{
    "disease_id": "DOID:0110306",
    "recommended_name": {
        "id": "DOID:0110306",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110306",
        "name": "autosomal dominant limb-girdle muscular dystrophy type 3",
        "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110306",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110306",
            "name": "LGMD1G",
            "description": ""
        },
        {
            "id": "DOID:0110306",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110306",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1G",
            "description": ""
        },
        {
            "id": "DOID:0110306",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110306",
            "name": "muscular dystrophy limb-girdle type 1G",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1G",
            "description": "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed."
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "HNRNPDL autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "LGMD1G",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "muscular dystrophy, limb-girdle, autosomal dominant 3",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "limb-girdle muscular dystrophy type 1G",
            "description": ""
        },
        {
            "id": "MONDO:0012193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "name": "limb-girdle muscular dystrophy, type 1G",
            "description": ""
        },
        {
            "id": "MIM:609115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609115",
            "name": "Muscular dystrophy, limb-girdle, autosomal dominant 3",
            "description": "Muscular dystrophy, limb-girdle, autosomal dominant 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110306"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110306",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110306",
            "categories": []
        },
        {
            "id": "MONDO:0012193",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012193",
            "categories": []
        },
        {
            "id": "MIM:609115",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609115",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0AC58GII9",
            "uniprot_id": "A0AC58GII9_DANRE",
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            "glycoprotein": "no",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "RNA-binding protein Musashi homolog 2a isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "msi2a",
                    "type": "recommended"
                },
                {
                    "name": "cb746",
                    "type": "synonym"
                },
                {
                    "name": "fi47b09",
                    "type": "synonym"
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                    "name": "msi2a",
                    "type": "synonym"
                },
                {
                    "name": "msi2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb02d08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi32d12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi47b09",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110306"
                }
            ]
        },
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                    "taxid": 7955,
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                }
            ],
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                }
            ],
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                {
                    "name": "msi2b",
                    "type": "recommended"
                },
                {
                    "name": "msi2b",
                    "type": "synonym"
                },
                {
                    "name": "msi2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:174035",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63812",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110306",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z130-1",
            "uniprot_ac": "Q9Z130",
            "uniprot_id": "HNRDL_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
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                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein D-like",
                    "type": "recommended"
                },
                {
                    "name": "JKT41-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP D-like",
                    "type": "synonym"
                },
                {
                    "name": "hnRNP DL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnrnpdl",
                    "type": "recommended"
                },
                {
                    "name": "Hnrnpdl1",
                    "type": "synonym"
                },
                {
                    "name": "Hnrpdl",
                    "type": "synonym"
                },
                {
                    "name": "Jktbp",
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            ],
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                {
                    "id": "0110306",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110306"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q920Q6-1",
            "uniprot_ac": "Q920Q6",
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            "refseq_ac": "NP_473384",
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            "species": [
                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "RNA-binding protein Musashi homolog 2",
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                    "name": "Musashi-2",
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                {
                    "name": "Musashi2",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein Musashi homolog 2 isoform 1",
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                },
                {
                    "name": "RNA-binding protein Musashi homolog 2",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msi2",
                    "type": "recommended"
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                {
                    "name": "1700105C15Rik",
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                },
                {
                    "name": "Msi2h",
                    "type": "synonym"
                },
                {
                    "name": "Msi2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q920Q6-1",
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                {
                    "id": "0110306",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110306"
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            ]
        },
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            "uniprot_canonical_ac": "Q61474-1",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "RNA-binding protein Musashi homolog 1",
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                    "name": "Musashi homolog 1(Drosophila)",
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                    "name": "Musashi-1",
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                {
                    "name": "RNA-binding protein Musashi homolog 1 isoform 1",
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                {
                    "name": "RNA-binding protein Musashi homolog 1",
                    "type": "synonym"
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                    "name": "musashi-1",
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                }
            ],
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                    "name": "Msi1",
                    "type": "recommended"
                },
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                {
                    "name": "Msi1",
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                {
                    "name": "Musahi1",
                    "type": "synonym"
                },
                {
                    "name": "m-Msi-1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110306",
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            "uniprot_canonical_ac": "Q99020-1",
            "uniprot_ac": "Q99020",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
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            ],
            "protein_names": [
                {
                    "name": "Heterogeneous nuclear ribonucleoprotein A/B",
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                    "name": "CArG-binding factor-A",
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                    "name": "CBF-A",
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                    "type": "synonym"
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                    "name": "heterogeneous nuclear ribonucleoprotein A/B isoform 2",
                    "type": "synonym"
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                    "name": "hnRNP A/B",
                    "type": "synonym"
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            ],
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                {
                    "name": "Hnrnpab",
                    "type": "recommended"
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                {
                    "name": "3010025C11Rik",
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                },
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                    "name": "CBF-A",
                    "type": "synonym"
                },
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                    "name": "Cbf-a",
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                    "name": "Cgbfa",
                    "type": "synonym"
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                    "name": "Hnrpab",
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                    "name": "Homo sapiens",
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                {
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                    "type": "synonym"
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                    "type": "synonym"
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                {
                    "name": "Protein laAUF1",
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                {
                    "name": "hnRNP DL",
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                    "name": "limb girdle muscular dystrophy 1G (autosomal dominant)",
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                    "name": "protein laAUF1",
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                    "id": "609115",
