| Metadata | |
|---|---|
| ID | DOID:0060462 |
| Name | Desbuquois dysplasia |
| Definition | An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. https://www.ncbi.nlm.nih.gov/pubmed/19853239, https://www.ncbi.nlm.nih.gov/pubmed/21037275 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254099008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Desbuquois syndrome [EXACT] micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification [EXACT] |
| Parent Relationships |