{
    "disease_id": "DOID:0110497",
    "recommended_name": {
        "id": "DOID:0110497",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110497",
        "name": "autosomal recessive nonsyndromic deafness 39",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110497",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110497",
            "name": "DFNB39",
            "description": ""
        },
        {
            "id": "DOID:0110497",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110497",
            "name": "autosomal recessive deafness 39",
            "description": ""
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "autosomal recessive nonsyndromic hearing loss 39",
            "description": "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness."
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "autosomal recessive nonsyndromic hearing loss 39",
            "description": ""
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "DFNB39",
            "description": ""
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "HGF autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "autosomal recessive deafness 39",
            "description": ""
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "autosomal recessive nonsyndromic deafness 39",
            "description": ""
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in HGF",
            "description": ""
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "autosomal recessive nonsyndromic deafness type 39",
            "description": ""
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "deafness, autosomal recessive 39",
            "description": ""
        },
        {
            "id": "MONDO:0012003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "name": "deafness, autosomal recessive type 39",
            "description": ""
        },
        {
            "id": "MIM:608265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608265",
            "name": "Deafness, autosomal recessive, 39",
            "description": "Deafness, autosomal recessive, 39"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110497"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110497",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110497",
            "categories": []
        },
        {
            "id": "MONDO:0012003",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012003",
            "categories": []
        },
        {
            "id": "MIM:608265",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608265",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1REK1-1",
            "uniprot_ac": "F1REK1",
            "uniprot_id": "F1REK1_DANRE",
            "refseq_ac": "XP_005164799",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte growth factor",
                    "type": "recommended"
                },
                {
                    "name": "Hepatopoietin-A",
                    "type": "synonym"
                },
                {
                    "name": "Scatter factor",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte growth factor a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hgfa",
                    "type": "recommended"
                },
                {
                    "name": "hgf1",
                    "type": "synonym"
                },
                {
                    "name": "hgfa",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-146j3.2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1REK1-1",
            "evidence": [
                {
                    "id": "0110497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08048-1",
            "uniprot_ac": "Q08048",
            "uniprot_id": "HGF_MOUSE",
            "refseq_ac": "NP_001276387",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte growth factor",
                    "type": "recommended"
                },
                {
                    "name": "Hepatopoietin-A",
                    "type": "synonym"
                },
                {
                    "name": "SF",
                    "type": "synonym"
                },
                {
                    "name": "Scatter factor",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte growth factor isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "hepatopoietin-A",
                    "type": "synonym"
                },
                {
                    "name": "scatter factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hgf",
                    "type": "recommended"
                },
                {
                    "name": "C230052L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "HGF/SF",
                    "type": "synonym"
                },
                {
                    "name": "Hgf",
                    "type": "synonym"
                },
                {
                    "name": "NK1",
                    "type": "synonym"
                },
                {
                    "name": "NK2",
                    "type": "synonym"
                },
                {
                    "name": "SF/HGF",
                    "type": "synonym"
                },
                {
                    "name": "SF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08048-1",
            "evidence": [
                {
                    "id": "0110497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14210-1",
            "uniprot_ac": "P14210",
            "uniprot_id": "HGF_HUMAN",
            "refseq_ac": "NP_000592",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte growth factor",
                    "type": "recommended"
                },
                {
                    "name": "Hepatopoietin-A",
                    "type": "synonym"
                },
                {
                    "name": "SF",
                    "type": "synonym"
                },
                {
                    "name": "Scatter factor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast-derived tumor cytotoxic factor",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte growth factor (hepapoietin A",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte growth factor isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "hepatopoietin-A",
                    "type": "synonym"
                },
                {
                    "name": "lung fibroblast-derived mitogen",
                    "type": "synonym"
                },
                {
                    "name": "scatter factor)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HGF",
                    "type": "recommended"
                },
                {
                    "name": "DFNB39",
                    "type": "synonym"
                },
                {
                    "name": "F-TCF",
                    "type": "synonym"
                },
                {
                    "name": "HGFB",
                    "type": "synonym"
                },
                {
                    "name": "HGF",
                    "type": "synonym"
                },
                {
                    "name": "HPTA",
                    "type": "synonym"
                },
                {
                    "name": "SF",
                    "type": "synonym"
                }
            ],
            "record_id": "P14210-1",
            "evidence": [
                {
                    "id": "608265",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608265"
                },
                {
                    "id": "0110497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17945-1",
            "uniprot_ac": "P17945",
            "uniprot_id": "HGF_RAT",
            "refseq_ac": "NP_058713",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte growth factor",
                    "type": "recommended"
                },
                {
                    "name": "Hepatopoietin-A",
                    "type": "synonym"
                },
                {
                    "name": "SF",
                    "type": "synonym"
                },
                {
                    "name": "Scatter factor",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte growth factor preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "hepatopoeitin-A",
                    "type": "synonym"
                },
                {
                    "name": "hepatopoietin-A",
                    "type": "synonym"
                },
                {
                    "name": "scatter factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hgf",
                    "type": "recommended"
                },
                {
                    "name": "HPTA",
                    "type": "synonym"
                },
                {
                    "name": "Hgf",
                    "type": "synonym"
                }
            ],
            "record_id": "P17945-1",
            "evidence": [
                {
                    "id": "0110497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110497"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110497"
}