{
    "disease_id": "DOID:0111642",
    "recommended_name": {
        "id": "DOID:0111642",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111642",
            "name": "DFNB114",
            "description": ""
        },
        {
            "id": "DOID:0111642",
            "resource": "Disease Ontology",
            "url": "http://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": "http://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": "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CG6033-PA; drk-PA; downstream of receptor kinase; downstream of receptor kinases; enhancer of sevenless-2B; downstream receptor kinase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Downstream of receptor kinase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein enhancer of sevenless 2B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "downstream of receptor kinase, isoform A",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "drk",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "24/1; CG6033; crkl; Dmel\\CG6033; Drk; DRK; Drk/Grb2; E(sev)2B; Grb-2; Grb/drk; Grb2; GRB2; Grb2/drk; l(2)10626; l(2)k13809; P1112; Su(sev)R1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "CG6033",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "E(sev)2B",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Grb2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "drk",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GRB2-related adapter protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grap",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "8430435N19Rik",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Grap",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60631-1",
            "uniprot_ac": "Q60631",
            "uniprot_id": "GRB2_MOUSE",
            "refseq_ac": "NP_001300865",
            "glycoprotein": "yes",
            "species": [
                {
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein GRB2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SH2/SH3 adapter GRB2; adapter protein GRB2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SH2/SH3 adapter GRB2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grb2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ash",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Grb2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GRB2-related adapter protein isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2-related adaptor protein; GRB2-related adapter protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRAPL",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GRAP",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "DFNB114",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GRAP",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GRAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                },
                {
                    "id": "618456",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62993-1",
            "uniprot_ac": "P62993",
            "uniprot_id": "GRB2_HUMAN",
            "refseq_ac": "NP_002077",
            "glycoprotein": "yes",
            "species": [
                {
                    "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein GRB2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HT027; growth factor receptor-bound protein 3; epidermal growth factor receptor-binding protein GRB2; abundant SRC homology; protein Ash; SH2/SH3 adapter GRB2; epididymis secretory sperm binding protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Protein Ash",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SH2/SH3 adapter GRB2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2 isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRB2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ASH; EGFRBP-GRB2; Grb3-3; MST084; MSTP084; NCKAP2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "ASH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GRB2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "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",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GRB2-related adaptor protein b",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grapb",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "grapb",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-9d4.1; zgc:109892",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-9d4.1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109892",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q503S8-1",
            "uniprot_ac": "Q503S8",
            "uniprot_id": "Q503S8_DANRE",
            "refseq_ac": "NP_001018409",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GRB2 related adaptor protein a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GRB2 related adaptor protein a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GRB2-related adaptor protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Grap protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grapa",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "grap; zgc:110202",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "grapa",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "grap",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110202",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PC73-1",
            "uniprot_ac": "Q6PC73",
            "uniprot_id": "Q6PC73_DANRE",
            "refseq_ac": "NP_998200",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth factor receptor-bound protein 2b isoform X1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Growth factor receptor-bound protein 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2b",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grb2b",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "fb18e12; grb2; wu:fb18e12; wu:fb34e06; zgc:73077",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "fb18e12",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "grb2b",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "grb2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb18e12",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb34e06",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73077",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RKN6-1",
            "uniprot_ac": "Q5RKN6",
            "uniprot_id": "Q5RKN6_DANRE",
            "refseq_ac": "NP_001007770",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth factor receptor-bound protein 2a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Zgc:103549",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2a",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grb2a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "grb2a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103549",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103549",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KM68-1",
            "uniprot_ac": "Q4KM68",
            "uniprot_id": "Q4KM68_RAT",
            "refseq_ac": "NP_001020920",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GRB2-related adapter protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GRB2-related adaptor protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grap",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Grap",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62994-1",
            "uniprot_ac": "P62994",
            "uniprot_id": "GRB2_RAT",
            "refseq_ac": "NP_110473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth factor receptor-bound protein 2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein GRB2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein Ash",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "SH2/SH3 adapter GRB2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "growth factor receptor-bound protein 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "protein Ash; SH2/SH3 adapter GRB2; adapter protein GRB2; growth factor receptor-bound protein 2-like",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grb2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ash-psi",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ash",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Grb2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111642",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111642"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111642"
}