{
    "disease_id": "DOID:0110494",
    "recommended_name": {
        "id": "DOID:0110494",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110494",
        "name": "autosomal recessive nonsyndromic deafness 36",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110494",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110494",
            "name": "DFNB36",
            "description": ""
        },
        {
            "id": "DOID:0110494",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110494",
            "name": "autosomal recessive deafness 36",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "autosomal recessive nonsyndromic hearing loss 36",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene."
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "autosomal recessive nonsyndromic hearing loss 36",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "deafness, neurosensory, without vestibular involvement, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "DFNB36",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "ESPN autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "autosomal recessive deafness 36",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "autosomal recessive nonsyndromic deafness 36",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in ESPN",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "autosomal recessive nonsyndromic deafness type 36",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "deafness, autosomal dominant, without vestibular involvement",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "deafness, autosomal recessive 36",
            "description": ""
        },
        {
            "id": "MONDO:0012170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "name": "deafness, autosomal recessive 36, with or without vestibular involvement",
            "description": ""
        },
        {
            "id": "MIM:609006",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609006",
            "name": "Deafness, autosomal recessive, 36, with or without vestibular involvement",
            "description": "Deafness, autosomal recessive, 36, with or without vestibular involvement"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110494"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110494",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110494",
            "categories": []
        },
        {
            "id": "MONDO:0012170",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012170",
            "categories": []
        },
        {
            "id": "MIM:609006",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609006",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58G7W5-1",
            "uniprot_ac": "A0AC58G7W5",
            "uniprot_id": "A0AC58G7W5_DANRE",
            "refseq_ac": "XP_073765811",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Espin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "espin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "espn",
                    "type": "recommended"
                },
                {
                    "name": "espn",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-77h17.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G7W5-1",
            "evidence": [
                {
                    "id": "0110494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58HHM4-1",
            "uniprot_ac": "A0AC58HHM4",
            "uniprot_id": "A0AC58HHM4_DANRE",
            "refseq_ac": "XP_073781447",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Espin-like protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "espin-like protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "espnlb",
                    "type": "recommended"
                },
                {
                    "name": "espnlb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HHM4-1",
            "evidence": [
                {
                    "id": "0110494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ET47-1",
            "uniprot_ac": "Q9ET47",
            "uniprot_id": "ESPN_MOUSE",
            "refseq_ac": "NP_997570",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Espin",
                    "type": "recommended"
                },
                {
                    "name": "Ectoplasmic specialization protein",
                    "type": "synonym"
                },
                {
                    "name": "actin cytoskeletal regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "ectoplasmic specialization protein",
                    "type": "synonym"
                },
                {
                    "name": "espin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "jerker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Espn",
                    "type": "recommended"
                },
                {
                    "name": "Espn",
                    "type": "synonym"
                },
                {
                    "name": "je",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ET47-1",
            "evidence": [
                {
                    "id": "0110494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UYR4-1",
            "uniprot_ac": "Q3UYR4",
            "uniprot_id": "ESPNL_MOUSE",
            "refseq_ac": "NP_001028464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Espin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "espin-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Espnl",
                    "type": "recommended"
                },
                {
                    "name": "Espnl",
                    "type": "synonym"
                },
                {
                    "name": "Gm556",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UYR4-1",
            "evidence": [
                {
                    "id": "0110494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1AK53-1",
            "uniprot_ac": "B1AK53",
            "uniprot_id": "ESPN_HUMAN",
            "refseq_ac": "NP_113663",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Espin",
                    "type": "recommended"
                },
                {
                    "name": "Autosomal recessive deafness type 36 protein",
                    "type": "synonym"
                },
                {
                    "name": "Ectoplasmic specialization protein",
                    "type": "synonym"
                },
                {
                    "name": "autosomal recessive deafness type 36 protein",
                    "type": "synonym"
                },
                {
                    "name": "ectoplasmic specialization protein",
                    "type": "synonym"
                },
                {
                    "name": "espin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ESPN",
                    "type": "recommended"
                },
                {
                    "name": "DFNA91",
                    "type": "synonym"
                },
                {
                    "name": "DFNB36",
                    "type": "synonym"
                },
                {
                    "name": "ESPN",
                    "type": "synonym"
                },
                {
                    "name": "LP2654",
                    "type": "synonym"
                },
                {
                    "name": "USH1M",
                    "type": "synonym"
                }
            ],
            "record_id": "B1AK53-1",
            "evidence": [
                {
                    "id": "609006",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609006"
                },
                {
                    "id": "0110494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63618-1",
            "uniprot_ac": "Q63618",
            "uniprot_id": "ESPN_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Espin",
                    "type": "recommended"
                },
                {
                    "name": "Ectoplasmic specialization protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Espn",
                    "type": "recommended"
                }
            ],
            "record_id": "Q63618-1",
            "evidence": [
                {
                    "id": "0110494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZGJ2-1",
            "uniprot_ac": "D3ZGJ2",
            "uniprot_id": "D3ZGJ2_RAT",
            "refseq_ac": "NP_001178741",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Espin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "espin-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Espnl",
                    "type": "recommended"
                },
                {
                    "name": "Espnl",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562432",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZGJ2-1",
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                {
                    "id": "0110494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KHR2-1",
            "uniprot_ac": "Q0KHR2",
            "uniprot_id": "Q0KHR2_DROME",
            "refseq_ac": "NP_001036284",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42864-PF",
                    "type": "synonym"
                },
                {
                    "name": "Forked, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "f-PF",
                    "type": "synonym"
                },
                {
                    "name": "forked, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "forked",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "f",
                    "type": "recommended"
                },
                {
                    "name": "CG12996",
                    "type": "synonym"
                },
                {
                    "name": "CG42864",
                    "type": "synonym"
                },
                {
                    "name": "CG5424",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42864",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42864",
                    "type": "synonym"
                },
                {
                    "name": "X1",
                    "type": "synonym"
                },
                {
                    "name": "f",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KHR2-1",
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                {
                    "id": "0110494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZVH7-1",
            "uniprot_ac": "Q6ZVH7",
            "uniprot_id": "ESPNL_HUMAN",
            "refseq_ac": "NP_001295299",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Espin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "espin-like protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "espin-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ESPNL",
                    "type": "recommended"
                },
                {
                    "name": "ESPNL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZVH7-1",
            "evidence": [
                {
                    "id": "0110494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110494"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110494"
}