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| Term | Buschke-Ollendorff syndrome | ID (Ontology) | DOID:0111536 (Human Disease) |
| 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. | ||
| Also Known As | "BOS" ; "dermatofibrosis lenticularis disseminata with osteopoikilosis" ; "dermatoosteopoikilosis" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| Buschke-Ollendorff syndrome 1 rec. |
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autosomal dominant disease syndrome |
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GARD:1044 MESH:C537415 MIM:166700 ORDO:1306 SNOMEDCT_US_2023_03_01:60399005 UMLS_CUI:C0265514 |
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