{
    "disease_id": "DOID:0060558",
    "recommended_name": {
        "id": "DOID:0060558",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060558",
        "name": "lethal congenital contracture syndrome",
        "description": "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth."
    },
    "synonyms": [
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal congenital contracture syndrome 1",
            "description": "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies."
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "GLE1 lethal congenital contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "Herva disease",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "LCCS1",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal congenital contracture syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal congenital contracture syndrome caused by mutation in GLE1",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal congenital contracture syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "multiple contracture syndrome, Finnish type",
            "description": ""
        },
        {
            "id": "MONDO:0009670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "name": "lethal autosomal recessive syndrome of multiple congenital contractures",
            "description": ""
        },
        {
            "id": "MIM:253310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253310",
            "name": "Lethal congenital contracture syndrome 1",
            "description": "Lethal congenital contracture syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060559",
            "label": "lethal congenital contracture syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060560",
            "label": "lethal congenital contracture syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060653",
            "label": "lethal congenital contracture syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060654",
            "label": "lethal congenital contracture syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061261",
            "label": "lethal congenital contracture syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061262",
            "label": "lethal congenital contracture syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061263",
            "label": "lethal congenital contracture syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061264",
            "label": "lethal congenital contracture syndrome 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061265",
            "label": "lethal congenital contracture syndrome 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061266",
            "label": "lethal congenital contracture syndrome 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061267",
            "label": "lethal congenital contracture syndrome 11",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0061266",
        "DOID:0061264",
        "DOID:0060559",
        "DOID:0060558",
        "DOID:0061265",
        "DOID:0061267",
        "DOID:0060560",
        "DOID:0061261",
        "DOID:0061262",
        "DOID:0061263",
        "DOID:0060653",
        "DOID:0060654"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060558",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060558",
            "categories": []
        },
        {
            "id": "MONDO:0009670",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009670",
            "categories": []
        },
        {
            "id": "MIM:253310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253310",
            "categories": []
        }
    ],
    "proteins": [
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            "uniprot_ac": "A0A8M1RMQ6",
            "uniprot_id": "A0A8M1RMQ6_DANRE",
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            "glycoprotein": "no",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "adenylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type 6",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "adcy6b",
                    "type": "recommended"
                },
                {
                    "name": "adcy6b",
                    "type": "synonym"
                }
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                {
                    "id": "0060558",
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                }
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        },
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            "uniprot_canonical_ac": "A0A8M6Z3Y2-1",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Adenylate cyclase type 6",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type 6 isoform X1",
                    "type": "synonym"
                }
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                {
                    "name": "adcy6a",
                    "type": "recommended"
                },
                {
                    "name": "adcy6a",
                    "type": "synonym"
                }
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                    "id": "0060558",
                    "database": "AGR",
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                }
            ]
        },
        {
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            "uniprot_ac": "A0A8N7TDM7",
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            "refseq_ac": "XP_694580",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "contactin-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cntnap1",
                    "type": "recommended"
                },
                {
                    "name": "cntnap1",
                    "type": "synonym"
                }
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                {
                    "id": "0060558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
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            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TD14-1",
            "uniprot_ac": "A0AB32TD14",
            "uniprot_id": "A0AB32TD14_DANRE",
            "refseq_ac": "XP_068073278",
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            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "dynamin GTPase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.5",
                    "type": "synonym"
                },
                {
                    "name": "dynamin-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnm2a",
                    "type": "recommended"
                },
                {
                    "name": "dnm2a",
                    "type": "synonym"
                },
                {
                    "name": "dnm2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114072",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TD14-1",
            "evidence": [
                {
                    "id": "0060558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "C6KFA3-1",
            "uniprot_ac": "C6KFA3",
            "uniprot_id": "AGRG6_DANRE",
            "refseq_ac": "NP_001156763",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adhesion G protein-coupled receptor G6",
                    "type": "recommended"
                },
                {
                    "name": "ADGRG6 C-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG6 N-terminal fragment",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG6-CTF",
                    "type": "synonym"
                },
                {
                    "name": "ADGRG6-NTF",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 126",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 126",
                    "type": "synonym"
                },
                {
                    "name": "adhesion G-protein coupled receptor G6 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bge",
                    "type": "synonym"
                },
                {
                    "name": "big ears",
                    "type": "synonym"
                },
                {
                    "name": "lauscher",
                    "type": "synonym"
                },
                {
                    "name": "lau",
                    "type": "synonym"
                },
                {
                    "name": "unm st49",
