{
    "disease_id": "DOID:0110145",
    "recommended_name": {
        "id": "DOID:0110145",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110145",
        "name": "Bartter disease type 4a",
        "description": "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32."
    },
    "synonyms": [
        {
            "id": "DOID:0110145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110145",
            "name": "BARTS4A",
            "description": ""
        },
        {
            "id": "DOID:0110145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110145",
            "name": "BSND",
            "description": ""
        },
        {
            "id": "DOID:0110145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110145",
            "name": "Bartter syndrome type 4a",
            "description": ""
        },
        {
            "id": "DOID:0110145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110145",
            "name": "neonatal Bartter syndrome with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011242",
            "name": "Bartter disease type 4A",
            "description": "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene."
        },
        {
            "id": "MONDO:0011242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011242",
            "name": "BARTS4A",
            "description": ""
        },
        {
            "id": "MONDO:0011242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011242",
            "name": "BSND",
            "description": ""
        },
        {
            "id": "MONDO:0011242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011242",
            "name": "BSND Bartter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011242",
            "name": "Bartter disease type 4a",
            "description": ""
        },
        {
            "id": "MONDO:0011242",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011242",
            "name": "Bartter syndrome caused by mutation in BSND",
            "description": ""
        },
        {
            "id": "MIM:602522",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602522",
            "name": "Bartter syndrome 4A, neonatal, with sensorineural deafness",
            "description": "Bartter syndrome 4A, neonatal, with sensorineural deafness"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110145"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110145",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110145",
            "categories": []
        },
        {
            "id": "MONDO:0011242",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011242",
            "categories": []
        },
        {
            "id": "MIM:602522",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602522",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F4W6-1",
            "uniprot_ac": "E7F4W6",
            "uniprot_id": "E7F4W6_DANRE",
            "refseq_ac": "NP_001292552",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bartter syndrome, infantile, with sensorineural deafness (Barttin)",
                    "type": "synonym"
                },
                {
                    "name": "Barttin",
                    "type": "synonym"
                },
                {
                    "name": "barttin CLCNK-type chloride channel accessory beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "barttin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bsnd",
                    "type": "recommended"
                },
                {
                    "name": "bsnd",
                    "type": "synonym"
                },
                {
                    "name": "im:7136367",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-51f12.4",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F4W6-1",
            "evidence": [
                {
                    "id": "0110145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VIM4-1",
            "uniprot_ac": "Q8VIM4",
            "uniprot_id": "BSND_MOUSE",
            "refseq_ac": "NP_536706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barttin",
                    "type": "recommended"
                },
                {
                    "name": "Bartter syndrome, infantile, with sensorineural deafness (Barttin)",
                    "type": "synonym"
                },
                {
                    "name": "barttin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bsnd",
                    "type": "recommended"
                },
                {
                    "name": "Bsnd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VIM4-1",
            "evidence": [
                {
                    "id": "0110145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WZ55-1",
            "uniprot_ac": "Q8WZ55",
            "uniprot_id": "BSND_HUMAN",
            "refseq_ac": "NP_476517",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barttin",
                    "type": "recommended"
                },
                {
                    "name": "Bartter syndrome, infantile, with sensorineural deafness (Barttin)",
                    "type": "synonym"
                },
                {
                    "name": "barttin CLCNK type accessory beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "barttin CLCNK-type chloride channel accessory beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "barttin",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 73",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BSND",
                    "type": "recommended"
                },
                {
                    "name": "BART",
                    "type": "synonym"
                },
                {
                    "name": "BSND",
                    "type": "synonym"
                },
                {
                    "name": "DFNB73",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WZ55-1",
            "evidence": [
                {
                    "id": "602522",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602522"
                },
                {
                    "id": "0110145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R2H3-1",
            "uniprot_ac": "Q8R2H3",
            "uniprot_id": "BSND_RAT",
            "refseq_ac": "NP_620435",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Barttin",
                    "type": "recommended"
                },
                {
                    "name": "Bartter syndrome, infantile, with sensorineural deafness (Barttin)",
                    "type": "synonym"
                },
                {
                    "name": "barttin CLCNK type accessory beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "barttin CLCNK-type chloride channel accessory beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "barttin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bsnd",
                    "type": "recommended"
                },
                {
                    "name": "Bsnd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2H3-1",
            "evidence": [
                {
                    "id": "0110145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110145"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110145"
}