{
    "disease_id": "DOID:0060419",
    "recommended_name": {
        "id": "DOID:0060419",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060419",
        "name": "chromosome 3q29 microdeletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region."
    },
    "synonyms": [
        {
            "id": "DOID:0060419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060419",
            "name": "3q subtelomere deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060419",
            "name": "3q29 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060419",
            "name": "3qter deletion",
            "description": ""
        },
        {
            "id": "DOID:0060419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060419",
            "name": "3q29 recurrent deletion",
            "description": ""
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "chromosome 3q29 microdeletion syndrome",
            "description": "3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features."
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "3q subtelomere deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "3q29 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "3qter deletion",
            "description": ""
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "Del(3)(q29)",
            "description": ""
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "chromosome 3q29 microdeletion syndrome, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "monosomy 3q29",
            "description": ""
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "monosomy 3qter",
            "description": ""
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "3q29 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0012269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "name": "3q29 deletion syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060419"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060419",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060419",
            "categories": []
        },
        {
            "id": "MONDO:0012269",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012269",
            "categories": []
        }
    ],
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                }
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                    "name": "dlg4",
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                    "id": "0060419",
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                }
            ],
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                {
                    "name": "Nuclear cap-binding protein subunit 2",
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                    "name": "20 kDa nuclear cap-binding protein",
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                    "type": "synonym"
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                    "name": "nuclear cap binding protein subunit 2, 20kD",
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                },
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                    "name": "ch211-258l4.5",
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                    "name": "zgc:92592",
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                }
            ],
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                },
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                }
            ],
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                    "name": "OSTalpha",
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                    "name": "Osta",
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                    "id": "0060419",
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                }
            ]
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                    "name": "Mus musculus",
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                }
            ],
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                    "name": "Lactotransferrin",
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                    "name": "3.4.21.-",
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                {
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                {
                    "name": "retinol dehydrogenase 2-like",
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                {
                    "name": "retinol dehydrogenase type 1",
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                {
                    "name": "IL-6RB",
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                },
                {
                    "name": "Interleukin-6 signal transducer",
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                },
                {
                    "name": "Membrane glycoprotein 130",
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                },
                {
                    "name": "Oncostatin-M receptor subunit alpha",
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                },
                {
                    "name": "gp130",
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                }
            ],
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                {
                    "name": "Il6st",
                    "type": "recommended"
                }
            ],
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            ]
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            ],
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                {
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                {
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                {
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                {
                    "name": "tsf2",
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            ],
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            ],
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                {
                    "name": "Disc-Large",
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                {
                    "name": "Discs-large 1",
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                {
                    "name": "Discs-large",
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                {
                    "name": "Dlg",
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                {
                    "name": "disc large",
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                {
                    "name": "disclarge",
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                {
                    "name": "discs large 1, isoform K",
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                {
                    "name": "discs large 1",
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                {
                    "name": "discslarge",
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                {
                    "name": "disk large",
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                {
                    "name": "dlg1-PK",
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                {
                    "name": "lethal(1)benign wing imaginal disc neoplasm",
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                {
                    "name": "lethal(1)discs large",
                    "type": "synonym"
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                {
                    "name": "lethal(1)discs-large",
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                {
                    "name": "lethal(2)discs large",
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            ],
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                    "name": "11",
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                    "name": "CG1725",
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                {
                    "name": "CG1730",
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                {
                    "name": "CPD",
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                {
                    "name": "DLG-A",
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                {
                    "name": "DLG1",
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                {
                    "name": "DLG",
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                {
                    "name": "Discs Large",
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                {
                    "name": "Discs-large",
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                {
                    "name": "Dlg-A",
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                {
                    "name": "Dlg1",
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                {
                    "name": "DlgA",
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                {
                    "name": "DlgS97",
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                {
                    "name": "Dlg",
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                {
