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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34842
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34842
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|---|---|
| Preferred Name | Alport Syndrome |
| 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.
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| Synonyms |
Alport's Syndrome
Alport Syndrome
Hereditary Nephritis
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Alport Syndrome
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|---|---|
| Legacy Concept Name |
Alport_s_Syndrome
|
| Preferred_Name |
Alport Syndrome
|
| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C34842
|
| 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.
|
| UMLS_CUI |
C1567741
|
| code |
C34842
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| subClassOf | |
| type | |
| FULL_SYN |
Alport's Syndrome
Alport Syndrome
Hereditary Nephritis
|
| ALT_DEFINITION |
A genetic syndrome caused by abnormalities in the COL4A5 gene that is characterized by hematuria, progressive renal insufficiency, and, in some cases, hearing loss and ocular abnormalities.
|
| Contributing_Source |
Cellosaurus
NICHD
|
| Concept_In_Subset |
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