{
    "disease_id": "DOID:0060648",
    "recommended_name": {
        "id": "DOID:0060648",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060648",
        "name": "anterior segment dysgenesis",
        "description": "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye."
    },
    "synonyms": [
        {
            "id": "DOID:0060648",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060648",
            "name": "anterior segment developmental anomaly",
            "description": ""
        },
        {
            "id": "DOID:0060648",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060648",
            "name": "corneal opacification and other ocular anomalies",
            "description": ""
        },
        {
            "id": "DOID:0060648",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060648",
            "name": "sclerocornea with other ocular anomalies",
            "description": ""
        },
        {
            "id": "DOID:0060648",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060648",
            "name": "iridogoniodysgenesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "anterior segment dysgenesis 1",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "anterior segment dysgenesis 1",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "anterior segment dysgenesis 1, multiple subtypes",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "ASGD1",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "ASMD",
            "description": ""
        },
        {
            "id": "MONDO:0007138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "name": "anterior segment mesenchymal dysgenesis",
            "description": ""
        },
        {
            "id": "MIM:107250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/107250",
            "name": "Anterior segment dysgenesis 1",
            "description": "Anterior segment dysgenesis 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080606",
            "label": "anterior segment dysgenesis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080607",
            "label": "anterior segment dysgenesis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080608",
            "label": "anterior segment dysgenesis 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080609",
            "label": "anterior segment dysgenesis 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080610",
            "label": "anterior segment dysgenesis 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080611",
            "label": "anterior segment dysgenesis 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080612",
            "label": "anterior segment dysgenesis 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080613",
            "label": "anterior segment dysgenesis 8",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080610",
        "DOID:0080609",
        "DOID:0080613",
        "DOID:0080611",
        "DOID:0080606",
        "DOID:0080612",
        "DOID:0060648",
        "DOID:0080608",
        "DOID:0080607"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060648",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060648",
            "categories": []
        },
        {
            "id": "MONDO:0007138",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007138",
            "categories": []
        },
        {
            "id": "MIM:107250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/107250",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M1RP87",
            "uniprot_id": "A0A8M1RP87_DANRE",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X1",
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                }
            ],
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                    "name": "cpamd8",
                    "type": "recommended"
                },
                {
                    "name": "cpamd8",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060648",
                    "database": "AGR",
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                }
            ]
        },
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                }
            ],
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                    "name": "Pituitary homeobox 3",
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                    "name": "Bicoid-like homeodomain transcription factor Pitx3",
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                },
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                    "name": "Homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 3",
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                },
                {
                    "name": "bicoid-like homeodomain transcription factor 3",
                    "type": "synonym"
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                    "name": "pituitary homeobox 3",
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                }
            ],
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                    "name": "pitx3",
                    "type": "recommended"
                },
                {
                    "name": "pitx3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-196H17.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109716",
                    "type": "synonym"
                }
            ],
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                    "id": "0060648",
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                }
            ]
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                    "name": "Danio rerio",
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                }
            ],
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                {
                    "name": "TSC complex subunit 1b",
                    "type": "synonym"
                },
                {
                    "name": "hamartin",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1b",
                    "type": "synonym"
                },
                {
                    "name": "tuberous sclerosis 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tsc1b",
                    "type": "recommended"
                },
                {
                    "name": "fc38b04",
                    "type": "synonym"
                },
                {
                    "name": "tsc1b",
                    "type": "synonym"
                },
                {
                    "name": "tsc1",
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                {
                    "name": "wu:fc38b04",
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                    "id": "0060648",
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                }
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                    "name": "tsc1a",
                    "type": "recommended"
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                    "name": "fa99f04",
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                    "name": "tsc1a",
                    "type": "synonym"
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                {
                    "name": "wu:fa99f04",
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                {
                    "name": "zgc:63657",
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                }
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                {
                    "id": "0060648",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35160-1",
            "uniprot_ac": "O35160",
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            "glycoprotein": "no",
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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": "Homeobox protein PITX3",
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                {
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                    "type": "synonym"
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                {
                    "name": "pituitary homeobox 3",
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                    "name": "Pitx3",
                    "type": "recommended"
                },
                {
                    "name": "Pitx3",
                    "type": "synonym"
                },
                {
                    "name": "Ptx3",
                    "type": "synonym"
                },
                {
                    "name": "ak",
                    "type": "synonym"
                },
                {
                    "name": "aphakia",
                    "type": "synonym"
                }
            ],
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                    "id": "0060648",
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                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "Hamartin",
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                {
                    "name": "Tuberous sclerosis 1 protein homolog",
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                },
                {
                    "name": "hamartin isoform 1",
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                {
                    "name": "hamartin",
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                    "name": "tuberous sclerosis 1 protein homolog",
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                    "name": "Tsc1",
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                    "name": "Kiaa0243",
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                    "id": "0060648",
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                }
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                    "name": "Forkhead box protein E3",
                    "type": "recommended"
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                    "name": "Rinshoken cataract",
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                    "name": "dysgenetic lens",
                    "type": "synonym"
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                    "name": "forkhead box protein E3",
                    "type": "synonym"
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                    "name": "FREAC8",
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                    "name": "Foxe3",
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                {
                    "name": "dyl",
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                    "name": "rct",
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                    "id": "0060648",
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            "uniprot_canonical_ac": "O75364-1",
            "uniprot_ac": "O75364",
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                    "name": "Homo sapiens",
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                    "name": "pituitary homeobox 3",
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                    "name": "ASMD",
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                    "id": "0060648",
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                    "id": "0060648",
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            "uniprot_canonical_ac": "Q04116-1",
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                    "name": "hepatocyte nuclear factor 3 forkhead homolog 7",
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                    "name": "Fkhl12",
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                    "name": "Foxe3",
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                    "name": "Freac8",
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                    "name": "HFH7",
