loading...| Preferred Name | Alport Syndrome | |
| Synonyms |
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| Definitions |
A genetic syndrome usually inherited as an X-link trait. It is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. |
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| ID |
http://purl.obolibrary.org/obo/HIO_0000019 |
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| description |
A genetic syndrome usually inherited as an X-link trait. It is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. |
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| created_by |
Jade Hotchkiss |
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| creation_date |
2019-05-24T10:04:49.778837Z |
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| database cross reference |
NCIT:C34842 |
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| definition source | ||
| existence in other ontologies |
Sufficient |
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| gene carrying contributing genetic variation |
http://purl.obolibrary.org/obo/HIO_0000311 |
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| has mode of inheritance | ||
| hasExactSynonym |
Alport's Syndrome Hereditary Nephritis |
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| label |
Alport Syndrome |
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| prefixIRI |
HIO:0000019 |
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| prefLabel |
Alport Syndrome |
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| subClassOf |