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X-linked diffuse leiomyomatosis-Alport syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010641

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. [ Orphanet:1018 ]

Synonyms: Xq22.3 microdeletion syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:2432 (MONDO:GARD)
  • UMLS:C1839884 (MONDO:equivalentTo)
  • OMIM:308940 (Orphanet:1018/e)
  • MESH:C537113 (MONDO:equivalentTo)
  • Orphanet:1018 (OMIM:308940)
  • MEDGEN:333429 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, ordo_subtype_of_a_disorder, nord_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3664

exactMatch

http://www.orpha.net/ORDO/Orphanet_1018

http://identifiers.org/medgen/333429

http://identifiers.org/mesh/C537113

http://linkedlifedata.com/resource/umls/id/C1839884

https://omim.org/entry/308940

has related synonym

chromosome Xq22.3 centromeric deletion syndrome

diffuse leiomyomatosis in Alport syndrome

Alport syndrome with diffuse leiomyomatosis

ATS-DL

DL-ATS

Alport syndrome and diffuse leiomyomatosis

leiomyomatosis, esophageal and vulval, with nephropathy

leiomyomatosis, diffuse, with Alport syndrome

id

MONDO:0010641