{
    "disease_id": "DOID:0110033",
    "recommended_name": {
        "id": "DOID:0110033",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110033",
        "name": "Alport syndrome 2",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0110033",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110033",
            "name": "autosomal recessive Alport syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008762",
            "name": "autosomal recessive Alport syndrome",
            "description": "Autosomal recessive 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. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed."
        },
        {
            "id": "MONDO:0008762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008762",
            "name": "Alport syndrome 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0008762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008762",
            "name": "Alport syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0008762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008762",
            "name": "Alport syndrome autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0008762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008762",
            "name": "Alport syndrome recessive type",
            "description": ""
        },
        {
            "id": "MONDO:0008762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008762",
            "name": "nephropathy and deafness",
            "description": ""
        },
        {
            "id": "MIM:203780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203780",
            "name": "Alport syndrome 2, autosomal recessive",
            "description": "Alport syndrome 2, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110033"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110033",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110033",
            "categories": []
        },
        {
            "id": "MONDO:0008762",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008762",
            "categories": []
        },
        {
            "id": "MIM:203780",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203780",
            "categories": []
        }
    ],
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            "uniprot_ac": "X1WFR7",
            "uniprot_id": "X1WFR7_DANRE",
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            "glycoprotein": "yes",
            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein col4a4",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein col4a4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "col4a4",
                    "type": "recommended"
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                {
                    "name": "col4a4",
                    "type": "synonym"
                }
            ],
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                    "id": "0110033",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110033"
                }
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                }
            ],
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                {
                    "name": "Uncharacterized protein col4a3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein col4a3 isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "col4a3",
                    "type": "recommended"
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                    "type": "synonym"
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                    "id": "0110033",
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                }
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            "uniprot_ac": "Q5TZ51",
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                    "common_name": "Zebrafish",
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                }
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                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
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                    "name": "MpV17 mitochondrial inner membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "MpV17 transgene, murine homolog, glomerulosclerosis",
                    "type": "synonym"
                },
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                    "name": "Protein Mpv17",
                    "type": "synonym"
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                {
                    "name": "mitochondrial inner membrane protein Mpv17",
                    "type": "synonym"
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                    "name": "protein Mpv17",
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                    "name": "mpv17",
                    "type": "recommended"
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                    "name": "roy",
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                    "id": "0110033",
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        },
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-3(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IV) chain",
                    "type": "synonym"
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                    "name": "collagen type IV alpha3 chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type IV, alpha 3",
                    "type": "synonym"
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                {
                    "name": "tumstatin",
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                }
            ],
            "gene_names": [
                {
                    "name": "Col4a3",
                    "type": "recommended"
                },
                {
                    "name": "Col4a3",
                    "type": "synonym"
                },
                {
                    "name": "[a]3(IV)",
                    "type": "synonym"
                },
                {
                    "name": "alpha3(IV)",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZS0-1",
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                {
                    "id": "0110033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110033"
                }
            ]
        },
        {
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Collagen alpha-4(IV) chain",
                    "type": "recommended"
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                {
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                {
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                {
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                    "type": "synonym"
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                {
                    "name": "Col4a4",
                    "type": "recommended"
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                {
                    "name": "Col4a4",
                    "type": "synonym"
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                {
                    "name": "E130010M05Rik",
                    "type": "synonym"
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                    "name": "[a]4(IV)",
                    "type": "synonym"
                }
            ],
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                    "id": "0110033",
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                }
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Mitochondrial inner membrane protein Mpv17",
                    "type": "recommended"
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                    "name": "Mpv-17",
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                {
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                    "type": "synonym"
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                {
                    "name": "mitochondrial inner membrane protein Mpv17 isoform 1",
                    "type": "synonym"
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                {
                    "name": "mitochondrial inner membrane protein Mpv17",
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                {
                    "name": "protein Mpv17",
                    "type": "synonym"
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                    "name": "Mpv17",
                    "type": "recommended"
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                {
                    "name": "Mpv17",
                    "type": "synonym"
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                {
                    "name": "Tg.Mpv17",
                    "type": "synonym"
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            "record_id": "P19258-1",
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                    "id": "0110033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110033"
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        {
            "uniprot_canonical_ac": "P53420-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                }
            ],
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                    "name": "Collagen alpha-4(IV) chain",
                    "type": "recommended"
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                    "type": "synonym"
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "COL4A4",
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                    "taxid": 559292,
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                    "name": "ethanol metabolism protein",
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                    "name": "bone Gla-protein",
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                    "name": "Complement C2",
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                    "name": "C3/C5 convertase",
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                    "name": "Cfb",
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                    "name": "ATS3A",
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                    "name": "ATS3B",
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                    "name": "ATS3",
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110033"
}