                    "type": "synonym"
                },
                {
                    "name": "unm_st49",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adgrg6",
                    "type": "recommended"
                },
                {
                    "name": "adgrg6",
                    "type": "synonym"
                },
                {
                    "name": "gpr126",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-202p1.3",
                    "type": "synonym"
                }
            ],
            "record_id": "C6KFA3-1",
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                    "id": "0060558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
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            "uniprot_canonical_ac": "A0A8M9P157-1",
            "uniprot_ac": "A0A8M9P157",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gliomedin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "gliomedin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gldn",
                    "type": "recommended"
                },
                {
                    "name": "colm",
                    "type": "synonym"
                },
                {
                    "name": "gldn",
                    "type": "synonym"
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            "record_id": "A0A8M9P157-1",
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                    "id": "0060558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
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        },
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            "uniprot_canonical_ac": "A0AC58HQ89-1",
            "uniprot_ac": "A0AC58HQ89",
            "uniprot_id": "A0AC58HQ89_DANRE",
            "refseq_ac": "XP_073784133",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger and BTB domain-containing protein 18",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein 238",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger and BTB domain-containing protein 42 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zbtb42",
                    "type": "recommended"
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                {
                    "name": "zbtb42",
                    "type": "synonym"
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            "record_id": "A0AC58HQ89-1",
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                    "id": "0060558",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
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            "uniprot_canonical_ac": "Q01341-1",
            "uniprot_ac": "Q01341",
            "uniprot_id": "ADCY6_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate cyclase type 6",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "AC6",
                    "type": "synonym"
                },
                {
                    "name": "ATP pyrophosphate-lyase 6",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase type VI",
                    "type": "synonym"
                },
                {
                    "name": "Adenylyl cyclase 6",
                    "type": "synonym"
                },
                {
                    "name": "Ca(2+)-inhibitable adenylyl cyclase",
                    "type": "synonym"
                }
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                {
                    "name": "Adcy6",
                    "type": "recommended"
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            "record_id": "Q01341-1",
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                    "id": "0060558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
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            "uniprot_canonical_ac": "O54991-1",
            "uniprot_ac": "O54991",
            "uniprot_id": "CNTP1_MOUSE",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-associated protein 1",
                    "type": "recommended"
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                {
                    "name": "Caspr1",
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                {
                    "name": "Caspr",
                    "type": "synonym"
                },
                {
                    "name": "MHDNIV",
                    "type": "synonym"
                },
                {
                    "name": "NCP1",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin IV",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-4",
                    "type": "synonym"
                },
                {
                    "name": "Paranodin",
                    "type": "synonym"
                },
                {
                    "name": "caspr1",
                    "type": "synonym"
                },
                {
                    "name": "contactin-associated protein 1 precursor",
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                {
                    "name": "contactin-associated protein 1",
                    "type": "synonym"
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                {
                    "name": "neurexin 4 (contactin associated protein)",
                    "type": "synonym"
                },
                {
                    "name": "neurexin IV",
                    "type": "synonym"
                },
                {
                    "name": "neurexin-4",
                    "type": "synonym"
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                {
                    "name": "paranodin",
                    "type": "synonym"
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                {
                    "name": "Cntnap1",
                    "type": "recommended"
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                {
                    "name": "Caspr",
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                {
                    "name": "Cntnap1",
                    "type": "synonym"
                },
                {
                    "name": "NCP1",
                    "type": "synonym"
                },
                {
                    "name": "Nrxn4",
                    "type": "synonym"
                },
                {
                    "name": "p190",
                    "type": "synonym"
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                {
                    "name": "shm",
                    "type": "synonym"
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                    "id": "0060558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
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            "uniprot_canonical_ac": "P39054-1",
            "uniprot_ac": "P39054",
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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": "Dynamin-2",
                    "type": "recommended"
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                {
                    "name": "3.6.5.5",
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                {
                    "name": "Dynamin UDNM",
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                {
                    "name": "dynamin-2 isoform 1",
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                    "name": "Dnm2",
                    "type": "recommended"
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                    "name": "Dnm2",
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                {
                    "name": "Dyn2",
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                {
                    "name": "Udnm",
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                {
                    "name": "b2b2159Clo",
                    "type": "synonym"
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                    "id": "0060558",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Adhesion G protein-coupled receptor G6",
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                {
                    "name": "ADGRG6 C-terminal fragment",
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                {
