{
    "disease_id": "DOID:0110147",
    "recommended_name": {
        "id": "DOID:0110147",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110147",
        "name": "Bartter disease type 5",
        "description": "A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0110147",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110147",
            "name": "BARTS5",
            "description": ""
        },
        {
            "id": "DOID:0110147",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110147",
            "name": "Bartter syndrome, type 5, antenatal, transient",
            "description": ""
        },
        {
            "id": "MONDO:0010503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010503",
            "name": "Bartter disease type 5",
            "description": "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene."
        },
        {
            "id": "MONDO:0010503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010503",
            "name": "BARTS5",
            "description": ""
        },
        {
            "id": "MONDO:0010503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010503",
            "name": "Bartter syndrome caused by mutation in MAGED2",
            "description": ""
        },
        {
            "id": "MONDO:0010503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010503",
            "name": "Bartter syndrome, type 5, antenatal, transient",
            "description": ""
        },
        {
            "id": "MONDO:0010503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010503",
            "name": "Bartter syndrome, type 5, antenatal, transient, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010503",
            "name": "MAGED2 Bartter syndrome",
            "description": ""
        },
        {
            "id": "MIM:300971",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300971",
            "name": "Bartter syndrome 5, antenatal, transient",
            "description": "Bartter syndrome 5, antenatal, transient"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110147"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110147",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110147",
            "categories": []
        },
        {
            "id": "MONDO:0010503",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010503",
            "categories": []
        },
        {
            "id": "MIM:300971",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300971",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UNF1-1",
            "uniprot_ac": "Q9UNF1",
            "uniprot_id": "MAGD2_HUMAN",
            "refseq_ac": "NP_055414",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanoma-associated antigen D2",
                    "type": "recommended"
                },
                {
                    "name": "11B6",
                    "type": "synonym"
                },
                {
                    "name": "BCG-1",
                    "type": "synonym"
                },
                {
                    "name": "Breast cancer-associated gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocellular carcinoma-associated protein JCL-1",
                    "type": "synonym"
                },
                {
                    "name": "MAGE-D2 antigen",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer-associated gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma-associated protein JCL-1",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen family D, 2",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen family D2",
                    "type": "synonym"
                },
                {
                    "name": "melanoma-associated antigen D2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAGED2",
                    "type": "recommended"
                },
                {
                    "name": "11B6",
                    "type": "synonym"
                },
                {
                    "name": "BARTS5",
                    "type": "synonym"
                },
                {
                    "name": "BCG-1",
                    "type": "synonym"
                },
                {
                    "name": "BCG1",
                    "type": "synonym"
                },
                {
                    "name": "HCA10",
                    "type": "synonym"
                },
                {
                    "name": "MAGE-D2",
                    "type": "synonym"
                },
                {
                    "name": "MAGED2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UNF1-1",
            "evidence": [
                {
                    "id": "300971",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300971"
                },
                {
                    "id": "0110147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3B7U1-1",
            "uniprot_ac": "Q3B7U1",
            "uniprot_id": "Q3B7U1_RAT",
            "refseq_ac": "NP_001258038",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanoma-associated antigen D1",
                    "type": "recommended"
                },
                {
                    "name": "MAGE-D1 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophin receptor-interacting MAGE homolog",
                    "type": "synonym"
                },
                {
                    "name": "melanoma antigen, family D, 2",
                    "type": "synonym"
                },
                {
                    "name": "melanoma-associated antigen D2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Maged2",
                    "type": "recommended"
                },
                {
                    "name": "Maged2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3B7U1-1",
            "evidence": [
                {
                    "id": "0110147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9I7L4-1",
            "uniprot_ac": "Q9I7L4",
            "uniprot_id": "Q9I7L4_DROME",
            "refseq_ac": "NP_649702",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10059-PA",
                    "type": "synonym"
                },
                {
                    "name": "MAGE-PA",
                    "type": "synonym"
                },
                {
                    "name": "MAGE",
                    "type": "synonym"
                },
                {
                    "name": "necdin",
                    "type": "synonym"
                },
                {
                    "name": "sleepless in seattle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAGE",
                    "type": "recommended"
                },
                {
                    "name": "CG10059",
                    "type": "synonym"
                },
                {
                    "name": "DMAGE",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10059",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10059",
                    "type": "synonym"
                },
                {
                    "name": "MAGE",
                    "type": "synonym"
                },
                {
                    "name": "Mage",
                    "type": "synonym"
                },
                {
                    "name": "Nse3",
                    "type": "synonym"
                },
                {
                    "name": "sst",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I7L4-1",
            "evidence": [
                {
                    "id": "0110147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110147"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110147"
}