{
    "disease_id": "DOID:0111135",
    "recommended_name": {
        "id": "DOID:0111135",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111135",
        "name": "congenital generalized lipodystrophy type 1",
        "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111135",
            "name": "Berardinelli-Seip Congenital Lipodystrophy, Type 1",
            "description": ""
        },
        {
            "id": "DOID:0111135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111135",
            "name": "Brunzell syndrome AGPAT2-related",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "congenital generalized lipodystrophy type 1",
            "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene."
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "AGPAT2 congenital generalised lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "AGPAT2 congenital generalized lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "BSCL1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "Berardinelli-Seip congenital lipodystrophy, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "CGL1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "congenital generalized lipodystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "AGPAT2-related Brunzell syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "Berardinelli-Seip congenital lipodystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "name": "lipodystrophy, congenital generalized, type 1",
            "description": ""
        },
        {
            "id": "MIM:608594",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608594",
            "name": "Lipodystrophy, congenital generalized, 1",
            "description": "Lipodystrophy, congenital generalized, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111135"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111135",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111135",
            "categories": []
        },
        {
            "id": "MONDO:0012071",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012071",
            "categories": []
        },
        {
            "id": "MIM:608594",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608594",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K3K7-1",
            "uniprot_ac": "Q8K3K7",
            "uniprot_id": "PLCB_MOUSE",
            "refseq_ac": "NP_080488",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta",
                    "type": "recommended"
                },
                {
                    "name": "1-AGP acyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "1-AGPAT 2",
                    "type": "synonym"
                },
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)",
                    "type": "synonym"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "LPAAT-beta",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidic acid acyltransferase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agpat2",
                    "type": "recommended"
                },
                {
                    "name": "1-AGPAT 2",
                    "type": "synonym"
                },
                {
                    "name": "2510002J07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Agpat2",
                    "type": "synonym"
                },
                {
                    "name": "BSCL1",
                    "type": "synonym"
                },
                {
                    "name": "BSCL",
                    "type": "synonym"
                },
                {
                    "name": "LPAAB",
                    "type": "synonym"
                },
                {
                    "name": "LPAAT-beta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3K7-1",
            "evidence": [
                {
                    "id": "0111135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15120-1",
            "uniprot_ac": "O15120",
            "uniprot_id": "PLCB_HUMAN",
            "refseq_ac": "NP_001012745",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta",
                    "type": "recommended"
                },
                {
                    "name": "1-AGP acyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "1-AGPAT 2",
                    "type": "synonym"
                },
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform b",
                    "type": "synonym"
                },
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)",
                    "type": "synonym"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "LPAAT-beta",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidic acid acyltransferase beta",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidic acid acyltransferase-beta",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipid acyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 143",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AGPAT2",
                    "type": "recommended"
                },
                {
                    "name": "1-AGPAT2",
                    "type": "synonym"
                },
                {
                    "name": "AGPAT2",
                    "type": "synonym"
                },
                {
                    "name": "BSCL1",
                    "type": "synonym"
                },
                {
                    "name": "BSCL",
                    "type": "synonym"
                },
                {
                    "name": "LPAAB",
                    "type": "synonym"
                },
                {
                    "name": "LPAAT-beta",
                    "type": "synonym"
                },
                {
                    "name": "LPLAT2",
                    "type": "synonym"
                }
            ],
            "record_id": "O15120-1",
            "evidence": [
                {
                    "id": "608594",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608594"
                },
                {
                    "id": "0111135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33333-1",
            "uniprot_ac": "P33333",
            "uniprot_id": "PLSC_YEAST",
            "refseq_ac": "NP_010231",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "1-AGP acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "1-AGPAT",
                    "type": "synonym"
                },
                {
                    "name": "1-acylglycerol-3-phosphate O-acyltransferase SLC1",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.23",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.n7",
                    "type": "synonym"
                },
                {
                    "name": "LPAAT",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidic acid acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Sphingolipid compensation protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC1",
                    "type": "recommended"
                },
                {
                    "name": "SLC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P33333-1",
            "evidence": [
                {
                    "id": "0111135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AC45-1",
            "uniprot_ac": "D4AC45",
            "uniprot_id": "D4AC45_RAT",
            "refseq_ac": "XP_038961130",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase beta isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agpat2",
                    "type": "recommended"
                },
                {
                    "name": "Agpat2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AC45-1",
            "evidence": [
                {
                    "id": "0111135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KTI0-1",
            "uniprot_ac": "Q7KTI0",
            "uniprot_id": "Q7KTI0_DROME",
            "refseq_ac": "NP_001162912",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "1-Acylglycerol-3-phosphate O-acyltransferase 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "Agpat2-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG17608-PC",
                    "type": "synonym"
                },
                {
                    "name": "fu12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agpat2",
                    "type": "recommended"
                },
                {
                    "name": "2",
                    "type": "synonym"
                },
                {
                    "name": "AGPAT1",
                    "type": "synonym"
                },
                {
                    "name": "AGPAT2",
                    "type": "synonym"
                },
                {
                    "name": "AGPAT",
                    "type": "synonym"
                },
                {
                    "name": "Agpat2",
                    "type": "synonym"
                },
                {
                    "name": "CG17608",
                    "type": "synonym"
                },
                {
                    "name": "DmAGPAT1/2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17608",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17608",
                    "type": "synonym"
                },
                {
                    "name": "dAGPAT2",
                    "type": "synonym"
                },
                {
                    "name": "fu12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KTI0-1",
            "evidence": [
                {
                    "id": "0111135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYJ4-1",
            "uniprot_ac": "Q9VYJ4",
            "uniprot_id": "Q9VYJ4_DROME",
            "refseq_ac": "NP_001259494",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-acyl-sn-glycerol-3-phosphate acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "1-Acylglycerol-3-phosphate O-acyltransferase 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.51",
                    "type": "synonym"
                },
                {
                    "name": "Agpat1-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG3812-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agpat1",
                    "type": "recommended"
                },
                {
                    "name": "2",
                    "type": "synonym"
                },
                {
                    "name": "AGPAT1",
                    "type": "synonym"
                },
                {
                    "name": "AGPAT2",
                    "type": "synonym"
                },
                {
                    "name": "AGPAT",
                    "type": "synonym"
                },
                {
                    "name": "Agpat1",
                    "type": "synonym"
                },
                {
                    "name": "CG3812",
                    "type": "synonym"
                },
                {
                    "name": "DmAGPAT1/2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3812",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3812",
                    "type": "synonym"
                },
                {
                    "name": "dAGPAT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYJ4-1",
            "evidence": [
                {
                    "id": "0111135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111135"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111135"
}