loading...| Preferred Name |
Buschke-Ollendorff syndrome |
| Synonyms |
dermatofibrosis lenticularis disseminata with osteopoikilosis |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111536 |
| database_cross_reference |
MESH:C537415 ORDO:1306 OMIM:166700 UMLS_CUI:C0265514 SNOMEDCT_US_2022_09_01:60399005 GARD:1044 |
| 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. |
| has exact synonym |
dermatofibrosis lenticularis disseminata with osteopoikilosis disseminated dermatofibrosis with osteopoikilosis osteopathia condensans disseminata BOS dermatoosteopoikilosis |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111536 |
| in_subset | |
| label |
Buschke-Ollendorff syndrome |
| notation |
DOID:0111536 |
| prefLabel |
Buschke-Ollendorff syndrome |
| subClassOf |