                    "name": "ADGRG6 N-terminal fragment",
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                {
                    "name": "ADGRG6-CTF",
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                {
                    "name": "ADGRG6-NTF",
                    "type": "synonym"
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                {
                    "name": "Developmentally regulated G protein-coupled receptor",
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                {
                    "name": "G protein coupled receptor Gpr126",
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                {
                    "name": "G protein-coupled receptor 126",
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                },
                {
                    "name": "adhesion G-protein coupled receptor G6 precursor",
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                {
                    "name": "developmentally regulated G-protein-coupled receptor",
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                    "name": "Dreg",
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                {
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                    "name": "Colm",
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                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG43373-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CG12436",
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                },
                {
                    "name": "CG32158",
                    "type": "recommended"
                },
                {
                    "name": "AC",
                    "type": "synonym"
                },
                {
                    "name": "CG12436",
                    "type": "synonym"
                },
                {
                    "name": "CG32158",
                    "type": "synonym"
                },
                {
                    "name": "CG42513",
                    "type": "synonym"
                },
                {
                    "name": "CG43373",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43373",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43373",
                    "type": "synonym"
                },
                {
                    "name": "dADCY5",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060558",
                    "database": "AGR",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q94887-1",
            "uniprot_ac": "Q94887",
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                {
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                }
            ],
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                {
                    "name": "Neurexin-4",
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                {
                    "name": "CG6827-PA",
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                },
                {
                    "name": "Neurexin IV",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-4",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-IV",
                    "type": "synonym"
                },
                {
                    "name": "Nrx-IV-PA",
                    "type": "synonym"
                },
                {
                    "name": "neurexin 4",
                    "type": "synonym"
                },
                {
                    "name": "neurexin IV, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "neurexin IV",
                    "type": "synonym"
                },
                {
                    "name": "neurexinIV",
                    "type": "synonym"
                },
                {
                    "name": "neurexin",
                    "type": "synonym"
                },
                {
                    "name": "rose-gespleten region interval 23",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Nrx-IV",
                    "type": "recommended"
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                {
                    "name": "CG6827",
                    "type": "synonym"
                },
                {
                    "name": "CG682",
                    "type": "synonym"
                },
                {
                    "name": "CNTNAP2",
                    "type": "synonym"
                },
                {
                    "name": "CT21123",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6827",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6827",
                    "type": "synonym"
                },
                {
                    "name": "Dnrx",
                    "type": "synonym"
                },
                {
                    "name": "NRX IV",
                    "type": "synonym"
                },
                {
                    "name": "NRX",
                    "type": "synonym"
                },
                {
                    "name": "Nrx IV",
                    "type": "synonym"
                },
                {
                    "name": "Nrx-IV",
                    "type": "synonym"
                },
                {
                    "name": "Nrx4",
                    "type": "synonym"
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                {
                    "name": "NrxIV",
                    "type": "synonym"
                },
                {
                    "name": "Nrx",
                    "type": "synonym"
                },
                {
                    "name": "Nx IV",
                    "type": "synonym"
                },
                {
                    "name": "l(3)68Ff",
                    "type": "synonym"
                },
                {
                    "name": "l(3)rsg23",
                    "type": "synonym"
                },
                {
                    "name": "neurexin",
                    "type": "synonym"
                },
                {
                    "name": "nrx IV",
                    "type": "synonym"
                },
                {
                    "name": "nrx-IV",
                    "type": "synonym"
                },
                {
                    "name": "nrx-iv",
                    "type": "synonym"
                },
                {
                    "name": "nrx4",
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                },
                {
                    "name": "nrxIV",
                    "type": "synonym"
                },
                {
                    "name": "nrx",
                    "type": "synonym"
                },
                {
                    "name": "rsg23",
                    "type": "synonym"
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            ],
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                {
                    "id": "0060558",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
                }
            ]
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            ],
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                    "name": "Dynamin",
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                    "name": "3.6.5.5",
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                {
                    "name": "CG18102-PH",
                    "type": "synonym"
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                {
                    "name": "Protein shibire",
                    "type": "synonym"
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                {
                    "name": "dDyn",
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                {
                    "name": "dynamin",
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                {
                    "name": "shi-PH",
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                {
                    "name": "shibere",
                    "type": "synonym"
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                {
                    "name": "shibire, isoform H",
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                {
