loading...| Preferred Name | Alport syndrome | |
| Synonyms |
hereditary nephritis Alport's syndrome Alport syndrome 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 |
|
| altLabel |
hereditary nephritis Alport's syndrome Alport syndrome Alport deafness-nephropathy |
|
| 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. |
|
| has_broad_synonym |
hereditary nephritis |
|
| has_exact_synonym |
Alport's syndrome Alport syndrome Alport deafness-nephropathy |
|
| IAO_0000233 | ||
| label |
Alport syndrome |
|
| prefixIRI |
MONDO:0018965 |
|
| prefLabel |
Alport syndrome |
|
| 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_0002462 http://purl.obolibrary.org/obo/MONDO_0019723 http://purl.obolibrary.org/obo/MONDO_0020237 |