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asphyxiating thoracic dystrophy
Summary
- Synonym
-
- Jeune syndrome
- short-rib thoracic dysplasia with or without polydactyly
- thoracic pelvic phalangeal dystrophy
- Definition
- A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
- Super Class
- bone development disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 74477 | 4933427D14Rik | RIKEN cDNA 4933427D14 gene | |
| 110350 | Dync2h1 | dynein cytoplasmic 2 heavy chain 1 |
