{
    "disease_id": "DOID:0050562",
    "recommended_name": {
        "id": "DOID:0050562",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050562",
        "name": "West syndrome",
        "description": "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability."
    },
    "synonyms": [],
    "children": [],
    "id_list": [
        "DOID:0050562"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050562",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050562",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "Q7ZTA2",
            "uniprot_id": "Q7ZTA2_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Melanocyte-stimulating hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "Melanocortin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropic hormone receptor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "mc2r",
                    "type": "recommended"
                },
                {
                    "name": "mc2r",
                    "type": "synonym"
                }
            ],
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                }
            ]
        },
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                {
                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "name": "Syntaxin-binding protein 1",
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                },
                {
                    "name": "Protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog A",
                    "type": "synonym"
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                {
                    "name": "syntaxin-binding protein 1a isoform X1",
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                }
            ],
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                {
                    "name": "stxbp1a",
                    "type": "recommended"
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                {
                    "name": "fj43h10",
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                {
                    "name": "stxbp1a",
                    "type": "synonym"
                },
                {
                    "name": "stxbp1",
                    "type": "synonym"
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                    "name": "wu:fj36d12",
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                },
                {
                    "name": "wu:fj43h10",
                    "type": "synonym"
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                {
                    "name": "zgc:114171",
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                }
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                {
                    "id": "0050562",
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                }
            ]
        },
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                }
            ],
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                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
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                    "name": "(S)-3-amino-2-methylpropionate transaminase",
                    "type": "synonym"
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                    "name": "2.6.1.19",
                    "type": "synonym"
                },
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                    "name": "2.6.1.22",
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                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
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                    "name": "GABA aminotransferase",
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                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
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                    "name": "L-AIBAT",
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                }
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                    "name": "abat",
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                },
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                    "name": "cb880",
                    "type": "synonym"
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                    "name": "fj82a01",
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                {
                    "name": "wu:fj82a01",
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            ],
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                }
            ]
        },
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                }
            ],
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                {
                    "name": "Adrenocorticotropin receptor",
                    "type": "synonym"
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                    "name": "MC2-R",
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                },
                {
                    "name": "Melanocortin receptor 2",
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                {
                    "name": "adrenocorticotropic hormone receptor",
                    "type": "synonym"
                },
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                    "name": "adrenocorticotropin receptor",
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                    "name": "melanocortin receptor 2",
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                    "name": "Mc2r",
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                    "name": "ACTH-R",
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                    "name": "ACTHR",
                    "type": "synonym"
                },
                {
                    "name": "Acthr",
                    "type": "synonym"
                },
                {
                    "name": "MC2-R",
                    "type": "synonym"
                },
                {
                    "name": "Mc2r",
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                }
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                {
                    "id": "0050562",
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                {
                    "name": "Mus musculus",
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                }
            ],
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                {
                    "name": "Syntaxin-binding protein 1",
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                    "name": "Protein unc-18 homolog 1",
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                    "name": "Protein unc-18 homolog A",
                    "type": "synonym"
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                    "name": "UNC-18 homolog",
                    "type": "synonym"
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                    "name": "Unc-18A",
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                },
                {
                    "name": "Unc18-1",
                    "type": "synonym"
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                {
                    "name": "minisatellite 10g detected by probe MMS10",
                    "type": "synonym"
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                    "name": "protein unc-18 homolog 1",
