Otospondylomegaepiphyseal dysplasia (Q88328)
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Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterised by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1885284987 |
||
| English | Otospondylomegaepiphyseal dysplasia |
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterised by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. |
Statements
CID11:ID_1885284987
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dki-india-ID_1885284987
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Concluído
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13 August 2026
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