{
    "disease_id": "DOID:0070740",
    "recommended_name": {
        "id": "DOID:0070740",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070740",
        "name": "cerebellar atrophy, developmental delay, and seizures",
        "description": "An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy, seizures, and severe developmental delay, including the inability to walk and speech limited to a few words only, that has_material_basis_in homozygous mutation in the KCNMA1 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070740",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070740",
            "name": "CADEDS",
            "description": ""
        },
        {
            "id": "MONDO:0060551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060551",
            "name": "cerebellar atrophy, developmental delay, and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0060551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060551",
            "name": "cerebellar atrophy, developmental delay, and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0060551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060551",
            "name": "CADEDS",
            "description": ""
        },
        {
            "id": "MIM:617643",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617643",
            "name": "Cerebellar atrophy, developmental delay, and seizures",
            "description": "Cerebellar atrophy, developmental delay, and seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070740"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070740",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070740",
            "categories": []
        },
        {
            "id": "MONDO:0060551",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060551",
            "categories": []
        },
        {
            "id": "MIM:617643",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617643",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q12791-1",
            "uniprot_ac": "Q12791",
            "uniprot_id": "KCMA1_HUMAN",
            "refseq_ac": "NP_001014797",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-activated potassium channel subunit alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "BK channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "BK channel",
                    "type": "synonym"
                },
                {
                    "name": "BKCA alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "BKCA alpha",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-activated potassium channel subunit alpha-1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-activated potassium channel, subfamily M subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "K(VCA)alpha",
                    "type": "synonym"
                },
                {
                    "name": "KCa1.1",
                    "type": "synonym"
                },
                {
                    "name": "Maxi K channel",
                    "type": "synonym"
                },
                {
                    "name": "MaxiK",
                    "type": "synonym"
                },
                {
                    "name": "Slo homolog",
                    "type": "synonym"
                },
                {
                    "name": "Slo-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Slo1",
                    "type": "synonym"
                },
                {
                    "name": "Slowpoke homolog",
                    "type": "synonym"
                },
                {
                    "name": "big potassium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated potassium channel, subfamily M subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "hSlo",
                    "type": "synonym"
                },
                {
                    "name": "k(VCA)alpha",
                    "type": "synonym"
                },
                {
                    "name": "maxi-K channel HSLO",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, calcium activated large conductance subfamily M alpha, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium large conductance calcium-activated channel, subfamily M, alpha member 1",
                    "type": "synonym"
                },
                {
                    "name": "slo homolog",
                    "type": "synonym"
                },
                {
                    "name": "slowpoke homolog",
                    "type": "synonym"
                },
                {
                    "name": "stretch-activated Kca channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNMA1",
                    "type": "recommended"
                },
                {
                    "name": "BKTM",
                    "type": "synonym"
                },
                {
                    "name": "CADEDS",
                    "type": "synonym"
                },
                {
                    "name": "IEG16",
                    "type": "synonym"
                },
                {
                    "name": "KCNMA1",
                    "type": "synonym"
                },
                {
                    "name": "KCNMA",
                    "type": "synonym"
                },
                {
                    "name": "KCa1.1",
                    "type": "synonym"
                },
                {
                    "name": "LIWAS",
                    "type": "synonym"
                },
                {
                    "name": "MaxiK",
                    "type": "synonym"
                },
                {
                    "name": "PNKD3",
                    "type": "synonym"
                },
                {
                    "name": "SAKCA",
                    "type": "synonym"
                },
                {
                    "name": "SLO-ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "SLO1",
                    "type": "synonym"
                },
                {
                    "name": "SLO",
                    "type": "synonym"
                },
                {
                    "name": "bA205K10.1",
                    "type": "synonym"
                },
                {
                    "name": "hSlo",
                    "type": "synonym"
                },
                {
                    "name": "mSLO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12791-1",
            "evidence": [
                {
                    "id": "617643",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617643"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070740"
}