has characteristic has characteristic has material basis in germline mutation in COL4A3 Autosomal dominant inheritance autosomal dominant disease autosomal dominant Alport syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome https://www.malacards.org/card/alport_syndrome_3a_autosomal_dominant https://www.malacards.org/card/autosomal_dominant_alport_syndrome Orphanet:88918 Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. GARD:0000624 renal failure and sensorineural hearing loss SCTID:717766000 Alport syndrome, autosomal dominant Alport syndrome 3, autosomal dominant DOID:0110032 Alport syndrome dominant type MEDGEN:1848787 OMIM:104200 UMLS:C5882663 MONDO:0007086 Alport syndrome