{
    "disease_id": "DOID:0070717",
    "recommended_name": {
        "id": "DOID:0070717",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070717",
        "name": "developmental delay with sleep apnea",
        "description": "An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties that has_material_basis_in heterozygous mutation in the KCNK3 gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0070717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070717",
            "name": "DDSA",
            "description": ""
        },
        {
            "id": "MONDO:0980728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980728",
            "name": "developmental delay with sleep apnea",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070717"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070717",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070717",
            "categories": []
        },
        {
            "id": "MONDO:0980728",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980728",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O14649-1",
            "uniprot_ac": "O14649",
            "uniprot_id": "KCNK3_HUMAN",
            "refseq_ac": "NP_002237",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "Acid-sensitive potassium channel protein TASK-1",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K(+) channel 1",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K+ 1",
                    "type": "synonym"
                },
                {
                    "name": "TWIK-related acid-sensitive K+ channel",
                    "type": "synonym"
                },
                {
                    "name": "Two pore K(+) channel KT3.1",
                    "type": "synonym"
                },
                {
                    "name": "Two pore potassium channel KT3.1",
                    "type": "synonym"
                },
                {
                    "name": "acid-sensitive potassium channel protein TASK-1",
                    "type": "synonym"
                },
                {
                    "name": "acid-sensitive potassium channel protein TASK",
                    "type": "synonym"
                },
                {
                    "name": "cardiac potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily K member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, two pore domain subfamily K, member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium inwardly-rectifying channel, subfamily K, member 3",
                    "type": "synonym"
                },
                {
                    "name": "two P domain potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "two pore K(+) channel KT3.1",
                    "type": "synonym"
                },
                {
                    "name": "two pore potassium channel KT3.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNK3",
                    "type": "recommended"
                },
                {
                    "name": "DDSA",
                    "type": "synonym"
                },
                {
                    "name": "K2p3.1",
                    "type": "synonym"
                },
                {
                    "name": "KCNK3",
                    "type": "synonym"
                },
                {
                    "name": "OAT1",
                    "type": "synonym"
                },
                {
                    "name": "PPH4",
                    "type": "synonym"
                },
                {
                    "name": "TASK-1",
                    "type": "synonym"
                },
                {
                    "name": "TASK1",
                    "type": "synonym"
                },
                {
                    "name": "TASK",
                    "type": "synonym"
                },
                {
                    "name": "TBAK1",
                    "type": "synonym"
                }
            ],
            "record_id": "O14649-1",
            "evidence": [
                {
                    "id": "621402",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621402"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070717"
}