{
    "disease_id": "DOID:0112159",
    "recommended_name": {
        "id": "DOID:0112159",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112159",
        "name": "autosomal dominant nonsyndromic deafness 78",
        "description": "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112159",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112159",
            "name": "DFNA78",
            "description": ""
        },
        {
            "id": "MONDO:0033665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033665",
            "name": "hearing loss, autosomal dominant 78",
            "description": ""
        },
        {
            "id": "MONDO:0033665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033665",
            "name": "DFNA78",
            "description": ""
        },
        {
            "id": "MONDO:0033665",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033665",
            "name": "deafness, autosomal dominant 78",
            "description": ""
        },
        {
            "id": "MIM:619081",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619081",
            "name": "Deafness, autosomal dominant, 78",
            "description": "Deafness, autosomal dominant, 78"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112159"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112159",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112159",
            "categories": []
        },
        {
            "id": "MONDO:0033665",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033665",
            "categories": []
        },
        {
            "id": "MIM:619081",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619081",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0G2KTI4-1",
            "uniprot_ac": "A0A0G2KTI4",
            "uniprot_id": "S12A2_DANRE",
            "refseq_ac": "NP_001002080",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 2",
                    "type": "recommended"
                },
                {
                    "name": "BSC2",
                    "type": "synonym"
                },
                {
                    "name": "Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "NKCC1",
                    "type": "synonym"
                },
                {
                    "name": "Na-K-Cl cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "little ears",
                    "type": "synonym"
                },
                {
                    "name": "lte",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (potassium/chloride transporters), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (potassium/chloride transporters), member 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (sodium/potassium/chloride transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zfnkcc1",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000000537",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc12a2",
                    "type": "recommended"
                },
                {
                    "name": "BSC2",
                    "type": "synonym"
                },
                {
                    "name": "NKCC1",
                    "type": "synonym"
                },
                {
                    "name": "nkcc1",
                    "type": "synonym"
                },
                {
                    "name": "slc12a2",
                    "type": "synonym"
                },
                {
                    "name": "slc12a4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85961",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KTI4-1",
            "evidence": [
                {
                    "id": "0112159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55012-1",
            "uniprot_ac": "P55012",
            "uniprot_id": "S12A2_MOUSE",
            "refseq_ac": "NP_033220",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 2",
                    "type": "recommended"
                },
                {
                    "name": "BSC2",
                    "type": "synonym"
                },
                {
                    "name": "Basolateral Na-K-Cl symporter",
                    "type": "synonym"
                },
                {
                    "name": "Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Na-K-2Cl cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "basolateral Na-K-Cl symporter",
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                },
                {
                    "name": "bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "mNKCC1",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/chloride cotransporters",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium/chloride transporters",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc12a2",
                    "type": "recommended"
                },
                {
                    "name": "9330166H04Rik",
                    "type": "synonym"
                },
                {
                    "name": "BSC2",
                    "type": "synonym"
                },
                {
                    "name": "Nkcc1",
                    "type": "synonym"
                },
                {
                    "name": "Slc12a2",
                    "type": "synonym"
                },
                {
                    "name": "mBSC2",
                    "type": "synonym"
                },
                {
                    "name": "mNKCC1",
                    "type": "synonym"
                },
                {
                    "name": "sy-ns",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0112159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P55011-1",
            "uniprot_ac": "P55011",
            "uniprot_id": "S12A2_HUMAN",
            "refseq_ac": "NP_001037",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 2",
                    "type": "recommended"
                },
                {
                    "name": "BSC2",
                    "type": "synonym"
                },
                {
                    "name": "Basolateral Na-K-Cl symporter",
                    "type": "synonym"
                },
                {
                    "name": "Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Na-K-2Cl cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "basolateral Na-K-Cl symporter",
                    "type": "synonym"
                },
                {
                    "name": "bumetanide-sensitive cotransporter type 2",
                    "type": "synonym"
                },
                {
                    "name": "bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "hNKCC1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 141",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (sodium/potassium/chloride transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (sodium/potassium/chloride transporters), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC12A2",
                    "type": "recommended"
                },
                {
                    "name": "BSC-2",
                    "type": "synonym"
                },
                {
                    "name": "BSC2",
                    "type": "synonym"
                },
                {
                    "name": "BSC",
                    "type": "synonym"
                },
                {
                    "name": "CCC1",
                    "type": "synonym"
                },
                {
                    "name": "KILQS",
                    "type": "synonym"
                },
                {
                    "name": "NKCC1",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R141",
                    "type": "synonym"
                },
                {
                    "name": "SLC12A2",
                    "type": "synonym"
                },
                {
                    "name": "hNKCC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P55011-1",
            "evidence": [
                {
                    "id": "619081",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619081"
                },
                {
                    "id": "0112159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PTX9-1",
            "uniprot_ac": "E9PTX9",
            "uniprot_id": "E9PTX9_RAT",
            "refseq_ac": "NP_113986",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (sodium/potassium/chloride transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (sodium/potassium/chloride transporters), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc12a2",
                    "type": "recommended"
                },
                {
                    "name": "Bsc2",
                    "type": "synonym"
                },
                {
                    "name": "Nkcc1",
                    "type": "synonym"
                },
                {
                    "name": "Slc12a2",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PTX9-1",
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                {
                    "id": "0112159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112159"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI37-1",
            "uniprot_ac": "M9PI37",
            "uniprot_id": "M9PI37_DROME",
            "refseq_ac": "NP_001261758",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4357-PE",
                    "type": "synonym"
                },
                {
                    "name": "Ncc69-PE",
                    "type": "synonym"
                },
                {
                    "name": "Sodium chloride cotransporter 69, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "sodium chloride cotransporter 69, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ncc69",
                    "type": "recommended"
                },
                {
                    "name": "BEST:CK01027",
                    "type": "synonym"
                },
                {
                    "name": "CG43567",
                    "type": "synonym"
                },
                {
                    "name": "CG4357",
                    "type": "synonym"
                },
                {
                    "name": "CK01027",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4357",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4357",
                    "type": "synonym"
                },
                {
                    "name": "NCC69",
                    "type": "synonym"
                },
                {
                    "name": "NKCC",
                    "type": "synonym"
                },
                {
                    "name": "Ncc69",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_25302",
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                },
                {
                    "name": "ncc69",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0112159",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112159"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112159"
}