Otospondylomegaepiphyseal dysplasia (Q88328): Difference between revisions
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Revision as of 14:31, 15 August 2026
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 |
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| default for all languages | ID_1885284987 |
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| 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. |
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CID11:ID_1885284987
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dki-india-ID_1885284987
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