{
    "disease_id": "DOID:0060327",
    "recommended_name": {
        "id": "DOID:0060327",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060327",
        "name": "omphalocele",
        "description": "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac."
    },
    "synonyms": [
        {
            "id": "DOID:0060327",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060327",
            "name": "omphalocoele",
            "description": ""
        },
        {
            "id": "DOID:0060327",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060327",
            "name": "exomphalos",
            "description": ""
        },
        {
            "id": "MONDO:0008124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008124",
            "name": "omphalocele, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0008124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008124",
            "name": "omphalocele due to duplication of 1p31.3, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0008124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008124",
            "name": "omphalocele, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0008124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008124",
            "name": "paraomphalocele",
            "description": ""
        },
        {
            "id": "MONDO:0008124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008124",
            "name": "type - epigastric - defect in the cephalic fold",
            "description": ""
        },
        {
            "id": "MONDO:0008124",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008124",
            "name": "type - hypogastric - defect in the caudal fold",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060327"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060327",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060327",
            "categories": []
        },
        {
            "id": "MONDO:0008124",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008124",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PTJ2-1",
            "uniprot_ac": "A0A8M9PTJ2",
            "uniprot_id": "A0A8M9PTJ2_DANRE",
            "refseq_ac": "XP_021325646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-density lipoprotein receptor-related protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "low-density lipoprotein receptor-related protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrp1ab",
                    "type": "recommended"
                },
                {
                    "name": "lrp1ab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PTJ2-1",
            "evidence": [
                {
                    "id": "0060327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZX7-1",
            "uniprot_ac": "Q91ZX7",
            "uniprot_id": "LRP1_MOUSE",
            "refseq_ac": "NP_032538",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolow-density lipoprotein receptor-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "A2MR",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2-macroglobulin receptor",
                    "type": "synonym"
                },
                {
                    "name": "LRP-1",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2-macroglobulin receptor",
                    "type": "synonym"
                },
                {
                    "name": "prolow-density lipoprotein receptor-related protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "prolow-density lipoprotein receptor-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp1",
                    "type": "recommended"
                },
                {
                    "name": "A2mr",
                    "type": "synonym"
                },
                {
                    "name": "CD91",
                    "type": "synonym"
                },
                {
                    "name": "Lrp1",
                    "type": "synonym"
                },
                {
                    "name": "Lrp",
                    "type": "synonym"
                },
                {
                    "name": "b2b1554Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZX7-1",
            "evidence": [
                {
                    "id": "0060327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V928-1",
            "uniprot_ac": "G3V928",
            "uniprot_id": "LRP1_RAT",
            "refseq_ac": "NP_001123962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolow-density lipoprotein receptor-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "LRP-1",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)",
                    "type": "synonym"
                },
                {
                    "name": "prolow-density lipoprotein receptor-related protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "prolow-density lipoprotein receptor-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrp1",
                    "type": "recommended"
                },
                {
                    "name": "LRP-1",
                    "type": "synonym"
                },
                {
                    "name": "Lrp1",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V928-1",
            "evidence": [
                {
                    "id": "0060327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KFD1-1",
            "uniprot_ac": "A0A0B4KFD1",
            "uniprot_id": "A0A0B4KFD1_DROME",
            "refseq_ac": "NP_001260800",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33087-PF",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor protein 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor protein",
                    "type": "synonym"
                },
                {
                    "name": "LDL receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "LDL-receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "LRP1-PF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP1",
                    "type": "recommended"
                },
                {
                    "name": "CG30368",
                    "type": "synonym"
                },
                {
                    "name": "CG33087",
                    "type": "synonym"
                },
                {
                    "name": "CG8706",
                    "type": "synonym"
                },
                {
                    "name": "CT9297",
                    "type": "synonym"
                },
                {
                    "name": "Dm CG33087",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33087",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33087",
                    "type": "synonym"
                },
                {
                    "name": "LRP-1",
                    "type": "synonym"
                },
                {
                    "name": "LRP1",
                    "type": "synonym"
                },
                {
                    "name": "Lrp1",
                    "type": "synonym"
                },
                {
                    "name": "dmLRP1",
                    "type": "synonym"
                },
                {
                    "name": "lrp1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KFD1-1",
            "evidence": [
                {
                    "id": "0060327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07954-1",
            "uniprot_ac": "Q07954",
            "uniprot_id": "LRP1_HUMAN",
            "refseq_ac": "NP_002323",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolow-density lipoprotein receptor-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "A2MR",
                    "type": "synonym"
                },
                {
                    "name": "APOER",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-2-macroglobulin receptor",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein E receptor",
                    "type": "synonym"
                },
                {
                    "name": "LRP-1",
                    "type": "synonym"
                },
                {
                    "name": "TbetaR-V/LRP-1/IGFBP-3 receptor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-macroglobulin receptor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein E receptor",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "prolow-density lipoprotein receptor-related protein 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "prolow-density lipoprotein receptor-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "type V tgf-beta receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRP1",
                    "type": "recommended"
                },
                {
                    "name": "A2MR",
                    "type": "synonym"
                },
                {
                    "name": "APOER",
                    "type": "synonym"
                },
                {
                    "name": "APR",
                    "type": "synonym"
                },
                {
                    "name": "CD91",
                    "type": "synonym"
                },
                {
                    "name": "DDH3",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP-3R",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP3R1",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP3R",
                    "type": "synonym"
                },
                {
                    "name": "KPA",
                    "type": "synonym"
                },
                {
                    "name": "LRP1A",
                    "type": "synonym"
                },
                {
                    "name": "LRP1",
                    "type": "synonym"
                },
                {
                    "name": "LRP",
                    "type": "synonym"
                },
                {
                    "name": "TGFBR5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07954-1",
            "evidence": [
                {
                    "id": "0060327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060327"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060327"
}