                    "type": "synonym"
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                    "name": "protein unc-18 homolog A",
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                {
                    "name": "syntaxin-binding protein 1 isoform a",
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                    "name": "unc-18-1",
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                    "name": "Stxbp1",
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                    "name": "Ms10g",
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                    "name": "Munc-18a",
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                    "name": "Munc18-1",
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                    "name": "Rb-sec1",
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                    "name": "Stxbp1",
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                {
                    "name": "Sxtbp1",
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                    "name": "Unc18h",
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                    "id": "0050562",
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                    "name": "GTPase Guf1",
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                {
                    "name": "GUF1 GTPase homolog",
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                    "name": "Ribosomal back-translocase",
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                    "name": "ribosomal back-translocase",
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                    "name": "translation factor Guf1, mitochondrial isoform 2",
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                    "name": "Guf1",
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                    "id": "0050562",
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                    "name": "Gm9851",
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                    "id": "0050562",
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                {
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                    "name": "n-cofilin",
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                    "name": "Cfl1",
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                    "id": "0050562",
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                    "id": "0050562",
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                    "name": "4-aminobutyrate aminotransferase",
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                    "name": "4-aminobutyrate transaminase",
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                    "name": "Gamma-amino-N-butyrate transaminase",
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                    "id": "0050562",
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                }
            ],
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                    "name": "Cofilin",
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                {
                    "name": "Actin-depolymerizing factor 1",
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                {
                    "name": "cofilin",
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                    "name": "L0596",
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            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45592-1",
            "uniprot_ac": "P45592",
            "uniprot_id": "COF1_RAT",
            "refseq_ac": "NP_058843",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cofilin-1",
                    "type": "recommended"
                },
                {
                    "name": "Cofilin, non-muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "cofilin 1, non-muscle",
                    "type": "synonym"
                },
                {
                    "name": "cofilin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfl1",
                    "type": "recommended"
                },
                {
                    "name": "Cfl1",
                    "type": "synonym"
                }
            ],
            "record_id": "P45592-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50554-1",
            "uniprot_ac": "P50554",
            "uniprot_id": "GABT_RAT",
            "refseq_ac": "NP_112265",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "(S)-3-amino-2-methylpropionate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.22",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "GABA aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA-AT",
                    "type": "synonym"
                },
                {
                    "name": "GABA-T",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "L-AIBAT",
                    "type": "synonym"
                },
                {
                    "name": "beta-AlaAT I",
                    "type": "synonym"
                },
                {
                    "name": "gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abat",
                    "type": "recommended"
                },
                {
                    "name": "Abat",
                    "type": "synonym"
                },
                {
                    "name": "Gabat",
                    "type": "synonym"
                },
                {
                    "name": "beta-AlaAT",
                    "type": "synonym"
                }
            ],
            "record_id": "P50554-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M454-1",
            "uniprot_ac": "A0ABK0M454",
            "uniprot_id": "A0ABK0M454_RAT",
            "refseq_ac": "NP_001093961",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adrenocorticotropic hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "Adrenocorticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "Melanocortin receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "melanocortin 2 receptor (adrenocorticotropic hormone)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mc2r",
                    "type": "recommended"
                },
                {
                    "name": "Mc2r",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M454-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61765-1",
            "uniprot_ac": "P61765",
            "uniprot_id": "STXB1_RAT",
            "refseq_ac": "NP_037170",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "N-Sec1",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Unc-18A",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-1",
                    "type": "synonym"
                },
                {
                    "name": "p67",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "rbSec1",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "unc-18 homolog",
                    "type": "synonym"
                },
                {
                    "name": "unc-18-1",
                    "type": "synonym"
                },
                {
                    "name": "unc-18A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stxbp1",
                    "type": "recommended"
                },
                {
                    "name": "ANC18HA",
                    "type": "synonym"
                },
                {
                    "name": "Munc18-1",
                    "type": "synonym"
                },
                {
                    "name": "NSEC1A",
