{
    "disease_id": "DOID:0080280",
    "recommended_name": {
        "id": "DOID:0080280",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080280",
        "name": "gingival fibromatosis 5",
        "description": "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0033493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033493",
            "name": "fibromatosis, gingival, 5",
            "description": ""
        },
        {
            "id": "MONDO:0033493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033493",
            "name": "fibromatosis, gingival, 5",
            "description": ""
        },
        {
            "id": "MONDO:0033493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033493",
            "name": "GGF5",
            "description": ""
        },
        {
            "id": "MONDO:0033493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033493",
            "name": "GINGF5",
            "description": ""
        },
        {
            "id": "MIM:617626",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617626",
            "name": "Fibromatosis, gingival, 5",
            "description": "Fibromatosis, gingival, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080280"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080280",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080280",
            "categories": []
        },
        {
            "id": "MONDO:0033493",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033493",
            "categories": []
        },
        {
            "id": "MIM:617626",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617626",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IKA2-1",
            "uniprot_ac": "A0A0R4IKA2",
            "uniprot_id": "A0A0R4IKA2_DANRE",
            "refseq_ac": "NP_001340795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "RE-1 silencer of transcription",
                    "type": "synonym"
                },
                {
                    "name": "RE1-silencing transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "neural-restrictive silencer factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rest",
                    "type": "recommended"
                },
                {
                    "name": "NRSF",
                    "type": "synonym"
                },
                {
                    "name": "rest",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IKA2-1",
            "evidence": [
                {
                    "id": "0080280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VIG1-1",
            "uniprot_ac": "Q8VIG1",
            "uniprot_id": "REST_MOUSE",
            "refseq_ac": "NP_035393",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RE1-silencing transcription factor",
                    "type": "recommended"
                },
                {
                    "name": "Neural-restrictive silencer factor",
                    "type": "synonym"
                },
                {
                    "name": "RE1-silencing transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "neural-restrictive silencer factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rest",
                    "type": "recommended"
                },
                {
                    "name": "2610008J04Rik",
                    "type": "synonym"
                },
                {
                    "name": "NRSF",
                    "type": "synonym"
                },
                {
                    "name": "Nrsf",
                    "type": "synonym"
                },
                {
                    "name": "REST4",
                    "type": "synonym"
                },
                {
                    "name": "Rest",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VIG1-1",
            "evidence": [
                {
                    "id": "0080280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13127-1",
            "uniprot_ac": "Q13127",
            "uniprot_id": "REST_HUMAN",
            "refseq_ac": "NP_001180437",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RE1-silencing transcription factor",
                    "type": "recommended"
                },
                {
                    "name": "Neural-restrictive silencer factor",
                    "type": "synonym"
                },
                {
                    "name": "RE1-silencing transcription factor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "X2 box repressor",
                    "type": "synonym"
                },
                {
                    "name": "neural-restrictive silencer factor",
                    "type": "synonym"
                },
                {
                    "name": "neuron restrictive silencer factor",
                    "type": "synonym"
                },
                {
                    "name": "repressor binding to the X2 box",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "REST",
                    "type": "recommended"
                },
                {
                    "name": "DFNA27",
                    "type": "synonym"
                },
                {
                    "name": "GINGF5",
                    "type": "synonym"
                },
                {
                    "name": "HGF5",
                    "type": "synonym"
                },
                {
                    "name": "NRSF",
                    "type": "synonym"
                },
                {
                    "name": "REST",
                    "type": "synonym"
                },
                {
                    "name": "WT6",
                    "type": "synonym"
                },
                {
                    "name": "XBR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13127-1",
            "evidence": [
                {
                    "id": "617626",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617626"
                },
                {
                    "id": "0080280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080280"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54963-1",
            "uniprot_ac": "O54963",
            "uniprot_id": "REST_RAT",
            "refseq_ac": "NP_113976",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RE1-silencing transcription factor",
                    "type": "recommended"
                },
                {
                    "name": "Neural-restrictive silencer factor",
                    "type": "synonym"
                },
                {
                    "name": "RE1-silencing transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "neural-restrictive silencer factor",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger transcription factor REST protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rest",
                    "type": "recommended"
                },
                {
                    "name": "Nrsf",
                    "type": "synonym"
                },
                {
                    "name": "Rest",
                    "type": "synonym"
                }
            ],
            "record_id": "O54963-1",
            "evidence": [
                {
                    "id": "0080280",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080280"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080280"
}