{
    "disease_id": "DOID:0060855",
    "recommended_name": {
        "id": "DOID:0060855",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060855",
        "name": "autosomal dominant pseudohypoaldosteronism type 1",
        "description": "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31."
    },
    "synonyms": [
        {
            "id": "DOID:0060855",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060855",
            "name": "PHA1A",
            "description": ""
        },
        {
            "id": "DOID:0060855",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060855",
            "name": "autosomal dominant PHA 1",
            "description": ""
        },
        {
            "id": "MONDO:0008329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "name": "autosomal dominant pseudohypoaldosteronism type 1",
            "description": "Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney."
        },
        {
            "id": "MONDO:0008329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "name": "PHA1A",
            "description": ""
        },
        {
            "id": "MONDO:0008329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "name": "autosomal dominant pseudohypoaldosteronism type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "name": "pseudohypoaldosteronism type i, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "name": "pseudohypoaldosteronism type 1 autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "name": "pseudohypoaldosteronism type 1, dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "name": "pseudohypoaldosteronism, type I, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "name": "renal PHA1",
            "description": ""
        },
        {
            "id": "MONDO:0008329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "name": "renal pseudohypoaldosteronism type 1",
            "description": ""
        },
        {
            "id": "MIM:177735",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/177735",
            "name": "Pseudohypoaldosteronism 1, autosomal dominant",
            "description": "Pseudohypoaldosteronism 1, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060855"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060855",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060855",
            "categories": []
        },
        {
            "id": "MONDO:0008329",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008329",
            "categories": []
        },
        {
            "id": "MIM:177735",
            "database": "MIM",
            "url": "https://www.omim.org/entry/177735",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8VII8-1",
            "uniprot_ac": "Q8VII8",
            "uniprot_id": "MCR_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mineralocorticoid receptor",
                    "type": "recommended"
                },
                {
                    "name": "MR",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group C member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr3c2",
                    "type": "recommended"
                },
                {
                    "name": "Mlr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VII8-1",
            "evidence": [
                {
                    "id": "0060855",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060855"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08235-1",
            "uniprot_ac": "P08235",
            "uniprot_id": "MCR_HUMAN",
            "refseq_ac": "NP_000892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mineralocorticoid receptor",
                    "type": "recommended"
                },
                {
                    "name": "MR",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group C member 2",
                    "type": "synonym"
                },
                {
                    "name": "aldosterone receptor",
                    "type": "synonym"
                },
                {
                    "name": "mineralocorticoid receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "mineralocorticoid receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "mineralocorticoid receptor delta",
                    "type": "synonym"
                },
                {
                    "name": "mineralocorticoid receptor isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NR3C2",
                    "type": "recommended"
                },
                {
                    "name": "MCR",
                    "type": "synonym"
                },
                {
                    "name": "MLR",
                    "type": "synonym"
                },
                {
                    "name": "MR",
                    "type": "synonym"
                },
                {
                    "name": "NR3C2VIT",
                    "type": "synonym"
                },
                {
                    "name": "NR3C2",
                    "type": "synonym"
                }
            ],
            "record_id": "P08235-1",
            "evidence": [
                {
                    "id": "177735",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/177735"
                },
                {
                    "id": "0060855",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060855"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22199-1",
            "uniprot_ac": "P22199",
            "uniprot_id": "MCR_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mineralocorticoid receptor",
                    "type": "recommended"
                },
                {
                    "name": "MR",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group C member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr3c2",
                    "type": "recommended"
                },
                {
                    "name": "Mlr",
                    "type": "synonym"
                }
            ],
            "record_id": "P22199-1",
            "evidence": [
                {
                    "id": "0060855",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060855"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43781-1",
            "uniprot_ac": "O43781",
            "uniprot_id": "DYRK3_HUMAN",
            "refseq_ac": "NP_001004023",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity tyrosine-phosphorylation-regulated kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.1",
                    "type": "synonym"
                },
                {
                    "name": "REDK",
                    "type": "synonym"
                },
                {
                    "name": "Regulatory erythroid kinase",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-(Y)-phosphorylation regulated kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity tyrosine-phosphorylation-regulated kinase 3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase Dyrk3",
                    "type": "synonym"
                },
                {
                    "name": "regulatory erythroid kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYRK3",
                    "type": "recommended"
                },
                {
                    "name": "DYRK3",
                    "type": "synonym"
                },
                {
                    "name": "DYRK5",
                    "type": "synonym"
                },
                {
                    "name": "REDK",
                    "type": "synonym"
                },
                {
                    "name": "RED",
                    "type": "synonym"
                },
                {
                    "name": "hYAK3-2",
                    "type": "synonym"
                }
            ],
            "record_id": "O43781-1",
            "evidence": [
                {
                    "id": "0060855",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060855"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060855"
}