{
    "disease_id": "DOID:0050440",
    "recommended_name": {
        "id": "DOID:0050440",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050440",
        "name": "familial partial lipodystrophy",
        "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life."
    },
    "synonyms": [
        {
            "id": "DOID:0050440",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050440",
            "name": "Dunnigan Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050440",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050440",
            "name": "Koberling-Dunnigan Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007906",
            "name": "familial partial lipodystrophy, Dunnigan type",
            "description": "Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis."
        },
        {
            "id": "MONDO:0007906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007906",
            "name": "Dunnigan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007906",
            "name": "FPLD2",
            "description": ""
        },
        {
            "id": "MONDO:0007906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007906",
            "name": "familial partial lipodystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007906",
            "name": "FPL2",
            "description": ""
        },
        {
            "id": "MONDO:0007906",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007906",
            "name": "lipodystrophy, familial partial, type 2",
            "description": ""
        },
        {
            "id": "MIM:151660",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/151660",
            "name": "Lipodystrophy, familial partial, 2",
            "description": "Lipodystrophy, familial partial, 2"
        }
    ],
    "children": [
        {
            "id": "DOID:0070202",
            "label": "familial partial lipodystrophy type 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070203",
            "label": "familial partial lipodystrophy type 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070204",
            "label": "familial partial lipodystrophy type 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070205",
            "label": "familial partial lipodystrophy type 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070206",
            "label": "familial partial lipodystrophy type 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070207",
            "label": "familial partial lipodystrophy type 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070202",
        "DOID:0070206",
        "DOID:0050440",
        "DOID:0070203",
        "DOID:0070207",
        "DOID:0070204",
        "DOID:0070205"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050440",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050440",
            "categories": []
        },
        {
            "id": "MONDO:0007906",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007906",
            "categories": []
        },
        {
            "id": "MIM:151660",
            "database": "MIM",
            "url": "https://www.omim.org/entry/151660",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q90WY4",
            "uniprot_id": "ADA2A_DANRE",
            "refseq_ac": "",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "name": "Alpha-2A adrenergic receptor",
                    "type": "recommended"
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                {
                    "name": "Alpha-2A adrenoceptor",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2A adrenoreceptor",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2AAR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adra2a",
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                }
            ],
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                }
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                    "name": "Danio rerio",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Caveolin",
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                {
                    "name": "caveolin-1 isoform a",
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                    "name": "cav1",
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                    "name": "cav1",
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                {
                    "name": "wu:fc07c04",
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                    "id": "0050440",
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            ]
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                }
            ],
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                    "name": "Peroxisome proliferator-activated receptor gamma",
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                {
                    "name": "Nuclear receptor subfamily 1 group C member 3",
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                {
                    "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"
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                {
                    "name": "peroxisome proliferator-activated receptor gamma isoform 1",
                    "type": "synonym"
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            ],
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                    "name": "Pparg",
                    "type": "recommended"
                },
                {
                    "name": "Nr1c3",
                    "type": "synonym"
                },
                {
                    "name": "PPAR-gamma2",
                    "type": "synonym"
                },
                {
                    "name": "PPAR-gamma",
                    "type": "synonym"
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                {
                    "name": "PPARG",
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                },
                {
                    "name": "PPARgamma2",
                    "type": "synonym"
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                {
                    "name": "PPARgamma",
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                },
                {
                    "name": "Pparg",
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            ],
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                {
                    "id": "0050440",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050440"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48678-1",
            "uniprot_ac": "P48678",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Prelamin-A/C",
                    "type": "recommended"
                },
                {
                    "name": "lamin C",
                    "type": "synonym"
                },
                {
                    "name": "lamin-A/C",
                    "type": "synonym"
                },
                {
                    "name": "prelamin-A/C isoform A precursor",
                    "type": "synonym"
                },
                {
                    "name": "prelamin-A/C",
                    "type": "synonym"
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            ],
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                {
                    "name": "Lmna",
                    "type": "recommended"
                },
                {
                    "name": "Dhe",
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                },
                {
                    "name": "Lmn1",
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                {
                    "name": "Lmna",
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                    "id": "0050440",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050440"
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            ]
        },
        {
            "uniprot_canonical_ac": "Q80W54-1",
            "uniprot_ac": "Q80W54",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "CAAX prenyl protease 1 homolog",
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                    "name": "3.4.24.84",
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                },
                {
                    "name": "CAAX prenyl protease 1 homolog",
                    "type": "synonym"
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                {
                    "name": "FACE-1",
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                {
                    "name": "Farnesylated proteins-converting enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Prenyl protein-specific endoprotease 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc metalloproteinase Ste24 homolog",