                    "type": "synonym"
                },
                {
                    "name": "Sec1",
                    "type": "synonym"
                },
                {
                    "name": "Stxbp1",
                    "type": "synonym"
                },
                {
                    "name": "Unc18-1",
                    "type": "synonym"
                },
                {
                    "name": "Unc18a",
                    "type": "synonym"
                },
                {
                    "name": "n-sec1",
                    "type": "synonym"
                },
                {
                    "name": "nSec1",
                    "type": "synonym"
                },
                {
                    "name": "rbSec1A",
                    "type": "synonym"
                },
                {
                    "name": "rbSec1B",
                    "type": "synonym"
                },
                {
                    "name": "rbSec1",
                    "type": "synonym"
                }
            ],
            "record_id": "P61765-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZHF8-1",
            "uniprot_ac": "D3ZHF8",
            "uniprot_id": "D3ZHF8_RAT",
            "refseq_ac": "NP_001100685",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP binding elongation factor GUF1",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein GUF1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GUF1 GTPase homolog",
                    "type": "synonym"
                },
                {
                    "name": "GUF1 homolog, GTPase",
                    "type": "synonym"
                },
                {
                    "name": "translation factor GUF1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Guf1",
                    "type": "recommended"
                },
                {
                    "name": "Guf1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310774",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZHF8-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07327-1",
            "uniprot_ac": "Q07327",
            "uniprot_id": "ROP_DROME",
            "refseq_ac": "NP_001261404",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein ROP",
                    "type": "recommended"
                },
                {
                    "name": "CG15811-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ras opposite, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rop-PB",
                    "type": "synonym"
                },
                {
                    "name": "ras opposite",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rop",
                    "type": "recommended"
                },
                {
                    "name": "CG15811",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15811",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15811",
                    "type": "synonym"
                },
                {
                    "name": "ROP",
                    "type": "synonym"
                },
                {
                    "name": "Rop",
                    "type": "synonym"
                },
                {
                    "name": "SEC1",
                    "type": "synonym"
                },
                {
                    "name": "Unc18",
                    "type": "synonym"
                },
                {
                    "name": "cs1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)64Ah",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SH16",
                    "type": "synonym"
                },
                {
                    "name": "ras2",
                    "type": "synonym"
                },
                {
                    "name": "rop(Sec1)",
                    "type": "synonym"
                },
                {
                    "name": "rop",
                    "type": "synonym"
                },
                {
                    "name": "sec1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07327-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRH6-1",
            "uniprot_ac": "Q9VRH6",
            "uniprot_id": "GUF1_DROME",
            "refseq_ac": "NP_001027089",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation factor waclaw, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "CG1410-PA",
                    "type": "synonym"
                },
                {
                    "name": "EF-4",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTPase GUF1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal back-translocase",
                    "type": "synonym"
                },
                {
                    "name": "waclaw",
                    "type": "synonym"
                },
                {
                    "name": "waw-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "waw",
                    "type": "recommended"
                },
                {
                    "name": "CG1410",
                    "type": "synonym"
                },
                {
                    "name": "CG32527",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1410",
                    "type": "synonym"
                },
                {
                    "name": "anon-19Fb",
                    "type": "synonym"
                },
                {
                    "name": "tu2",
                    "type": "synonym"
                },
                {
                    "name": "waw",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRH6-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW68-1",
            "uniprot_ac": "Q9VW68",
            "uniprot_id": "Q9VW68_DROME",
            "refseq_ac": "NP_001163479",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "(S)-3-amino-2-methylpropionate transaminase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.22",
                    "type": "synonym"
                },
                {
                    "name": "CG7433-PC",
                    "type": "synonym"
                },
                {
                    "name": "GABA aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transaminase",
                    "type": "synonym"
                },
                {
                    "name": "Gabat-PC",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-aminobutyric acid transaminase isoform A",
                    "type": "synonym"
                },
                {
                    "name": "L-AIBAT",
                    "type": "synonym"
                },
                {
                    "name": "gamma aminobutyric acid transaminase",
                    "type": "synonym"
                },
                {
                    "name": "gamma aminobutyric acid",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid transaminase, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gabat",
                    "type": "recommended"
                },
                {
                    "name": "149085_at",
                    "type": "synonym"
                },
                {
                    "name": "CG7433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7433",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7433",
                    "type": "synonym"
                },
                {
                    "name": "GABAT",
                    "type": "synonym"
                },
                {
                    "name": "GABA",
                    "type": "synonym"
                },
                {
                    "name": "Gabat",
