{
    "disease_id": "DOID:0050477",
    "recommended_name": {
        "id": "DOID:0050477",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050477",
        "name": "Liddle syndrome",
        "description": "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel."
    },
    "synonyms": [
        {
            "id": "DOID:0050477",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050477",
            "name": "Liddle's syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050477",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050477",
            "name": "Pseudoaldosteronism",
            "description": ""
        },
        {
            "id": "MONDO:0020607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020607",
            "name": "Liddle syndrome 1",
            "description": "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene."
        },
        {
            "id": "MONDO:0020607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020607",
            "name": "Liddle syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0020607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020607",
            "name": "Liddle syndrome caused by mutation in SCNN1B",
            "description": ""
        },
        {
            "id": "MONDO:0020607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020607",
            "name": "SCNN1B Liddle syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020607",
            "name": "LIDLS1",
            "description": ""
        },
        {
            "id": "MIM:177200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/177200",
            "name": "Liddle syndrome 1",
            "description": "Liddle syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050477"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050477",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050477",
            "categories": []
        },
        {
            "id": "MONDO:0020607",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020607",
            "categories": []
        },
        {
            "id": "MIM:177200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/177200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PD40-1",
            "uniprot_ac": "A0A8M9PD40",
            "uniprot_id": "A0A8M9PD40_DANRE",
            "refseq_ac": "XP_021324693",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "E3 ubiquitin-protein ligase NEDD4-like",
                    "type": "recommended"
                },
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                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase NEDD4-like isoform X1",
                    "type": "synonym"
                },
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                    "name": "HECT-type E3 ubiquitin transferase NED4L",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nedd4l",
                    "type": "recommended"
                },
                {
                    "name": "nedd4l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PD40-1",
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                    "id": "0050477",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QG29-1",
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            "uniprot_id": "A0A8M9QG29_DANRE",
            "refseq_ac": "XP_021336549",
            "glycoprotein": "no",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "HECT-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
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                    "name": "E3 ubiquitin-protein ligase HECW1 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "hecw1b",
                    "type": "recommended"
                },
                {
                    "name": "hecw1b",
                    "type": "synonym"
                },
                {
                    "name": "hecw1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-106n13.1",
                    "type": "synonym"
                }
            ],
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                    "id": "0050477",
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                }
            ]
        },
        {
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            "uniprot_id": "SCNNB_MOUSE",
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                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                {
                    "name": "Epithelial sodium channel subunit beta",
                    "type": "recommended"
                },
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                    "name": "Amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
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                    "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"
                },
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                    "type": "synonym"
                },
                {
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                    "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"
                }
            ],
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                {
                    "name": "Scnn1b",
                    "type": "recommended"
                },
                {
                    "name": "Scnn1b",
                    "type": "synonym"
                }
            ],
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                    "id": "0050477",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050477"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU39-1",
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            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "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"
                },
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                    "type": "synonym"
                },
                {
                    "name": "gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Scnn1g",
                    "type": "recommended"
                },
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                    "name": "SCNEG",
                    "type": "synonym"
                },
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                    "name": "Scnn1g",
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                    "id": "0050477",
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            ]
        },
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                {
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                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "Epithelial sodium channel subunit alpha",
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                    "name": "Alpha-ENaC",
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                },
                {
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                },
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                    "name": "Amiloride-sensitive sodium channel subunit alpha",
                    "type": "synonym"
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                    "type": "synonym"
                },
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                    "type": "synonym"
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                {
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                {
                    "name": "amiloride-sensitive epithelial sodium channel",
                    "type": "synonym"
                },
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                    "name": "amiloride-sensitive sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit alpha",
                    "type": "synonym"
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                {
                    "name": "epithelial sodium channel alpha subunit",
                    "type": "synonym"
                },
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                    "name": "nonvoltage-gated sodium channel 1 subunit alpha",
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                    "name": "Scnn1a",
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                }
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                {
                    "name": "E3 ubiquitin-protein ligase NEDD4-like isoform X4",
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            ],
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                    "name": "cell proliferation-inducing gene 53 protein",
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                    "name": "RPF1",
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                    "id": "0050477",
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            "uniprot_canonical_ac": "Q9H0M0-1",
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}