{
    "disease_id": "DOID:0110575",
    "recommended_name": {
        "id": "DOID:0110575",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110575",
        "name": "autosomal dominant nonsyndromic deafness 5",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110575",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110575",
            "name": "DFNA5",
            "description": ""
        },
        {
            "id": "DOID:0110575",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110575",
            "name": "autosomal dominant deafness 5",
            "description": ""
        },
        {
            "id": "MONDO:0010973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "name": "autosomal dominant nonsyndromic hearing loss 5",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene."
        },
        {
            "id": "MONDO:0010973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "name": "DFNA5",
            "description": ""
        },
        {
            "id": "MONDO:0010973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "name": "GSDME autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "name": "autosomal dominant deafness 5",
            "description": ""
        },
        {
            "id": "MONDO:0010973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "name": "autosomal dominant nonsyndromic deafness 5",
            "description": ""
        },
        {
            "id": "MONDO:0010973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in GSDME",
            "description": ""
        },
        {
            "id": "MONDO:0010973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "name": "autosomal dominant nonsyndromic deafness type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "name": "deafness, autosomal dominant 5",
            "description": ""
        },
        {
            "id": "MONDO:0010973",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "name": "deafness, autosomal dominant type 5",
            "description": ""
        },
        {
            "id": "MIM:600994",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600994",
            "name": "Deafness, autosomal dominant, 5",
            "description": "Deafness, autosomal dominant, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110575"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110575",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110575",
            "categories": []
        },
        {
            "id": "MONDO:0010973",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010973",
            "categories": []
        },
        {
            "id": "MIM:600994",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600994",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F9U2-1",
            "uniprot_ac": "E7F9U2",
            "uniprot_id": "E7F9U2_DANRE",
            "refseq_ac": "XP_005170134",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gasdermin-E",
                    "type": "synonym"
                },
                {
                    "name": "gasdermin-E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gsdmea",
                    "type": "recommended"
                },
                {
                    "name": "gsdmea",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F9U2-1",
            "evidence": [
                {
                    "id": "0110575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2D3-1",
            "uniprot_ac": "Q9Z2D3",
            "uniprot_id": "GSDME_MOUSE",
            "refseq_ac": "NP_061239",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gasdermin-E",
                    "type": "recommended"
                },
                {
                    "name": "Non-syndromic hearing impairment protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "deafness associated tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal dominant 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "gasdermin-E precursor",
                    "type": "synonym"
                },
                {
                    "name": "non-syndromic hearing impairment protein 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gsdme",
                    "type": "recommended"
                },
                {
                    "name": "2310037D07Rik",
                    "type": "synonym"
                },
                {
                    "name": "4932441K13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dfna5h",
                    "type": "synonym"
                },
                {
                    "name": "Dfna5",
                    "type": "synonym"
                },
                {
                    "name": "EG14210",
                    "type": "synonym"
                },
                {
                    "name": "Fin15",
                    "type": "synonym"
                },
                {
                    "name": "Gsdme",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2D3-1",
            "evidence": [
                {
                    "id": "0110575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60443-1",
            "uniprot_ac": "O60443",
            "uniprot_id": "GSDME_HUMAN",
            "refseq_ac": "NP_001120925",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gasdermin-E",
                    "type": "recommended"
                },
                {
                    "name": "DFNA5, deafness associated tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "ICERE-1",
                    "type": "synonym"
                },
                {
                    "name": "Inversely correlated with estrogen receptor expression 1",
                    "type": "synonym"
                },
                {
                    "name": "Non-syndromic hearing impairment protein 5",
                    "type": "synonym"
                },
                {
                    "name": "gasdermin-E isoform a",
                    "type": "synonym"
                },
                {
                    "name": "inversely correlated with estrogen receptor expression 1",
                    "type": "synonym"
                },
                {
                    "name": "non-syndromic hearing impairment protein 5",
                    "type": "synonym"
                },
                {
                    "name": "nonsyndromic hearing impairment protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GSDME",
                    "type": "recommended"
                },
                {
                    "name": "DFNA5",
                    "type": "synonym"
                },
                {
                    "name": "GSDME",
                    "type": "synonym"
                },
                {
                    "name": "ICERE-1",
                    "type": "synonym"
                },
                {
                    "name": "ICERE1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60443-1",
            "evidence": [
                {
                    "id": "600994",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600994"
                },
                {
                    "id": "0110575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAG0-1",
            "uniprot_ac": "F1MAG0",
            "uniprot_id": "F1MAG0_RAT",
            "refseq_ac": "XP_038963654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DFNA5, deafness associated tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "Gasdermin E",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal dominant 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "gasdermin-E isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "non-syndromic hearing impairment protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gsdme",
                    "type": "recommended"
                },
                {
                    "name": "Dfna5h",
                    "type": "synonym"
                },
                {
                    "name": "Dfna5",
                    "type": "synonym"
                },
                {
                    "name": "Gsdme",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAG0-1",
            "evidence": [
                {
                    "id": "0110575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110575"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22449-1",
            "uniprot_ac": "P22449",
            "uniprot_id": "HNF4A_RAT",
            "refseq_ac": "NP_071516",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 4-alpha",
                    "type": "recommended"
                },
                {
                    "name": "HNF-4-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 2 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "TCF-14",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 14",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor HNF-4",
                    "type": "synonym"
                },
                {
                    "name": "alpha transcription factor 4",
                    "type": "synonym"
                },
                {
                    "name": "hepatic nuclear factor 4, alpha",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 4-alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 2 group A member 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor 14",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor HNF-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnf4a",
                    "type": "recommended"
                },
                {
                    "name": "Hnf-4",
                    "type": "synonym"
                },
                {
                    "name": "Hnf4alpha",
                    "type": "synonym"
                },
                {
                    "name": "Hnf4a",
                    "type": "synonym"
                },
                {
                    "name": "Hnf4",
                    "type": "synonym"
                },
                {
                    "name": "Nr2a1",
                    "type": "synonym"
                },
                {
                    "name": "Tcf14",
                    "type": "synonym"
                }
            ],
            "record_id": "P22449-1",
            "evidence": [
                {
                    "id": "0110575",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110575"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110575"
}