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                {
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                {
                    "name": "PSD-95",
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                {
                    "name": "PSD95",
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                {
                    "name": "anon-EST:Posey93",
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                {
                    "name": "anon-WO03040301.258",
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                {
                    "name": "anon-WO03040301.260",
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                {
                    "name": "anon-WO03040301.268",
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                {
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                {
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                {
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                {
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                {
                    "name": "cytotoxic T-lymphocyte-associated serine esterase-4",
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                {
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                {
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                {
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                {
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                {
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                {
                    "name": "serotransferrin isoform 1 precursor",
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                },
                {
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                    "name": "siderophilin",
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                {
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                    "id": "0060419",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060419"
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                    "name": "Synapse-associated protein 97",
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                {
                    "name": "dJ1061C18.1.1",
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                {
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                    "type": "synonym"
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                {
                    "name": "disks large homolog 1 isoform 1",
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                {
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                {
                    "name": "presynaptic protein SAP97",
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                {
                    "name": "synapse-associated protein 97",
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                    "name": "DLGH1",
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                {
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                {
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                    "id": "0060419",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060419"
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            ]
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            "uniprot_canonical_ac": "Q15700-1",
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            "glycoprotein": "yes",
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                    "name": "Disks large homolog 2",
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                {
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                {
                    "name": "Chapsyn-110",
                    "type": "synonym"
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                {
                    "name": "Postsynaptic density protein PSD-93",
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                },
                {
                    "name": "channel-associated protein of synapse-110",
                    "type": "synonym"
                },
                {
                    "name": "channel-associated protein of synapses, 110kDa",
                    "type": "synonym"
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                {
                    "name": "discs, large homolog 2, chapsyn-110",
                    "type": "synonym"
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                {
                    "name": "disks large homolog 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 2",
                    "type": "synonym"
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                {
                    "name": "postsynaptic density protein PSD-93",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 58",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "DLG2",
                    "type": "recommended"
                },
                {
                    "name": "DLG2",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R58",
                    "type": "synonym"
                },
                {
                    "name": "PSD-93",
                    "type": "synonym"
                },
                {
                    "name": "PSD93",
                    "type": "synonym"
                },
                {
                    "name": "chapsyn-110",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02788-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lactotransferrin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Growth-inhibiting protein 12",
                    "type": "synonym"
                },
                {
                    "name": "Lactoferrin",
                    "type": "synonym"
                },
                {
                    "name": "Talalactoferrin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 110",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting protein 12",
                    "type": "synonym"
                },
                {
                    "name": "kaliocin-1",
                    "type": "synonym"
                },
                {
                    "name": "lactoferricin",
                    "type": "synonym"
                },
                {
                    "name": "lactoferroxin",
                    "type": "synonym"
                },
                {
                    "name": "lactotransferrin isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "neutrophil lactoferrin",
                    "type": "synonym"
                },
                {
                    "name": "talalactoferrin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "LTF",
                    "type": "recommended"
                },
                {
                    "name": "GIG12",
                    "type": "synonym"
                },
                {
                    "name": "HEL110",
                    "type": "synonym"
                },
                {
                    "name": "HLF2",
                    "type": "synonym"
                },
                {
                    "name": "LF",
                    "type": "synonym"
                },
                {
                    "name": "LTF",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060419",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52298-1",
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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": "Nuclear cap-binding protein subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "20 kDa nuclear cap-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CBP20",
                    "type": "synonym"
                },
                {
                    "name": "Cell proliferation-inducing gene 55 protein",
                    "type": "synonym"
                },
                {
                    "name": "NCBP 20 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "NCBP interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NCBP-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NIP1",
                    "type": "synonym"
                },
                {
                    "name": "cell proliferation-inducing gene 55 protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear cap binding protein subunit 2, 20kDa",
                    "type": "synonym"
                },
                {
                    "name": "nuclear cap binding protein subunit 2, 20kD",
                    "type": "synonym"
                },
                {
                    "name": "nuclear cap-binding protein subunit 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCBP2",
                    "type": "recommended"
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                {
                    "name": "CBC2",
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                },
                {
                    "name": "CBP20",
                    "type": "synonym"
                },
                {
                    "name": "NCBP2",
                    "type": "synonym"
                },
                {
                    "name": "NIP1",
                    "type": "synonym"
                },
                {
                    "name": "PIG55",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060419",
                    "database": "AGR",
