{
    "disease_id": "DOID:0050454",
    "recommended_name": {
        "id": "DOID:0050454",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050454",
        "name": "periventricular nodular heterotopia",
        "description": "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain."
    },
    "synonyms": [
        {
            "id": "DOID:0050454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050454",
            "name": "periventricular heterotopia",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "heterotopia, periventricular, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "heterotopia, periventricular, 1, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "heterotopia, periventricular, Ehlers-Danlos variant",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "heterotopia, periventricular, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "BPNH",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "NHBP",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "PVNH1",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "X-linked periventricular heterotopia",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "bilateral periventricular nodular heterotopia",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "heterotopia familial nodular",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "heterotopia periventricular X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "nodular heterotopia bilateral periventricular",
            "description": ""
        },
        {
            "id": "MONDO:0010233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "name": "periventricular nodular heterotopia 4",
            "description": ""
        },
        {
            "id": "MIM:300049",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300049",
            "name": "Periventricular nodular heterotopia 1",
            "description": "Periventricular nodular heterotopia 1"
        }
    ],
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        {
            "id": "DOID:0061245",
            "label": "periventricular nodular heterotopia 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061246",
            "label": "periventricular nodular heterotopia 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061269",
            "label": "periventricular nodular heterotopia 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061270",
            "label": "periventricular nodular heterotopia 7",
            "link_status": true,
            "children": []
        }
    ],
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        "DOID:0061269",
        "DOID:0061245",
        "DOID:0061270",
        "DOID:0050454"
    ],
    "unlinked_id_list": [],
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            "id": "DOID:0050454",
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            "url": "https://disease-ontology.org/term/DOID:0050454",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0010233",
            "categories": []
        },
        {
            "id": "MIM:300049",
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            "url": "https://www.omim.org/entry/300049",
            "categories": []
        }
    ],
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                }
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                }
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        },
        {
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            ],
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                    "name": "Alpha-filamin",
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                {
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                },
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                    "name": "FLN-A",
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                    "name": "Filamin-1",
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                {
                    "name": "Non-muscle filamin",
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                    "name": "actin-binding protein 280",
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                {
                    "name": "dilated pupils 2",
                    "type": "synonym"
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                {
                    "name": "endothelial actin-binding protein",
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                {
                    "name": "filamin-A isoform 3",
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                {
                    "name": "non-muscle filamin",
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                    "name": "Dilp2",
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                {
                    "name": "F730004A14Rik",
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                    "name": "Fln1",
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                }
            ],
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                },
                {
                    "name": "Dmel_CG8385",
                    "type": "synonym"
                },
                {
                    "name": "P61209",
                    "type": "synonym"
                },
                {
                    "name": "arf1",
                    "type": "synonym"
                },
                {
                    "name": "d-Arf1",
                    "type": "synonym"
                },
                {
                    "name": "dARF79F",
                    "type": "synonym"
                },
                {
                    "name": "dARFI",
                    "type": "synonym"
                },
                {
                    "name": "dArf1",
                    "type": "synonym"
                },
                {
                    "name": "dArf79F",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJW1-1",
            "uniprot_ac": "Q9VJW1",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG7578-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sec71 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Sec71-PA",
                    "type": "synonym"
                },
                {
                    "name": "Secretory 71",
                    "type": "synonym"
                },
                {
                    "name": "secretory 71",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec71",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS00797.7",
                    "type": "synonym"
                },
                {
                    "name": "BIG1",
                    "type": "synonym"
                },
                {
                    "name": "CG7578",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7578",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7578",
                    "type": "synonym"
                },
                {
                    "name": "Sec71",
                    "type": "synonym"
                },
                {
                    "name": "sec71",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W596-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Microtubule-associated protein futsch",
                    "type": "recommended"
                },
                {
                    "name": "CG34387-PC",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B homolog",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B-like",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B",
                    "type": "synonym"
                },
                {
                    "name": "futch",
                    "type": "synonym"
                },
                {
                    "name": "futsch, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "futsch-PC",
                    "type": "synonym"
                },
                {
                    "name": "omb-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "futsch",
                    "type": "recommended"
                },
                {
                    "name": "22C10/FUTSCH",
                    "type": "synonym"
                },
                {
                    "name": "22C10",
                    "type": "synonym"
                },
                {
                    "name": "22C20",
                    "type": "synonym"
                },
                {
                    "name": "22c10",
                    "type": "synonym"
                },
                {
                    "name": "CG14772",
                    "type": "synonym"
                },
                {
                    "name": "CG3064",
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                },
                {
                    "name": "CG34387",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34387",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34387",
                    "type": "synonym"
                },
                {
                    "name": "EG:49E4.1",
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                },
                {
                    "name": "FUTSCH",
                    "type": "synonym"
                },
                {
                    "name": "Futch",
                    "type": "synonym"
                },
                {
                    "name": "Futsch",
                    "type": "synonym"
                },
