Diaphanospondylodysostosis (Q86536): Difference between revisions
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Revision as of 11:57, 15 August 2026
Diaphanospondylodysostosis is a skeletal dysplasia characterised by absent ossification of the vertebral bodies and sacrum associated with variable anomalies (short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate).
| Language | Label | Description | Also known as |
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| default for all languages | ID_508093071 |
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| English | Diaphanospondylodysostosis |
Diaphanospondylodysostosis is a skeletal dysplasia characterised by absent ossification of the vertebral bodies and sacrum associated with variable anomalies (short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate). |
