{
    "disease_id": "DOID:0111639",
    "recommended_name": {
        "id": "DOID:0111639",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111639",
        "name": "autosomal recessive nonsyndromic deafness 109",
        "description": "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111639",
            "name": "DFNB109",
            "description": ""
        },
        {
            "id": "DOID:0111639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111639",
            "name": "autosomal recessive deafness 109",
            "description": ""
        },
        {
            "id": "MONDO:0033202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033202",
            "name": "hearing loss, autosomal recessive 109",
            "description": ""
        },
        {
            "id": "MONDO:0033202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033202",
            "name": "DFNB109",
            "description": ""
        },
        {
            "id": "MONDO:0033202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033202",
            "name": "deafness, autosomal recessive 109",
            "description": ""
        },
        {
            "id": "MIM:618013",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618013",
            "name": "Deafness, autosomal recessive, 109",
            "description": "Deafness, autosomal recessive, 109"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111639"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111639",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111639",
            "categories": []
        },
        {
            "id": "MONDO:0033202",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033202",
            "categories": []
        },
        {
            "id": "MIM:618013",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618013",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1L1G1-1",
            "uniprot_ac": "A1L1G1",
            "uniprot_id": "ESRP1_DANRE",
            "refseq_ac": "NP_001074045",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial splicing regulatory protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 35A",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 35A",
                    "type": "synonym"
                },
                {
                    "name": "epithelial splicing regulatory protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "esrp1",
                    "type": "recommended"
                },
                {
                    "name": "esrp1",
                    "type": "synonym"
                },
                {
                    "name": "rbm35a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi28a07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154050",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L1G1-1",
            "evidence": [
                {
                    "id": "0111639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3US41-1",
            "uniprot_ac": "Q3US41",
            "uniprot_id": "ESRP1_MOUSE",
            "refseq_ac": "NP_001277312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial splicing regulatory protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RNA binding motif protein 35A",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding motif protein 35A",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 35A",
                    "type": "synonym"
                },
                {
                    "name": "epithelial splicing regulatory protein 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Esrp1",
                    "type": "recommended"
                },
                {
                    "name": "2210008M09Rik",
                    "type": "synonym"
                },
                {
                    "name": "A630065D16",
                    "type": "synonym"
                },
                {
                    "name": "Esrp1",
                    "type": "synonym"
                },
                {
                    "name": "Rbm35a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3US41-1",
            "evidence": [
                {
                    "id": "0111639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NXG1-1",
            "uniprot_ac": "Q6NXG1",
            "uniprot_id": "ESRP1_HUMAN",
            "refseq_ac": "NP_001030087",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial splicing regulatory protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 35A",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 35A",
                    "type": "synonym"
                },
                {
                    "name": "epithelial splicing regulatory protein 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ESRP1",
                    "type": "recommended"
                },
                {
                    "name": "DFNB109",
                    "type": "synonym"
                },
                {
                    "name": "ESRP1",
                    "type": "synonym"
                },
                {
                    "name": "RBM35A",
                    "type": "synonym"
                },
                {
                    "name": "RMB35A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NXG1-1",
            "evidence": [
                {
                    "id": "618013",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618013"
                },
                {
                    "id": "0111639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RYD2-1",
            "uniprot_ac": "B2RYD2",
            "uniprot_id": "ESRP1_RAT",
            "refseq_ac": "NP_001121036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial splicing regulatory protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 35A",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 35A",
                    "type": "synonym"
                },
                {
                    "name": "epithelial splicing regulatory protein 1 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Esrp1",
                    "type": "recommended"
                },
                {
                    "name": "Esrp1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560481",
                    "type": "synonym"
                },
                {
                    "name": "Rbm35a",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RYD2-1",
            "evidence": [
                {
                    "id": "0111639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BJZ5-1",
            "uniprot_ac": "Q9BJZ5",
            "uniprot_id": "FUSIL_DROME",
            "refseq_ac": "NP_524691",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein fusilli",
                    "type": "recommended"
                },
                {
                    "name": "CG8205-PD",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of cactus[E10], number 7",
                    "type": "synonym"
                },
                {
                    "name": "fus-PD",
                    "type": "synonym"
                },
                {
                    "name": "fusilli, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "fusilli",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fus",
                    "type": "recommended"
                },
                {
                    "name": "CG8205",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8205",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8205",
                    "type": "synonym"
                },
                {
                    "name": "E(cact[E10])7",
                    "type": "synonym"
                },
                {
                    "name": "FUS",
                    "type": "synonym"
                },
                {
                    "name": "Fus",
                    "type": "synonym"
                },
                {
                    "name": "cg8205",
                    "type": "synonym"
                },
                {
                    "name": "fus",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BJZ5-1",
            "evidence": [
                {
                    "id": "0111639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111639"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111639"
}