{
    "disease_id": "DOID:0070204",
    "recommended_name": {
        "id": "DOID:0070204",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070204",
        "name": "familial partial lipodystrophy type 3",
        "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0070204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070204",
            "name": "familial partial lipodystrophy associated with PPARG mutations",
            "description": ""
        },
        {
            "id": "DOID:0070204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070204",
            "name": "FPLD3",
            "description": ""
        },
        {
            "id": "DOID:0070204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070204",
            "name": "PPARG-related FPLD",
            "description": ""
        },
        {
            "id": "DOID:0070204",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070204",
            "name": "PPARG-related familial partial lipodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011448",
            "name": "PPARG-related familial partial lipodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011448",
            "name": "FPLD3",
            "description": ""
        },
        {
            "id": "MONDO:0011448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011448",
            "name": "PPARG-related FPLD",
            "description": ""
        },
        {
            "id": "MONDO:0011448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011448",
            "name": "familial partial lipodystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011448",
            "name": "familial partial lipodystrophy associated with PPARG mutations",
            "description": ""
        },
        {
            "id": "MONDO:0011448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011448",
            "name": "lipodystrophy, familial partial, type 3",
            "description": ""
        },
        {
            "id": "MIM:604367",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604367",
            "name": "Lipodystrophy, familial partial, 3",
            "description": "Lipodystrophy, familial partial, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070204"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070204",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070204",
            "categories": []
        },
        {
            "id": "MONDO:0011448",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011448",
            "categories": []
        },
        {
            "id": "MIM:604367",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604367",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P37238-1",
            "uniprot_ac": "P37238",
            "uniprot_id": "PPARG_MOUSE",
            "refseq_ac": "NP_001120802",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome proliferator-activated receptor gamma",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group C member 3",
                    "type": "synonym"
                },
                {
                    "name": "PPAR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group C member 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome proliferator activated receptor gamma 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome proliferator activated receptor gamma 4",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome proliferator-activated receptor gamma isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pparg",
                    "type": "recommended"
                },
                {
                    "name": "Nr1c3",
                    "type": "synonym"
                },
                {
                    "name": "PPAR-gamma2",
                    "type": "synonym"
                },
                {
                    "name": "PPAR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "PPARG",
                    "type": "synonym"
                },
                {
                    "name": "PPARgamma2",
                    "type": "synonym"
                },
                {
                    "name": "PPARgamma",
                    "type": "synonym"
                },
                {
                    "name": "Pparg",
                    "type": "synonym"
                }
            ],
            "record_id": "P37238-1",
            "evidence": [
                {
                    "id": "0070204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37231-1",
            "uniprot_ac": "P37231",
            "uniprot_id": "PPARG_HUMAN",
            "refseq_ac": "NP_056953",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome proliferator-activated receptor gamma",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group C member 3",
                    "type": "synonym"
                },
                {
                    "name": "PPAR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group C member 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome proliferator-activated receptor gamma isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome proliferator-activated receptor-gamma 5",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome proliferator-activated receptor-gamma splicing",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPARG",
                    "type": "recommended"
                },
                {
                    "name": "CIMT1",
                    "type": "synonym"
                },
                {
                    "name": "FPLD3",
                    "type": "synonym"
                },
                {
                    "name": "GLM1",
                    "type": "synonym"
                },
                {
                    "name": "NR1C3",
                    "type": "synonym"
                },
                {
                    "name": "PPARG1",
                    "type": "synonym"
                },
                {
                    "name": "PPARG2",
                    "type": "synonym"
                },
                {
                    "name": "PPARG5",
                    "type": "synonym"
                },
                {
                    "name": "PPARG",
                    "type": "synonym"
                },
                {
                    "name": "PPARgamma",
                    "type": "synonym"
                }
            ],
            "record_id": "P37231-1",
            "evidence": [
                {
                    "id": "604367",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604367"
                },
                {
                    "id": "0070204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88275-1",
            "uniprot_ac": "O88275",
            "uniprot_id": "PPARG_RAT",
            "refseq_ac": "NP_001138838",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisome proliferator-activated receptor gamma",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group C member 3",
                    "type": "synonym"
                },
                {
                    "name": "PPAR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group C member 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome proliferator activator receptor, gamma",
                    "type": "synonym"
                },
                {
                    "name": "peroxisome proliferator-activated receptor gamma isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pparg",
                    "type": "recommended"
                },
                {
                    "name": "Nr1c3",
                    "type": "synonym"
                },
                {
                    "name": "PPARgamma2",
                    "type": "synonym"
                },
                {
                    "name": "Pparg",
                    "type": "synonym"
                }
            ],
            "record_id": "O88275-1",
            "evidence": [
                {
                    "id": "0070204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070204"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070204"
}