{
    "disease_id": "DOID:0080634",
    "recommended_name": {
        "id": "DOID:0080634",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080634",
        "name": "nanophthalmos",
        "description": "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma."
    },
    "synonyms": [
        {
            "id": "MONDO:0010836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010836",
            "name": "nanophthalmos 1",
            "description": ""
        },
        {
            "id": "MONDO:0010836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010836",
            "name": "NNO1",
            "description": ""
        },
        {
            "id": "MONDO:0010836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010836",
            "name": "nanophthalmos 1",
            "description": ""
        },
        {
            "id": "MONDO:0010836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010836",
            "name": "nanophthalmos-1",
            "description": ""
        },
        {
            "id": "MONDO:0012299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012299",
            "name": "nanophthalmos 2",
            "description": "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene."
        },
        {
            "id": "MONDO:0012299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012299",
            "name": "MFRP nanophthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0012299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012299",
            "name": "nanophthalmia caused by mutation in MFRP",
            "description": ""
        },
        {
            "id": "MONDO:0012299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012299",
            "name": "nanophthalmos 2",
            "description": ""
        },
        {
            "id": "MONDO:0012299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012299",
            "name": "nanophthalmos type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012299",
            "name": "NNO2",
            "description": ""
        },
        {
            "id": "MONDO:0012754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012754",
            "name": "nanophthalmos 3",
            "description": ""
        },
        {
            "id": "MONDO:0012754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012754",
            "name": "NNO3",
            "description": ""
        },
        {
            "id": "MONDO:0012754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012754",
            "name": "nanophthalmos 3",
            "description": ""
        },
        {
            "id": "MONDO:0014426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014426",
            "name": "nanophthalmos 4",
            "description": "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene."
        },
        {
            "id": "MONDO:0014426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014426",
            "name": "TMEM98 nanophthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0014426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014426",
            "name": "nanophthalmia caused by mutation in TMEM98",
            "description": ""
        },
        {
            "id": "MONDO:0014426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014426",
            "name": "nanophthalmos 4",
            "description": ""
        },
        {
            "id": "MONDO:0014426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014426",
            "name": "nanophthalmos type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014426",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014426",
            "name": "NNO4",
            "description": ""
        },
        {
            "id": "MIM:600165",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600165",
            "name": "Nanophthalmos 1",
            "description": "Nanophthalmos 1"
        },
        {
            "id": "MIM:609549",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609549",
            "name": "Nanophthalmos 2",
            "description": "Nanophthalmos 2"
        },
        {
            "id": "MIM:615972",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615972",
            "name": "Nanophthalmos 4",
            "description": "Nanophthalmos 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080634"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080634",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080634",
            "categories": []
        },
        {
            "id": "MONDO:0010836",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010836",
            "categories": []
        },
        {
            "id": "MONDO:0012299",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012299",
            "categories": []
        },
        {
            "id": "MONDO:0012754",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012754",
            "categories": []
        },
        {
            "id": "MONDO:0014426",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014426",
            "categories": []
        },
        {
            "id": "MIM:600165",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600165",
            "categories": []
        },
        {
            "id": "MIM:609549",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609549",
            "categories": []
        },
        {
            "id": "MIM:615972",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615972",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "A0A8M3AWA7-1",
            "uniprot_ac": "A0A8M3AWA7",
            "uniprot_id": "A0A8M3AWA7_DANRE",
            "refseq_ac": "XP_009295998",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin regulatory factor",
                    "type": "recommended"
                },
                {
                    "name": "Myelin gene regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "myelin regulatory factor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myrf",
                    "type": "recommended"
                },
                {
                    "name": "myrf",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AWA7-1",
            "evidence": [
                {
                    "id": "0080634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91X86-1",
            "uniprot_ac": "Q91X86",
            "uniprot_id": "TMM98_MOUSE",
            "refseq_ac": "NP_083813",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 98",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 98",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem98",
                    "type": "recommended"
                },
                {
                    "name": "6530411B15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rwhs",
                    "type": "synonym"
                },
                {
                    "name": "Tmem98",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91X86-1",
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                    "id": "0080634",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F2YMG0-1",
            "uniprot_ac": "F2YMG0",
            "uniprot_id": "PRS56_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine protease 56",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "protease, serine 56",
                    "type": "synonym"
                },
                {
                    "name": "serine protease 56 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prss56",
                    "type": "recommended"
                },
                {
                    "name": "1700027L20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Prss56",
                    "type": "synonym"
                }
            ],
            "record_id": "F2YMG0-1",
            "evidence": [
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                    "id": "0080634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K480-1",
            "uniprot_ac": "Q8K480",
            "uniprot_id": "MFRP_MOUSE",
            "refseq_ac": "NP_001177242",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "recommended"
                },
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "adiponectin e",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfrp",
                    "type": "recommended"
                },
                {
                    "name": "Adie",
                    "type": "synonym"
                },
                {
                    "name": "C1qtnf5",
                    "type": "synonym"
                },
                {
                    "name": "Ctrp5",
                    "type": "synonym"
                },
                {
                    "name": "Mfrp",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080634"
                }
            ]
        },
        {
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            "uniprot_ac": "Q8K479",
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            "refseq_ac": "NP_001035721",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement C1q tumor necrosis factor-related protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Membrane frizzled-related protein",
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                },
                {
                    "name": "adiponectin e",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement C1q tumor necrosis factor-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1qtnf5",
                    "type": "recommended"
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                {
                    "name": "Adie",
                    "type": "synonym"
                },
                {
                    "name": "C1qtnf5",
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                {
                    "name": "Ctrp5",
                    "type": "synonym"
                },
                {
                    "name": "Mfrp",
                    "type": "synonym"
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            ],
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                    "id": "0080634",
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        },
        {
            "uniprot_canonical_ac": "Q3UR85-1",
            "uniprot_ac": "Q3UR85",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myelin regulatory factor",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Myelin gene regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "myelin gene regulatory factor",
                    "type": "synonym"
