{
    "disease_id": "DOID:0110032",
    "recommended_name": {
        "id": "DOID:0110032",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110032",
        "name": "autosomal dominant Alport syndrome",
        "description": "An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0007086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007086",
            "name": "autosomal dominant Alport syndrome",
            "description": "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."
        },
        {
            "id": "MONDO:0007086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007086",
            "name": "Alport syndrome 3, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007086",
            "name": "Alport syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007086",
            "name": "Alport syndrome dominant type",
            "description": ""
        },
        {
            "id": "MONDO:0007086",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007086",
            "name": "renal failure and sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MIM:104200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/104200",
            "name": "Alport syndrome 3, autosomal dominant",
            "description": "Alport syndrome 3, autosomal dominant"
        }
    ]
}