                    "name": "shibire",
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                {
                    "name": "shibiri",
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                }
            ],
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                {
                    "name": "shi",
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                    "name": "CG18102",
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                    "name": "DNM3",
                    "type": "synonym"
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                {
                    "name": "DYN",
                    "type": "synonym"
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                {
                    "name": "Ddyn3",
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                {
                    "name": "Ddyn4",
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                {
                    "name": "Ddyn",
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                {
                    "name": "Dmel\\CG18102",
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                {
                    "name": "Dmel_CG18102",
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                    "name": "Dyn",
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                    "name": "Shibire",
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                {
                    "name": "Shi",
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                {
                    "name": "Vps1",
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                {
                    "name": "anon-WO0153538.12",
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                {
                    "name": "anon-WO0153538.13",
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                {
                    "name": "anon-WO0153538.14",
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                    "name": "dDyn",
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                    "name": "dynamin",
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                    "name": "dyn",
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                {
                    "name": "l(1)VII",
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                {
                    "name": "l(1)shi",
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                    "name": "shibere",
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                {
                    "name": "shib",
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                {
                    "name": "shi",
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                {
                    "name": "shu",
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            ],
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                    "id": "0060558",
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                    "name": "Dmel_CG10951",
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                    "name": "PRO1571",
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                    "id": "0060558",
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                    "name": "ZBTB42",
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                    "name": "ZBTB42",
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                {
                    "name": "ZNF925",
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                    "id": "0060558",
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                    "name": "NimA-related kinase 8",
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                {
                    "name": "NimA-related protein kinase 9",
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                    "name": "nercc1 kinase",
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                    "name": "nimA-related protein kinase 9",
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                    "name": "KIAA1995",
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                {
                    "name": "LCCS10",
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                    "name": "NC",
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                    "name": "NEK8",
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                {
                    "name": "NEK9",
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                {
                    "name": "NERCC1",
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                    "name": "NERCC",
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                    "id": "0060558",
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                    "name": "Gliomedin",
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                    "name": "collomin",
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                {
                    "name": "colmedin",
                    "type": "synonym"
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                {
                    "name": "gliomedin isoform 2",
                    "type": "synonym"
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                    "name": "GLDN",
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                    "name": "CLOM",
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                    "name": "COLM",
                    "type": "synonym"
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                {
                    "name": "CRG-L2",
                    "type": "synonym"
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                {
                    "name": "CRGL2",
                    "type": "synonym"
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                {
                    "name": "GLDN",
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                {
                    "name": "LCCS11",
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                {
                    "name": "PRO34011",
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                {
                    "name": "UNC-112",
                    "type": "synonym"
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                {
                    "name": "UNC-122",
                    "type": "synonym"
                }
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                    "id": "0060558",
                    "database": "AGR",
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                    "name": "Homo sapiens",
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                {
                    "name": "Adhesion G protein-coupled receptor G6",
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                {
                    "name": "ADGRG6 C-terminal fragment",
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                {
                    "name": "ADGRG6 N-terminal fragment",
                    "type": "synonym"
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                {
                    "name": "ADGRG6-CTF",
                    "type": "synonym"
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                {
                    "name": "ADGRG6-NTF",
                    "type": "synonym"
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                {
                    "name": "Developmentally regulated G protein-coupled receptor",
                    "type": "synonym"
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                {
                    "name": "G protein-coupled receptor 126",
                    "type": "synonym"
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                {
                    "name": "G-protein coupled receptor 126",
                    "type": "synonym"
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                {
                    "name": "HBV PreS1-transactivated protein 2",
                    "type": "synonym"
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                {
