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Alport syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018965

A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. [ Orphanet:63 ]

Synonyms: Alport deafness-nephropathy Alport syndrome Alport's syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C34842 (MONDO:equivalentTo)
  • MESH:D009394 (Orphanet:63/e)
  • OMIMPS:301050 (MONDO:equivalentTo)
  • MedDRA:10001843 (Orphanet:63/e)
  • UMLS:C1567741 (Orphanet:63/e)
  • Orphanet:63 (MONDO:equivalentTo)
  • GARD:5785 (Orphanet:63)
  • NORD:756 (MONDO:NORD)
  • DOID:10983 (MONDO:equivalentTo)
  • ICD10CM:Q87.81 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3367

closeMatch

http://identifiers.org/meddra/10001843

exactMatch

http://purl.obolibrary.org/obo/NCIT_C34842

http://purl.obolibrary.org/obo/DOID_10983

http://linkedlifedata.com/resource/umls/id/C1567741

http://www.orpha.net/ORDO/Orphanet_63

https://omim.org/phenotypicSeries/PS301050

http://purl.bioontology.org/ontology/ICD10CM/Q87.81

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020237

has broad synonym

hereditary nephritis

id

MONDO:0018965

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018965

Term relations