{
    "disease_id": "DOID:0110912",
    "recommended_name": {
        "id": "DOID:0110912",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110912",
        "name": "leukocyte adhesion deficiency 3",
        "description": "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110912",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110912",
            "name": "IADD",
            "description": ""
        },
        {
            "id": "DOID:0110912",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110912",
            "name": "LAD1 variant",
            "description": ""
        },
        {
            "id": "DOID:0110912",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110912",
            "name": "LAD1V",
            "description": ""
        },
        {
            "id": "DOID:0110912",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110912",
            "name": "LAD3",
            "description": ""
        },
        {
            "id": "DOID:0110912",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110912",
            "name": "integrin activation deficiency disease",
            "description": ""
        },
        {
            "id": "DOID:0110912",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110912",
            "name": "leukocyte adhesion deficiency 1 variant",
            "description": ""
        },
        {
            "id": "DOID:0110912",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110912",
            "name": "leukocyte adhesion deficiency type III",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "leukocyte adhesion deficiency 3",
            "description": "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder."
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "FERMT3 leukocyte adhesion deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "IADD",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "LAD-III",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "LAD1V",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "LAD3",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "integrin activation deficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "lad-1 variant",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "lad-III",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "leukocyte adhesion deficiency 1 variant",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "leukocyte adhesion deficiency 3",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "leukocyte adhesion deficiency caused by mutation in FERMT3",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "leukocyte adhesion deficiency type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "leukocyte adhesion deficiency type III",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "leukocyte adhesion deficiency-1 variant",
            "description": ""
        },
        {
            "id": "MONDO:0013016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "name": "leukocyte adhesion deficiency, type III",
            "description": ""
        },
        {
            "id": "MIM:612840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612840",
            "name": "Leukocyte adhesion deficiency 3",
            "description": "Leukocyte adhesion deficiency 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110912"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110912",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110912",
            "categories": []
        },
        {
            "id": "MONDO:0013016",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013016",
            "categories": []
        },
        {
            "id": "MIM:612840",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612840",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M9Q9W5",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Fermitin family homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "fermitin family homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fermt3a",
                    "type": "recommended"
                },
                {
                    "name": "fermt3a",
                    "type": "synonym"
                }
            ],
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                }
            ]
        },
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            "uniprot_ac": "F1QPN5",
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                }
            ],
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                {
                    "name": "Fermitin family homolog 3b",
                    "type": "synonym"
                },
                {
                    "name": "fermitin family homolog 3b",
                    "type": "synonym"
                },
                {
                    "name": "fermitin family member 3b",
                    "type": "synonym"
                },
                {
                    "name": "kindlin-3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "fermt3b",
                    "type": "recommended"
                },
                {
                    "name": "fermt3b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64101",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110912",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110912"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8N7TAP0-1",
            "uniprot_ac": "A0A8N7TAP0",
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                }
            ],
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                {
                    "name": "RAS guanyl-releasing protein 2",
                    "type": "synonym"
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            ],
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                {
                    "name": "rasgrp2",
                    "type": "recommended"
                },
                {
                    "name": "rasgrp2",
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                }
            ],
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                    "id": "0110912",
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                }
            ]
        },
        {
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            "uniprot_ac": "Q9QUG9",
            "uniprot_id": "GRP2_MOUSE",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAS guanyl-releasing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CalDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "Calcium and DAG-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                },
                {
                    "name": "F25B3.3 kinase like protein",
                    "type": "synonym"
                },
                {
                    "name": "F25B3.3 kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "RAP 1A protein-specific guanine nucleotide exchange factor 1",
                    "type": "synonym"
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                {
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                    "type": "synonym"
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                {
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "Rasgrp2",
                    "type": "recommended"
                },
                {
                    "name": "CDC25L",
                    "type": "synonym"
                },
                {
                    "name": "CalDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "Caldaggef1",
                    "type": "synonym"
                },
                {
                    "name": "Rasgrp2",
                    "type": "synonym"
                }
            ],
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                    "id": "0110912",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110912"
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            ]
        },
        {
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            "uniprot_ac": "Q8K1B8",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Fermitin family homolog 3",
                    "type": "recommended"
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                },
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                    "name": "Unc-112-related protein 2",
                    "type": "synonym"
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                {
                    "name": "fermitin family homolog 3",
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                },
                {
                    "name": "unc-112-related protein 2",
                    "type": "synonym"
