{
    "disease_id": "DOID:0070206",
    "recommended_name": {
        "id": "DOID:0070206",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070206",
        "name": "familial partial lipodystrophy type 6",
        "description": "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070206",
            "name": "familial partial lipodystrophy associated with LIPE mutations",
            "description": ""
        },
        {
            "id": "DOID:0070206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070206",
            "name": "FPLD6",
            "description": ""
        },
        {
            "id": "DOID:0070206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070206",
            "name": "LIPE-related FPLD",
            "description": ""
        },
        {
            "id": "DOID:0070206",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070206",
            "name": "LIPE-related familial partial lipodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014431",
            "name": "LIPE-related familial partial lipodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014431",
            "name": "FPLD6",
            "description": ""
        },
        {
            "id": "MONDO:0014431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014431",
            "name": "LIPE-related FPLD",
            "description": ""
        },
        {
            "id": "MONDO:0014431",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014431",
            "name": "lipodystrophy, familial partial, type 6",
            "description": ""
        },
        {
            "id": "MIM:615980",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615980",
            "name": "Lipodystrophy, familial partial, 6",
            "description": "Lipodystrophy, familial partial, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070206"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070206",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070206",
            "categories": []
        },
        {
            "id": "MONDO:0014431",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014431",
            "categories": []
        },
        {
            "id": "MIM:615980",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615980",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AJ48-1",
            "uniprot_ac": "A0A8M3AJ48",
            "uniprot_id": "A0A8M3AJ48_DANRE",
            "refseq_ac": "XP_009290621",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hormone-sensitive lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.23",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.79",
                    "type": "synonym"
                },
                {
                    "name": "Monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "Retinyl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "hormone-sensitive lipase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lipeb",
                    "type": "recommended"
                },
                {
                    "name": "lipeb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AJ48-1",
            "evidence": [
                {
                    "id": "0070206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A3KPJ7-1",
            "uniprot_ac": "A3KPJ7",
            "uniprot_id": "A3KPJ7_DANRE",
            "refseq_ac": "NP_001303654",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hormone-sensitive lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.23",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.79",
                    "type": "synonym"
                },
                {
                    "name": "Monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "Retinyl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "hormone-sensitive lipase",
                    "type": "synonym"
                },
                {
                    "name": "lipase, hormone-sensitive a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lipea",
                    "type": "recommended"
                },
                {
                    "name": "hsl",
                    "type": "synonym"
                },
                {
                    "name": "lipea",
                    "type": "synonym"
                },
                {
                    "name": "lipe",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-3n22.7",
                    "type": "synonym"
                }
            ],
            "record_id": "A3KPJ7-1",
            "evidence": [
                {
                    "id": "0070206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54310-1",
            "uniprot_ac": "P54310",
            "uniprot_id": "LIPS_MOUSE",
            "refseq_ac": "NP_001034596",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hormone-sensitive lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.23",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.79",
                    "type": "synonym"
                },
                {
                    "name": "HSL",
                    "type": "synonym"
                },
                {
                    "name": "Monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "REH",
                    "type": "synonym"
                },
                {
                    "name": "Retinyl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "hormone-sensitive lipase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hormone-sensitive lipase",
                    "type": "synonym"
                },
                {
                    "name": "lipase, hormone sensitive",
                    "type": "synonym"
                },
                {
                    "name": "monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "retinyl ester hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lipe",
                    "type": "recommended"
                },
                {
                    "name": "4933403G17Rik",
                    "type": "synonym"
                },
                {
                    "name": "HSL",
                    "type": "synonym"
                },
                {
                    "name": "Lipe",
                    "type": "synonym"
                },
                {
                    "name": "REH",
                    "type": "synonym"
                }
            ],
            "record_id": "P54310-1",
            "evidence": [
                {
                    "id": "0070206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05469-1",
            "uniprot_ac": "Q05469",
            "uniprot_id": "LIPS_HUMAN",
            "refseq_ac": "NP_005348",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hormone-sensitive lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.23",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.79",
                    "type": "synonym"
                },
                {
                    "name": "HSL",
                    "type": "synonym"
                },
                {
                    "name": "Monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "REH",
                    "type": "synonym"
                },
                {
                    "name": "Retinyl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "hormone-sensitive lipase isoform 11",
                    "type": "synonym"
                },
                {
                    "name": "hormone-sensitive lipase",
                    "type": "synonym"
                },
                {
                    "name": "lipase, hormone-sensitive",
                    "type": "synonym"
                },
                {
                    "name": "monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "retinyl ester hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LIPE",
                    "type": "recommended"
                },
                {
                    "name": "AOMS4",
                    "type": "synonym"
                },
                {
                    "name": "FPLD6",
                    "type": "synonym"
                },
                {
                    "name": "HSL",
                    "type": "synonym"
                },
                {
                    "name": "LHS",
                    "type": "synonym"
                },
                {
                    "name": "LIPE",
                    "type": "synonym"
                },
                {
                    "name": "REH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05469-1",
            "evidence": [
                {
                    "id": "615980",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615980"
                },
                {
                    "id": "0070206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15304-1",
            "uniprot_ac": "P15304",
            "uniprot_id": "LIPS_RAT",
            "refseq_ac": "NP_036991",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hormone-sensitive lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.23",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.79",
                    "type": "synonym"
                },
                {
                    "name": "HSL",
                    "type": "synonym"
                },
                {
                    "name": "Monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "REH",
                    "type": "synonym"
                },
                {
                    "name": "Retinyl ester hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "hormone-sensitive lipase",
                    "type": "synonym"
                },
                {
                    "name": "lipase, hormone sensitive",
                    "type": "synonym"
                },
                {
                    "name": "monoacylglycerol lipase LIPE",
                    "type": "synonym"
                },
                {
                    "name": "retinyl ester hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lipe",
                    "type": "recommended"
                },
                {
                    "name": "HSL",
                    "type": "synonym"
                },
                {
                    "name": "Lipe",
                    "type": "synonym"
                },
                {
                    "name": "REH",
                    "type": "synonym"
                }
            ],
            "record_id": "P15304-1",
            "evidence": [
                {
                    "id": "0070206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42658-1",
            "uniprot_ac": "P42658",
            "uniprot_id": "DPP6_HUMAN",
            "refseq_ac": "NP_570629",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type potassium channel modulatory protein DPP6",
                    "type": "recommended"
                },
                {
                    "name": "A-type potassium channel modulatory protein DPP6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "A-type potassium channel modulatory protein DPP6",
                    "type": "synonym"
                },
                {
                    "name": "DPP VI",
                    "type": "synonym"
                },
                {
                    "name": "DPPX",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl aminopeptidase-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl aminopeptidase-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase 6",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase IV-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dipeptidyl peptidase VI",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl aminopeptidase IV-related protein",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl aminopeptidase-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase IV-related protein",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl peptidase VI",
                    "type": "synonym"
                },
                {
                    "name": "dipeptidyl-peptidase 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPP6",
                    "type": "recommended"
                },
                {
                    "name": "DPL1",
                    "type": "synonym"
                },
                {
                    "name": "DPP6",
                    "type": "synonym"
                },
                {
                    "name": "DPPX",
                    "type": "synonym"
                },
                {
                    "name": "MRD33",
                    "type": "synonym"
                },
                {
                    "name": "VF2",
                    "type": "synonym"
                }
            ],
            "record_id": "P42658-1",
            "evidence": [
                {
                    "id": "0070206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070206"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070206"
}