{
    "disease_id": "DOID:0110144",
    "recommended_name": {
        "id": "DOID:0110144",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110144",
        "name": "Bartter disease type 3",
        "description": "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110144",
            "name": "BARTS3",
            "description": ""
        },
        {
            "id": "DOID:0110144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110144",
            "name": "Bartter syndrome type 3",
            "description": ""
        },
        {
            "id": "DOID:0110144",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110144",
            "name": "classic Bartter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011822",
            "name": "Bartter disease type 3",
            "description": "Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II."
        },
        {
            "id": "MONDO:0011822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011822",
            "name": "BARTS3",
            "description": ""
        },
        {
            "id": "MONDO:0011822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011822",
            "name": "Bartter disease type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011822",
            "name": "Bartter syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011822",
            "name": "Bartter syndrome type III",
            "description": ""
        },
        {
            "id": "MONDO:0011822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011822",
            "name": "adult Bartter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011822",
            "name": "Bartter syndrome classic",
            "description": ""
        },
        {
            "id": "MIM:607364",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607364",
            "name": "Bartter syndrome 3",
            "description": "Bartter syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110144"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110144",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110144",
            "categories": []
        },
        {
            "id": "MONDO:0011822",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011822",
            "categories": []
        },
        {
            "id": "MIM:607364",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607364",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WUB6-1",
            "uniprot_ac": "Q9WUB6",
            "uniprot_id": "CLCKB_MOUSE",
            "refseq_ac": "NP_062675",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein ClC-Kb",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel Kb",
                    "type": "synonym"
                },
                {
                    "name": "ClC-K2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel K1-like",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel Kb",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein ClC-Kb",
                    "type": "synonym"
                },
                {
                    "name": "clC-K2",
                    "type": "synonym"
                },
                {
                    "name": "putative basolateral cTAL chloride channel ClC-Ka",
                    "type": "synonym"
                },
                {
                    "name": "putative basolateral mTAL chloride channel ClC-Ka",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcnkb",
                    "type": "recommended"
                },
                {
                    "name": "CLCKB",
                    "type": "synonym"
                },
                {
                    "name": "Clc-Ka",
                    "type": "synonym"
                },
                {
                    "name": "Clck2",
                    "type": "synonym"
                },
                {
                    "name": "Clckb",
                    "type": "synonym"
                },
                {
                    "name": "Clcnk1l",
                    "type": "synonym"
                },
                {
                    "name": "Clcnk2",
                    "type": "synonym"
                },
                {
                    "name": "Clcnkb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUB6-1",
            "evidence": [
                {
                    "id": "0110144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WUB7-1",
            "uniprot_ac": "Q9WUB7",
            "uniprot_id": "CLCKA_MOUSE",
            "refseq_ac": "NP_001139779",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein ClC-Ka",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel Ka",
                    "type": "synonym"
                },
                {
                    "name": "ClC-K1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel K1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel Ka",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein ClC-Ka",
                    "type": "synonym"
                },
                {
                    "name": "putative basolateral cTAL chloride channel ClC-Ka",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcnka",
                    "type": "recommended"
                },
                {
                    "name": "CLC-K1",
                    "type": "synonym"
                },
                {
                    "name": "Clcnk1",
                    "type": "synonym"
                },
                {
                    "name": "Clcnka",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUB7-1",
            "evidence": [
                {
                    "id": "0110144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51801-1",
            "uniprot_ac": "P51801",
            "uniprot_id": "CLCKB_HUMAN",
            "refseq_ac": "NP_000076",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein ClC-Kb",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel Kb",
                    "type": "synonym"
                },
                {
                    "name": "ClC-K2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein ClC-Kb isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein ClC-Kb",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, kidney, B",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive Kb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCNKB",
                    "type": "recommended"
                },
                {
                    "name": "CLCKB",
                    "type": "synonym"
                },
                {
                    "name": "CLCNKB",
                    "type": "synonym"
                },
                {
                    "name": "ClC-K2",
                    "type": "synonym"
                },
                {
                    "name": "ClC-Kb",
                    "type": "synonym"
                }
            ],
            "record_id": "P51801-1",
            "evidence": [
                {
                    "id": "607364",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607364"
                },
                {
                    "id": "0110144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51802-1",
            "uniprot_ac": "P51802",
            "uniprot_id": "CLCKB_RAT",
            "refseq_ac": "NP_775126",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein ClC-Kb",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel Kb",
                    "type": "synonym"
                },
                {
                    "name": "ClC-K2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel K2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel Kb",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein ClC-Kb",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive Kb",