                    "type": "synonym"
                },
                {
                    "name": "Q9VW68",
                    "type": "synonym"
                },
                {
                    "name": "gabat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW68-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45594-1",
            "uniprot_ac": "P45594",
            "uniprot_id": "CADF_DROME",
            "refseq_ac": "NP_477034",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cofilin/actin-depolymerizing factor homolog",
                    "type": "recommended"
                },
                {
                    "name": "ADFcofilin",
                    "type": "synonym"
                },
                {
                    "name": "CG4254-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cofilin/actin depolymerizing factor-like",
                    "type": "synonym"
                },
                {
                    "name": "DCofilin",
                    "type": "synonym"
                },
                {
                    "name": "Protein D61",
                    "type": "synonym"
                },
                {
                    "name": "Protein twinstar",
                    "type": "synonym"
                },
                {
                    "name": "actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "cofilin",
                    "type": "synonym"
                },
                {
                    "name": "no terminal filament",
                    "type": "synonym"
                },
                {
                    "name": "tsr-PA",
                    "type": "synonym"
                },
                {
                    "name": "twin star",
                    "type": "synonym"
                },
                {
                    "name": "twinstar",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tsr",
                    "type": "recommended"
                },
                {
                    "name": "12/8",
                    "type": "synonym"
                },
                {
                    "name": "ADF/cofilin",
                    "type": "synonym"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "Adf",
                    "type": "synonym"
                },
                {
                    "name": "CG4254",
                    "type": "synonym"
                },
                {
                    "name": "Cadf",
                    "type": "synonym"
                },
                {
                    "name": "Cfl",
                    "type": "synonym"
                },
                {
                    "name": "Cofilin",
                    "type": "synonym"
                },
                {
                    "name": "D-cof",
                    "type": "synonym"
                },
                {
                    "name": "D61",
                    "type": "synonym"
                },
                {
                    "name": "DmCFL",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4254",
                    "type": "synonym"
                },
                {
                    "name": "T8",
                    "type": "synonym"
                },
                {
                    "name": "Tsr",
                    "type": "synonym"
                },
                {
                    "name": "Twinstar",
                    "type": "synonym"
                },
                {
                    "name": "cfl",
                    "type": "synonym"
                },
                {
                    "name": "cofilin/ADF",
                    "type": "synonym"
                },
                {
                    "name": "cofilin/actin depolymerizing factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "cofilin",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03101",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k03101",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k05633",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k13409",
                    "type": "synonym"
                },
                {
                    "name": "ntf",
                    "type": "synonym"
                },
                {
                    "name": "tsr",
                    "type": "synonym"
                }
            ],
            "record_id": "P45594-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49356-1",
            "uniprot_ac": "P49356",
            "uniprot_id": "FNTB_HUMAN",
            "refseq_ac": "NP_001189487",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein farnesyltransferase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.58",
                    "type": "synonym"
                },
                {
                    "name": "CAAX farnesyltransferase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "CHURC1-FNTB protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "FTase-beta",
                    "type": "synonym"
                },
                {
                    "name": "Ras proteins prenyltransferase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FNTB",
                    "type": "recommended"
                },
                {
                    "name": "CHURC1-FNTB",
                    "type": "synonym"
                },
                {
                    "name": "FTase-beta",
                    "type": "synonym"
                }
            ],
            "record_id": "P49356-1",
            "evidence": [
                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N442-1",
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                {
                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation factor GUF1, mitochondrial",
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                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "EF-4",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein GUF1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GTPase GUF1",
                    "type": "synonym"
                },
                {
                    "name": "GTPase of unknown function 1",
                    "type": "synonym"
                },
                {
                    "name": "GUF1 homolog, GTPase",
                    "type": "synonym"
                },
                {
                    "name": "Ribosomal back-translocase",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal back-translocase",
                    "type": "synonym"
                },
                {
                    "name": "translation factor GUF1, mitochondrial isoform 1",
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                },
                {
                    "name": "translation factor GUF1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUF1",
                    "type": "recommended"
                },
                {
                    "name": "DEE40",
                    "type": "synonym"
                },
                {
                    "name": "EF-4",
                    "type": "synonym"
                },
                {
                    "name": "EF4",
                    "type": "synonym"
                },
                {
                    "name": "EIEE40",
                    "type": "synonym"
                },
                {
                    "name": "GUF1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050562",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80404-1",
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
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                },
