{
    "disease_id": "DOID:0110482",
    "recommended_name": {
        "id": "DOID:0110482",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110482",
        "name": "autosomal recessive nonsyndromic deafness 24",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110482",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110482",
            "name": "DFNB24",
            "description": ""
        },
        {
            "id": "DOID:0110482",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110482",
            "name": "autosomal recessive deafness 24",
            "description": ""
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "autosomal recessive nonsyndromic hearing loss 24",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene."
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "autosomal recessive nonsyndromic hearing loss 24",
            "description": ""
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "DFNB24",
            "description": ""
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "RDX autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "autosomal recessive deafness 24",
            "description": ""
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "autosomal recessive nonsyndromic deafness 24",
            "description": ""
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in RDX",
            "description": ""
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "autosomal recessive nonsyndromic deafness type 24",
            "description": ""
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "deafness, autosomal recessive 24",
            "description": ""
        },
        {
            "id": "MONDO:0012602",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "name": "deafness, autosomal recessive type 24",
            "description": ""
        },
        {
            "id": "MIM:611022",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611022",
            "name": "Deafness, autosomal recessive, 24",
            "description": "Deafness, autosomal recessive, 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110482"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110482",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110482",
            "categories": []
        },
        {
            "id": "MONDO:0012602",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012602",
            "categories": []
        },
        {
            "id": "MIM:611022",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611022",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P26043-1",
            "uniprot_ac": "P26043",
            "uniprot_id": "RADI_MOUSE",
            "refseq_ac": "NP_001098086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Radixin",
                    "type": "recommended"
                },
                {
                    "name": "ESP10",
                    "type": "synonym"
                },
                {
                    "name": "radixin isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rdx",
                    "type": "recommended"
                },
                {
                    "name": "Rdx",
                    "type": "synonym"
                }
            ],
            "record_id": "P26043-1",
            "evidence": [
                {
                    "id": "0110482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35241-1",
            "uniprot_ac": "P35241",
            "uniprot_id": "RADI_HUMAN",
            "refseq_ac": "NP_001247421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Radixin",
                    "type": "recommended"
                },
                {
                    "name": "radixin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RDX",
                    "type": "recommended"
                },
                {
                    "name": "DFNB24",
                    "type": "synonym"
                },
                {
                    "name": "RDX",
                    "type": "synonym"
                }
            ],
            "record_id": "P35241-1",
            "evidence": [
                {
                    "id": "611022",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611022"
                },
                {
                    "id": "0110482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQK5-1",
            "uniprot_ac": "Q5PQK5",
            "uniprot_id": "Q5PQK5_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": "Radixin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rdx",
                    "type": "recommended"
                }
            ],
            "record_id": "Q5PQK5-1",
            "evidence": [
                {
                    "id": "0110482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46150-1",
            "uniprot_ac": "P46150",
            "uniprot_id": "MOEH_DROME",
            "refseq_ac": "NP_001245584",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Moesin/ezrin/radixin homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "CG10701-PL",
                    "type": "synonym"
                },
                {
                    "name": "Ezrin-Radixin-Moesin",
                    "type": "synonym"
                },
                {
                    "name": "Ezrin-moesin-radixin 1",
                    "type": "synonym"
                },
                {
                    "name": "Ezrin-moesin-radixin-1",
                    "type": "synonym"
                },
                {
                    "name": "Moe-PL",
                    "type": "synonym"
                },
                {
                    "name": "Moesin-like",
                    "type": "synonym"
                },
                {
                    "name": "Moesin",
                    "type": "synonym"
                },
                {
                    "name": "Protein D17",
                    "type": "synonym"
                },
                {
                    "name": "dMoesin",
                    "type": "synonym"
                },
                {
                    "name": "dmoesin",
                    "type": "synonym"
                },
                {
                    "name": "moesin, isoform L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Moe",
                    "type": "recommended"
                },
                {
                    "name": "CG10701",
                    "type": "synonym"
                },
                {
                    "name": "D17",
                    "type": "synonym"
                },
                {
                    "name": "DMoe",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10701",
                    "type": "synonym"
                },
                {
                    "name": "Dmoe",
                    "type": "synonym"
                },
                {
                    "name": "EMR1",
                    "type": "synonym"
                },
                {
                    "name": "ERM",
                    "type": "synonym"
                },
                {
                    "name": "Emr1",
                    "type": "synonym"
                },
                {
                    "name": "GMA",
                    "type": "synonym"
                },
                {
                    "name": "Moes",
                    "type": "synonym"
                },
                {
                    "name": "Moe",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.155",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.157",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.159",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.161",
                    "type": "synonym"
                },
                {
                    "name": "dMoe",
                    "type": "synonym"
                },
                {
                    "name": "gma",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0067",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0323",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0404",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0415",
                    "type": "synonym"
                },
                {
                    "name": "moesin/ezrin/radixin homolog mRNA",
                    "type": "synonym"
                },
                {
                    "name": "moesin",
                    "type": "synonym"
                },
                {
                    "name": "moe",
                    "type": "synonym"
                },
                {
                    "name": "p-Moesin",
                    "type": "synonym"
                }
            ],
            "record_id": "P46150-1",
            "evidence": [
                {
                    "id": "0110482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110482"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110482"
}