{
    "disease_id": "DOID:0110489",
    "recommended_name": {
        "id": "DOID:0110489",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110489",
        "name": "autosomal recessive nonsyndromic deafness 30",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110489",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110489",
            "name": "DFNB30",
            "description": ""
        },
        {
            "id": "DOID:0110489",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110489",
            "name": "autosomal recessive deafness 30",
            "description": ""
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "autosomal recessive nonsyndromic hearing loss 30",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene."
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "autosomal recessive nonsyndromic hearing loss 30",
            "description": ""
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "DFNB30",
            "description": ""
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "MYO3A autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "autosomal recessive deafness 30",
            "description": ""
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "autosomal recessive nonsyndromic deafness 30",
            "description": ""
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in MYO3A",
            "description": ""
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "autosomal recessive nonsyndromic deafness type 30",
            "description": ""
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "deafness, autosomal recessive 30",
            "description": ""
        },
        {
            "id": "MONDO:0011774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "name": "deafness, autosomal recessive type 30",
            "description": ""
        },
        {
            "id": "MIM:607101",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607101",
            "name": "Deafness, autosomal recessive, 30",
            "description": "Deafness, autosomal recessive, 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110489"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110489",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110489",
            "categories": []
        },
        {
            "id": "MONDO:0011774",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011774",
            "categories": []
        },
        {
            "id": "MIM:607101",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607101",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P10676-1",
            "uniprot_ac": "P10676",
            "uniprot_id": "NINAC_DROME",
            "refseq_ac": "NP_001260189",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neither inactivation nor afterpotential protein C",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG5125-PC; ninaC-PC; neither inactivation nor afterpotential-C; NINAC myosin III; neither inactivation Nor afterpotential C; neither inactivation nor after potential C; myosin-III; droninac; either inactivation nor afterpotential C",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "neither inactivation nor afterpotential C, isoform C",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ninaC",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.2; CG 5125; CG5125; CG54125; CT16120; CT42491; Dm NinaC; Dmel\\CG5125; DRONINAC; Myo1B; Nina C; NINA C; ninac; NinaC; NINAC",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "2.2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG 5125",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG5125",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG54125",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CT16120",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CT42491",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DRONINAC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dm NinaC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5125",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5125",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Myo1B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NINA C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NINAC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Nina C",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "NinaC",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ninaC-RA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "ninaC",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ninac",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110489",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3H5-1",
            "uniprot_ac": "Q8K3H5",
            "uniprot_id": "MYO3A_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-IIIa",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo3a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0110489",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110489"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEV4-1",
            "uniprot_ac": "Q8NEV4",
            "uniprot_id": "MYO3A_HUMAN",
            "refseq_ac": "NP_059129",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-IIIa",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "myosin-IIIa isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "myosin-IIIa; epididymis secretory sperm binding protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO3A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DFNA90; DFNB30",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MYO3A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110489",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110489"
                },
                {
                    "id": "607101",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZK7-1",
            "uniprot_ac": "D3ZZK7",
            "uniprot_id": "D3ZZK7_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": "non-specific serine/threonine protein kinase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myo3a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0110489",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110489"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110489"
}