loading...| Preferred Name | Alport syndrome | |
| Synonyms |
Alport's syndrome hereditary nephritis Alport deafness-nephropathy |
|
| Definitions |
A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018965 |
|
| closeMatch | ||
| database_cross_reference |
DOID:10983 Orphanet:63 OMIMPS:301050 NCIT:C34842 MedDRA:10001843 ICD10:Q87.81 ICD10:Q87.8 UMLS:C1567741 |
|
| exactMatch |
http://identifiers.org/mesh/D009394 http://linkedlifedata.com/resource/umls/id/C1567741 http://www.orpha.net/ORDO/Orphanet_63 http://purl.obolibrary.org/obo/DOID_10983 |
|
| has exact synonym |
Alport's syndrome hereditary nephritis Alport deafness-nephropathy |
|
| id |
MONDO:0018965 |
|
| imported from | ||
| in_subset | ||
| label |
Alport syndrome |
|
| notation |
MONDO:0018965 |
|
| prefLabel |
Alport syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual definition |
A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019723 http://purl.obolibrary.org/obo/MONDO_0019589 |