autosomal recessive Alport syndrome

Term ID

DOID:0110033

Synonyms

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. https://www.ncbi.nlm.nih.gov/pubmed/25575550

References

• GARD:625
• OMIM:203780
• ORDO:88919

Ontology

Human Disease   ( DOID:0110033 )