{
    "disease_id": "DOID:0070203",
    "recommended_name": {
        "id": "DOID:0070203",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070203",
        "name": "familial partial lipodystrophy type 5",
        "description": "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0070203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070203",
            "name": "CIDEC-related FPLD",
            "description": ""
        },
        {
            "id": "DOID:0070203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070203",
            "name": "FPLD5",
            "description": ""
        },
        {
            "id": "DOID:0070203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070203",
            "name": "familial partial lipodystrophy associated with CIDEC mutations",
            "description": ""
        },
        {
            "id": "MONDO:0014098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014098",
            "name": "CIDEC-related familial partial lipodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014098",
            "name": "CIDEC-related FPLD",
            "description": ""
        },
        {
            "id": "MONDO:0014098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014098",
            "name": "CIDEC-related familial partial lipodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014098",
            "name": "FPLD5",
            "description": ""
        },
        {
            "id": "MONDO:0014098",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014098",
            "name": "lipodystrophy, familial partial, type 5",
            "description": ""
        },
        {
            "id": "MIM:615238",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615238",
            "name": "Lipodystrophy, familial partial, 5",
            "description": "Lipodystrophy, familial partial, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070203"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070203",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070203",
            "categories": []
        },
        {
            "id": "MONDO:0014098",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014098",
            "categories": []
        },
        {
            "id": "MIM:615238",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615238",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P56198-1",
            "uniprot_ac": "P56198",
            "uniprot_id": "CIDEC_MOUSE",
            "refseq_ac": "NP_001288224",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipid transferase CIDEC",
                    "type": "recommended"
                },
                {
                    "name": "CIDE-3alpha",
                    "type": "synonym"
                },
                {
                    "name": "Cell death-inducing DFFA-like effector protein C",
                    "type": "synonym"
                },
                {
                    "name": "Fat-specific protein FSP27",
                    "type": "synonym"
                },
                {
                    "name": "cell death activator CIDE-3",
                    "type": "synonym"
                },
                {
                    "name": "cell death-inducing DFFA-like effector protein C",
                    "type": "synonym"
                },
                {
                    "name": "fat specific gene 27",
                    "type": "synonym"
                },
                {
                    "name": "fat-specific protein FSP27",
                    "type": "synonym"
                },
                {
                    "name": "lipid transferase CIDEC isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lipid transferase CIDEC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cidec",
                    "type": "recommended"
                },
                {
                    "name": "CIDE-3",
                    "type": "synonym"
                },
                {
                    "name": "Cidec",
                    "type": "synonym"
                },
                {
                    "name": "Fsp27",
                    "type": "synonym"
                }
            ],
            "record_id": "P56198-1",
            "evidence": [
                {
                    "id": "0070203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96AQ7-1",
            "uniprot_ac": "Q96AQ7",
            "uniprot_id": "CIDEC_HUMAN",
            "refseq_ac": "NP_001186480",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipid transferase CIDEC",
                    "type": "recommended"
                },
                {
                    "name": "Cell death activator CIDE-3",
                    "type": "synonym"
                },
                {
                    "name": "Cell death-inducing DFFA-like effector protein C",
                    "type": "synonym"
                },
                {
                    "name": "Fat-specific protein FSP27 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cell death activator CIDE-3",
                    "type": "synonym"
                },
                {
                    "name": "fat specific protein 27",
                    "type": "synonym"
                },
                {
                    "name": "lipid transferase CIDEC isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lipid transferase CIDEC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CIDEC",
                    "type": "recommended"
                },
                {
                    "name": "CIDE-3",
                    "type": "synonym"
                },
                {
                    "name": "CIDE3",
                    "type": "synonym"
                },
                {
                    "name": "CIDEC",
                    "type": "synonym"
                },
                {
                    "name": "FPLD5",
                    "type": "synonym"
                },
                {
                    "name": "FSP27",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96AQ7-1",
            "evidence": [
                {
                    "id": "615238",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615238"
                },
                {
                    "id": "0070203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XI33-1",
            "uniprot_ac": "Q5XI33",
            "uniprot_id": "CIDEC_RAT",
            "refseq_ac": "NP_001019504",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipid transferase CIDEC",
                    "type": "recommended"
                },
                {
                    "name": "Cell death-inducing DFFA-like effector protein C",
                    "type": "synonym"
                },
                {
                    "name": "Fat-specific protein FSP27",
                    "type": "synonym"
                },
                {
                    "name": "cell death activator CIDE-3",
                    "type": "synonym"
                },
                {
                    "name": "cell death-inducing DFFA-like effector protein C",
                    "type": "synonym"
                },
                {
                    "name": "fat-specific protein FSP27",
                    "type": "synonym"
                },
                {
                    "name": "lipid transferase CIDEC isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lipid transferase CIDEC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cidec",
                    "type": "recommended"
                },
                {
                    "name": "Cidec",
                    "type": "synonym"
                },
                {
                    "name": "Fsp27",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XI33-1",
            "evidence": [
                {
                    "id": "0070203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E9B7-1",
            "uniprot_ac": "Q0E9B7",
            "uniprot_id": "Q0E9B7_DROME",
            "refseq_ac": "NP_610722",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8364-PB",
                    "type": "synonym"
                },
                {
                    "name": "DNA fragmentation factor-related protein 3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "DNAation factor-related protein 3, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "DNAation factor-related protein 3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Drep3-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rep3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Drep3",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT08574",
                    "type": "synonym"
                },
                {
                    "name": "CG13187",
                    "type": "synonym"
                },
                {
                    "name": "CG8364",
                    "type": "synonym"
                },
                {
                    "name": "DREP-3",
                    "type": "synonym"
                },
                {
                    "name": "DREP3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8364",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8364",
                    "type": "synonym"
                },
                {
                    "name": "Drep-3",
                    "type": "synonym"
                },
                {
                    "name": "Drep3",
                    "type": "synonym"
                },
                {
                    "name": "Rep3",
                    "type": "synonym"
                },
                {
                    "name": "drep-3",
                    "type": "synonym"
                },
                {
                    "name": "drep3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E9B7-1",
            "evidence": [
                {
                    "id": "0070203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KFQ3-1",
            "uniprot_ac": "A0A0B4KFQ3",
            "uniprot_id": "A0A0B4KFQ3_DROME",
            "refseq_ac": "NP_001260909",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8357-PB",
                    "type": "synonym"
                },
                {
                    "name": "DFF45-related protein-1",
                    "type": "synonym"
                },
                {
                    "name": "DNA fragmentation factor-related protein 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "DNAation factor-related protein 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Drep1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rep1",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of CAD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Drep1",
                    "type": "recommended"
                },
                {
                    "name": "CG8357",
                    "type": "synonym"
                },
                {
                    "name": "DREP-1/dICAD",
                    "type": "synonym"
                },
                {
                    "name": "DREP-1",
                    "type": "synonym"
                },
                {
                    "name": "DREP1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8357",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8357",
                    "type": "synonym"
                },
                {
                    "name": "Drep-1",
                    "type": "synonym"
                },
                {
                    "name": "Drep1",
                    "type": "synonym"
                },
                {
                    "name": "ICAD/DREP-1",
                    "type": "synonym"
                },
                {
                    "name": "ICAD",
                    "type": "synonym"
                },
                {
                    "name": "Rep1",
                    "type": "synonym"
                },
                {
                    "name": "dICAD",
                    "type": "synonym"
                },
                {
                    "name": "drep1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KFQ3-1",
            "evidence": [
                {
                    "id": "0070203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070203"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070203"
}