{
    "disease_id": "DOID:0080237",
    "recommended_name": {
        "id": "DOID:0080237",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080237",
        "name": "autosomal dominant intellectual developmental disorder 46",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "DOID:0080237",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080237",
            "name": "autosomal dominant mental retardation 46",
            "description": ""
        },
        {
            "id": "MONDO:0030911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030911",
            "name": "intellectual disability, autosomal dominant 46",
            "description": ""
        },
        {
            "id": "MONDO:0030911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030911",
            "name": "intellectual disability, autosomal dominant 46",
            "description": ""
        },
        {
            "id": "MONDO:0030911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030911",
            "name": "MRD46",
            "description": ""
        },
        {
            "id": "MONDO:0030911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030911",
            "name": "autosomal dominant mental retardation 46",
            "description": ""
        },
        {
            "id": "MONDO:0030911",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030911",
            "name": "mental retardation, autosomal dominant 46",
            "description": ""
        },
        {
            "id": "MIM:617601",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617601",
            "name": "Intellectual developmental disorder, autosomal dominant 46",
            "description": "Intellectual developmental disorder, autosomal dominant 46"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080237"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080237",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080237",
            "categories": []
        },
        {
            "id": "MONDO:0030911",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030911",
            "categories": []
        },
        {
            "id": "MIM:617601",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617601",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B6L0-1",
            "uniprot_ac": "A0ACD6B6L0",
            "uniprot_id": "A0ACD6B6L0_DANRE",
            "refseq_ac": "XP_697081",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnq5b",
                    "type": "recommended"
                },
                {
                    "name": "kcnq5b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B6L0-1",
            "evidence": [
                {
                    "id": "0080237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58H4V5-1",
            "uniprot_ac": "A0AC58H4V5",
            "uniprot_id": "A0AC58H4V5_DANRE",
            "refseq_ac": "XP_073777019",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnq5a",
                    "type": "recommended"
                },
                {
                    "name": "kcnq5a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H4V5-1",
            "evidence": [
                {
                    "id": "0080237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK45-1",
            "uniprot_ac": "Q9JK45",
            "uniprot_id": "KCNQ5_MOUSE",
            "refseq_ac": "NP_076361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 5",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 5",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT5",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.5",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel type Kv7.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq5",
                    "type": "recommended"
                },
                {
                    "name": "7730402H11",
                    "type": "synonym"
                },
                {
                    "name": "9230107O05Rik",
                    "type": "synonym"
                },
                {
                    "name": "D1Mgi1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnq5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK45-1",
            "evidence": [
                {
                    "id": "0080237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NR82-1",
            "uniprot_ac": "Q9NR82",
            "uniprot_id": "KCNQ5_HUMAN",
            "refseq_ac": "NP_001153602",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 5",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 5",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT5",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.5",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel protein",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT5",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated KQT-like subfamily Q, member 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNQ5",
                    "type": "recommended"
                },
                {
                    "name": "KCNQ5",
                    "type": "synonym"
                },
                {
                    "name": "Kv7.5",
                    "type": "synonym"
                },
                {
                    "name": "MRD46",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NR82-1",
            "evidence": [
                {
                    "id": "617601",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617601"
                },
                {
                    "id": "0080237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZXW9-1",
            "uniprot_ac": "A0A8I5ZXW9",
            "uniprot_id": "A0A8I5ZXW9_RAT",
            "refseq_ac": "XP_038939022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily Q member 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq5",
                    "type": "recommended"
                },
                {
                    "name": "Kcnq5l",
                    "type": "synonym"
                },
                {
                    "name": "Kcnq5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZXW9-1",
            "evidence": [
                {
                    "id": "0080237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080237"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z856-1",
            "uniprot_ac": "A1Z856",
            "uniprot_id": "A1Z856_DROME",
            "refseq_ac": "NP_788300",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33135-PF",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ potassium channel, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ-PF",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ-type K[+] channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNQ",
                    "type": "recommended"
                },
                {
                    "name": "CG12215",
                    "type": "synonym"
                },
                {
                    "name": "CG12915",
                    "type": "synonym"
                },
                {
                    "name": "CG33135",
                    "type": "synonym"
                },
                {
                    "name": "DKCNQ",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33135",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33135",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ1",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ",
                    "type": "synonym"
                },
                {
                    "name": "KQT 1",
                    "type": "synonym"
                },
                {
                    "name": "KQT",
                    "type": "synonym"
                },
                {
                    "name": "dKCNQ",
                    "type": "synonym"
                },
                {
                    "name": "kcnq1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z856-1",
            "evidence": [
                {
                    "id": "0080237",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080237"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080237"
}