loading...| Preferred Name |
BUSCHKE-OLLENDORFF SYNDROME |
| Synonyms |
OSTEOPOIKILOSIS, ISOLATED |
| ID |
http://purl.bioontology.org/ontology/OMIM/166700 |
| altLabel |
OSTEOPOIKILOSIS, ISOLATED DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED DERMATOOSTEOPOIKILOSIS BOS OSTEOPOIKILOSIS WITH MELORHEOSTOSIS OSTEOPATHIA CONDENSANS DISSEMINATA DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS |
| cui |
C3149399 C1833699 C0265514 C3149695 |
| Gene Locus |
12q14 |
| Gene Symbol |
MAN1 LEMD3 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU031294 http://purl.bioontology.org/ontology/OMIM/MTHU031292 http://purl.bioontology.org/ontology/OMIM/MTHU041417 http://purl.bioontology.org/ontology/OMIM/MTHU067328 http://purl.bioontology.org/ontology/OMIM/MTHU031291 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 |
Variable expression [MISCELLANEOUS] Bone changes tend to develop after first decade [MISCELLANEOUS] Skin changes have onset in childhood [MISCELLANEOUS] Caused by mutation in the LEM domain-containing-3 gene (LEMD3, 607844.0001) [MOLECULAR BASIS] |
| tui |
T047 |