{
    "disease_id": "DOID:0060695",
    "recommended_name": {
        "id": "DOID:0060695",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060695",
        "name": "hyperekplexia",
        "description": "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia."
    },
    "synonyms": [
        {
            "id": "DOID:0060695",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060695",
            "name": "Kok disease",
            "description": ""
        },
        {
            "id": "DOID:0060695",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060695",
            "name": "congenital stiff man syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060695",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060695",
            "name": "familial startle disease",
            "description": ""
        },
        {
            "id": "DOID:0060695",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060695",
            "name": "hereditary hyperekplexia",
            "description": ""
        },
        {
            "id": "DOID:0060695",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060695",
            "name": "startle disease",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia 1",
            "description": "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "HKPX1",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia, hereditary type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "name": "hyperekplexia, hereditary 1",
            "description": ""
        },
        {
            "id": "MIM:149400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/149400",
            "name": "Hyperekplexia 1",
            "description": "Hyperekplexia 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060696",
            "label": "hyperekplexia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060697",
            "label": "hyperekplexia 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060698",
            "label": "hyperekplexia 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080581",
            "label": "hyperekplexia 4",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060695",
        "DOID:0060696",
        "DOID:0060697",
        "DOID:0080581",
        "DOID:0060698"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060695",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060695",
            "categories": []
        },
        {
            "id": "MONDO:0007868",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007868",
            "categories": []
        },
        {
            "id": "MIM:149400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/149400",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "O93430-1",
            "uniprot_ac": "O93430",
            "uniprot_id": "GLRA1_DANRE",
            "refseq_ac": "NP_571477",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit alphaZ1",
                    "type": "recommended"
                },
                {
                    "name": "GlyR [a]Z1",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alphaZ1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alphaZ1",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor, alphaZ1 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glra1",
                    "type": "recommended"
                },
                {
                    "name": "[a]Z1",
                    "type": "synonym"
                },
                {
                    "name": "glra1",
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                }
            ],
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64018-1",
            "uniprot_ac": "Q64018",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Glycine receptor subunit alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "Glycine receptor 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Glra1",
                    "type": "recommended"
                },
                {
                    "name": "Glra1",
                    "type": "synonym"
                },
                {
                    "name": "nmf11",
                    "type": "synonym"
                },
                {
                    "name": "oscillator",
                    "type": "synonym"
                },
                {
                    "name": "ot",
                    "type": "synonym"
                },
                {
                    "name": "spasmodic",
                    "type": "synonym"
                },
                {
                    "name": "spd",
                    "type": "synonym"
                }
            ],
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                    "id": "0060695",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23415-1",
            "uniprot_ac": "P23415",
            "uniprot_id": "GLRA1_HUMAN",
            "refseq_ac": "NP_000162",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "Glycine receptor 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLRA1",
                    "type": "recommended"
                },
                {
                    "name": "GLRA1",
                    "type": "synonym"
                },
                {
                    "name": "HKPX1",
                    "type": "synonym"
                },
                {
                    "name": "STHE",
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                }
            ],
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                {
                    "id": "149400",
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                    "url": "https://www.omim.org/entry/149400"
                },
                {
                    "id": "0060695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07727-1",
            "uniprot_ac": "P07727",
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            "refseq_ac": "NP_037265",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "Glycine receptor 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor 48 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor strychnine-binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor, alpha 1 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glra1",
                    "type": "recommended"
                },
                {
                    "name": "GLYRA1",
                    "type": "synonym"
                },
                {
                    "name": "Glra1",
                    "type": "synonym"
                },
                {
                    "name": "Glyr",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI70-1",
            "uniprot_ac": "M9PI70",
            "uniprot_id": "M9PI70_DROME",
            "refseq_ac": "NP_001261898",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG44099-PN",
                    "type": "synonym"
                },
                {
                    "name": "PH-sensitive chloride channel 1, isoform N",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-gated chloride channel-like",
                    "type": "synonym"
                },
                {
                    "name": "pH-sensitive chloride channel 1, isoform N",
                    "type": "synonym"
                },
                {
                    "name": "pH-sensitive chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "pHCl-1-PN",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "pHCl-1",
                    "type": "recommended"
                },
                {
                    "name": "BP1024",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH21757",
                    "type": "synonym"
                },
                {
                    "name": "CG12486",
                    "type": "synonym"
                },
                {
                    "name": "CG13444",
                    "type": "synonym"
                },
                {
                    "name": "CG33989",
                    "type": "synonym"
                },
                {
                    "name": "CG44099",
                    "type": "synonym"
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                {
                    "name": "CG6112",
                    "type": "synonym"
                },
                {
                    "name": "CT19189",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44099",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG44099",
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                {
                    "name": "pHCL-A",
                    "type": "synonym"
                },
                {
                    "name": "pHCl-1",
                    "type": "synonym"
                },
                {
                    "name": "pHCl",
                    "type": "synonym"
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                    "id": "0060695",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Glutamate-gated chloride channel",
                    "type": "recommended"
                },
                {
                    "name": "CG7535-PL",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl",
                    "type": "synonym"
                },
                {
                    "name": "GluClalpha-PL",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate-gated chloride channel subunit alpha, isoform L",
                    "type": "synonym"
                },
                {
                    "name": "glutamate-gated chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "indefinite",
                    "type": "synonym"
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            ],
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                    "name": "GluClalpha",
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                {
                    "name": "BcDNA:HL07853",
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                {
                    "name": "CG7535",
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                {
                    "name": "CT23049",
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                    "name": "Dm-GluCl",
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                {
                    "name": "DmGluClalpha",
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                {
                    "name": "DmGlu",
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                {
                    "name": "Dmel\\CG7535",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7535",
                    "type": "synonym"
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                {
                    "name": "DrosGlu-Cl-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl-alpha",