                    "type": "synonym"
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                {
                    "name": "farnesylated-proteins converting enzyme 1",
                    "type": "synonym"
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                {
                    "name": "prenyl protein-specific endoprotease 1",
                    "type": "synonym"
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                {
                    "name": "zinc metallopeptidase, STE24 homolog",
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                },
                {
                    "name": "zinc metalloproteinase, STE24 homolog",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Zmpste24",
                    "type": "recommended"
                },
                {
                    "name": "A530043O15Rik",
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                },
                {
                    "name": "D030046F19",
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                },
                {
                    "name": "FACE1",
                    "type": "synonym"
                },
                {
                    "name": "Face-1",
                    "type": "synonym"
                },
                {
                    "name": "Face1",
                    "type": "synonym"
                },
                {
                    "name": "MADB",
                    "type": "synonym"
                },
                {
                    "name": "STE24",
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                },
                {
                    "name": "Ste24p",
                    "type": "synonym"
                },
                {
                    "name": "Zmpste24",
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                    "id": "0050440",
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                    "name": "Mus musculus",
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                }
            ],
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                    "name": "Alpha-2A adrenergic receptor",
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                    "name": "Alpha-2A adrenoreceptor",
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                    "name": "Alpha-2AAR",
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                {
                    "name": "alpha-2A adrenergic receptor",
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                {
                    "name": "alpha2A-adrenergic receptor",
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                    "name": "subtype alpha2-C10",
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                {
                    "name": "Adra-2",
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                {
                    "name": "Adra2a",
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                {
                    "name": "alpha(2A)AR",
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                    "name": "alpha2-C10",
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                {
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                    "id": "0050440",
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            "uniprot_canonical_ac": "P49817-1",
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                    "name": "Mus musculus",
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                }
            ],
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                    "name": "Caveolin-1",
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                    "name": "caveolin, caveolae protein 1",
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                {
                    "name": "caveolin, caveolae protein, 22 kDa",
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                {
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                    "id": "0050440",
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            "uniprot_canonical_ac": "P02545-1",
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                {
                    "name": "Homo sapiens",
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            ],
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                    "name": "70 kDa lamin",
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                {
                    "name": "Renal carcinoma antigen NY-REN-32",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
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                    "name": "lamin A/C-like 1",
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                    "name": "lamin C",
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                    "name": "lamin isoform D",
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                    "name": "mandibuloacral dysplasia type A",
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                {
                    "name": "prelamin-A/C",
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                {
                    "name": "progerin",
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                {
                    "name": "renal carcinoma antigen NY-REN-32",
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                    "name": "LMNA",
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                    "name": "CDCD1",
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                    "name": "CDDC",
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                {
                    "name": "CMD1A",
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                {
                    "name": "CMT2B1",
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                {
                    "name": "EMD2",
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                {
                    "name": "FPLD2",
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                {
                    "name": "FPLD",
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                },
                {
                    "name": "FPL",
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                {
                    "name": "HGPS",
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                    "name": "IDC",
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                    "name": "LDP1",
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                    "name": "LGMD1B",
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                    "name": "LMNL1",
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                    "name": "MADA",
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                    "id": "0050440",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "CAAX prenyl protease 1",
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                    "name": "3.4.24.84",
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                {
                    "name": "A-factor-converting enzyme",
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                {
                    "name": "PPSEP 1",
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                },
                {
                    "name": "Prenyl protein-specific endoprotease 1",
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                },
                {
                    "name": "zinc metalloprotease",
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                }
            ],
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                    "name": "STE24",
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                    "name": "AFC1",
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                    "name": "J2032",
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                    "name": "PIO2",
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                    "name": "STE24",
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                {
                    "id": "0050440",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050440"
                }
            ]
        },
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            "uniprot_canonical_ac": "P22909-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "glygen_name": "Rat",
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                }
            ],
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                {
                    "name": "Alpha-2A adrenoreceptor",
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                },