                    "type": "synonym"
                },
                {
                    "name": "clC-K2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcnkb",
                    "type": "recommended"
                },
                {
                    "name": "ClC-K2L",
                    "type": "synonym"
                },
                {
                    "name": "Clck2",
                    "type": "synonym"
                },
                {
                    "name": "Clcnk1l",
                    "type": "synonym"
                },
                {
                    "name": "Clcnkb",
                    "type": "synonym"
                }
            ],
            "record_id": "P51802-1",
            "evidence": [
                {
                    "id": "0110144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63269-1",
            "uniprot_ac": "P63269",
            "uniprot_id": "ACTH_RAT",
            "refseq_ac": "NP_037025",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, gamma-enteric smooth muscle",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-actin-3",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-2-actin",
                    "type": "synonym"
                },
                {
                    "name": "Smooth muscle gamma-actin",
                    "type": "synonym"
                },
                {
                    "name": "actin, gamma 2, smooth muscle, enteric",
                    "type": "synonym"
                },
                {
                    "name": "actin, gamma-enteric smooth muscle",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actin-3",
                    "type": "synonym"
                },
                {
                    "name": "alpha-smooth muscle actin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-2-actin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-enteric smooth muscle actin",
                    "type": "synonym"
                },
                {
                    "name": "smooth muscle gamma-actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actg2",
                    "type": "recommended"
                },
                {
                    "name": "ACTGE",
                    "type": "synonym"
                },
                {
                    "name": "Acta3",
                    "type": "synonym"
                },
                {
                    "name": "Actg2",
                    "type": "synonym"
                },
                {
                    "name": "Actsg",
                    "type": "synonym"
                },
                {
                    "name": "SMGA",
                    "type": "synonym"
                }
            ],
            "record_id": "P63269-1",
            "evidence": [
                {
                    "id": "0110144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68035-1",
            "uniprot_ac": "P68035",
            "uniprot_id": "ACTC_RAT",
            "refseq_ac": "NP_062056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, alpha cardiac muscle 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-cardiac actin",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha cardiac muscle 1",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha, cardiac 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actin cardiac",
                    "type": "synonym"
                },
                {
                    "name": "alpha-cardiac actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actc1",
                    "type": "recommended"
                },
                {
                    "name": "Actc1",
                    "type": "synonym"
                },
                {
                    "name": "Actc",
                    "type": "synonym"
                }
            ],
            "record_id": "P68035-1",
            "evidence": [
                {
                    "id": "0110144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGH7-1",
            "uniprot_ac": "Q9VGH7",
            "uniprot_id": "CLCN2_DROME",
            "refseq_ac": "NP_001097751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG31116-PG",
                    "type": "synonym"
                },
                {
                    "name": "Chloride channel-a",
                    "type": "synonym"
                },
                {
                    "name": "ClC-2",
                    "type": "synonym"
                },
                {
                    "name": "ClC-a-PG",
                    "type": "synonym"
                },
                {
                    "name": "DmClC-2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel-a, isoform G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ClC-a",
                    "type": "recommended"
                },
                {
                    "name": "CG14726",
                    "type": "synonym"
                },
                {
                    "name": "CG31116",
                    "type": "synonym"
                },
                {
                    "name": "CG6942",
                    "type": "synonym"
                },
                {
                    "name": "CLC-2",
                    "type": "synonym"
                },
                {
                    "name": "ClC-a",
                    "type": "synonym"
                },
                {
                    "name": "Clc-a",
                    "type": "synonym"
                },
                {
                    "name": "DmClC-2",
                    "type": "synonym"
                },
                {
                    "name": "DmClC-a",
                    "type": "synonym"
                },
                {
                    "name": "DmClCa",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31116",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31116",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0037951",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGH7-1",
            "evidence": [
                {
                    "id": "0110144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110144"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51800-1",
            "uniprot_ac": "P51800",
            "uniprot_id": "CLCKA_HUMAN",
            "refseq_ac": "NP_001036169",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein ClC-Ka",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel Ka",
                    "type": "synonym"
                },
                {
                    "name": "ClC-K1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel Ka",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein ClC-Ka isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein ClC-Ka",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, kidney, A",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive Ka",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCNKA",
                    "type": "recommended"
                },
                {
                    "name": "CLCK1",
                    "type": "synonym"
                },
                {
                    "name": "CLCNKA",
                    "type": "synonym"
                },
                {
                    "name": "ClC-K1",
                    "type": "synonym"
                },
                {
                    "name": "hClC-Ka",
                    "type": "synonym"
                }
            ],
            "record_id": "P51800-1",
            "evidence": [
                {
                    "id": "0110144",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110144"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110144"
}