{
    "disease_id": "DOID:0111642",
    "recommended_name": {
        "id": "DOID:0111642",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111642",
        "name": "autosomal recessive nonsyndromic deafness 114",
        "description": "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111642",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111642",
            "name": "DFNB114",
            "description": ""
        },
        {
            "id": "DOID:0111642",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111642",
            "name": "autosomal recessive deafness 114",
            "description": ""
        },
        {
            "id": "MONDO:0032761",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032761",
            "name": "hearing loss, autosomal recessive 114",
            "description": ""
        },
        {
            "id": "MONDO:0032761",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032761",
            "name": "DFNB114",
            "description": ""
        },
        {
            "id": "MONDO:0032761",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032761",
            "name": "deafness, autosomal recessive 114",
            "description": ""
        },
        {
            "id": "MIM:618456",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618456",
            "name": "Deafness, autosomal recessive, 114",
            "description": "Deafness, autosomal recessive, 114"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111642"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111642",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111642",
            "categories": []
        },
        {
            "id": "MONDO:0032761",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032761",
            "categories": []
        },
        {
            "id": "MIM:618456",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618456",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QSQ4-1",
            "uniprot_ac": "F1QSQ4",
            "uniprot_id": "F1QSQ4_DANRE",
            "refseq_ac": "NP_001025251",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GRB2 related adaptor protein b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grapb",
                    "type": "recommended"
                },
                {
                    "name": "grapb",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-9d4.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109892",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QSQ4-1",
            "evidence": [
                {
                    "id": "0111642",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CX99-1",
            "uniprot_ac": "Q9CX99",
            "uniprot_id": "GRAP_MOUSE",
            "refseq_ac": "NP_082093",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GRB2-related adapter protein",
                    "type": "recommended"
                },
                {
                    "name": "GRB2-related adapter protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Grap",
                    "type": "recommended"
                },
                {
                    "name": "8430435N19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Grap",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111642",
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                }
            ]
        },
        {
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            "uniprot_id": "GRB2_MOUSE",
            "refseq_ac": "NP_001300865",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth factor receptor-bound protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein GRB2",
                    "type": "synonym"
                },
                {
                    "name": "SH2/SH3 adapter GRB2",
                    "type": "synonym"
                },
                {
                    "name": "adapter protein GRB2",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grb2",
                    "type": "recommended"
                },
                {
                    "name": "Ash",
                    "type": "synonym"
                },
                {
                    "name": "Grb2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111642",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13588-1",
            "uniprot_ac": "Q13588",
            "uniprot_id": "GRAP_HUMAN",
            "refseq_ac": "NP_001317077",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GRB2-related adapter protein",
                    "type": "recommended"
                },
                {
                    "name": "GRB2-related adapter protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GRB2-related adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2-related adaptor protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRAPL",
                    "type": "recommended"
                },
                {
                    "name": "GRAP",
                    "type": "recommended"
                },
                {
                    "name": "DFNB114",
                    "type": "synonym"
                },
                {
                    "name": "GRAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13588-1",
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                {
                    "id": "618456",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618456"
                },
                {
                    "id": "0111642",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7F1Z9-1",
            "uniprot_ac": "F7F1Z9",
            "uniprot_id": "F7F1Z9_RAT",
            "refseq_ac": "XP_063125579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "GRB2-related adapter protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "GRB2-related adaptor protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grap",
                    "type": "recommended"
                },
                {
                    "name": "Grap",
                    "type": "synonym"
                }
            ],
            "record_id": "F7F1Z9-1",
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                {
                    "id": "0111642",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62994-1",
            "uniprot_ac": "P62994",
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            "refseq_ac": "NP_110473",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Growth factor receptor-bound protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein GRB2",
                    "type": "synonym"
                },
                {
                    "name": "Protein Ash",
                    "type": "synonym"
                },
                {
                    "name": "SH2/SH3 adapter GRB2",
                    "type": "synonym"
                },
                {
                    "name": "adapter protein GRB2",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2-like",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Ash",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grb2",
                    "type": "recommended"
                },
                {
                    "name": "Ash-psi",
                    "type": "synonym"
                },
                {
                    "name": "Ash",
                    "type": "synonym"
                },
                {
                    "name": "Grb2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111642",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08012-1",
            "uniprot_ac": "Q08012",
            "uniprot_id": "GRAP_DROME",
            "refseq_ac": "NP_476858",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth factor receptor-bound protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG6033-PA",
                    "type": "synonym"
                },
                {
                    "name": "Downstream of receptor kinase",
                    "type": "synonym"
                },
                {
                    "name": "Protein enhancer of sevenless 2B",
                    "type": "synonym"
                },
                {
                    "name": "downstream of receptor kinase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "downstream of receptor kinases",
                    "type": "synonym"
                },
                {
                    "name": "downstream of receptor kinase",
                    "type": "synonym"
                },
                {
                    "name": "downstream receptor kinase",
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                {
                    "name": "drk-PA",
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                {
                    "name": "enhancer of sevenless-2B",
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                }
            ],
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                {
                    "name": "drk",
                    "type": "recommended"
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                {
                    "name": "24/1",
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                },
                {
                    "name": "CG6033",
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                    "name": "DRK",
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                {
                    "name": "Dmel\\CG6033",
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                {
                    "name": "Drk/Grb2",
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                {
                    "name": "Drk",
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                },
                {
                    "name": "E(sev)2B",
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                },
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                    "name": "GRB2",
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                {
                    "name": "Grb-2",
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                    "name": "Grb/drk",
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                {
                    "name": "Grb2/drk",
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                    "name": "Grb2",
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                {
                    "name": "P1112",
                    "type": "synonym"
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                {
                    "name": "Su(sev)R1",
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                {
                    "name": "crkl",
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                },
                {
                    "name": "drk",
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                {
                    "name": "l(2)10626",
                    "type": "synonym"
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                {
                    "name": "l(2)k13809",
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                }
            ],
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                {
                    "id": "0111642",
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                }
            ]
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            "uniprot_canonical_ac": "P62993-1",
            "uniprot_ac": "P62993",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth factor receptor-bound protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein GRB2",
                    "type": "synonym"
                },
                {
                    "name": "HT027",
                    "type": "synonym"
                },
                {
                    "name": "Protein Ash",
                    "type": "synonym"
                },
                {
                    "name": "SH2/SH3 adapter GRB2",
                    "type": "synonym"
                },
                {
                    "name": "abundant SRC homology",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor-binding protein GRB2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 3",
                    "type": "synonym"
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                {
                    "name": "protein Ash",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "GRB2",
                    "type": "recommended"
                },
                {
                    "name": "ASH",
                    "type": "synonym"
                },
                {
                    "name": "EGFRBP-GRB2",
                    "type": "synonym"
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                {
                    "name": "GRB2",
                    "type": "synonym"
                },
                {
                    "name": "Grb3-3",
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                },
                {
                    "name": "MST084",
                    "type": "synonym"
                },
                {
                    "name": "MSTP084",
                    "type": "synonym"
                },
                {
                    "name": "NCKAP2",
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                }
            ],
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                {
                    "id": "0111642",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111642"
}