{
    "disease_id": "DOID:0050675",
    "recommended_name": {
        "id": "DOID:0050675",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050675",
        "name": "Birk-Barel syndrome",
        "description": "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0050675",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050675",
            "name": "Birk-Barel mental retardation dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "Birk-Barel syndrome",
            "description": "Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)."
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "BIRK-Barel intellectual disability dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "BIRK-Barel mental retardation dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "Birk-Barel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "KCNK9 Imprinting Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "intellectual disability-hypotonia-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "Birk Barel intellectual disability dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "Birk Barel mental retardation dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "name": "mental retardation with hypotonia and Facial Dysmorphism",
            "description": ""
        },
        {
            "id": "MIM:612292",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612292",
            "name": "Birk-Barel syndrome",
            "description": "Birk-Barel syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050675"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050675",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050675",
            "categories": []
        },
        {
            "id": "MONDO:0012856",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012856",
            "categories": []
        },
        {
            "id": "MIM:612292",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612292",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NHJ6-1",
            "uniprot_ac": "A0A8M1NHJ6",
            "uniprot_id": "A0A8M1NHJ6_DANRE",
            "refseq_ac": "NP_001122021",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily K member 9",
                    "type": "recommended"
                },
                {
                    "name": "potassium channel subfamily K member 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnk9",
                    "type": "recommended"
                },
                {
                    "name": "kcnk9",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-268f14.1",
                    "type": "synonym"
                },
                {
                    "name": "si:ct583670.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NHJ6-1",
            "evidence": [
                {
                    "id": "0050675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3LS21-1",
            "uniprot_ac": "Q3LS21",
            "uniprot_id": "KCNK9_MOUSE",
            "refseq_ac": "NP_001029048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily K member 9",
                    "type": "recommended"
                },
                {
                    "name": "Acid-sensitive potassium channel protein TASK-3",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K(+) channel 3",
                    "type": "synonym"
                },
                {
                    "name": "acid-sensitive potassium channel protein TASK-3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily K member 9 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnk9",
                    "type": "recommended"
                },
                {
                    "name": "A930009L07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kcnk9",
                    "type": "synonym"
                },
                {
                    "name": "Task3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3LS21-1",
            "evidence": [
                {
                    "id": "0050675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPC2-1",
            "uniprot_ac": "Q9NPC2",
            "uniprot_id": "KCNK9_HUMAN",
            "refseq_ac": "NP_001269463",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily K member 9",
                    "type": "recommended"
                },
                {
                    "name": "Acid-sensitive potassium channel protein TASK-3",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K(+) channel 3",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K+ 3",
                    "type": "synonym"
                },
                {
                    "name": "Two pore K(+) channel KT3.2",
                    "type": "synonym"
                },
                {
                    "name": "Two pore potassium channel KT3.2",
                    "type": "synonym"
                },
                {
                    "name": "acid-sensitive potassium channel protein TASK-3",
                    "type": "synonym"
                },
                {
                    "name": "potassium 2-pore domain leak channel TASK3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily K member 9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, two pore domain subfamily K, member 9",
                    "type": "synonym"
                },
                {
                    "name": "two pore K(+) channel KT3.2",
                    "type": "synonym"
                },
                {
                    "name": "two pore potassium channel KT3.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNK9",
                    "type": "recommended"
                },
                {
                    "name": "BIBARS",
                    "type": "synonym"
                },
                {
                    "name": "K2p9.1",
                    "type": "synonym"
                },
                {
                    "name": "KCNK9",
                    "type": "synonym"
                },
                {
                    "name": "KT3.2",
                    "type": "synonym"
                },
                {
                    "name": "TASK-3",
                    "type": "synonym"
                },
                {
                    "name": "TASK32",
                    "type": "synonym"
                },
                {
                    "name": "TASK3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPC2-1",
            "evidence": [
                {
                    "id": "612292",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612292"
                },
                {
                    "id": "0050675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40310-1",
            "uniprot_ac": "P40310",
            "uniprot_id": "TOK1_YEAST",
