{
    "disease_id": "DOID:0090128",
    "recommended_name": {
        "id": "DOID:0090128",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090128",
        "name": "Carvajal syndrome",
        "description": "A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24."
    },
    "synonyms": [
        {
            "id": "DOID:0090128",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090128",
            "name": "DCWHK",
            "description": ""
        },
        {
            "id": "DOID:0090128",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090128",
            "name": "dilated cardiomyopathy with woolly hair and keratoderma",
            "description": ""
        },
        {
            "id": "DOID:0090128",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090128",
            "name": "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "arrhythmogenic cardiomyopathy with wooly hair and keratoderma",
            "description": "A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features."
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "Carvajal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "DCWHK",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "KWWH type II",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "arrhythmogenic cardiomyopathy with wooly hair and keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "dilated cardiomyopathy with woolly hair and keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "dilated cardiomyopathy with wooly hair and keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "keratoderma with woolly hair type II",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "keratoderma with wooly hair type II",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "cardiomyopathy dilated with woolly hair and keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "cardiomyopathy dilated with wooly hair and keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "cardiomyopathy, dilated, with woolly hair and keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "cardiomyopathy, dilated, with wooly hair and keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011581",
            "name": "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome",
            "description": ""
        },
        {
            "id": "MIM:605676",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605676",
            "name": "Cardiomyopathy, dilated, with woolly hair and keratoderma",
            "description": "Cardiomyopathy, dilated, with woolly hair and keratoderma"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090128"
    ],
    "unlinked_id_list": []
}