FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant Alport syndrome ID (Ontology) DOID:0110032 (Human Disease)
Definition An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene.
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 Genes
 autosomal dominant Alport syndrome       1
 for disease ribbon | autosomal dominant Alport syndrome       1
 model of | autosomal dominant Alport syndrome       1
Spanning Tree (Parents/Children)
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monogenic disease
 |__Alport syndrome_____________
autosomal genetic disease       |
 |__autosomal dominant disease__|
syndrome                        |
 |__Alport syndrome_____________|
                                autosomal dominant Alport syndrome  1 rec.
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Is a autosomal dominant disease
Alport syndrome
Part of
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GARD:624
MIM:104200
ORDO:88918