{
    "disease_id": "DOID:0070205",
    "recommended_name": {
        "id": "DOID:0070205",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070205",
        "name": "familial partial lipodystrophy type 4",
        "description": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "DOID:0070205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070205",
            "name": "FPLD4",
            "description": ""
        },
        {
            "id": "DOID:0070205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070205",
            "name": "PLIN1-related FPLD",
            "description": ""
        },
        {
            "id": "DOID:0070205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070205",
            "name": "PLIN1-related familial partial lipodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0070205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070205",
            "name": "familial partial lipodystrophy associated with PLIN1 mutations",
            "description": ""
        },
        {
            "id": "MONDO:0013478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013478",
            "name": "PLIN1-related familial partial lipodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013478",
            "name": "FPLD4",
            "description": ""
        },
        {
            "id": "MONDO:0013478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013478",
            "name": "PLIN1-related FPLD",
            "description": ""
        },
        {
            "id": "MONDO:0013478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013478",
            "name": "FPLD due to PLIN1 mutations",
            "description": ""
        },
        {
            "id": "MONDO:0013478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013478",
            "name": "familial partial lipodystrophy associated with PLIN1 mutations",
            "description": ""
        },
        {
            "id": "MONDO:0013478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013478",
            "name": "familial partial lipodystrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013478",
            "name": "lipodystrophy, familial partial, type 4",
            "description": ""
        },
        {
            "id": "MIM:613877",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613877",
            "name": "Lipodystrophy, familial partial, 4",
            "description": "Lipodystrophy, familial partial, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070205"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070205",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070205",
            "categories": []
        },
        {
            "id": "MONDO:0013478",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013478",
            "categories": []
        },
        {
            "id": "MIM:613877",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613877",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PFT8-1",
            "uniprot_ac": "A0A8M9PFT8",
            "uniprot_id": "A0A8M9PFT8_DANRE",
            "refseq_ac": "XP_021323484",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Perilipin-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "perilipin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "plin1",
                    "type": "recommended"
                },
                {
                    "name": "plin1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PFT8-1",
            "evidence": [
                {
                    "id": "0070205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CGN5-1",
            "uniprot_ac": "Q8CGN5",
            "uniprot_id": "PLIN1_MOUSE",
            "refseq_ac": "NP_001106942",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Perilipin-1",
                    "type": "recommended"
                },
                {
                    "name": "Lipid droplet-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Perilipin A",
                    "type": "synonym"
                },
                {
                    "name": "lipid droplet-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "perilipin A",
                    "type": "synonym"
                },
                {
                    "name": "perilipin B",
                    "type": "synonym"
                },
                {
                    "name": "perilipin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plin1",
                    "type": "recommended"
                },
                {
                    "name": "6030432J05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Peri",
                    "type": "synonym"
                },
                {
                    "name": "Plin1",
                    "type": "synonym"
                },
                {
                    "name": "Plin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGN5-1",
            "evidence": [
                {
                    "id": "0070205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60240-1",
            "uniprot_ac": "O60240",
            "uniprot_id": "PLIN1_HUMAN",
            "refseq_ac": "NP_001138783",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Perilipin-1",
                    "type": "recommended"
                },
                {
                    "name": "Lipid droplet-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "lipid droplet-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "perilipin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLIN1",
                    "type": "recommended"
                },
                {
                    "name": "FPLD4",
                    "type": "synonym"
                },
                {
                    "name": "PERI",
                    "type": "synonym"
                },
                {
                    "name": "PLIN1",
                    "type": "synonym"
                },
                {
                    "name": "PLIN",
                    "type": "synonym"
                }
            ],
            "record_id": "O60240-1",
            "evidence": [
                {
                    "id": "613877",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613877"
                },
                {
                    "id": "0070205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43884-1",
            "uniprot_ac": "P43884",
            "uniprot_id": "PLIN1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Perilipin-1",
                    "type": "recommended"
                },
                {
                    "name": "Lipid droplet-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plin1",
                    "type": "recommended"
                },
                {
                    "name": "Peri",
                    "type": "synonym"
                },
                {
                    "name": "Plin",
                    "type": "synonym"
                }
            ],
            "record_id": "P43884-1",
            "evidence": [
                {
                    "id": "0070205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXY7-1",
            "uniprot_ac": "Q9VXY7",
            "uniprot_id": "LSD2_DROME",
            "refseq_ac": "NP_572996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipid storage droplets surface-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CG9057-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lipid-storage Droplet-2",
                    "type": "synonym"
                },
                {
                    "name": "Lsd-2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lsd2",
                    "type": "synonym"
                },
                {
                    "name": "Perilipin2",
                    "type": "synonym"
                },
                {
                    "name": "lipid storage droplet 2 gene",
                    "type": "synonym"
                },
                {
                    "name": "lipid storage droplet 2",
                    "type": "synonym"
                },
                {
                    "name": "lipid storage droplet protein 2",
                    "type": "synonym"
                },
                {
                    "name": "lipid storage droplet-2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "lipid storage droplet-2",
                    "type": "synonym"
                },
                {
                    "name": "perilipin-2",
                    "type": "synonym"
                },
                {
                    "name": "perilipin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lsd-2",
                    "type": "recommended"
                },
                {
                    "name": "145098_at",
                    "type": "synonym"
                },
                {
                    "name": "CG9057",
                    "type": "synonym"
                },
                {
                    "name": "DmPLIN2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9057",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9057",
                    "type": "synonym"
                },
                {
                    "name": "LSD-2",
                    "type": "synonym"
                },
                {
                    "name": "LSD2",
                    "type": "synonym"
                },
                {
                    "name": "LSD",
                    "type": "synonym"
                },
                {
                    "name": "LSP-2",
                    "type": "synonym"
                },
                {
                    "name": "Lsd-2",
                    "type": "synonym"
                },
                {
                    "name": "Lsd2",
                    "type": "synonym"
                },
                {
                    "name": "PLIN2",
                    "type": "synonym"
                },
                {
                    "name": "Plin2",
                    "type": "synonym"
                },
                {
                    "name": "dPlin2",
                    "type": "synonym"
                },
                {
                    "name": "dmPLIN2",
                    "type": "synonym"
                },
                {
                    "name": "lsd-2",
                    "type": "synonym"
                },
                {
                    "name": "lsd2",
                    "type": "synonym"
                },
                {
                    "name": "plin2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXY7-1",
            "evidence": [
                {
                    "id": "0070205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070205"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070205"
}