                {
                    "name": "MAP-1b",
                    "type": "synonym"
                },
                {
                    "name": "MAP-IB",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B",
                    "type": "synonym"
                },
                {
                    "name": "MAb22C10",
                    "type": "synonym"
                },
                {
                    "name": "Mab 22C10",
                    "type": "synonym"
                },
                {
                    "name": "Mab22C10",
                    "type": "synonym"
                },
                {
                    "name": "Mab22c10",
                    "type": "synonym"
                },
                {
                    "name": "Map-1B",
                    "type": "synonym"
                },
                {
                    "name": "Map1B",
                    "type": "synonym"
                },
                {
                    "name": "Olk",
                    "type": "synonym"
                },
                {
                    "name": "futsch",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.936",
                    "type": "synonym"
                },
                {
                    "name": "mAb 22C10",
                    "type": "synonym"
                },
                {
                    "name": "mAb-22C10",
                    "type": "synonym"
                },
                {
                    "name": "mAb22C10",
                    "type": "synonym"
                },
                {
                    "name": "mAb22c10",
                    "type": "synonym"
                },
                {
                    "name": "map1b",
                    "type": "synonym"
                },
                {
                    "name": "olk",
                    "type": "synonym"
                },
                {
                    "name": "ssC10",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050454"
                }
            ]
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                }
            ],
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                    "name": "Filamin-A",
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                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "CG3937-PK",
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                {
                    "name": "FLN-A",
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                {
                    "name": "Filamin-1",
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                {
                    "name": "Filamin-A",
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                },
                {
                    "name": "Filamin-B",
                    "type": "synonym"
                },
                {
                    "name": "Filamin1",
                    "type": "synonym"
                },
                {
                    "name": "cheerio, isoform K",
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                },
                {
                    "name": "cheerio",
                    "type": "synonym"
                },
                {
                    "name": "cher-PK",
                    "type": "synonym"
                },
                {
                    "name": "cherrio",
                    "type": "synonym"
                },
                {
                    "name": "filamin B",
                    "type": "synonym"
                },
                {
                    "name": "filamin isoform B",
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                },
                {
                    "name": "filamin-240",
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                },
                {
                    "name": "shi kong",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "cher",
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                {
                    "name": "CG3937",
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                },
                {
                    "name": "Cheerio",
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                },
                {
                    "name": "Cher",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3937",
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                },
                {
                    "name": "Dmel_CG3937",
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                },
                {
                    "name": "FLN90",
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                {
                    "name": "FLN",
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                },
                {
                    "name": "Fil",
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                {
                    "name": "cheerio",
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                {
                    "name": "cher",
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                {
                    "name": "dFil",
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                {
                    "name": "filamin",
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                {
                    "name": "joy",
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                {
                    "name": "sko",
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            ],
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                    "id": "0050454",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050454"
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            ]
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                }
            ],
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                {
                    "name": "CG42279-PJ",
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                {
                    "name": "DNedd4",
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                {
                    "name": "HECT-type E3 ubiquitin transferase NEDD4",
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                },
                {
                    "name": "Nedd4, isoform J",
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                {
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            ],
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                {
                    "name": "ACN62428.1",
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                {
                    "name": "CG32184",
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                {
                    "name": "CG42279",
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                {
                    "name": "CG7555",
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                    "name": "DNedd4",
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                {
                    "name": "Dmel\\CG42279",
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                {
                    "name": "Dmel_CG42279",
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                {
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                {
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                {
                    "name": "dNedd4-1",
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                {
                    "name": "dNedd4",
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                    "id": "0050454",
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            ]
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            ],
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                    "name": "Proteasome assembly chaperone 1",
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                {
                    "name": "Chromosome 21 leucine-rich protein",
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                {
                    "name": "Down syndrome critical region gene 2",
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                {
                    "name": "Down syndrome critical region protein 2",
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                {
                    "name": "PAC-1",
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                {
                    "name": "Pba1",
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                {
                    "name": "Proteasome chaperone homolog 1",
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                {
                    "name": "chromosome 21 leucine-rich protein",
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                {
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                {
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                {
                    "name": "proteasome assembly chaperone 1 isoform a",
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                {
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            ],
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                {
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                {
                    "name": "DSCR2",
