM (2013) |
| tui |
T047 |