Alport syndrome 3B

Term ID

DOID:0051080

Synonyms

Definition

An Alport syndrome that is characterized by glomerular basement membrane abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss and ocular manifestations may be present. https://pubmed.ncbi.nlm.nih.gov/9792860/

References

• GARD:625
• MIM:620536
• ORDO:88919

Ontology

Human Disease   ( DOID:0051080 )