loading...| Preferred Name |
BUSCHKE-OLLENDORFF SYNDROME |
|
| Synonyms |
DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/166700 |
|
| altLabel |
DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS OSTEOPOIKILOSIS, ISOLATED DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED OSTEOPATHIA CONDENSANS DISSEMINATA DERMATOOSTEOPOIKILOSIS OSTEOPOIKILOSIS WITH MELORHEOSTOSIS BOS |
|
| cui |
C1833699 C3149399 C3149695 C0265514 |
|
| Gene Locus |
12q14 |
|
| Gene Symbol |
LEMD3 MAN1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU041417 http://purl.bioontology.org/ontology/OMIM/MTHU031291 http://purl.bioontology.org/ontology/OMIM/MTHU031292 http://purl.bioontology.org/ontology/OMIM/MTHU005522 http://purl.bioontology.org/ontology/OMIM/MTHU034889 http://purl.bioontology.org/ontology/OMIM/MTHU031293 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
166700 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
BUSCHKE-OLLENDORFF SYNDROME |
|
| Scope Statement |
Caused by mutation in the LEM domain-containing-3 gene (LEMD3, 607844.0001) [MOLECULAR BASIS] Skin changes have onset in childhood [MISCELLANEOUS] Variable expression [MISCELLANEOUS] Bone changes tend to develop after first decade [MISCELLANEOUS] |
|
| tui |
T047 |