                    "type": "synonym"
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                {
                    "name": "DrosGluCl",
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                },
                {
                    "name": "GLUCL",
                    "type": "synonym"
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                {
                    "name": "GluCalpha",
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                {
                    "name": "GluClalpha1",
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                {
                    "name": "GluClalpha",
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                {
                    "name": "GluCla",
                    "type": "synonym"
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                {
                    "name": "GluCl",
                    "type": "synonym"
                },
                {
                    "name": "dGluCl-alpha",
                    "type": "synonym"
                },
                {
                    "name": "glc",
                    "type": "synonym"
                },
                {
                    "name": "gluClalpha",
                    "type": "synonym"
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                {
                    "name": "glu",
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            ],
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                    "id": "0060695",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060695"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9VDU9-1",
            "uniprot_ac": "Q9VDU9",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG7411-PA",
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                },
                {
                    "name": "Histamine-gated chloride channel subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Ora transientless",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor alpha2-like",
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                },
                {
                    "name": "histamine-gated chloride channel subunit 1",
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                {
                    "name": "indefinite",
                    "type": "synonym"
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                {
                    "name": "ora transientless",
                    "type": "synonym"
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                {
                    "name": "ort-PA",
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                {
                    "name": "outer rhabdomere absent",
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                },
                {
                    "name": "outer rhabdomeres absent",
                    "type": "synonym"
                },
                {
                    "name": "outer rhabdomeres transientless",
                    "type": "synonym"
                },
                {
                    "name": "outer-rhabdomeres-absent",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ort",
                    "type": "recommended"
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                    "name": "CG7411",
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                },
                {
                    "name": "CT22815",
                    "type": "synonym"
                },
                {
                    "name": "DMHisClalpha1",
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                },
                {
                    "name": "Dm-hclA",
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                {
                    "name": "DmHisCl2",
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                {
                    "name": "Dmel\\CG7411",
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                {
                    "name": "Dmel_CG7411",
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                },
                {
                    "name": "GluCI",
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                {
                    "name": "HA-CI I",
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                {
                    "name": "HclA",
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                {
                    "name": "HisC12",
                    "type": "synonym"
                },
                {
                    "name": "HisCI2",
                    "type": "synonym"
                },
                {
                    "name": "HisCl-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "HisCl2",
                    "type": "synonym"
                },
                {
                    "name": "HisCl",
                    "type": "synonym"
                },
                {
                    "name": "Hist1",
                    "type": "synonym"
                },
                {
                    "name": "ORT",
                    "type": "synonym"
                },
                {
                    "name": "Ort",
                    "type": "synonym"
                },
                {
                    "name": "hclA",
                    "type": "synonym"
                },
                {
                    "name": "hisCl2",
                    "type": "synonym"
                },
                {
                    "name": "ora",
                    "type": "synonym"
                },
                {
                    "name": "ort",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGI0-1",
            "uniprot_ac": "Q9VGI0",
            "uniprot_id": "Q9VGI0_DROME",
            "refseq_ac": "NP_731632",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG14723-PA",
                    "type": "synonym"
                },
                {
                    "name": "HisCl1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Histamine-gated chloride channel subunit 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor alpha3 subunit-like",
                    "type": "synonym"
                },
                {
                    "name": "histamine-gated chloride channel subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HisCl1",
                    "type": "recommended"
                },
                {
                    "name": "CG14723",
                    "type": "synonym"
                },
                {
                    "name": "CT34515",
                    "type": "synonym"
                },
                {
                    "name": "DMHisClalpha2",
                    "type": "synonym"
                },
                {
                    "name": "Dm-HCLB",
                    "type": "synonym"
                },
                {
                    "name": "DmHisCl1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14723",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14723",
                    "type": "synonym"
                },
                {
                    "name": "HA-CI II",
                    "type": "synonym"
                },
                {
                    "name": "HisCl-alpha2",
                    "type": "synonym"
                },
                {
                    "name": "HisCl1",
                    "type": "synonym"
                },
                {
                    "name": "HisCl",
                    "type": "synonym"
                },
                {
                    "name": "hclB",
                    "type": "synonym"
                },
                {
                    "name": "hisCl1",
                    "type": "synonym"
                },
                {
                    "name": "hiscl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGI0-1",
            "evidence": [
                {
                    "id": "0060695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4G1-1",
            "uniprot_ac": "Q9W4G1",
            "uniprot_id": "Q9W4G1_DROME",
            "refseq_ac": "NP_572194",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "pH-sensitive chloride channel 2",
                    "type": "recommended"
                },
                {
                    "name": "CG6927-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ligand-gated chloride channel protein hodor",
                    "type": "synonym"
                },
                {
                    "name": "glycine-gated chloride channel-like",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CT21430",
                    "type": "recommended"
                },
                {
                    "name": "CG6927",
                    "type": "synonym"
                },
                {
                    "name": "CT21430",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6927",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6927",
                    "type": "synonym"
                },
                {
                    "name": "Lcch-4D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4G1-1",
            "evidence": [
                {
                    "id": "0060695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060695"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27707-1",
            "uniprot_ac": "P27707",
            "uniprot_id": "DCK_HUMAN",
            "refseq_ac": "NP_000779",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxycytidine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.113",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.74",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.76",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyadenosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyguanosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "dCK",
                    "type": "synonym"
                },
                {
                    "name": "deoxyadenosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "deoxycytidine kinase",
                    "type": "synonym"
                },
                {
                    "name": "deoxyguanosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "deoxynucleoside kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCK",
                    "type": "recommended"
                },
                {
                    "name": "DCK",
                    "type": "synonym"
                }
            ],
            "record_id": "P27707-1",
            "evidence": [
                {
                    "id": "0060695",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060695"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060695"
}