{
    "disease_id": "DOID:0111138",
    "recommended_name": {
        "id": "DOID:0111138",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111138",
        "name": "congenital generalized lipodystrophy type 4",
        "description": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "congenital generalised lipodystrophy type 4",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "generalised congenital lipodystrophy type 4",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "generalised congenital lipodystrophy with myopathy",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "generalized congenital lipodystrophy type 4",
            "description": ""
        },
        {
            "id": "DOID:0111138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "name": "generalized congenital lipodystrophy with myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "congenital generalized lipodystrophy type 4",
            "description": "Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene."
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "BSCL4",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "CAVIN1 congenital generalised lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "CAVIN1 congenital generalized lipodystrophy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "CGL4",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "GCL4",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1",
            "description": ""
        },
        {
            "id": "MONDO:0013225",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "name": "lipodystrophy, congenital generalized, type 4",
            "description": ""
        },
        {
            "id": "MIM:613327",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613327",
            "name": "Lipodystrophy, congenital generalized, 4",
            "description": "Lipodystrophy, congenital generalized, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111138"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111138",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111138",
            "categories": []
        },
        {
            "id": "MONDO:0013225",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013225",
            "categories": []
        },
        {
            "id": "MIM:613327",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613327",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F0K3-1",
            "uniprot_ac": "E7F0K3",
            "uniprot_id": "E7F0K3_DANRE",
            "refseq_ac": "XP_001920702",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolae-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "caveolae-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cavin1a",
                    "type": "recommended"
                },
                {
                    "name": "cavin1a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F0K3-1",
            "evidence": [
                {
                    "id": "0111138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54724-1",
            "uniprot_ac": "O54724",
            "uniprot_id": "CAVN1_MOUSE",
            "refseq_ac": "NP_033012",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolae-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cav-p60",
                    "type": "synonym"
                },
                {
                    "name": "Cavin-1",
                    "type": "synonym"
                },
                {
                    "name": "Polymerase I and transcript release factor",
                    "type": "synonym"
                },
                {
                    "name": "caveolae-associated protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "caveolae-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cavin-1",
                    "type": "synonym"
                },
                {
                    "name": "polymerase I and transcript release factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cavin1",
                    "type": "recommended"
                },
                {
                    "name": "2310075E07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cav-p60",
                    "type": "synonym"
                },
                {
                    "name": "Cavin1",
                    "type": "synonym"
                },
                {
                    "name": "Cavin",
                    "type": "synonym"
                },
                {
                    "name": "Ptrf",
                    "type": "synonym"
                }
            ],
            "record_id": "O54724-1",
            "evidence": [
                {
                    "id": "0111138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NZI2-1",
            "uniprot_ac": "Q6NZI2",
            "uniprot_id": "CAVN1_HUMAN",
            "refseq_ac": "NP_036364",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolae-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cavin-1",
                    "type": "synonym"
                },
                {
                    "name": "Polymerase I and transcript release factor",
                    "type": "synonym"
                },
                {
                    "name": "RNA polymerase I and transcript release factor",
                    "type": "synonym"
                },
                {
                    "name": "TTF-I interacting peptide 12",
                    "type": "synonym"
                },
                {
                    "name": "caveolae-associated protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "congenital generalized lipodystrophy 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAVIN1",
                    "type": "recommended"
                },
                {
                    "name": "CAVIN1",
                    "type": "synonym"
                },
                {
                    "name": "CAVIN",
                    "type": "synonym"
                },
                {
                    "name": "CGL4",
                    "type": "synonym"
                },
                {
                    "name": "FKSG13",
                    "type": "synonym"
                },
                {
                    "name": "PTRF",
                    "type": "synonym"
                },
                {
                    "name": "cavin-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NZI2-1",
            "evidence": [
                {
                    "id": "613327",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613327"
                },
                {
                    "id": "0111138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P85125-1",
            "uniprot_ac": "P85125",
            "uniprot_id": "CAVN1_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": "Caveolae-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cavin-1",
                    "type": "synonym"
                },
                {
                    "name": "Polymerase I and transcript release factor",
                    "type": "synonym"
                },
                {
                    "name": "cav-p60",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cavin1",
                    "type": "recommended"
                },
                {
                    "name": "Ptrf",
                    "type": "synonym"
                }
            ],
            "record_id": "P85125-1",
            "evidence": [
                {
                    "id": "0111138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111138"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111138"
}