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                {
                    "name": "LRPC21",
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                {
                    "name": "PAC-1",
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                {
                    "name": "PAC1",
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                {
                    "name": "PSMG1",
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                {
                    "name": "Pba1",
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            ],
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                    "id": "0050454",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050454"
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            ]
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            "uniprot_canonical_ac": "Q96PU5-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                }
            ],
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                {
                    "name": "E3 ubiquitin-protein ligase NEDD4-like",
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                {
                    "name": "2.3.2.26",
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                {
                    "name": "2.3.2.36",
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                {
                    "name": "E3 ubiquitin-protein ligase NEDD4-like isoform 2",
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                {
                    "name": "HECT-type E3 ubiquitin transferase NED4L",
                    "type": "synonym"
                },
                {
                    "name": "NEDD4.2",
                    "type": "synonym"
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                {
                    "name": "Nedd4-2",
                    "type": "synonym"
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                {
                    "name": "neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase",
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                {
                    "name": "ubiquitin-protein ligase Rsp5",
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                }
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                    "name": "NEDD4L",
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                {
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                },
                {
                    "name": "NEDD4-2",
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                {
                    "name": "NEDD4.2",
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                {
                    "name": "NEDD4L",
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                {
                    "name": "NEDL3",
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                {
                    "name": "PVNH7",
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                },
                {
                    "name": "RSP5",
                    "type": "synonym"
                },
                {
                    "name": "hNEDD4-2",
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            ],
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                    "id": "0050454",
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            "uniprot_canonical_ac": "P46821-1",
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                }
            ],
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                    "name": "Microtubule-associated protein 1B",
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                },
                {
                    "name": "microtubule-associated protein 1B isoform 1",
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                {
                    "name": "protein phosphatase 1, regulatory subunit 102",
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                }
            ],
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                    "name": "MAP1B",
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                {
                    "name": "DFNA83",
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                {
                    "name": "FUTSCH",
                    "type": "synonym"
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                {
                    "name": "MAP1B",
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                },
                {
                    "name": "MAP5",
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                },
                {
                    "name": "PPP1R102",
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                },
                {
                    "name": "PVNH9",
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            ],
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                    "id": "0050454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050454"
                }
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        {
            "uniprot_canonical_ac": "Q9Y6D5-1",
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                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                }
            ],
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                {
                    "name": "Brefeldin A-inhibited guanine nucleotide-exchange protein 2",
                    "type": "recommended"
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                {
                    "name": "ADP ribosylation factor guanine nucleotide exchange factor 2",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor guanine nucleotide-exchange factor 2",
                    "type": "synonym"
                },
                {
                    "name": "Brefeldin A-inhibited GEP 2",
                    "type": "synonym"
                },
                {
                    "name": "brefeldin A-inhibited GEP 2",
                    "type": "synonym"
                },
                {
                    "name": "brefeldin A-inhibited guanine nucleotide-exchange protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "brefeldin A-inhibited guanine nucleotide-exchange protein 2",
                    "type": "synonym"
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            ],
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                {
                    "name": "ARFGEF2",
                    "type": "recommended"
                },
                {
                    "name": "ARFGEF2",
                    "type": "synonym"
                },
                {
                    "name": "ARFGEP2",
                    "type": "synonym"
                },
                {
                    "name": "BIG2",
                    "type": "synonym"
                },
                {
                    "name": "PVNH2",
                    "type": "synonym"
                },
                {
                    "name": "dJ1164I10.1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050454"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q5T6L9-1",
            "uniprot_ac": "Q5T6L9",
            "uniprot_id": "EMARD_HUMAN",
            "refseq_ac": "NP_001265460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum membrane-associated RNA degradation protein",
                    "type": "recommended"
                },
                {
                    "name": "ER membrane-associated RNA degradation protein",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum membrane-associated RNA degradation protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum membrane-associated RNA degradation protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein C6orf70",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERMARD",
                    "type": "recommended"
                },
                {
                    "name": "C6orf70",
                    "type": "synonym"
                },
                {
                    "name": "ERMARD",
                    "type": "synonym"
                },
                {
                    "name": "PVNH6",
                    "type": "synonym"
                },
                {
                    "name": "dJ266L20.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T6L9-1",
            "evidence": [
                {
                    "id": "0050454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050454"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84077-1",
            "uniprot_ac": "P84077",
            "uniprot_id": "ARF1_HUMAN",
            "refseq_ac": "NP_001019397",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "ADP ribosylation factor 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARF1",
                    "type": "recommended"
                },
                {
                    "name": "ARF1",
                    "type": "synonym"
                },
                {
                    "name": "PVNH8",
                    "type": "synonym"
                }
            ],
            "record_id": "P84077-1",
            "evidence": [
                {
                    "id": "0050454",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050454"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050454"
}