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                    "id": "0110306",
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                {
                    "name": "Cleavage factor IB",
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                {
                    "name": "Heterogeneous nuclear ribonucleoprotein 1",
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                    "name": "HRP1",
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                    "name": "NAB4",
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                    "name": "NAB5",
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                    "id": "0110306",
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                    "name": "NOP13",
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                    "id": "0110306",
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                {
                    "name": "hnRNP DL",
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                    "name": "hnRNP-DL",
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                    "name": "Hnrnpdl",
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                    "name": "Hnrpdl",
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                    "name": "hnRNP DL",
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                    "id": "0110306",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
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                    "name": "RNA-binding protein Musashi homolog 1",
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                    "name": "Musashi homolog 1(Drosophila)",
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                {
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                {
                    "name": "RNA-binding protein Musashi homolog 1",
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                    "name": "musashi-1",
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                {
                    "name": "Msi1",
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                    "id": "0110306",
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            "uniprot_ac": "A0A8I6GG20",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "RNA-binding protein Musashi homolog 2",
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                {
                    "name": "Musashi homolog 2",
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                    "name": "RNA-binding protein Musashi homolog 2",
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                    "name": "musashi RNA-binding protein 2 isoform a",
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                {
                    "name": "RGD1560397",
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                {
                    "name": "HNRNP 40",
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                {
                    "name": "Heterogeneous nuclear ribonucleoprotein 40",
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                {
                    "name": "RNA-binding protein 3",
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                {
                    "name": "heterogeneous-nuclear-ribonucleoprotein-87Fb",
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                    "name": "lethal (3) j4B4",
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                    "name": "sqd-PE",
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                {
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            ],
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                    "name": "CR33328",
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                    "name": "Hrb87Fb",
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                    "name": "Hrp40",
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                    "name": "RRM3",
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                    "name": "SQD",
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                    "name": "Sqd",
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                {
                    "name": "Squid",
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                {
                    "name": "fs(3)00048",
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                {
                    "name": "hnRNP 1",
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                    "name": "hnRNP A",
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                {
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                    "name": "l(3)j6E3",
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                }
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                    "name": "CG32169-PB",
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                    "name": "RNA-binding protein 6, isoform B",
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                {
                    "name": "Rbp6-PB",
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            ],
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                {
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                    "name": "BcDNA:RE25373",
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                    "name": "CG14055",
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                {
                    "name": "CG14056",
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                    "name": "CG32169",
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                    "name": "CG6573",
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                {
                    "name": "Dmel\\CG32169",
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                {
                    "name": "Dmel_CG32169",
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                    "name": "RRM6",
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                {
                    "name": "Rbp6",
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                {
                    "name": "rbp6",
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                {
                    "name": "rrm6",
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            ],
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                    "id": "0110306",
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                }
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                }
            ],
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                    "name": "CG5099-PC",
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                    "name": "Musashi, isoform B",
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                },
                {
                    "name": "Musashi, isoform C",
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                },
                {
                    "name": "Musashi, isoform F",
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                {
                    "name": "msi-PC",
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                {
                    "name": "musashi, isoform C",
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                    "name": "musashi",
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                    "name": "mushashi",
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                    "name": "3R11",
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                    "name": "CG5099",
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                {
                    "name": "DMSIDNA",
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                    "name": "Dmel\\CG5099",
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                {
                    "name": "Dmel_CG5099",
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                    "name": "MSI",
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                    "name": "Msi",
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                {
                    "name": "SIDNA",
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                {
                    "name": "anon-EST:Liang-2.35",
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                {
                    "name": "clone 2.35",
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                    "name": "dMSI",
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                {
                    "name": "dMsi",
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                    "name": "msi",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "RNA-binding protein Musashi homolog 2",
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                {
                    "name": "RNA-binding protein Musashi homolog 2 isoform a",
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                {
                    "name": "RNA-binding protein Musashi homolog 2",
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                    "name": "musashi homolog 2",
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                    "name": "musashi-2",
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                    "name": "MSI2H",
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                {
                    "name": "MSI2",
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            ],
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                    "id": "0110306",
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                }
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            "uniprot_canonical_ac": "O43347-1",
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            ],
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                {
                    "name": "RNA-binding protein Musashi homolog 1",
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                {
                    "name": "RNA-binding protein Musashi homolog 1 isoform a",
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                {
                    "name": "RNA-binding protein Musashi homolog 1",
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                },
                {
                    "name": "musashi-1",
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                {
                    "name": "musashi1",
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                    "name": "MSI1",
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                    "id": "0110306",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110306"
}