eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alport syndrome |
| Symptom | C0206654|leiomyomatosis |
| Sentences | 4 |
| PubMedID- 25863991 | The diagnosis of diffuse leiomyomatosis associated with an alport syndrome was made with extensive involvement of the esophagus, rectum and clitoris fig. |
| PubMedID- 20614415 | Ultrasound: a helpful diagnostic tool in esophageal leiomyomatosis with alport syndrome. |
| PubMedID- 24397218 | alport syndrome with diffuse leiomyomatosis (asdl) is a complex combination that doesn't have a specific course of treatment. |
| PubMedID- 23958657 | Deletion of the 5'exons of col4a6 is not needed for the development of diffuse leiomyomatosis in patients with alport syndrome. |
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