{
    "disease_id": "DOID:0060854",
    "recommended_name": {
        "id": "DOID:0060854",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0060854",
            "name": "PHA1B",
            "description": ""
        },
        {
            "id": "DOID:0060854",
            "resource": "Disease Ontology",
            "url": "https://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": "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": [],
    "crossref": [
        {
            "id": "DOID:0060854",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060854",
            "categories": []
        },
        {
            "id": "MONDO:0009917",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009917",
            "categories": []
        },
        {
            "id": "MIM:264350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/264350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WU38-1",
            "uniprot_ac": "Q9WU38",
            "uniprot_id": "SCNNB_MOUSE",
            "refseq_ac": "NP_001258952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial sodium channel subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Beta-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "ENaC beta",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "SCNEB",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "beta-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnn1b",
                    "type": "recommended"
                },
                {
                    "name": "Scnn1b",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU39-1",
            "uniprot_ac": "Q9WU39",
            "uniprot_id": "SCNNG_MOUSE",
            "refseq_ac": "NP_035456",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial sodium channel subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "ENaC gamma",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "SCNEG",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnn1g",
                    "type": "recommended"
                },
                {
                    "name": "SCNEG",
                    "type": "synonym"
                },
                {
                    "name": "Scnn1g",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WU39-1",
            "evidence": [
                {
                    "id": "0060854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37088-1",
            "uniprot_ac": "P37088",
            "uniprot_id": "SCNNA_HUMAN",
            "refseq_ac": "NP_001029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial sodium channel subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ENaC subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ENaCA",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "SCNEA",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel epithelial 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha ENaC-2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "alpha-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive epithelial sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "nasal epithelial sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel epithelial 1 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non voltage gated 1 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non-voltage-gated 1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated 1 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCNN1A",
                    "type": "recommended"
                },
                {
                    "name": "BESC2",
                    "type": "synonym"
                },
                {
                    "name": "ENaCalpha",
                    "type": "synonym"
                },
                {
                    "name": "ENaCa",
                    "type": "synonym"
                },
                {
                    "name": "LIDLS3",
                    "type": "synonym"
                },
                {
                    "name": "PHA1B1",
                    "type": "synonym"
                },
                {
                    "name": "SCNEA",
                    "type": "synonym"
                },
                {
                    "name": "SCNN1A",
                    "type": "synonym"
                },
                {
                    "name": "SCNN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P37088-1",
            "evidence": [
                {
                    "id": "264350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/264350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37090-1",
            "uniprot_ac": "P37090",
            "uniprot_id": "SCNNB_RAT",
            "refseq_ac": "NP_036780",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Epithelial sodium channel subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Beta-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "SCNEB",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "beta-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel epithelial 1 beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non-voltage-gated 1, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated, type I, beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnn1b",
                    "type": "recommended"
                },
                {
                    "name": "RNENACB",
                    "type": "synonym"
                },
                {
                    "name": "Scnn1b",
                    "type": "synonym"
                }
            ],
            "record_id": "P37090-1",
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                {
                    "id": "0060854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37091-1",
            "uniprot_ac": "P37091",
            "uniprot_id": "SCNNG_RAT",
            "refseq_ac": "NP_058742",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial sodium channel subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "SCNEG",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel, nonvoltage-gated 1, gamma (epithelial)",
                    "type": "synonym"
                },
                {
                    "name": "amiloride sensitive sodium channel gamma1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "pithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel epithelial 1 gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non-voltage-gated 1, gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated, type I, gamma",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Scnn1g",
                    "type": "recommended"
                },
                {
                    "name": "ENaC",
                    "type": "synonym"
                },
                {
                    "name": "RCNaCh2",
                    "type": "synonym"
                },
                {
                    "name": "Scnn1g",
                    "type": "synonym"
                }
            ],
            "record_id": "P37091-1",
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                {
                    "id": "0060854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060854"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q8IMV2-1",
            "uniprot_ac": "Q8IMV2",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31105-PB",
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                },
                {
                    "name": "Pickpocket 22, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "pickpocket 22, isoform B",
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                {
                    "name": "ppk22-PB",
                    "type": "synonym"
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            ],
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                    "name": "ppk22",
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                    "name": "CG31105",
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                },
                {
                    "name": "Dmel\\CG31105",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31105",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0051105",
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                    "name": "ppk22",
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                    "id": "0060854",
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                }
            ]
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG32792-PH",
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                },
                {
                    "name": "Pickpocket 8, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "pickpocket 8, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "ppk8-PH",
                    "type": "synonym"
                }
            ],
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                    "name": "ppk8",
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                    "name": "CG32792",
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                    "name": "Dmel\\CG32792",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32792",
                    "type": "synonym"
                },
                {
                    "name": "Ppk8",
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                },
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                    "name": "ppk29",
                    "type": "synonym"
                },
                {
                    "name": "ppk8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KHW3-1",
            "evidence": [
                {
                    "id": "0060854",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060854"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W250-1",
            "uniprot_ac": "Q9W250",
            "uniprot_id": "Q9W250_DROME",
            "refseq_ac": "NP_611672",
            "glycoprotein": "no",
            "species": [
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                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
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                    "name": "CG10972-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pickpocket 12",
                    "type": "synonym"
                },
                {
                    "name": "pickpocket 12",
                    "type": "synonym"
                },
                {
                    "name": "ppk12-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppk12",
                    "type": "recommended"
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                {
                    "name": "CG10972",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10972",
                    "type": "synonym"
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                {
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060854"
}