{
    "disease_id": "DOID:0051080",
    "recommended_name": {
        "id": "DOID:0051080",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051080",
        "name": "Alport syndrome 3B",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0957811",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957811",
            "name": "Alport syndrome 3b, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620536",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620536",
            "name": "Alport syndrome 3B, autosomal recessive",
            "description": "Alport syndrome 3B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051080"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051080",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051080",
            "categories": []
        },
        {
            "id": "MONDO:0957811",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957811",
            "categories": []
        },
        {
            "id": "MIM:620536",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620536",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q01955-1",
            "uniprot_ac": "Q01955",
            "uniprot_id": "CO4A3_HUMAN",
            "refseq_ac": "NP_000082",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(IV) chain",
                    "type": "recommended"
                },
                {
                    "name": "Goodpasture antigen",
                    "type": "synonym"
                },
                {
                    "name": "collagen IV, alpha-3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IV) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(IV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type IV, alpha 3 (Goodpasture antigen)",
                    "type": "synonym"
                },
                {
                    "name": "tumstatin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL4A3",
                    "type": "recommended"
                },
                {
                    "name": "ATS2",
                    "type": "synonym"
                },
                {
                    "name": "ATS3A",
                    "type": "synonym"
                },
                {
                    "name": "ATS3B",
                    "type": "synonym"
                },
                {
                    "name": "ATS3",
                    "type": "synonym"
                },
                {
                    "name": "BFH2",
                    "type": "synonym"
                },
                {
                    "name": "COL4A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01955-1",
            "evidence": [
                {
                    "id": "620536",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620536"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051080"
}