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Standards Ontologies Notations
Alport syndrome

Summary
Synonym
  • Hereditary Nephritis
Definition
A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
Super Class
monogenic disease syndrome
Disease Ontology
DOID:10983
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
1285 COL4A3 collagen type IV alpha 3 chain
1286 COL4A4 collagen type IV alpha 4 chain
1287 COL4A5 collagen type IV alpha 5 chain
3123 HLA-DRB1 major histocompatibility complex, class II, DR beta 1
4314 MMP3 matrix metallopeptidase 3
Displaying all 3 entries
Gene ID Gene Symbol Description Source
12828 Col4a3 collagen, type IV, alpha 3
12829 Col4a4 collagen, type IV, alpha 4
14969 H2-Eb1 histocompatibility 2, class II antigen E beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
33727 Col4a1 Collagen type IV alpha 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
178748 zmp-3 Matrix metalloproteinase-C
181708 let-2 Collagen alpha-2(IV) chain
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024