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                    "name": "HNF3",
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                    "name": "Hfh7",
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                    "id": "0060648",
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                {
                    "name": "Pituitary homeobox 3",
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                },
                {
                    "name": "Homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PTX3",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor 3",
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                {
                    "name": "pituitary homeobox 3",
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                }
            ],
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                {
                    "name": "Pitx3",
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                {
                    "name": "Pitx3",
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                },
                {
                    "name": "Ptx3",
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                }
            ],
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                    "id": "0060648",
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                {
                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Hamartin",
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                {
                    "name": "Tuberous sclerosis 1 protein homolog",
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                {
                    "name": "hamartin",
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                {
                    "name": "tuberous sclerosis 1 protein homolog",
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                    "name": "Tsc1",
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                    "id": "0060648",
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            "uniprot_canonical_ac": "O18400-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Pituitary homeobox homolog Ptx1",
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                {
                    "name": "CG1447-PA",
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                {
                    "name": "D-PTX1",
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                },
                {
                    "name": "Ptx1, isoform A",
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                {
                    "name": "Ptx1-PA",
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                }
            ],
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                {
                    "name": "Ptx1",
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                {
                    "name": "CG1447",
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                {
                    "name": "D-Ptx1",
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                {
                    "name": "Dmel\\CG1447",
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                },
                {
                    "name": "Dmel_CG1447",
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                {
                    "name": "Ptx1",
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                {
                    "name": "Ptx",
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                {
                    "name": "ptx1",
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                    "id": "0060648",
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                    "name": "Homo sapiens",
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            ],
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                {
                    "name": "Serine/threonine-protein kinase MARK2",
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                {
                    "name": "2.7.11.1",
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                {
                    "name": "2.7.11.26",
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                {
                    "name": "ELKL motif kinase 1",
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                {
                    "name": "EMK-1",
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                {
                    "name": "MAP/microtubule affinity-regulating kinase 2",
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                {
                    "name": "PAR1 homolog b",
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                {
                    "name": "PAR1 homolog",
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                {
                    "name": "Par-1b",
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                {
                    "name": "Par1b",
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                },
                {
                    "name": "Ser/Thr protein kinase PAR-1B",
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                },
                {
                    "name": "serine/threonine protein kinase EMK",
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                {
                    "name": "serine/threonine-protein kinase MARK2 isoform e",
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                },
                {
                    "name": "serine/threonine-protein kinase MARK2",
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                },
                {
                    "name": "testicular tissue protein Li 117",
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                }
            ],
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                    "name": "MARK2",
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                    "name": "EMK-1",
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                {
                    "name": "EMK1",
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                {
                    "name": "MARK2",
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                {
                    "name": "MRD76",
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                {
                    "name": "PAR-1",
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                },
                {
                    "name": "Par-1b",
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                },
                {
                    "name": "Par1b",
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            ],
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                    "id": "0060648",
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                }
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8",
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                },
                {
                    "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 precursor",
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                },
                {
                    "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8",
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                {
                    "name": "alpha-2 macroglobulin family protein VIP",
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                }
            ],
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                    "name": "CPAMD8",
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                {
                    "name": "ASGD8",
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                },
                {
                    "name": "CPAMD8",
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                },
                {
                    "name": "K-CAP",
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                {
                    "name": "KIAA1283",
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                {
                    "name": "VIP",
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            ],
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                    "id": "0060648",
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                }
            ]
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            "uniprot_canonical_ac": "Q92574-1",
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            ],
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                    "name": "Hamartin",
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                    "name": "Tuberous sclerosis 1 protein",
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                {
                    "name": "hamartin isoform 1",
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                    "name": "tuberous sclerosis 1 protein",
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                    "name": "TSC1",
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                    "name": "KIAA0243",
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                    "name": "LAM",
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                {
                    "name": "TSC1",
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                    "id": "0060648",
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                }
            ]
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Forkhead box protein E3",
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                {
                    "name": "FREAC-8",
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                {
                    "name": "Forkhead-related protein FKHL12",
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                },
                {
                    "name": "Forkhead-related transcription factor 8",
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                },
                {
                    "name": "forkhead box protein E3",
                    "type": "synonym"
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                {
                    "name": "forkhead, drosophila, homolog-like 12",
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                },
                {
                    "name": "forkhead-related protein FKHL12",
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                {
                    "name": "forkhead-related transcription factor 8",
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            ],
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                    "name": "FOXE3",
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                {
                    "name": "AAT11",
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                {
                    "name": "ASGD2",
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                {
                    "name": "CATC3",
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                },
                {
                    "name": "CTRCT34",
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                {
                    "name": "FKHL12",
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                {
                    "name": "FOXE3",
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                {
                    "name": "FREAC8",
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                }
            ],
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                    "id": "0060648",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060648"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060648"
}