Preferred Label : Diffuse Leiomyomatosis Syndrome;
NCIt definition : A syndrome characterized by multiple, benign nodular smooth muscle neoplasms of the
esophagus, tracheobronchial tree and the genitourinary tract. Clinical signs include
dysphagia with retrosternal pain, dyspnea and genital hypertrophy. There is a strong
association with Alport Syndrome in patients with deletions in the type IV collagen
alpha chain genes COL4A5 and COL4A6.;
Origin ID : C39855;
UMLS CUI : C1511954;
Semantic type(s)
- disease_may_have_associated_disease
