{
    "disease_id": "DOID:0050467",
    "recommended_name": {
        "id": "DOID:0050467",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050467",
        "name": "erythrokeratodermia variabilis",
        "description": "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis."
    },
    "synonyms": [
        {
            "id": "DOID:0050467",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050467",
            "name": "Erythrokeratodermia Figurata Variabilis",
            "description": ""
        },
        {
            "id": "DOID:0050467",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050467",
            "name": "Greither Disease",
            "description": ""
        },
        {
            "id": "MONDO:0033010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033010",
            "name": "erythrokeratodermia variabilis et progressiva 1",
            "description": ""
        },
        {
            "id": "MONDO:0033010",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033010",
            "name": "EKVP1",
            "description": ""
        },
        {
            "id": "MIM:133200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/133200",
            "name": "Erythrokeratodermia variabilis et progressiva 1",
            "description": "Erythrokeratodermia variabilis et progressiva 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080248",
            "label": "erythrokeratodermia variabilis et progressiva 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080249",
            "label": "erythrokeratodermia variabilis et progressiva 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080250",
            "label": "erythrokeratodermia variabilis et progressiva 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080251",
            "label": "erythrokeratodermia variabilis et progressiva 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080766",
            "label": "erythrokeratodermia variabilis et progressiva 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111195",
            "label": "erythrokeratodermia variabilis et progressiva 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080251",
        "DOID:0111195",
        "DOID:0080248",
        "DOID:0050467",
        "DOID:0080249",
        "DOID:0080766",
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    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050467",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050467",
            "categories": []
        },
        {
            "id": "MONDO:0033010",
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            "categories": []
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            "url": "https://www.omim.org/entry/133200",
            "categories": []
        }
    ],
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            "uniprot_ac": "E7FBZ4",
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                }
            ],
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                    "name": "Gap junction protein",
                    "type": "recommended"
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                    "name": "gap junction alpha-1 protein",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
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                }
            ],
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                }
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                }
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                },
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                    "type": "synonym"
                },
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                    "name": "Short fin protein",
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                    "name": "stopsel",
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                    "name": "stp",
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                {
                    "name": "fk24g11",
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                {
                    "name": "perp",
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                {
                    "name": "wu:fk24g11",
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                    "id": "0050467",
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            ]
        },
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                {
                    "name": "Mus musculus",
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                }
            ],
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                {
                    "name": "Gap junction beta-3 protein",
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                    "name": "Connexin-31",
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                {
                    "name": "Cx31",
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                    "name": "connexin-31",
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                    "name": "gap junction beta-3 protein",
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                    "name": "Cxnc",
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                    "name": "D4Wsu144e",
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                    "name": "Gjb-3",
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                    "id": "0050467",
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            ],
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                {
                    "name": "Gap junction 43 kDa heart protein",
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                    "name": "alpha 1 connexin",
                    "type": "synonym"
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                    "name": "connexin k1",
                    "type": "synonym"
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                    "name": "gap junction 43 kDa heart protein",
                    "type": "synonym"
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                    "name": "gap junction alpha-1 protein",
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                {
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                    "name": "Gja1",
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                    "name": "p53 apoptosis effector related to Pmp22",
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                    "name": "Krtcap1",
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                    "id": "0050467",
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                    "id": "0050467",
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                    "id": "0050467",
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                    "id": "0050467",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050467"
}