{
    "disease_id": "DOID:0110585",
    "recommended_name": {
        "id": "DOID:0110585",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110585",
        "name": "autosomal dominant nonsyndromic deafness 64",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110585",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110585",
            "name": "DFNA64",
            "description": ""
        },
        {
            "id": "DOID:0110585",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110585",
            "name": "autosomal dominant deafness 64",
            "description": ""
        },
        {
            "id": "MONDO:0013593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "name": "autosomal dominant nonsyndromic hearing loss 64",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene."
        },
        {
            "id": "MONDO:0013593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "name": "DFNA64",
            "description": ""
        },
        {
            "id": "MONDO:0013593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "name": "DIABLO autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "name": "autosomal dominant deafness 64",
            "description": ""
        },
        {
            "id": "MONDO:0013593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "name": "autosomal dominant nonsyndromic deafness 64",
            "description": ""
        },
        {
            "id": "MONDO:0013593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in DIABLO",
            "description": ""
        },
        {
            "id": "MONDO:0013593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "name": "autosomal dominant nonsyndromic deafness type 64",
            "description": ""
        },
        {
            "id": "MONDO:0013593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "name": "deafness, autosomal dominant 64",
            "description": ""
        },
        {
            "id": "MONDO:0013593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "name": "deafness, autosomal dominant type 64",
            "description": ""
        },
        {
            "id": "MIM:614152",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614152",
            "name": "Deafness, autosomal dominant, 64",
            "description": "Deafness, autosomal dominant, 64"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110585"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110585",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110585",
            "categories": []
        },
        {
            "id": "MONDO:0013593",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013593",
            "categories": []
        },
        {
            "id": "MIM:614152",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614152",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NZ47-1",
            "uniprot_ac": "A0A8M1NZ47",
            "uniprot_id": "A0A8M1NZ47_DANRE",
            "refseq_ac": "NP_001229963",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Direct IAP-binding protein with low pI",
                    "type": "recommended"
                },
                {
                    "name": "diablo homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "diablo, IAP-binding mitochondrial protein b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "diablob",
                    "type": "recommended"
                },
                {
                    "name": "diablob",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158776",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NZ47-1",
            "evidence": [
                {
                    "id": "0110585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIQ3-1",
            "uniprot_ac": "Q9JIQ3",
            "uniprot_id": "DBLOH_MOUSE",
            "refseq_ac": "NP_075721",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diablo IAP-binding mitochondrial protein",
                    "type": "recommended"
                },
                {
                    "name": "Diablo homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Direct IAP-binding protein with low pI",
                    "type": "synonym"
                },
                {
                    "name": "Second mitochondria-derived activator of caspase",
                    "type": "synonym"
                },
                {
                    "name": "Smac",
                    "type": "synonym"
                },
                {
                    "name": "diablo IAP-binding mitochondrial protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "diablo homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "direct IAP binding protein with low PI",
                    "type": "synonym"
                },
                {
                    "name": "direct IAP-binding protein with low pI",
                    "type": "synonym"
                },
                {
                    "name": "second mitochondria-derived activator of caspase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Diablo",
                    "type": "recommended"
                },
                {
                    "name": "0610041G12Rik",
                    "type": "synonym"
                },
                {
                    "name": "1700006L01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Diablo",
                    "type": "synonym"
                },
                {
                    "name": "Smac",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIQ3-1",
            "evidence": [
                {
                    "id": "0110585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NR28-1",
            "uniprot_ac": "Q9NR28",
            "uniprot_id": "DBLOH_HUMAN",
            "refseq_ac": "NP_001265231",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diablo IAP-binding mitochondrial protein",
                    "type": "recommended"
                },
                {
                    "name": "Diablo homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Direct IAP-binding protein with low pI",
                    "type": "synonym"
                },
                {
                    "name": "SMAC",
                    "type": "synonym"
                },
                {
                    "name": "Second mitochondria-derived activator of caspases",
                    "type": "synonym"
                },
                {
                    "name": "diablo IAP-binding mitochondrial protein isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "diablo homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "diablo-like protein",
                    "type": "synonym"
                },
                {
                    "name": "direct IAP-binding protein with low pI",
                    "type": "synonym"
                },
                {
                    "name": "second mitochondria-derived activator of caspases",
                    "type": "synonym"
                },
                {
                    "name": "second mitochondria-derived activator of caspase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DIABLO",
                    "type": "recommended"
                },
                {
                    "name": "DFNA64",
                    "type": "synonym"
                },
                {
                    "name": "DIABLO",
                    "type": "synonym"
                },
                {
                    "name": "SMAC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NR28-1",
            "evidence": [
                {
                    "id": "614152",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614152"
                },
                {
                    "id": "0110585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7Z5-1",
            "uniprot_ac": "D4A7Z5",
            "uniprot_id": "D4A7Z5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diablo IAP-binding mitochondrial protein",
                    "type": "recommended"
                },
                {
                    "name": "Diablo homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Direct IAP-binding protein with low pI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Diablol1",
                    "type": "recommended"
                },
                {
                    "name": "Diablo",
                    "type": "recommended"
                },
                {
                    "name": "Diablo",
                    "type": "synonym"
                },
                {
                    "name": "LOC100360940",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7Z5-1",
            "evidence": [
                {
                    "id": "0110585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110585"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110585"
}