{
    "disease_id": "DOID:0110735",
    "recommended_name": {
        "id": "DOID:0110735",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110735",
        "name": "neurodegeneration with brain iron accumulation 2a",
        "description": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life."
    },
    "synonyms": [
        {
            "id": "DOID:0110735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110735",
            "name": "INAD1",
            "description": ""
        },
        {
            "id": "DOID:0110735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110735",
            "name": "Infantile Neuroaxonal Dystrophy 1",
            "description": ""
        },
        {
            "id": "DOID:0110735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110735",
            "name": "NBIA2a",
            "description": ""
        },
        {
            "id": "DOID:0110735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110735",
            "name": "Neurodegeneration, Pla2g6-Associated",
            "description": ""
        },
        {
            "id": "DOID:0110735",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110735",
            "name": "Seitelberger Disease",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "neurodegeneration with brain iron accumulation 2A",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "Seitelberger disease",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "INAD",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "NBIA2A",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "NBIA2a",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "PLAN",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "inaD",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "infantile neuroaxonal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "neurodegeneration with brain iron accumulation 2A",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "neurodegeneration with brain iron accumulation type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "neurodegeneration with brain iron accumulation type 2a",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "neurodegeneration, PLA2G6-associated",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "neurodegeneration, Pla2G6-associated",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "neurodegeneration, Pla2g6-associated",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "phospholipase A2-associated neurodegeneration",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "Hunter Carpenter Macdonald syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "Hunter-Carpenter-McDonald syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "INAD1",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "KARAK syndrome, included",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0024457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "name": "neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene",
            "description": ""
        },
        {
            "id": "MIM:256600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256600",
            "name": "Neurodegeneration with brain iron accumulation 2A",
            "description": "Neurodegeneration with brain iron accumulation 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110735"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110735",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110735",
            "categories": []
        },
        {
            "id": "MONDO:0024457",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024457",
            "categories": []
        },
        {
            "id": "MIM:256600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256600",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "A0AC58IDZ9-1",
            "uniprot_ac": "A0AC58IDZ9",
            "uniprot_id": "A0AC58IDZ9_DANRE",
            "refseq_ac": "XP_073792472",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "phospholipase A2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "85/88 kDa calcium-independent phospholipase A2 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "pla2g6",
                    "type": "recommended"
                },
                {
                    "name": "pla2g6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc06g09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77476",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IDZ9-1",
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                {
                    "id": "0110735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97819-1",
            "uniprot_ac": "P97819",
            "uniprot_id": "PLPL9_MOUSE",
            "refseq_ac": "NP_001185952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "85/88 kDa calcium-independent phospholipase A2",
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                },
                {
                    "name": "2-lysophosphatidylcholine acylhydrolase",
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                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.5",
                    "type": "synonym"
                },
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                    "name": "3.1.2.2",
                    "type": "synonym"
                },
                {
                    "name": "85 kDa calcium-independent phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "85/88 kDa calcium-independent phospholipase A2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "85/88 kDa calcium-independent phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "CaI-PLA2",
                    "type": "synonym"
                },
                {
                    "name": "GVI PLA2",
                    "type": "synonym"
                },
                {
                    "name": "Group VI phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "Intracellular membrane-associated calcium-independent phospholipase A2 beta",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA9",
                    "type": "synonym"
                },
                {
                    "name": "Palmitoyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 9",
                    "type": "synonym"
                },
                {
                    "name": "caI-PLA2",
                    "type": "synonym"
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                {
                    "name": "group VI phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2-beta",
                    "type": "synonym"
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                {
                    "name": "intracellular membrane-associated calcium-independent phospholipase A2 beta",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyl-CoA hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "patatin-like phospholipase domain-containing protein 9",
                    "type": "synonym"
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            ],
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                {
                    "name": "Pla2g6",
                    "type": "recommended"
                },
                {
                    "name": "PNPLA9",
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                },
                {
                    "name": "Pla2g6",
                    "type": "synonym"
                },
                {
                    "name": "Pnpla9",
                    "type": "synonym"
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                {
                    "name": "iPLA(2)beta",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2beta",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2",
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                }
            ],
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                    "id": "0110735",
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            ]
        },
        {
            "uniprot_canonical_ac": "O60733-1",
            "uniprot_ac": "O60733",
            "uniprot_id": "PLPL9_HUMAN",
            "refseq_ac": "NP_001004426",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "85/88 kDa calcium-independent phospholipase A2",
                    "type": "recommended"
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                {
                    "name": "2-lysophosphatidylcholine acylhydrolase",
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                },
                {
                    "name": "3.1.1.4",
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                {
                    "name": "3.1.2.2",
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                {
                    "name": "85 kDa calcium-independent phospholipase A2",
                    "type": "synonym"
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                {
                    "name": "85/88 kDa calcium-independent phospholipase A2 isoform b",
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                {
                    "name": "85/88 kDa calcium-independent phospholipase A2",
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                {
                    "name": "GVI PLA2",
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                {
                    "name": "Group VI phospholipase A2",
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                {
                    "name": "Intracellular membrane-associated calcium-independent phospholipase A2 beta",
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                    "name": "PNPLA9",
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                {
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                    "name": "neurodegeneration with brain iron accumulation 2",
                    "type": "synonym"
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                    "name": "palmitoyl-CoA hydrolase",
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                {
                    "name": "patatin-like phospholipase domain-containing protein 9",
                    "type": "synonym"
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                    "name": "phospholipase A2, group VI (cytosolic, calcium-independent)",
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                    "name": "PLA2G6",
                    "type": "recommended"
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                {
                    "name": "GVI",
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                {
                    "name": "INAD1",
                    "type": "synonym"
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                {
                    "name": "IPLA2-VIA",
                    "type": "synonym"
                },
                {
                    "name": "NBIA2A",
                    "type": "synonym"
                },
                {
                    "name": "NBIA2B",
                    "type": "synonym"
                },
                {
                    "name": "NBIA2",
                    "type": "synonym"
                },
                {
                    "name": "PARK14",
                    "type": "synonym"
                },
                {
                    "name": "PLA2G6",
                    "type": "synonym"
                },
                {
                    "name": "PLA2",
                    "type": "synonym"
                },
                {
                    "name": "PLPLA9",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA9",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2beta",
                    "type": "synonym"
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                {
                    "name": "iPLA2",
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                {
                    "id": "256600",
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                },
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                    "id": "0110735",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97570-1",
            "uniprot_ac": "P97570",
            "uniprot_id": "PLPL9_RAT",
            "refseq_ac": "NP_001005560",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "85/88 kDa calcium-independent phospholipase A2",
                    "type": "recommended"
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                {
                    "name": "2-lysophosphatidylcholine acylhydrolase",
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                    "name": "3.1.1.5",
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                {
                    "name": "3.1.2.2",
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                {
                    "name": "85 kDa calcium-independent phospholipase A2",
                    "type": "synonym"
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                {
                    "name": "85/88 kDa calcium-independent phospholipase A2 isoform 1",
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                {
                    "name": "85/88 kDa calcium-independent phospholipase A2",
                    "type": "synonym"
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                    "name": "CaI-PLA2",
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                {
                    "name": "GVI PLA2",
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                {
                    "name": "Group VI phospholipase A2",
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                {
                    "name": "Intracellular membrane-associated calcium-independent phospholipase A2 beta",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA9",
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                    "name": "Palmitoyl-CoA hydrolase",
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                },
                {
                    "name": "Patatin-like phospholipase domain-containing protein 9",
                    "type": "synonym"
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                    "name": "iPLA2-beta",
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                    "name": "intracellular membrane-associated calcium-independent phospholipase A2 beta",
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                    "name": "palmitoyl-CoA hydrolase",
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                    "name": "patatin-like phospholipase domain-containing protein 9",
                    "type": "synonym"
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                {
                    "name": "phospholipase A2, group VI (cytosolic, calcium-independent)",
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                }
            ],
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                    "name": "Pla2g6",
                    "type": "recommended"
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                {
                    "name": "GVI PLA2",
                    "type": "synonym"
                },
                {
                    "name": "PNPLA9",
                    "type": "synonym"
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                {
                    "name": "Pla2g6",
                    "type": "synonym"
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                {
                    "name": "Pnpla9",
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                {
                    "name": "caI-PLA2",
                    "type": "synonym"
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                {
                    "name": "iPLA2-beta",
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                {
                    "name": "iPla2",
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            ],
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                    "id": "0110735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110735"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KUD4-1",
            "uniprot_ac": "Q7KUD4",
            "uniprot_id": "Q7KUD4_DROME",
            "refseq_ac": "NP_729565",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "phospholipase A2",
                    "type": "recommended"
                },
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                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "CG6718-PB",
                    "type": "synonym"
                },
                {
                    "name": "calcium-independent phospholipase A2 VIA, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2-VIA-PB",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase A[[2]]",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "iPLA2-VIA",
                    "type": "recommended"
                },
                {
                    "name": "CG6718",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6718",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6718",
                    "type": "synonym"
                },
                {
                    "name": "PLA2G6",
                    "type": "synonym"
                },
                {
                    "name": "diPLA2-VIA",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2-VIA",
                    "type": "synonym"
                },
                {
                    "name": "iPLA2beta",
                    "type": "synonym"
                },
                {
                    "name": "iPLA[[2]]-VIA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KUD4-1",
            "evidence": [
                {
                    "id": "0110735",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110735"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110735"
}