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                }
            ]
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        {
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                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                }
            ],
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                {
                    "name": "Nuclear cap-binding protein subunit 2-like",
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                },
                {
                    "name": "nuclear cap-binding protein subunit 2-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCBP2L",
                    "type": "recommended"
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                {
                    "name": "NCBP2L",
                    "type": "synonym"
                },
                {
                    "name": "dJ820B18.1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060419",
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                }
            ]
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
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            ],
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                {
                    "name": "Short-chain dehydrogenase/reductase family 9C member 7",
                    "type": "recommended"
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                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "O-acylceramide dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Orphan short-chain dehydrogenase/reductase",
                    "type": "synonym"
                },
                {
                    "name": "RDH-S",
                    "type": "synonym"
                },
                {
                    "name": "SDR-O",
                    "type": "synonym"
                },
                {
                    "name": "SDR9C7",
                    "type": "synonym"
                },
                {
                    "name": "orphan short-chain dehydrogenase / reductase",
                    "type": "synonym"
                },
                {
                    "name": "orphan short-chain dehydrogenase/reductase",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase similar protein",
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                },
                {
                    "name": "short-chain dehydrogenase/reductase family 9C member 7",
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                }
            ],
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                {
                    "name": "SDR9C7",
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                {
                    "name": "ARCI13",
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                {
                    "name": "RDHS",
                    "type": "synonym"
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                {
                    "name": "SDR-O",
                    "type": "synonym"
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                {
                    "name": "SDR9C7",
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                },
                {
                    "name": "SDRO",
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                }
            ],
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                {
                    "id": "0060419",
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                    "name": "Melanotransferrin",
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                    "name": "Melanoma-associated antigen p97",
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                {
                    "name": "antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5",
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                },
                {
                    "name": "melanotransferrin isoform 1 preproprotein",
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                {
                    "name": "membrane-bound transferrin-like protein",
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            ],
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                    "name": "CD228",
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                {
                    "name": "MAP97",
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                {
                    "name": "MELTF",
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                {
                    "name": "MFI2",
                    "type": "synonym"
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                {
                    "name": "MTF1",
                    "type": "synonym"
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                {
                    "name": "MTf",
                    "type": "synonym"
                }
            ],
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                    "id": "0060419",
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            ],
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                    "name": "Disks large homolog 3",
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                    "name": "Neuroendocrine-DLG",
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                    "name": "Synapse-associated protein 102",
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                    "name": "disks large homolog 3 isoform c",
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                    "name": "neuroendocrine-DLG",
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                    "name": "protein phosphatase 1, regulatory subunit 82",
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                {
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                    "name": "KIAA1232",
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                    "name": "MRX90",
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                    "name": "MRX",
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                    "name": "NEDLG",
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                    "name": "PPP1R82",
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                    "id": "0060419",
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                    "name": "3-hydroxybutyrate dehydrogenase",
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                {
                    "name": "D-beta-hydroxybutyrate dehydrogenase, mitochondrial",
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                {
                    "name": "epididymis secretory sperm binding protein",
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                    "id": "0060419",
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                    "name": "post-synaptic density protein 95",
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                {
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                    "name": "SAP90",
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                    "id": "0060419",
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                    "name": "17-beta-hydroxysteroid dehydrogenase type 6",
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                    "name": "3(alpha->beta)-hydroxysteroid epimerasel",
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                    "name": "3(alpha->beta)-hydroxysteroid epimerase",
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                {
                    "name": "3-alpha->beta-HSE",
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                {
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                {
                    "name": "NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase",
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                {
                    "name": "Oxidative 3-alpha hydroxysteroid dehydrogenase",
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                    "name": "Short chain dehydrogenase/reductase family 9C member 6",
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                    "name": "hydroxysteroid (17-beta) dehydrogenase 6 homolog",
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                    "name": "oxidative 3-alpha-hydroxysteroid-dehydrogenase",
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                {
                    "name": "oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "retinol dehydrogenase",
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                    "name": "short chain dehydrogenase/reductase family 9C member 6",
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                    "name": "HSD17B6",
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                    "name": "HSE",
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                    "name": "RODH",
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                {
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                    "id": "0060419",
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                }
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        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060419"
}