{
    "disease_id": "DOID:0061247",
    "recommended_name": {
        "id": "DOID:0061247",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061247",
        "name": "familial hyperaldosteronism",
        "description": "A primary hyperaldosteronism characterized by florid clinical and biochemical phenotypes."
    },
    "synonyms": [
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "glucocorticoid-remediable aldosteronism",
            "description": "Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol."
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "FH-I",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "FH1",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "GRA",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "aldosteronism, glucocorticoid-remediable",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "dexamethasone-sensitive hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "familial hyperaldosteronism type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "glucocorticoid-remediable aldosteronism",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "glucocorticoid-sensitive hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "HALD1",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "dexamethasone sensitive hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "glucocorticoid sensitive hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007080",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "name": "hyperaldosteronism, familial type 1",
            "description": ""
        },
        {
            "id": "MIM:103900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/103900",
            "name": "Hyperaldosteronism, familial, 1",
            "description": "Hyperaldosteronism, familial, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061248",
            "label": "familial hyperaldosteronism III",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061249",
            "label": "familial hyperaldosteronism II",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061250",
            "label": "familial hyperaldosteronism IV",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0061247",
        "DOID:0061250",
        "DOID:0061248",
        "DOID:0061249"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061247",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061247",
            "categories": []
        },
        {
            "id": "MONDO:0007080",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007080",
            "categories": []
        },
        {
            "id": "MIM:103900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/103900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15538-1",
            "uniprot_ac": "P15538",
            "uniprot_id": "C11B1_HUMAN",
            "refseq_ac": "NP_000488",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 11B1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.15.4",
                    "type": "synonym"
                },
                {
                    "name": "CYP11B1",
                    "type": "synonym"
                },
                {
                    "name": "CYPXIB1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P-450c11",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450C11",
                    "type": "synonym"
                },
                {
                    "name": "Steroid 11-beta-hydroxylase, CYP11B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P-450c11",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 11B1, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 11B1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 11, subfamily B, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450C11",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome p450 XIB1",
                    "type": "synonym"
                },
                {
                    "name": "steroid 11-beta-hydroxylase, CYP11B1",
                    "type": "synonym"
                },
                {
                    "name": "steroid 11-beta-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP11B1",
                    "type": "recommended"
                },
                {
                    "name": "CPN1",
                    "type": "synonym"
                },
                {
                    "name": "CYP11B1",
                    "type": "synonym"
                },
                {
                    "name": "CYP11B",
                    "type": "synonym"
                },
                {
                    "name": "FHI",
                    "type": "synonym"
                },
                {
                    "name": "P450C11",
                    "type": "synonym"
                },
                {
                    "name": "S11BH",
                    "type": "synonym"
                }
            ],
            "record_id": "P15538-1",
            "evidence": [
                {
                    "id": "103900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/103900"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061247"
}