{
    "disease_id": "DOID:0080720",
    "recommended_name": {
        "id": "DOID:0080720",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080720",
        "name": "autosomal dominant congenital deafness with onychodystrophy",
        "description": "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "autosomal dominant deafness - onychodystrophy syndrome",
            "description": "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges."
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "DDOD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "autosomal dominant deafness-onychodystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "deafness-onychodystrophy syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "DDOD",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "Robinson Miller Bensimon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "Robinson-Miller-Bensimon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "deafness and onychodystrophy, dominant form",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "deafness, congenital, and onychodystrophy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007420",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "name": "familial ectodermal dysplasia with sensori-neural deafness and other anomalies",
            "description": ""
        },
        {
            "id": "MIM:124480",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/124480",
            "name": "Deafness, congenital, with onychodystrophy, autosomal dominant",
            "description": "Deafness, congenital, with onychodystrophy, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080720"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080720",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080720",
            "categories": []
        },
        {
            "id": "MONDO:0007420",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007420",
            "categories": []
        },
        {
            "id": "MIM:124480",
            "database": "MIM",
            "url": "https://www.omim.org/entry/124480",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62814-1",
            "uniprot_ac": "P62814",
            "uniprot_id": "VATB2_MOUSE",
            "refseq_ac": "NP_031535",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit B, brain isoform",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, V1 subunit B",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal 56/58kD, V1 subunit B",
                    "type": "synonym"
                },
                {
                    "name": "Endomembrane proton pump 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit B 2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit B, brain isoform",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit B 2",
                    "type": "synonym"
                },
                {
                    "name": "endomembrane proton pump 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal 56/58kDa",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit B 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6v1b2",
                    "type": "recommended"
                },
                {
                    "name": "Atp6b2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6v1b2",
                    "type": "synonym"
                },
                {
                    "name": "HO57",
                    "type": "synonym"
                },
                {
                    "name": "Vat2",
                    "type": "synonym"
                }
            ],
            "record_id": "P62814-1",
            "evidence": [
                {
                    "id": "0080720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21281-1",
            "uniprot_ac": "P21281",
            "uniprot_id": "VATB2_HUMAN",
            "refseq_ac": "NP_001684",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit B, brain isoform",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2",
                    "type": "synonym"
                },
                {
                    "name": "Endomembrane proton pump 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "H+ transporting two-sector ATPase",
                    "type": "synonym"
                },
                {
                    "name": "HO57",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase B2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit B 2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit B, brain isoform",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit B 2",
                    "type": "synonym"
                },
                {
                    "name": "endomembrane proton pump 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 65",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H+-ATPase 56,000 subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit B 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP6V1B2",
                    "type": "recommended"
                },
                {
                    "name": "ATP6B1B2",
                    "type": "synonym"
                },
                {
                    "name": "ATP6B2",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V1B2",
                    "type": "synonym"
                },
                {
                    "name": "DOOD",
                    "type": "synonym"
                },
                {
                    "name": "HO57",
                    "type": "synonym"
                },
                {
                    "name": "VATB",
                    "type": "synonym"
                },
                {
                    "name": "VPP3",
                    "type": "synonym"
                },
                {
                    "name": "Vma2",
                    "type": "synonym"
                },
                {
                    "name": "ZLS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21281-1",
            "evidence": [
                {
                    "id": "124480",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/124480"
                },
                {
                    "id": "0080720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16140-1",
            "uniprot_ac": "P16140",
            "uniprot_id": "VATB_YEAST",
            "refseq_ac": "NP_009685",
            "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": "V-type proton ATPase subunit B",
                    "type": "recommended"
                },
                {
                    "name": "H(+)-transporting V1 sector ATPase subunit B",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 57 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit B",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMA2",
                    "type": "recommended"
                },
                {
                    "name": "VAT2",
                    "type": "synonym"
                },
                {
                    "name": "VMA2",
                    "type": "synonym"
                },
                {
                    "name": "YBR1002",
                    "type": "synonym"
                }
            ],
            "record_id": "P16140-1",
            "evidence": [
                {
                    "id": "0080720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62815-1",
            "uniprot_ac": "P62815",
            "uniprot_id": "VATB2_RAT",
            "refseq_ac": "NP_476561",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit B, brain isoform",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H transporting, lysosomal V1 subunit B2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, V1 subunit B",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Endomembrane proton pump 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit B 2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit B, brain isoform",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit B 2",
                    "type": "synonym"
                },
                {
                    "name": "endomembrane proton pump 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H+ATPase B2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit B 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6v1b2",
                    "type": "recommended"
                },
                {
                    "name": "Atp6b1b2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6b2",
                    "type": "synonym"
                },
                {
                    "name": "Atp6v1b2",
                    "type": "synonym"
                },
                {
                    "name": "Vat2",
                    "type": "synonym"
                },
                {
                    "name": "Vatb",
                    "type": "synonym"
                }
            ],
            "record_id": "P62815-1",
            "evidence": [
                {
                    "id": "0080720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080720"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31409-1",
            "uniprot_ac": "P31409",
            "uniprot_id": "VATB_DROME",
            "refseq_ac": "NP_001163597",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit B",
                    "type": "recommended"
                },
                {
                    "name": "B subunit of V-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "CG17369-PC",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 55 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase B-subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit B",
                    "type": "synonym"
                },
                {
                    "name": "V1 B subunit",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit B",
                    "type": "synonym"
                },
                {
                    "name": "Vha55-PC",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATP synthase subunit B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase B subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H+-ATPase 55kD B subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H+ATPase subunit B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+]-ATPase 55-kDa B subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+]-ATPase 55kD B subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+]-ATPase 55kD subunit, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha55",
                    "type": "recommended"
                },
                {
                    "name": "1208/13",
                    "type": "synonym"
                },
                {
                    "name": "13",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V1B1",
                    "type": "synonym"
                },
                {
                    "name": "CG17369",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17369",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17369",
                    "type": "synonym"
                },
                {
                    "name": "SzA",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "V-type H+-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "VAT-2",
                    "type": "synonym"
                },
                {
                    "name": "VA",
                    "type": "synonym"
                },
                {
                    "name": "Vha55",
                    "type": "synonym"
                },
                {
                    "name": "l(3)87Ca",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SzA",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j2E9",
                    "type": "synonym"
                },
                {
                    "name": "v-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "vha55",
                    "type": "synonym"
                }
            ],
            "record_id": "P31409-1",
            "evidence": [
                {
                    "id": "0080720",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080720"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080720"
}