X-linked diffuse leiomyomatosis-Alport syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
MONDO:0005240
kidney disorder
is_a
MONDO:0017007
partial deletion of the long arm of chromosome X
is_a
ATS-DL
related
Alport syndrome with diffuse leiomyomatosis
related
DL-ATS
related
Xq22.3 microdeletion syndrome
exact
diffuse leiomyomatosis in Alport syndrome
related
leiomyomatosis, diffuse, with Alport syndrome
related