{
    "disease_id": "DOID:0060697",
    "recommended_name": {
        "id": "DOID:0060697",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060697",
        "name": "hyperekplexia 2",
        "description": "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32."
    },
    "synonyms": [
        {
            "id": "DOID:0060697",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060697",
            "name": "HKPX2",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "hyperekplexia 2",
            "description": "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene."
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "GLRB hereditary hyperekplexia",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "HKPX2",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "hereditary hyperekplexia caused by mutation in GLRB",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "hyperekplexia 2",
            "description": ""
        },
        {
            "id": "MONDO:0013828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "name": "hyperekplexia type 2",
            "description": ""
        },
        {
            "id": "MIM:614619",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614619",
            "name": "Hyperekplexia 2",
            "description": "Hyperekplexia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060697"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060697",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060697",
            "categories": []
        },
        {
            "id": "MONDO:0013828",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013828",
            "categories": []
        },
        {
            "id": "MIM:614619",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614619",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TUJ6-1",
            "uniprot_ac": "A0AB32TUJ6",
            "uniprot_id": "A0AB32TUJ6_DANRE",
            "refseq_ac": "XP_068076972",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Glycine receptor 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor, beta a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glrba",
                    "type": "recommended"
                },
                {
                    "name": "[b]Z",
                    "type": "synonym"
                },
                {
                    "name": "fj42f03",
                    "type": "synonym"
                },
                {
                    "name": "glrb1",
                    "type": "synonym"
                },
                {
                    "name": "glrba",
                    "type": "synonym"
                },
                {
                    "name": "glrb",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj42f03",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TUJ6-1",
            "evidence": [
                {
                    "id": "0060697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48168-1",
            "uniprot_ac": "P48168",
            "uniprot_id": "GLRB_MOUSE",
            "refseq_ac": "NP_001268898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Glycine receptor 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit beta isoform 7",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "inhibitory glycine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glrb",
                    "type": "recommended"
                },
                {
                    "name": "Glrb",
                    "type": "synonym"
                },
                {
                    "name": "Glyrb",
                    "type": "synonym"
                },
                {
                    "name": "spastic",
                    "type": "synonym"
                },
                {
                    "name": "spa",
                    "type": "synonym"
                }
            ],
            "record_id": "P48168-1",
            "evidence": [
                {
                    "id": "0060697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48167-1",
            "uniprot_ac": "P48167",
            "uniprot_id": "GLRB_HUMAN",
            "refseq_ac": "NP_000815",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycine receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Glycine receptor 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit beta isoform A precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor, beta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLRB",
                    "type": "recommended"
                },
                {
                    "name": "GLRB",
                    "type": "synonym"
                },
                {
                    "name": "HKPX2",
                    "type": "synonym"
                }
            ],
            "record_id": "P48167-1",
            "evidence": [
                {
                    "id": "614619",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614619"
                },
                {
                    "id": "0060697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20781-1",
            "uniprot_ac": "P20781",
            "uniprot_id": "GLRB_RAT",
            "refseq_ac": "NP_445748",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "Glycine receptor 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor 58 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "glycine receptor, beta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glrb",
                    "type": "recommended"
                },
                {
                    "name": "Glrb",
                    "type": "synonym"
                }
            ],
            "record_id": "P20781-1",
            "evidence": [
                {
                    "id": "0060697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q94900-1",
            "uniprot_ac": "Q94900",
            "uniprot_id": "GLUCL_DROME",
            "refseq_ac": "NP_001014641",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "GluClalpha",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:HL07853",
                    "type": "synonym"
                },
                {
                    "name": "CG7535",
                    "type": "synonym"
                },
                {
                    "name": "CT23049",
                    "type": "synonym"
                },
                {
                    "name": "Dm-GluCl",
                    "type": "synonym"
                },
                {
                    "name": "DmGluClalpha",
                    "type": "synonym"
                },
                {
                    "name": "DmGlu",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7535",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7535",
                    "type": "synonym"
                },
                {
                    "name": "DrosGlu-Cl-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl-alpha1",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DrosGluCl",
                    "type": "synonym"
                },
                {
                    "name": "GLUCL",
                    "type": "synonym"
                },
                {
                    "name": "GluCalpha",
                    "type": "synonym"
                },
                {
                    "name": "GluClalpha1",
                    "type": "synonym"
                },
                {
                    "name": "GluClalpha",
                    "type": "synonym"
                },
                {
                    "name": "GluCla",
                    "type": "synonym"
                },
                {
                    "name": "GluCl",
                    "type": "synonym"
                },
                {
                    "name": "dGluCl-alpha",
                    "type": "synonym"
                },
                {
                    "name": "glc",
                    "type": "synonym"
                },
                {
                    "name": "gluClalpha",
                    "type": "synonym"
                },
                {
                    "name": "glu",
                    "type": "synonym"
                }
            ],
            "record_id": "Q94900-1",
            "evidence": [
                {
                    "id": "0060697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060697"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0060697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060697"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25123-2",
            "uniprot_ac": "P25123",
            "uniprot_id": "GBRB_DROME",
            "refseq_ac": "NP_001261616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-aminobutyric acid receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CG10537-PF",
                    "type": "synonym"
                },
                {
                    "name": "GABA A beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "GABA receptor",
                    "type": "synonym"
                },
                {
                    "name": "GABA(A) receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Protein cyclodiene resistance",
                    "type": "synonym"
                },
                {
                    "name": "Rdl GABA[[A]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "Rdl-PF",
                    "type": "synonym"
                },
                {
                    "name": "resistance to DieLdrin",
                    "type": "synonym"
                },
                {
                    "name": "resistant to dieldrin, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "resistant to dieldrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rdl",
                    "type": "recommended"
                },
                {
                    "name": "CG10537",
                    "type": "synonym"
                },
                {
                    "name": "CT29555",
                    "type": "synonym"
                },
                {
                    "name": "DGABAAR",
                    "type": "synonym"
                },
                {
                    "name": "DmRDL",
                    "type": "synonym"
                },
                {
                    "name": "DmRdl",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10537",
                    "type": "synonym"
                },
                {
                    "name": "GABA-R",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR",
                    "type": "synonym"
                },
                {
                    "name": "GABAR",
                    "type": "synonym"
                },
                {
                    "name": "GABA[[A]] receptor",
                    "type": "synonym"
                },
                {
                    "name": "GABA[[A]]-R",
                    "type": "synonym"
                },
                {
                    "name": "GABA[[A]]R",
                    "type": "synonym"
                },
                {
                    "name": "GABA[[A]]",
                    "type": "synonym"
                },
                {
                    "name": "GABAr",
                    "type": "synonym"
                },
                {
                    "name": "GABA",
                    "type": "synonym"
                },
                {
                    "name": "LCCH1",
                    "type": "synonym"
                },
                {
                    "name": "RDL",
                    "type": "synonym"
                },
                {
                    "name": "Rd1",
                    "type": "synonym"
                },
                {
                    "name": "Rdl",
                    "type": "synonym"
                },
                {
                    "name": "gaba",
                    "type": "synonym"
                },
                {
                    "name": "rdl",
                    "type": "synonym"
                }
            ],
            "record_id": "P25123-2",
            "evidence": [
                {
                    "id": "0060697",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060697"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060697"
}