| Metadata | |
|---|---|
| ID | DOID:0112297 |
| Name | spondylometaphyseal dysplasia corner fracture type |
| Definition | A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. https://pubmed.ncbi.nlm.nih.gov/29100092/, https://pubmed.ncbi.nlm.nih.gov/2343127/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:254078005 |
| Subsets |
DO_rare_slim |
| Synonyms |
SMDCF [EXACT] spondylometaphyseal dysplasia Sutcliffe type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |