{
    "disease_id": "DOID:0061249",
    "recommended_name": {
        "id": "DOID:0061249",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061249",
        "name": "familial hyperaldosteronism II",
        "description": "A familial hyperaldosteronism characterized by hypertension due to increased aldosterone, often with hypokalemia that has_material_basis_in heterozygous mutation in the CLCN2 gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0011576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011576",
            "name": "familial hyperaldosteronism type II",
            "description": "Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism."
        },
        {
            "id": "MONDO:0011576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011576",
            "name": "FH-II",
            "description": ""
        },
        {
            "id": "MONDO:0011576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011576",
            "name": "FH2",
            "description": ""
        },
        {
            "id": "MONDO:0011576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011576",
            "name": "familial adrenal adenoma",
            "description": ""
        },
        {
            "id": "MONDO:0011576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011576",
            "name": "familial hyperaldosteronism type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011576",
            "name": "FHII",
            "description": ""
        },
        {
            "id": "MONDO:0011576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011576",
            "name": "HALD2",
            "description": ""
        },
        {
            "id": "MIM:605635",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605635",
            "name": "Hyperaldosteronism, familial, 2",
            "description": "Hyperaldosteronism, familial, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061249"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061249",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061249",
            "categories": []
        },
        {
            "id": "MONDO:0011576",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011576",
            "categories": []
        },
        {
            "id": "MIM:605635",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605635",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P51788-1",
            "uniprot_ac": "P51788",
            "uniprot_id": "CLCN2_HUMAN",
            "refseq_ac": "NP_001164558",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ClC-2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN2",
                    "type": "recommended"
                },
                {
                    "name": "CIC-2",
                    "type": "synonym"
                },
                {
                    "name": "CLC2",
                    "type": "synonym"
                },
                {
                    "name": "CLCN2",
                    "type": "synonym"
                },
                {
                    "name": "ECA2",
                    "type": "synonym"
                },
                {
                    "name": "ECA3",
                    "type": "synonym"
                },
                {
                    "name": "EGI11",
                    "type": "synonym"
                },
                {
                    "name": "EGI3",
                    "type": "synonym"
                },
                {
                    "name": "EGMA",
                    "type": "synonym"
                },
                {
                    "name": "EJM6",
                    "type": "synonym"
                },
                {
                    "name": "EJM8",
                    "type": "synonym"
                },
                {
                    "name": "FHA2",
                    "type": "synonym"
                },
                {
                    "name": "FHII",
                    "type": "synonym"
                },
                {
                    "name": "HALD2",
                    "type": "synonym"
                },
                {
                    "name": "LKPAT",
                    "type": "synonym"
                },
                {
                    "name": "clC-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51788-1",
            "evidence": [
                {
                    "id": "605635",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605635"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061249"
}