FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive Alport syndrome ID (Ontology) DOID:0110033 (Human Disease)
Definition An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.
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 Genes
 autosomal recessive Alport syndrome       2
 for disease ribbon | autosomal recessive Alport syndrome       2
 model of | autosomal recessive Alport syndrome       2
Spanning Tree (Parents/Children)
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monogenic disease
 |__Alport syndrome______________
autosomal genetic disease        |
 |__autosomal recessive disease__|
syndrome                         |
 |__Alport syndrome______________|
                                 autosomal recessive Alport syndrome  2 rec.
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Is a autosomal recessive disease
Alport syndrome
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GARD:625
MIM:203780
ORDO:88919