{
    "disease_id": "DOID:0060854",
    "recommended_name": {
        "id": "DOID:0060854",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060854",
        "name": "autosomal recessive pseudohypoaldosteronism type 1",
        "description": "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G."
    },
    "synonyms": [
        {
            "id": "DOID:0060854",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060854",
            "name": "PHA1B",
            "description": ""
        },
        {
            "id": "DOID:0060854",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060854",
            "name": "autosomal recessive PHA 1",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "pseudohypoaldosteronism, type IB1, autosomal recessive",
            "description": "Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs."
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "PHA1B",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "autosomal recessive PHA 1",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "autosomal recessive pseudohypoaldosteronism type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "generalised PHA1",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "generalised pseudohypoaldosteronism type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "generalized PHA1",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "generalized pseudohypoaldosteronism type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "PHA I, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "pseudohypoaldosteronism type 1 autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "pseudohypoaldosteronism type 1, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "name": "pseudohypoaldosteronism, type I, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:264350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/264350",
            "name": "Pseudohypoaldosteronism 1B1, autosomal recessive",
            "description": "Pseudohypoaldosteronism 1B1, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060854"
    ],
    "unlinked_id_list": []
}