                {
                    "name": "(S)-3-amino-2-methylpropionate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.19",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.22",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor",
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                },
                {
                    "name": "4-aminobutyrate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "4-aminobutyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transaminase",
                    "type": "synonym"
                },
                {
                    "name": "GABA transferase",
                    "type": "synonym"
                },
                {
                    "name": "GABA-AT",
                    "type": "synonym"
                },
                {
                    "name": "GABA-T",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "L-AIBAT",
                    "type": "synonym"
                },
                {
                    "name": "gamma-amino-N-butyrate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyrate aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABAT",
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                },
                {
                    "name": "ABAT",
                    "type": "synonym"
                },
                {
                    "name": "GABA-AT",
                    "type": "synonym"
                },
                {
                    "name": "GABAT",
                    "type": "synonym"
                },
                {
                    "name": "NPD009",
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                }
            ],
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                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23528-1",
            "uniprot_ac": "P23528",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cofilin-1",
                    "type": "recommended"
                },
                {
                    "name": "18 kDa phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Cofilin, non-muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "cofilin 1 (non-muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cofilin-1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 15",
                    "type": "synonym"
                },
                {
                    "name": "p18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFL1",
                    "type": "recommended"
                },
                {
                    "name": "CFL1",
                    "type": "synonym"
                },
                {
                    "name": "CFL",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-15",
                    "type": "synonym"
                },
                {
                    "name": "cofilin",
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                }
            ],
            "record_id": "P23528-1",
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                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61764-1",
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                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-binding protein 1",
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                },
                {
                    "name": "MUNC18-1",
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                {
                    "name": "N-Sec1",
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                },
                {
                    "name": "Protein unc-18 homolog 1",
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                },
                {
                    "name": "Protein unc-18 homolog A",
                    "type": "synonym"
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                {
                    "name": "Unc-18A",
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                {
                    "name": "Unc18-1",
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                {
                    "name": "neuronal SEC1",
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                },
                {
                    "name": "p67",
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                },
                {
                    "name": "protein unc-18 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein unc-18 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-binding protein 1 isoform b",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "STXBP1",
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                },
                {
                    "name": "DEE4",
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                },
                {
                    "name": "MUNC18-1",
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                },
                {
                    "name": "N-Sec1",
                    "type": "synonym"
                },
                {
                    "name": "NSEC1",
                    "type": "synonym"
                },
                {
                    "name": "P67",
                    "type": "synonym"
                },
                {
                    "name": "RBSEC1",
                    "type": "synonym"
                },
                {
                    "name": "STXBP1",
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                },
                {
                    "name": "UNC18A",
                    "type": "synonym"
                },
                {
                    "name": "UNC18",
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                },
                {
                    "name": "unc-18A",
                    "type": "synonym"
                },
                {
                    "name": "unc18-1",
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                }
            ],
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                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
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            "uniprot_canonical_ac": "Q01718-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Adrenocorticotropic hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "ACTH receptor",
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                },
                {
                    "name": "ACTH-R",
                    "type": "synonym"
                },
                {
                    "name": "Adrenocorticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "MC2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "MC2-R",
                    "type": "synonym"
                },
                {
                    "name": "Melanocortin receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "corticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "melanocortin 2 receptor (adrenocorticotropic hormone)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MC2R",
                    "type": "recommended"
                },
                {
                    "name": "ACTHR",
                    "type": "synonym"
                },
                {
                    "name": "MC2R",
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                }
            ],
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                {
                    "id": "0050562",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050562"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050562"
}