| Metadata | |
|---|---|
| ID | DOID:0111542 |
| Name | familial expansile osteolysis |
| Definition | A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. https://www.ncbi.nlm.nih.gov/pubmed/17447113, https://www.ncbi.nlm.nih.gov/pubmed/12362049, https://www.ncbi.nlm.nih.gov/pubmed/10615125 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254153009 |
| Subsets |
DO_rare_slim |
| Synonyms |
FEO [EXACT] hereditary expansile polyostotic osteolytic dysplasia [EXACT] McCabe disease [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |