{
    "disease_id": "DOID:0110779",
    "recommended_name": {
        "id": "DOID:0110779",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110779",
        "name": "hereditary spastic paraplegia 28",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110779",
            "name": "SPG28",
            "description": ""
        },
        {
            "id": "DOID:0110779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110779",
            "name": "autosomal recessive spastic paraplegia 28",
            "description": ""
        },
        {
            "id": "DOID:0110779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110779",
            "name": "autosomal recessive spastic paraplegia type 28",
            "description": ""
        },
        {
            "id": "MONDO:0012256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012256",
            "name": "hereditary spastic paraplegia 28",
            "description": "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs."
        },
        {
            "id": "MONDO:0012256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012256",
            "name": "DDHD1 autosomal recessive pure spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0012256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012256",
            "name": "SPG28",
            "description": ""
        },
        {
            "id": "MONDO:0012256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012256",
            "name": "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1",
            "description": ""
        },
        {
            "id": "MONDO:0012256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012256",
            "name": "autosomal recessive spastic paraplegia type 28",
            "description": ""
        },
        {
            "id": "MONDO:0012256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012256",
            "name": "hereditary spastic paraplegia 28",
            "description": ""
        },
        {
            "id": "MONDO:0012256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012256",
            "name": "hereditary spastic paraplegia type 28",
            "description": ""
        },
        {
            "id": "MONDO:0012256",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012256",
            "name": "spastic paraplegia 28, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:609340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609340",
            "name": "Spastic paraplegia 28, autosomal recessive",
            "description": "Spastic paraplegia 28, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110779"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110779",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110779",
            "categories": []
        },
        {
            "id": "MONDO:0012256",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012256",
            "categories": []
        },
        {
            "id": "MIM:609340",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609340",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q5VSC8",
            "uniprot_id": "Q5VSC8_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "DDHD domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase DDHD1b",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ddhd1b",
                    "type": "recommended"
                },
                {
                    "name": "ddhd1b",
                    "type": "synonym"
                },
                {
                    "name": "ddhd1",
                    "type": "synonym"
                },
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                    "name": "si:dkey-29m11.6",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-63j12.5",
                    "type": "synonym"
                }
            ],
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                    "id": "0110779",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110779"
                }
            ]
        },
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            "uniprot_ac": "Q80YA3",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
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                }
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                {
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                    "type": "synonym"
                },
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                    "name": "3.1.1.118",
                    "type": "synonym"
                },
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                    "name": "3.1.1.32",
                    "type": "synonym"
                },
                {
                    "name": "DDHD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PA-PLA1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidic acid-preferring phospholipase A1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipid sn-1 acylhydrolase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidic acid-preferring phospholipase A1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid sn-1 acylhydrolase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Ddhd1",
                    "type": "recommended"
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                {
                    "name": "Ddhd1",
                    "type": "synonym"
                },
                {
                    "name": "Mir5131",
                    "type": "synonym"
                },
                {
                    "name": "PA-PLA1",
                    "type": "synonym"
                }
            ],
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                    "id": "0110779",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Y98-1",
            "uniprot_ac": "Q80Y98",
            "uniprot_id": "DDHD2_MOUSE",
            "refseq_ac": "NP_082378",
            "glycoprotein": "yes",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Triacylglycerol hydrolase DDHD2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.3",
                    "type": "synonym"
                },
                {
                    "name": "DDHD domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "SAM, WWE and DDHD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TAG hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Triglyceride hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "Triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol hydrolase DDHD2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "triglyceride hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "triglyceride lipase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ddhd2",
                    "type": "recommended"
                },
                {
                    "name": "2010305K11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ddhd2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0725",
                    "type": "synonym"
                },
                {
                    "name": "SAMWD1",
                    "type": "synonym"
                },
                {
                    "name": "Samwd1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0725",
                    "type": "synonym"
                }
            ],
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                    "id": "0110779",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110779"
                }
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            "uniprot_ac": "Q6NZC7",
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            "glycoprotein": "yes",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "SEC23-interacting protein",
                    "type": "recommended"
                }
            ],
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                {
                    "name": "Sec23ip",
                    "type": "recommended"
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                    "id": "0110779",
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            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEL9-1",
            "uniprot_ac": "Q8NEL9",
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            "refseq_ac": "NP_001153619",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Phospholipase DDHD1",
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                },
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                    "name": "3.1.1.111",
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                },
                {
                    "name": "3.1.1.118",
                    "type": "synonym"
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                {
                    "name": "3.1.1.32",
                    "type": "synonym"
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                    "name": "DDHD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PA-PLA1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidic acid-preferring phospholipase A1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipid sn-1 acylhydrolase",
                    "type": "synonym"
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                    "name": "intracellular phospholipase A1 alpha",
                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "phosphatidic acid-preferring phospholipase A1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid sn-1 acylhydrolase",
                    "type": "synonym"
                },
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                    "name": "spastic paraplegia 28 (autosomal recessive)",
                    "type": "synonym"
                }
            ],
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                    "name": "DDHD1",
                    "type": "recommended"
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                    "name": "DDHD1",
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                    "type": "synonym"
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                    "name": "PA-PLA1",
                    "type": "synonym"
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                    "name": "iPLA1alpha",
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                    "id": "0110779",
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        {
            "uniprot_canonical_ac": "Q12204-1",
            "uniprot_ac": "Q12204",
            "uniprot_id": "YOR22_YEAST",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Probable phospholipase YOR022C, mitochondrial",
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                {
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                    "id": "0110779",
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                    "id": "0110779",
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                }
            ],
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                    "name": "Ddhd2",
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                    "name": "SEC23-interacting protein",
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                    "id": "0110779",
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                    "name": "Drosophila melanogaster",
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                }
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                    "name": "phosphatidic acid phospholipase A1, isoform A",
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                    "name": "phosphatidic acid phospholipase A1",
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                    "name": "CG8552",
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                    "name": "DmTGL",
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                {
                    "name": "Dmel\\CG8552",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG8552",
                    "type": "synonym"
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                {
                    "name": "PAPLA1",
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                {
                    "name": "PAP",
                    "type": "synonym"
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                {
                    "name": "Sec23-IP",
                    "type": "synonym"
                }
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                    "id": "0110779",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110779"
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Triacylglycerol hydrolase DDHD2",
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                    "name": "3.1.1.-",
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                    "name": "3.1.1.3",
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                    "name": "DDHD domain-containing protein 2",
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                {
                    "name": "KIAA0725p",
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                    "name": "PA-PLA1 like",
                    "type": "synonym"
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                {
                    "name": "Phospholipase DDHD2",
                    "type": "synonym"
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                {
                    "name": "SAM, WWE and DDHD domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TAG hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Triglyceride hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "Triglyceride lipase",
                    "type": "synonym"
                },
                {
                    "name": "intracellular phospholipase A1gamma",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol hydrolase DDHD2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "triacylglycerol hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "triglyceride hydrolase DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "triglyceride lipase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDHD2",
                    "type": "recommended"
                },
                {
                    "name": "DDHD2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0725",
                    "type": "synonym"
                },
                {
                    "name": "SAMWD1",
                    "type": "synonym"
                },
                {
                    "name": "SPG54",
                    "type": "synonym"
                },
                {
                    "name": "iPLA(1)gamma",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1A",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1gamma",
                    "type": "synonym"
                },
                {
                    "name": "p125B",
                    "type": "synonym"
                }
            ],
            "record_id": "O94830-1",
            "evidence": [
                {
                    "id": "0110779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6Y8-1",
            "uniprot_ac": "Q9Y6Y8",
            "uniprot_id": "S23IP_HUMAN",
            "refseq_ac": "NP_009121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SEC23-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "SEC23-interacting protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "intracellular phospholipase A1 beta",
                    "type": "synonym"
                },
                {
                    "name": "p125",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC23IP",
                    "type": "recommended"
                },
                {
                    "name": "MSTP053",
                    "type": "synonym"
                },
                {
                    "name": "P125A",
                    "type": "synonym"
                },
                {
                    "name": "P125",
                    "type": "synonym"
                },
                {
                    "name": "SEC23IP",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1A",
                    "type": "synonym"
                },
                {
                    "name": "iPLA1beta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6Y8-1",
            "evidence": [
                {
                    "id": "0110779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110779"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110779"
}