            "refseq_ac": "NP_012442",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outward-rectifier potassium channel TOK1",
                    "type": "recommended"
                },
                {
                    "name": "Tok1p",
                    "type": "synonym"
                },
                {
                    "name": "Two-domain outward rectifier K(+) channel YORK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOK1",
                    "type": "recommended"
                },
                {
                    "name": "DUK1",
                    "type": "synonym"
                },
                {
                    "name": "J0911",
                    "type": "synonym"
                },
                {
                    "name": "TOK1",
                    "type": "synonym"
                },
                {
                    "name": "YKC1",
                    "type": "synonym"
                },
                {
                    "name": "YPK1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40310-1",
            "evidence": [
                {
                    "id": "0050675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ES08-1",
            "uniprot_ac": "Q9ES08",
            "uniprot_id": "KCNK9_RAT",
            "refseq_ac": "NP_445857",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily K member 9",
                    "type": "recommended"
                },
                {
                    "name": "Acid-sensitive potassium channel protein TASK-3",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K(+) channel 3",
                    "type": "synonym"
                },
                {
                    "name": "Two pore K(+) channel KT3.2",
                    "type": "synonym"
                },
                {
                    "name": "Two pore potassium channel KT3.2",
                    "type": "synonym"
                },
                {
                    "name": "acid-sensitive potassium channel protein TASK-3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily K member 9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily K member 9",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, subfamily K, member 9 (Task-3)",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, two pore domain subfamily K, member 9",
                    "type": "synonym"
                },
                {
                    "name": "two pore K(+) channel KT3.2",
                    "type": "synonym"
                },
                {
                    "name": "two pore potassium channel KT3.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnk9",
                    "type": "recommended"
                },
                {
                    "name": "Kcnk9",
                    "type": "synonym"
                },
                {
                    "name": "Task-3",
                    "type": "synonym"
                },
                {
                    "name": "Task3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ES08-1",
            "evidence": [
                {
                    "id": "0050675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHE0-1",
            "uniprot_ac": "Q9VHE0",
            "uniprot_id": "Q9VHE0_DROME",
            "refseq_ac": "NP_649891",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9361-PA",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K[+] channel 7",
                    "type": "synonym"
                },
                {
                    "name": "Task7-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Task7",
                    "type": "recommended"
                },
                {
                    "name": "CG9361",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9361",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9361",
                    "type": "synonym"
                },
                {
                    "name": "K2P-TASK7",
                    "type": "synonym"
                },
                {
                    "name": "TASK-7",
                    "type": "synonym"
                },
                {
                    "name": "Task7",
                    "type": "synonym"
                },
                {
                    "name": "dTASK-7",
                    "type": "synonym"
                },
                {
                    "name": "dmTASK7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHE0-1",
            "evidence": [
                {
                    "id": "0050675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050675"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFS9-1",
            "uniprot_ac": "Q9VFS9",
            "uniprot_id": "Q9VFS9_DROME",
            "refseq_ac": "NP_001262541",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9637-PF",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K[+] channel 6, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K[+] channel 6, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Task6-PF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Task6",
                    "type": "recommended"
                },
                {
                    "name": "CG9637",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9637",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9637",
                    "type": "synonym"
                },
                {
                    "name": "K2P-TASK6",
                    "type": "synonym"
                },
                {
                    "name": "TASK-6",
                    "type": "synonym"
                },
                {
                    "name": "TASK6",
                    "type": "synonym"
                },
                {
                    "name": "Task6",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.11",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.53",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.54",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.55",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.56",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.57",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.58",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.59",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0109301.60",
                    "type": "synonym"
                },
                {
                    "name": "dTASK-6",
                    "type": "synonym"
                },
                {
                    "name": "dmTASK6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFS9-1",
            "evidence": [
                {
                    "id": "0050675",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050675"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050675"
}