loading...| Preferred Name | Alport syndrome | |
| Synonyms |
hereditary nephritis Alport deafness-nephropathy Alport's syndrome Alport syndrome |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018965 |
|
| closeMatch | ||
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0018965 |
|
| database_cross_reference |
MedDRA:10001843 NANDO:2200126 UMLS:C1567741 Orphanet:63 icd11.foundation:1170919425 ICD10CM:Q87.81 NCIT:C34842 OMIMPS:301050 MEDGEN:339209 MESH:D009394 NANDO:1200712 DOID:10983 GARD:5785 NORD:756 |
|
| definition |
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. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C1567741 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1170919425 https://omim.org/phenotypicSeries/PS301050 http://identifiers.org/medgen/339209 http://purl.obolibrary.org/obo/Orphanet_63 http://purl.bioontology.org/ontology/ICD10CM/Q87.81 |
|
| has_broad_synonym |
hereditary nephritis |
|
| has_exact_synonym |
Alport deafness-nephropathy Alport's syndrome Alport syndrome |
|
| IAO_0000233 | ||
| id |
MONDO:0018965 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Alport syndrome |
|
| notation |
MONDO:0018965 |
|
| preferred label |
Alport syndrome |
|
| prefLabel |
Alport syndrome |
|
| subClassOf | ||
| excluded_subClassOf |