{
    "disease_id": "DOID:0110569",
    "recommended_name": {
        "id": "DOID:0110569",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110569",
        "name": "autosomal dominant nonsyndromic deafness 44",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28."
    },
    "synonyms": [
        {
            "id": "DOID:0110569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110569",
            "name": "DFNA44",
            "description": ""
        },
        {
            "id": "DOID:0110569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110569",
            "name": "autosomal dominant deafness 44",
            "description": ""
        },
        {
            "id": "MONDO:0011832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "name": "autosomal dominant nonsyndromic hearing loss 44",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene."
        },
        {
            "id": "MONDO:0011832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "name": "CCDC50 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "name": "DFNA44",
            "description": ""
        },
        {
            "id": "MONDO:0011832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "name": "autosomal dominant deafness 44",
            "description": ""
        },
        {
            "id": "MONDO:0011832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "name": "autosomal dominant nonsyndromic deafness 44",
            "description": ""
        },
        {
            "id": "MONDO:0011832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50",
            "description": ""
        },
        {
            "id": "MONDO:0011832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "name": "autosomal dominant nonsyndromic deafness type 44",
            "description": ""
        },
        {
            "id": "MONDO:0011832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "name": "deafness, autosomal dominant 44",
            "description": ""
        },
        {
            "id": "MONDO:0011832",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "name": "deafness, autosomal dominant type 44",
            "description": ""
        },
        {
            "id": "MIM:607453",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607453",
            "name": "Deafness, autosomal dominant, 44",
            "description": "Deafness, autosomal dominant, 44"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110569"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110569",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110569",
            "categories": []
        },
        {
            "id": "MONDO:0011832",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011832",
            "categories": []
        },
        {
            "id": "MIM:607453",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607453",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AA70QFV6-1",
            "uniprot_ac": "A0AA70QFV6",
            "uniprot_id": "A0AA70QFV6_DANRE",
            "refseq_ac": "XP_690155",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein ccdc50b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein ccdc50b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccdc50b",
                    "type": "recommended"
                },
                {
                    "name": "ccdc50b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AA70QFV6-1",
            "evidence": [
                {
                    "id": "0110569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB13A9X1-1",
            "uniprot_ac": "A0AB13A9X1",
            "uniprot_id": "A0AB13A9X1_DANRE",
            "refseq_ac": "NP_001352926",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 50 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 50",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 50 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ccdc50a",
                    "type": "recommended"
                },
                {
                    "name": "ccdc50a",
                    "type": "synonym"
                },
                {
                    "name": "ccdc50",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-6k16.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A9X1-1",
            "evidence": [
                {
                    "id": "0110569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q810U5-1",
            "uniprot_ac": "Q810U5",
            "uniprot_id": "CCD50_MOUSE",
            "refseq_ac": "NP_001020786",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 50",
                    "type": "recommended"
                },
                {
                    "name": "Protein Ymer",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 50 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Ymer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc50",
                    "type": "recommended"
                },
                {
                    "name": "C3orf6",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc50",
                    "type": "synonym"
                }
            ],
            "record_id": "Q810U5-1",
            "evidence": [
                {
                    "id": "0110569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IVM0-1",
            "uniprot_ac": "Q8IVM0",
            "uniprot_id": "CCD50_HUMAN",
            "refseq_ac": "NP_777568",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 50",
                    "type": "recommended"
                },
                {
                    "name": "Protein Ymer",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 50 short isoform",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 50",
                    "type": "synonym"
                },
                {
                    "name": "protein Ymer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCDC50",
                    "type": "recommended"
                },
                {
                    "name": "C3orf6",
                    "type": "synonym"
                },
                {
                    "name": "CCDC50",
                    "type": "synonym"
                },
                {
                    "name": "DFNA44",
                    "type": "synonym"
                },
                {
                    "name": "YMER",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IVM0-1",
            "evidence": [
                {
                    "id": "607453",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607453"
                },
                {
                    "id": "0110569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q810U0-1",
            "uniprot_ac": "Q810U0",
            "uniprot_id": "CCD50_RAT",
            "refseq_ac": "NP_877400",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein 50",
                    "type": "recommended"
                },
                {
                    "name": "Protein Ymer",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 50 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 50",
                    "type": "synonym"
                },
                {
                    "name": "protein Ymer",
                    "type": "synonym"
                },
                {
                    "name": "putative C3orf6 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc50",
                    "type": "recommended"
                },
                {
                    "name": "C3orf6h",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc50",
                    "type": "synonym"
                },
                {
                    "name": "c3orf6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q810U0-1",
            "evidence": [
                {
                    "id": "0110569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JHK9-1",
            "uniprot_ac": "E1JHK9",
            "uniprot_id": "E1JHK9_DROME",
            "refseq_ac": "NP_001163006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10283-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10283",
                    "type": "recommended"
                },
                {
                    "name": "CG10283",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10283",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10283",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JHK9-1",
            "evidence": [
                {
                    "id": "0110569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110569"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110569"
}