{
    "disease_id": "DOID:0061250",
    "recommended_name": {
        "id": "DOID:0061250",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061250",
        "name": "familial hyperaldosteronism IV",
        "description": "A familial hyperaldosteronism that has_material_basis_in heterozygous mutation in the CACNA1H gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014875",
            "name": "hyperaldosteronism, familial, type IV",
            "description": ""
        },
        {
            "id": "MONDO:0014875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014875",
            "name": "HALD4",
            "description": ""
        },
        {
            "id": "MONDO:0014875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014875",
            "name": "familial hyperaldosteronism type IV",
            "description": ""
        },
        {
            "id": "MONDO:0014875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014875",
            "name": "hyperaldosteronism, familial, type IV",
            "description": ""
        },
        {
            "id": "MONDO:0014875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014875",
            "name": "hyperaldosteronism, familial, type IV; HALD4",
            "description": ""
        },
        {
            "id": "MIM:617027",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617027",
            "name": "Hyperaldosteronism, familial, 4",
            "description": "Hyperaldosteronism, familial, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061250"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061250",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061250",
            "categories": []
        },
        {
            "id": "MONDO:0014875",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014875",
            "categories": []
        },
        {
            "id": "MIM:617027",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617027",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O95180-1",
            "uniprot_ac": "O95180",
            "uniprot_id": "CAC1H_HUMAN",
            "refseq_ac": "NP_001005407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent T-type calcium channel subunit alpha-1H",
                    "type": "recommended"
                },
                {
                    "name": "Low-voltage-activated calcium channel alpha1 3.2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav3.2",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, T type, alpha 1H subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, T type, alpha 1Hb subunit",
                    "type": "synonym"
                },
                {
                    "name": "low-voltage-activated calcium channel alpha1 3.2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "low-voltage-activated calcium channel alpha13.2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage dependent t-type calcium channel alpha-1H subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent T-type calcium channel subunit alpha-1H isoform b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent T-type calcium channel subunit alpha-1H",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel alpha subunit Cav3.2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel alpha subunit CavT.2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha Cav3.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA1H",
                    "type": "recommended"
                },
                {
                    "name": "CACNA1HB",
                    "type": "synonym"
                },
                {
                    "name": "CACNA1H",
                    "type": "synonym"
                },
                {
                    "name": "Cav3.2",
                    "type": "synonym"
                },
                {
                    "name": "ECA6",
                    "type": "synonym"
                },
                {
                    "name": "EIG6",
                    "type": "synonym"
                },
                {
                    "name": "HALD4",
                    "type": "synonym"
                }
            ],
            "record_id": "O95180-1",
            "evidence": [
                {
                    "id": "617027",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617027"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061250"
}