| Metadata | |
|---|---|
| ID | DOID:0112280 |
| Name | spondyloepiphyseal dysplasia |
| Definition | An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. https://emedicine.medscape.com/article/1260836-overview, https://pubmed.ncbi.nlm.nih.gov/16080123/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SED [EXACT] |
| Parent Relationships |