loading...| Preferred Name |
Buschke-Ollendorff syndrome |
|
| Synonyms |
Buschke Ollendorff syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537415 |
|
| altLabel |
Buschke Ollendorff syndrome Dermatofibrosis lenticularis disseminata with osteopoikilosis Dermatoosteopoikilosis Dermatofibrosis, disseminated, with osteopoikilosis Osteopathia condensans disseminata |
|
| cui |
C0265514 |
|
| HM |
D012873 D010023 |
|
| 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 |
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| TERMUI |
T742521 T742520 T756424 T742519 T742516 T742517 |
|
| TH |
OMIM (2013) NLM (2010) ORD (2010) |
|
| tui |
T047 |