{
    "disease_id": "DOID:0060698",
    "recommended_name": {
        "id": "DOID:0060698",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060698",
        "name": "hyperekplexia 3",
        "description": "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0060698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060698",
            "name": "HKPX3",
            "description": ""
        },
        {
            "id": "MONDO:0013827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013827",
            "name": "hyperekplexia 3",
            "description": "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene."
        },
        {
            "id": "MONDO:0013827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013827",
            "name": "HKPX3",
            "description": ""
        },
        {
            "id": "MONDO:0013827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013827",
            "name": "SLC6A5 hereditary hyperekplexia",
            "description": ""
        },
        {
            "id": "MONDO:0013827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013827",
            "name": "hereditary hyperekplexia caused by mutation in SLC6A5",
            "description": ""
        },
        {
            "id": "MONDO:0013827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013827",
            "name": "hyperekplexia 3",
            "description": ""
        },
        {
            "id": "MONDO:0013827",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013827",
            "name": "hyperekplexia type 3",
            "description": ""
        },
        {
            "id": "MIM:614618",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614618",
            "name": "Hyperekplexia 3",
            "description": "Hyperekplexia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060698"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060698",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060698",
            "categories": []
        },
        {
            "id": "MONDO:0013827",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013827",
            "categories": []
        },
        {
            "id": "MIM:614618",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614618",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q761V0-1",
            "uniprot_ac": "Q761V0",
            "uniprot_id": "SC6A5_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": "Sodium- and chloride-dependent glycine transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "GlyT-2",
                    "type": "synonym"
                },
                {
                    "name": "GlyT2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a5",
                    "type": "recommended"
                },
                {
                    "name": "Glyt2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q761V0-1",
            "evidence": [
                {
                    "id": "0060698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060698"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y345-1",
            "uniprot_ac": "Q9Y345",
            "uniprot_id": "SC6A5_HUMAN",
            "refseq_ac": "NP_001305298",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium- and chloride-dependent glycine transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "GlyT-2",
                    "type": "synonym"
                },
                {
                    "name": "GlyT2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 5",
                    "type": "synonym"
                },
                {
                    "name": "norepinephrine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium- and chloride-dependent glycine transporter 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium- and chloride-dependent glycine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, glycine), member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC6A5",
                    "type": "recommended"
                },
                {
                    "name": "GLYT-2",
                    "type": "synonym"
                },
                {
                    "name": "GLYT2",
                    "type": "synonym"
                },
                {
                    "name": "HKPX3",
                    "type": "synonym"
                },
                {
                    "name": "NET1",
                    "type": "synonym"
                },
                {
                    "name": "SLC6A5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y345-1",
            "evidence": [
                {
                    "id": "614618",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614618"
                },
                {
                    "id": "0060698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060698"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58295-1",
            "uniprot_ac": "P58295",
            "uniprot_id": "SC6A5_RAT",
            "refseq_ac": "NP_976079",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium- and chloride-dependent glycine transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "GlyT-2",
                    "type": "synonym"
                },
                {
                    "name": "GlyT2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 5",
                    "type": "synonym"
                },
                {
                    "name": "glyT-2",
                    "type": "synonym"
                },
                {
                    "name": "glycine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium- and chloride-dependent glycine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 5",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, glycine), member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a5",
                    "type": "recommended"
                },
                {
                    "name": "GLYT2",
                    "type": "synonym"
                },
                {
                    "name": "Glyt2",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a5",
                    "type": "synonym"
                }
            ],
            "record_id": "P58295-1",
            "evidence": [
                {
                    "id": "0060698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060698"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1J0-1",
            "uniprot_ac": "Q9W1J0",
            "uniprot_id": "Q9W1J0_DROME",
            "refseq_ac": "NP_611836",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG5549-PB",
                    "type": "synonym"
                },
                {
                    "name": "GlyT-PB",
                    "type": "synonym"
                },
                {
                    "name": "glycine transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GlyT",
                    "type": "recommended"
                },
                {
                    "name": "CG5549",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5549",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5549",
                    "type": "synonym"
                },
                {
                    "name": "GlyT",
                    "type": "synonym"
                },
                {
                    "name": "dGlyT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1J0-1",
            "evidence": [
                {
                    "id": "0060698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060698"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060698"
}