                },
                {
                    "name": "myelin regulatory factor isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myrf",
                    "type": "recommended"
                },
                {
                    "name": "6030439E18",
                    "type": "synonym"
                },
                {
                    "name": "Gm1804",
                    "type": "synonym"
                },
                {
                    "name": "Gm98",
                    "type": "synonym"
                },
                {
                    "name": "Mrf",
                    "type": "synonym"
                },
                {
                    "name": "Myrf",
                    "type": "synonym"
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            ],
            "record_id": "Q3UR85-1",
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                    "id": "0080634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080634"
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            ]
        },
        {
            "uniprot_canonical_ac": "Q9BY79-1",
            "uniprot_ac": "Q9BY79",
            "uniprot_id": "MFRP_HUMAN",
            "refseq_ac": "NP_113621",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "recommended"
                },
                {
                    "name": "C1q and TNF related 5",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-type frizzled-related protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane frizzled-related protein",
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                {
                    "name": "membrane-type frizzled-related protein",
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            ],
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                    "name": "MFRP",
                    "type": "recommended"
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                {
                    "name": "CTRP5",
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                },
                {
                    "name": "MCOP5",
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                {
                    "name": "MFRP",
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                },
                {
                    "name": "NNO2",
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                {
                    "name": "RD6",
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                }
            ],
            "record_id": "Q9BY79-1",
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                    "id": "609549",
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                {
                    "id": "0080634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080634"
                }
            ]
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            "species": [
                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 98",
                    "type": "recommended"
                },
                {
                    "name": "Protein TADA1",
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                },
                {
                    "name": "transmembrane protein 98",
                    "type": "synonym"
                }
            ],
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                    "name": "TMEM98",
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                },
                {
                    "name": "TADA1",
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                {
                    "name": "TMEM98",
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                    "id": "615972",
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                {
                    "id": "0080634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080634"
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            ]
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            "uniprot_canonical_ac": "Q9Y2G1-1",
            "uniprot_ac": "Q9Y2G1",
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                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Myelin regulatory factor",
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                {
                    "name": "3.4.-.-",
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                {
                    "name": "Myelin gene regulatory factor",
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                {
                    "name": "myelin gene regulatory factor",
                    "type": "synonym"
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                {
                    "name": "myelin regulatory factor isoform 2 precursor",
                    "type": "synonym"
                }
            ],
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                    "name": "MYRF",
                    "type": "recommended"
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                {
                    "name": "11orf9",
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                },
                {
                    "name": "C11orf9",
                    "type": "synonym"
                },
                {
                    "name": "CUGS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0954",
                    "type": "synonym"
                },
                {
                    "name": "MMERV",
                    "type": "synonym"
                },
                {
                    "name": "MRF",
                    "type": "synonym"
                },
                {
                    "name": "MYRF",
                    "type": "synonym"
                },
                {
                    "name": "NNO1",
                    "type": "synonym"
                },
                {
                    "name": "Ndt80",
                    "type": "synonym"
                },
                {
                    "name": "pqn-47",
                    "type": "synonym"
                }
            ],
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                    "id": "600165",
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                    "url": "https://www.omim.org/entry/600165"
                },
                {
                    "id": "0080634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZU82-1",
            "uniprot_ac": "D3ZU82",
            "uniprot_id": "D3ZU82_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane frizzled-related protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Mfrp",
                    "type": "recommended"
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            ],
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                {
                    "id": "0080634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080634"
                }
            ]
        },
        {
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                    "name": "Transmembrane protein 98",
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                    "name": "transmembrane protein 98",
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                {
                    "name": "Myelin regulatory factor",
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                {
                    "name": "Myelin gene regulatory factor",
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                },
                {
                    "name": "myelin regulatory factor isoform X1",
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                }
            ],
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                {
                    "name": "Myrf",
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                },
                {
                    "name": "Mrf",
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                },
                {
                    "name": "Myrf",
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                {
                    "name": "RGD1306622",
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            ],
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            "uniprot_ac": "A0A8I6G9L9",
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                {
                    "name": "Serine protease 56",
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                {
                    "name": "Prss56",
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                    "name": "CG3328-PC",
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                    "name": "uncharacterized protein, isoform C",
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                {
                    "name": "Dmel\\CG3328",
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                    "name": "Dmel\\CG3328",
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                    "name": "uncharacterized protein",
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                    "name": "HDC06756",
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                    "name": "Dmel\\CG33459",
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                    "name": "HDC06756",
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                    "name": "SP238",
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                    "name": "Homo sapiens",
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            ],
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                    "name": "Serine protease 56",
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                    "name": "3.4.21.-",
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                {
                    "name": "protease, serine 56",
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                {
                    "name": "putative serine protease 56",
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                {
                    "name": "serine protease 56 isoform 2 precursor",
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                    "name": "PRSS56",
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                {
                    "name": "MCOP6",
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        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080634"
}