                    "name": "Vascular inducible G protein-coupled receptor",
                    "type": "synonym"
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                {
                    "name": "adhesion G-protein coupled receptor G6 isoform alpha 2 precursor",
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                },
                {
                    "name": "developmentally regulated G-protein-coupled receptor",
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                {
                    "name": "vascular-inducible G protein-coupled receptor",
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                    "name": "ADGRG6",
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                    "name": "ADGRG6",
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                {
                    "name": "APG1",
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                {
                    "name": "DREG",
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                {
                    "name": "GPR126",
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                    "name": "PR126",
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                {
                    "name": "PS1TP2",
                    "type": "synonym"
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                {
                    "name": "STQTL1",
                    "type": "synonym"
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                {
                    "name": "VIGR",
                    "type": "synonym"
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                    "id": "0060558",
                    "database": "AGR",
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            "uniprot_canonical_ac": "P50570-1",
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
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            ],
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                    "name": "Dynamin-2",
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                    "name": "3.6.5.5",
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                {
                    "name": "Dynamin 2",
                    "type": "synonym"
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                {
                    "name": "Dynamin II",
                    "type": "synonym"
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                {
                    "name": "dynamin II",
                    "type": "synonym"
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                {
                    "name": "dynamin-2 isoform 1",
                    "type": "synonym"
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                    "name": "DNM2",
                    "type": "recommended"
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                {
                    "name": "CMT2M",
                    "type": "synonym"
                },
                {
                    "name": "CMTDI1",
                    "type": "synonym"
                },
                {
                    "name": "CMTDIB",
                    "type": "synonym"
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                {
                    "name": "DI-CMTB",
                    "type": "synonym"
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                {
                    "name": "DNM2",
                    "type": "synonym"
                },
                {
                    "name": "DYN2",
                    "type": "synonym"
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                {
                    "name": "DYNII",
                    "type": "synonym"
                },
                {
                    "name": "LCCS5",
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                }
            ],
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                {
                    "id": "0060558",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P78357-1",
            "uniprot_ac": "P78357",
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                }
            ],
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                    "name": "Caspr1",
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                },
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                    "name": "Caspr",
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                },
                {
                    "name": "Neurexin IV",
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                {
                    "name": "Neurexin-4",
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                {
                    "name": "caspr1",
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                {
                    "name": "contactin-associated protein 1 precursor",
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                {
                    "name": "neurexin IV",
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                {
                    "name": "neurexin-4",
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                {
                    "name": "p190",
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            ],
            "gene_names": [
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                    "name": "CNTNAP1",
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                    "name": "CASPR",
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                },
                {
                    "name": "CHN3",
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                },
                {
                    "name": "CNTNAP1",
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                {
                    "name": "CNTNAP",
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                {
                    "name": "NRXN4",
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                    "name": "P190",
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            "uniprot_ac": "O43306",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Adenylate cyclase type 6",
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                {
                    "name": "4.6.1.1",
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                },
                {
                    "name": "ATP pyrophosphate-lyase 6",
                    "type": "synonym"
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                {
                    "name": "Adenylate cyclase type VI",
                    "type": "synonym"
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                {
                    "name": "Adenylyl cyclase 6",
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                {
                    "name": "Ca(2+)-inhibitable adenylyl cyclase",
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                {
                    "name": "adenylate cyclase type 6 isoform 1",
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                {
                    "name": "adenylate cyclase type 6",
                    "type": "synonym"
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                {
                    "name": "adenylate cyclase type VI",
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                },
                {
                    "name": "ca(2+)-inhibitable adenylyl cyclase",
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            ],
            "gene_names": [
                {
                    "name": "ADCY6",
                    "type": "recommended"
                },
                {
                    "name": "AC6",
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                },
                {
                    "name": "ADCY6",
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                },
                {
                    "name": "KIAA0422",
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                {
                    "name": "LCCS8",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060558"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060558"
}