{
    "disease_id": "DOID:0070608",
    "recommended_name": {
        "id": "DOID:0070608",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070608",
        "name": "autosomal dominant nonsyndromic deafness 81",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070608",
            "name": "DFNA81",
            "description": ""
        },
        {
            "id": "DOID:0070608",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070608",
            "name": "autosomal dominant deafness 81",
            "description": ""
        },
        {
            "id": "MONDO:0030549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030549",
            "name": "hearing loss, autosomal dominant 81",
            "description": ""
        },
        {
            "id": "MONDO:0030549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030549",
            "name": "DFNA81",
            "description": ""
        },
        {
            "id": "MONDO:0030549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030549",
            "name": "hearing loss, autosomal dominant 81",
            "description": ""
        },
        {
            "id": "MONDO:0030549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030549",
            "name": "deafness, autosomal dominant 81",
            "description": ""
        },
        {
            "id": "MIM:619500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619500",
            "name": "Deafness, autosomal dominant, 81",
            "description": "Deafness, autosomal dominant, 81"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070608"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070608",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070608",
            "categories": []
        },
        {
            "id": "MONDO:0030549",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030549",
            "categories": []
        },
        {
            "id": "MIM:619500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RM58-1",
            "uniprot_ac": "A0A8M1RM58",
            "uniprot_id": "A0A8M1RM58_DANRE",
            "refseq_ac": "XP_003199180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ELMO domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "elmod3",
                    "type": "recommended"
                },
                {
                    "name": "elmod3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RM58-1",
            "evidence": [
                {
                    "id": "0070608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91YP6-1",
            "uniprot_ac": "Q91YP6",
            "uniprot_id": "ELMD3_MOUSE",
            "refseq_ac": "NP_001240621",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ELMO domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ELMO domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif and ELMO domain 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif and ELMO domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elmod3",
                    "type": "recommended"
                },
                {
                    "name": "C330008I15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Elmod3",
                    "type": "synonym"
                },
                {
                    "name": "RBM29",
                    "type": "synonym"
                },
                {
                    "name": "Rbed1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YP6-1",
            "evidence": [
                {
                    "id": "0070608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96FG2-1",
            "uniprot_ac": "Q96FG2",
            "uniprot_id": "ELMD3_HUMAN",
            "refseq_ac": "NP_001128493",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ELMO domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ELMO domain-containing protein 3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "ELMO/CED-12 domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif and ELMO/CED-12 domain 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif and ELMO domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein 29",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 29",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 88",
                    "type": "synonym"
                },
                {
                    "name": "liver-specific organic anion transporter 3TM12",
                    "type": "synonym"
                },
                {
                    "name": "organic anion transporter LST-3b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELMOD3",
                    "type": "recommended"
                },
                {
                    "name": "DFNA81",
                    "type": "synonym"
                },
                {
                    "name": "DFNB88",
                    "type": "synonym"
                },
                {
                    "name": "ELMOD3",
                    "type": "synonym"
                },
                {
                    "name": "LST3",
                    "type": "synonym"
                },
                {
                    "name": "PP4068",
                    "type": "synonym"
                },
                {
                    "name": "RBED1",
                    "type": "synonym"
                },
                {
                    "name": "RBM29",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96FG2-1",
            "evidence": [
                {
                    "id": "619500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619500"
                },
                {
                    "id": "0070608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070608"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIQ2-1",
            "uniprot_ac": "Q5XIQ2",
            "uniprot_id": "ELMD3_RAT",
            "refseq_ac": "NP_001013105",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ELMO domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ELMO domain-containing protein 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ELMO domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ELMO/CED-12 domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "RNA binding motif and ELMO domain 1",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif and ELMO domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel modulatory factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elmod3",
                    "type": "recommended"
                },
                {
                    "name": "Elmod3",
                    "type": "synonym"
                },
                {
                    "name": "Kcmf1",
                    "type": "synonym"
                },
                {
                    "name": "Rbed1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIQ2-1",
            "evidence": [
                {
                    "id": "0070608",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070608"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070608"
}