{
    "disease_id": "DOID:0061248",
    "recommended_name": {
        "id": "DOID:0061248",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061248",
        "name": "familial hyperaldosteronism III",
        "description": "A familial hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production that has_material_basis_in heterozygous mutation in the KCNJ5 gene on chromosome 11q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0013359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013359",
            "name": "familial hyperaldosteronism type III",
            "description": "Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia."
        },
        {
            "id": "MONDO:0013359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013359",
            "name": "FH-III",
            "description": ""
        },
        {
            "id": "MONDO:0013359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013359",
            "name": "FH3",
            "description": ""
        },
        {
            "id": "MONDO:0013359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013359",
            "name": "familial hyperaldosteronism type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013359",
            "name": "FH III",
            "description": ""
        },
        {
            "id": "MONDO:0013359",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013359",
            "name": "HALD3",
            "description": ""
        },
        {
            "id": "MIM:613677",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613677",
            "name": "Hyperaldosteronism, familial, 3",
            "description": "Hyperaldosteronism, familial, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061248"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061248",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061248",
            "categories": []
        },
        {
            "id": "MONDO:0013359",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013359",
            "categories": []
        },
        {
            "id": "MIM:613677",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613677",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P48544-1",
            "uniprot_ac": "P48544",
            "uniprot_id": "KCNJ5_HUMAN",
            "refseq_ac": "NP_000881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-activated inward rectifier potassium channel 4",
                    "type": "recommended"
                },
                {
                    "name": "CIR",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac inward rectifier",
                    "type": "synonym"
                },
                {
                    "name": "G protein-activated inward rectifier potassium channel 4",
                    "type": "synonym"
                },
                {
                    "name": "GIRK-4",
                    "type": "synonym"
                },
                {
                    "name": "Heart KATP channel",
                    "type": "synonym"
                },
                {
                    "name": "IRK-4",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir3.4",
                    "type": "synonym"
                },
                {
                    "name": "KATP-1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 5",
                    "type": "synonym"
                },
                {
                    "name": "cardiac ATP-sensitive potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "heart KATP channel",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K+ channel KIR3.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J, member 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNJ5",
                    "type": "recommended"
                },
                {
                    "name": "CIR",
                    "type": "synonym"
                },
                {
                    "name": "GIRK4",
                    "type": "synonym"
                },
                {
                    "name": "KATP1",
                    "type": "synonym"
                },
                {
                    "name": "KCNJ5",
                    "type": "synonym"
                },
                {
                    "name": "KIR3.4",
                    "type": "synonym"
                },
                {
                    "name": "LQT13",
                    "type": "synonym"
                }
            ],
            "record_id": "P48544-1",
            "evidence": [
                {
                    "id": "613677",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613677"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061248"
}