{
    "disease_id": "DOID:0111137",
    "recommended_name": {
        "id": "DOID:0111137",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111137",
        "name": "congenital generalized lipodystrophy type 3",
        "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111137",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111137",
            "name": "Berardinelli-Seip congenital lipodystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "congenital generalized lipodystrophy type 3",
            "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene."
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "BSCL3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "CAV1 congenital generalised lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "CAV1 congenital generalized lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "CGL3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "congenital generalised lipodystrophy (disease) caused by mutation in CAV1",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "congenital generalized lipodystrophy (disease) caused by mutation in CAV1",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "lipodystrophy, congenital generalized, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "name": "type 3 Berardinelli-Seip congenital lipodystrophy",
            "description": ""
        },
        {
            "id": "MIM:612526",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612526",
            "name": "Lipodystrophy, congenital generalized, 3",
            "description": "Lipodystrophy, congenital generalized, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111137"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111137",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111137",
            "categories": []
        },
        {
            "id": "MONDO:0012923",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012923",
            "categories": []
        },
        {
            "id": "MIM:612526",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612526",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6YLH9-1",
            "uniprot_ac": "Q6YLH9",
            "uniprot_id": "Q6YLH9_DANRE",
            "refseq_ac": "NP_997816",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin",
                    "type": "recommended"
                },
                {
                    "name": "caveolin-1 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cav1",
                    "type": "recommended"
                },
                {
                    "name": "cav1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc07c04",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6YLH9-1",
            "evidence": [
                {
                    "id": "0111137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49817-1",
            "uniprot_ac": "P49817",
            "uniprot_id": "CAV1_MOUSE",
            "refseq_ac": "NP_001229993",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin-1",
                    "type": "recommended"
                },
                {
                    "name": "caveolin, caveolae protein 1",
                    "type": "synonym"
                },
                {
                    "name": "caveolin, caveolae protein, 22 kDa",
                    "type": "synonym"
                },
                {
                    "name": "caveolin-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "caveolin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cav1",
                    "type": "recommended"
                },
                {
                    "name": "Cav-1",
                    "type": "synonym"
                },
                {
                    "name": "Cav1",
                    "type": "synonym"
                },
                {
                    "name": "Cav",
                    "type": "synonym"
                }
            ],
            "record_id": "P49817-1",
            "evidence": [
                {
                    "id": "0111137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03135-1",
            "uniprot_ac": "Q03135",
            "uniprot_id": "CAV1_HUMAN",
            "refseq_ac": "NP_001744",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin-1",
                    "type": "recommended"
                },
                {
                    "name": "caveolin 1, caveolae protein, 22kDa",
                    "type": "synonym"
                },
                {
                    "name": "caveolin-1 isoform alpha",
                    "type": "synonym"
                },
                {
                    "name": "cell growth-inhibiting protein 32",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAV1",
                    "type": "recommended"
                },
                {
                    "name": "BSCL3",
                    "type": "synonym"
                },
                {
                    "name": "CAV1",
                    "type": "synonym"
                },
                {
                    "name": "CAV",
                    "type": "synonym"
                },
                {
                    "name": "CGL3",
                    "type": "synonym"
                },
                {
                    "name": "LCCNS",
                    "type": "synonym"
                },
                {
                    "name": "MSTP085",
                    "type": "synonym"
                },
                {
                    "name": "PPH3",
                    "type": "synonym"
                },
                {
                    "name": "VIP21",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03135-1",
            "evidence": [
                {
                    "id": "612526",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612526"
                },
                {
                    "id": "0111137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41350-1",
            "uniprot_ac": "P41350",
            "uniprot_id": "CAV1_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": "Caveolin-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cav1",
                    "type": "recommended"
                },
                {
                    "name": "Cav",
                    "type": "synonym"
                }
            ],
            "record_id": "P41350-1",
            "evidence": [
                {
                    "id": "0111137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14854-1",
            "uniprot_ac": "P14854",
            "uniprot_id": "CX6B1_HUMAN",
            "refseq_ac": "NP_001854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6B1",
                    "type": "recommended"
                },
                {
                    "name": "COX VIb-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit VIb isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX6B1",
                    "type": "recommended"
                },
                {
                    "name": "COX6B1",
                    "type": "synonym"
                },
                {
                    "name": "COX6B",
                    "type": "synonym"
                },
                {
                    "name": "COXG",
                    "type": "synonym"
                },
                {
                    "name": "COXVIb1",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN7",
                    "type": "synonym"
                }
            ],
            "record_id": "P14854-1",
            "evidence": [
                {
                    "id": "0111137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111137"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111137"
}