{
    "disease_id": "DOID:0070603",
    "recommended_name": {
        "id": "DOID:0070603",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070603",
        "name": "autosomal dominant nonsyndromic deafness 82",
        "description": "An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070603",
            "name": "DFNA82",
            "description": ""
        },
        {
            "id": "DOID:0070603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070603",
            "name": "autosomal dominant deafness 82",
            "description": ""
        },
        {
            "id": "MONDO:0030719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030719",
            "name": "hearing loss, autosomal dominant 82",
            "description": ""
        },
        {
            "id": "MONDO:0030719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030719",
            "name": "DFNA82",
            "description": ""
        },
        {
            "id": "MONDO:0030719",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030719",
            "name": "deafness, autosomal dominant 82",
            "description": ""
        },
        {
            "id": "MIM:619804",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619804",
            "name": "Deafness, autosomal dominant, 82",
            "description": "Deafness, autosomal dominant, 82"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070603"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070603",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070603",
            "categories": []
        },
        {
            "id": "MONDO:0030719",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030719",
            "categories": []
        },
        {
            "id": "MIM:619804",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619804",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9R0K7-1",
            "uniprot_ac": "Q9R0K7",
            "uniprot_id": "AT2B2_MOUSE",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma membrane calcium-transporting ATPase 2",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "PMCA2",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium ATPase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium pump isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "deaf waddler",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium pump",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 2",
                    "type": "synonym"
                },
                {
                    "name": "wriggle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp2b2",
                    "type": "recommended"
                },
                {
                    "name": "Atp2b2",
                    "type": "synonym"
                },
                {
                    "name": "D6Abb2e",
                    "type": "synonym"
                },
                {
                    "name": "Gena300",
                    "type": "synonym"
                },
                {
                    "name": "PMCA2",
                    "type": "synonym"
                },
                {
                    "name": "Pmca2",
                    "type": "synonym"
                },
                {
                    "name": "Tmy",
                    "type": "synonym"
                },
                {
                    "name": "dfw",
                    "type": "synonym"
                },
                {
                    "name": "jog",
                    "type": "synonym"
                },
                {
                    "name": "wms",
                    "type": "synonym"
                },
                {
                    "name": "wri",
                    "type": "synonym"
                }
            ],
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                    "id": "0070603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01814-1",
            "uniprot_ac": "Q01814",
            "uniprot_id": "AT2B2_HUMAN",
            "refseq_ac": "NP_001001331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Plasma membrane calcium-transporting ATPase 2",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Ca++ transporting, plasma membrane 2",
                    "type": "synonym"
                },
                {
                    "name": "PMCA2",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium ATPase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium pump isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane Ca(2+)-ATPase",
                    "type": "synonym"
                },
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                    "name": "plasma membrane Ca2+ pump 2",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium ATPase",
                    "type": "synonym"
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                {
                    "name": "plasma membrane calcium pump",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ATP2B2",
                    "type": "recommended"
                },
                {
                    "name": "ATP2B2",
                    "type": "synonym"
                },
                {
                    "name": "DFNA82",
                    "type": "synonym"
                },
                {
                    "name": "PMCA2a",
                    "type": "synonym"
                },
                {
                    "name": "PMCA2i",
                    "type": "synonym"
                },
                {
                    "name": "PMCA2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01814-1",
            "evidence": [
                {
                    "id": "619804",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619804"
                },
                {
                    "id": "0070603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38929-1",
            "uniprot_ac": "P38929",
            "uniprot_id": "ATC2_YEAST",
            "refseq_ac": "NP_011509",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-transporting ATPase 2",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar Ca(2+)-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "calcium-transporting ATPase PMC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMC1",
                    "type": "recommended"
                },
                {
                    "name": "PMC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38929-1",
            "evidence": [
                {
                    "id": "0070603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11506-13",
            "uniprot_ac": "P11506",
            "uniprot_id": "AT2B2_RAT",
            "refseq_ac": "NP_036640",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma membrane calcium-transporting ATPase 2",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Ca++ transporting, plasma membrane 2",
                    "type": "synonym"
                },
                {
                    "name": "PMCA2",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium ATPase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium pump isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane Ca++-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium pump",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp2b2",
                    "type": "recommended"
                },
                {
                    "name": "Atp2b2",
                    "type": "synonym"
                },
                {
                    "name": "PMCA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P11506-13",
            "evidence": [
                {
                    "id": "0070603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q59DP9-1",
            "uniprot_ac": "Q59DP9",
            "uniprot_id": "Q59DP9_DROME",
            "refseq_ac": "NP_001014689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "CG42314-PM",
                    "type": "synonym"
                },
                {
                    "name": "PMCA-PM",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane Ca2+ ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane Ca[2+] ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium ATPase, isoform M",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMCA",
                    "type": "recommended"
                },
                {
                    "name": "BEST:CK01140",
                    "type": "synonym"
                },
                {
                    "name": "BEST:CK02288",
                    "type": "synonym"
                },
                {
                    "name": "BEST:CK",
                    "type": "synonym"
                },
                {
                    "name": "BP1021",
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                },
                {
                    "name": "CG2165",
                    "type": "synonym"
                },
                {
                    "name": "CG34036",
                    "type": "synonym"
                },
                {
                    "name": "CG42314",
                    "type": "synonym"
                },
                {
                    "name": "CK02288",
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                {
                    "name": "Dmel\\CG42314",
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                {
                    "name": "Dmel_CG42314",
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                    "name": "PMCA",
                    "type": "synonym"
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            ],
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                    "id": "0070603",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UQ52-1",
            "uniprot_ac": "Q9UQ52",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-6",
                    "type": "recommended"
                },
                {
                    "name": "Neural recognition molecule NB-3",
                    "type": "synonym"
                },
                {
                    "name": "contactin-6 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hNB-3",
                    "type": "synonym"
                },
                {
                    "name": "neural adhesion molecule",
                    "type": "synonym"
                },
                {
                    "name": "neural recognition molecule NB-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNTN6",
                    "type": "recommended"
                },
                {
                    "name": "CNTN6",
                    "type": "synonym"
                },
                {
                    "name": "NB3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UQ52-1",
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                {
                    "id": "0070603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070603"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070603"
}