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            ],
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                {
                    "name": "Fermt3",
                    "type": "recommended"
                },
                {
                    "name": "Fermt3",
                    "type": "synonym"
                },
                {
                    "name": "Kind3",
                    "type": "synonym"
                },
                {
                    "name": "Kindlin3",
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                },
                {
                    "name": "Urp2",
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            ],
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                    "id": "0110912",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "fermitin family homolog 3",
                    "type": "synonym"
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                    "name": "fermitin family member 3",
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                    "name": "kindlin 3",
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                }
            ],
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                    "name": "FERMT3",
                    "type": "recommended"
                },
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                    "name": "FERMT3",
                    "type": "synonym"
                },
                {
                    "name": "KIND3",
                    "type": "synonym"
                },
                {
                    "name": "MIG-2",
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                {
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                {
                    "id": "0110912",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110912"
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            ]
        },
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            "uniprot_canonical_ac": "P07866-1",
            "uniprot_ac": "P07866",
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            "refseq_ac": "NP_009378",
            "glycoprotein": "yes",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Guanine nucleotide exchange factor LTE1",
                    "type": "recommended"
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                {
                    "name": "Low temperature essential protein 1",
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                    "name": "mitotic regulator LTE1",
                    "type": "synonym"
                }
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                    "name": "LTE1",
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                    "id": "0110912",
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                }
            ],
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                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                },
                {
                    "name": "olfactory receptor 1609",
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                },
                {
                    "name": "olfactory receptor Olr1609",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr1609",
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            ],
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                    "name": "Or4k6",
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                    "id": "0110912",
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                    "type": "recommended"
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                    "name": "RAS guanyl releasing protein 2 (calcium and DAG-regulated)",
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                    "id": "0110912",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG7729-PA",
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                    "name": "Fermitin 2",
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                    "name": "Fermitin2",
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                    "name": "Fit2-PA",
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                    "name": "fit2",
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            ],
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                    "id": "0110912",
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            ]
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        {
            "uniprot_canonical_ac": "Q9VZI3-1",
            "uniprot_ac": "Q9VZI3",
            "uniprot_id": "UN112_DROME",
            "refseq_ac": "NP_647858",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unc-112-related protein",
                    "type": "recommended"
                },
                {
                    "name": "CG14991-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fermitin-1",
                    "type": "synonym"
                },
                {
                    "name": "Fermitin1",
                    "type": "synonym"
                },
                {
                    "name": "Fit1-PB",
                    "type": "synonym"
                },
                {
                    "name": "fermitin 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "fermitin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fit1",
                    "type": "recommended"
                },
                {
                    "name": "CG14991",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14991",
                    "type": "synonym"
                },
                {
                    "name": "Fit 1",
                    "type": "synonym"
                },
                {
                    "name": "Fit1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.421",
                    "type": "synonym"
                },
                {
                    "name": "fit 1",
                    "type": "synonym"
                },
                {
                    "name": "fit1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZI3-1",
            "evidence": [
                {
                    "id": "0110912",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110912"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7LDG7-1",
            "uniprot_ac": "Q7LDG7",
            "uniprot_id": "GRP2_HUMAN",
            "refseq_ac": "NP_001092140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAS guanyl-releasing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CalDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "Calcium and DAG-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                },
                {
                    "name": "Cdc25-like protein",
                    "type": "synonym"
                },
                {
                    "name": "F25B3.3 kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl nucleotide-releasing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl releasing protein 2 (calcium and DAG-regulated)",
                    "type": "synonym"
                },
                {
                    "name": "RAS guanyl-releasing protein 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "calcium and DAG-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                },
                {
                    "name": "calcium and diacylglycerol-regulated guanine nucleotide exchange factor I",
                    "type": "synonym"
                },
                {
                    "name": "cdc25-like protein",
                    "type": "synonym"
                },
                {
                    "name": "guanine exchange factor MCG7",
                    "type": "synonym"
                },
                {
                    "name": "hCDC25L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RASGRP2",
                    "type": "recommended"
                },
                {
                    "name": "CALDAG-GEFI",
                    "type": "synonym"
                },
                {
                    "name": "CDC25L",
                    "type": "synonym"
                },
                {
                    "name": "MCG7",
                    "type": "synonym"
                },
                {
                    "name": "RASGRP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7LDG7-1",
            "evidence": [
                {
                    "id": "0110912",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110912"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110912"
}