{
    "disease_id": "DOID:0050449",
    "recommended_name": {
        "id": "DOID:0050449",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050449",
        "name": "pachyonychia congenita",
        "description": "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin."
    },
    "synonyms": [
        {
            "id": "DOID:0050449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050449",
            "name": "Jackson-Lawler Type Pachyonychia Congenita",
            "description": ""
        },
        {
            "id": "DOID:0050449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050449",
            "name": "Jadassohn-Lewandowsky Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050449",
            "name": "PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE",
            "description": ""
        },
        {
            "id": "DOID:0050449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050449",
            "name": "Pachyonychia Congenita Type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita 1",
            "description": "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene."
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "KRT16 pachyonychia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita 1",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita caused by mutation in KRT16",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "Jadassohn-Lewandowsky syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "PC1",
            "description": ""
        },
        {
            "id": "MONDO:0008173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008173",
            "name": "pachyonychia congenita, Jadassohn-Lewandowsky type",
            "description": ""
        },
        {
            "id": "MIM:167200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/167200",
            "name": "Pachyonychia congenita 1",
            "description": "Pachyonychia congenita 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050449"
    ],
    "unlinked_id_list": []
}