                {
                    "name": "Alpha-2AAR",
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                {
                    "name": "Alpha-2D adrenergic receptor",
                    "type": "synonym"
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                {
                    "name": "CA2-47",
                    "type": "synonym"
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                {
                    "name": "adrenergic receptor, alpha 2a",
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                {
                    "name": "adrenergic, alpha-2A-, receptor",
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                {
                    "name": "alpha-2A adrenergic receptor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2A adrenoceptor",
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                {
                    "name": "alpha-2A adrenoreceptor",
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                {
                    "name": "alpha-2AAR",
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                {
                    "name": "alpha-2D adrenergic receptor",
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                }
            ],
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                    "name": "Adra2a",
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                    "name": "CA2-47",
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                },
                {
                    "name": "RATRG20",
                    "type": "synonym"
                },
                {
                    "name": "RG20",
                    "type": "synonym"
                }
            ],
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                    "id": "0050440",
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                }
            ]
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                    "name": "Rattus norvegicus",
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                    "name": "Caveolin-1",
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                    "name": "Cav1",
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                    "name": "Cav",
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                    "id": "0050440",
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            ]
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                    "name": "Prelamin-A/C",
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                {
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                    "id": "0050440",
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                {
                    "name": "Peroxisome proliferator-activated receptor gamma",
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                {
                    "name": "PPAR-gamma",
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                {
                    "name": "nuclear receptor subfamily 1 group C member 3",
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                {
                    "name": "peroxisome proliferator activator receptor, gamma",
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                {
                    "name": "peroxisome proliferator-activated receptor gamma isoform 2",
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                }
            ],
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                    "name": "Pparg",
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                {
                    "name": "Nr1c3",
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                {
                    "name": "PPARgamma2",
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                {
                    "name": "Pparg",
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                }
            ],
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                {
                    "id": "0050440",
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            ]
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                }
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                    "name": "CAAX prenyl protease",
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                    "name": "3.4.24.84",
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                {
                    "name": "CAAX prenyl protease 1 homolog",
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                {
                    "name": "zinc metallopeptidase, STE24 homolog",
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                },
                {
                    "name": "zinc metalloproteinase, STE24 homolog",
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            ],
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                    "name": "Zmpste24",
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                {
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                    "id": "0050440",
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                    "name": "74/76",
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                    "name": "CG6944",
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                    "name": "D5",
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                    "name": "DM[[O]]",
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                {
                    "name": "D[[m0]]",
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                    "name": "Dm(0)",
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                    "name": "Dm0",
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                {
                    "name": "Dm1",
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                    "name": "DmO",
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                    "name": "Dm[[0]]",
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                {
                    "name": "Dm[[1]]",
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                {
                    "name": "Dm[[2]]",
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                {
                    "name": "Dm[[mit]]",
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                    "name": "Dmel\\CG6944",
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                    "name": "Dm",
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                    "name": "Lam Dm0",
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                    "name": "Lam Dm[[0]]",
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                    "name": "Lam(Dm0)",
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                    "name": "l(2)gdh-7",
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                    "name": "l(2)gdh7",
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                    "name": "lamin DmO",
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                    "name": "lamin Dm[[0]]",
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                    "name": "lamin",
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                    "name": "misg",
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                    "id": "0050440",
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                    "name": "lamin C",
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                    "name": "ste24b prenyl protease type I",
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                    "name": "ste24b",
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Cytochrome c oxidase subunit 6B1",
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                {
                    "name": "COX VIb-1",
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                },
                {
                    "name": "Cytochrome c oxidase subunit VIb isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6B1",
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                },
                {
                    "name": "cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)",
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            ],
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                {
                    "name": "COX6B1",
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                {
                    "name": "COX6B1",
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    "association_flag": "1000",
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}