{
    "disease_id": "DOID:0111245",
    "recommended_name": {
        "id": "DOID:0111245",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111245",
        "name": "palmoplantar keratoderma and congenital alopecia 2",
        "description": "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation."
    },
    "synonyms": [
        {
            "id": "DOID:0111245",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111245",
            "name": "CASS",
            "description": ""
        },
        {
            "id": "DOID:0111245",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111245",
            "name": "PPK-CA, Wallis type",
            "description": ""
        },
        {
            "id": "DOID:0111245",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111245",
            "name": "PPKCA Wallis type",
            "description": ""
        },
        {
            "id": "DOID:0111245",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111245",
            "name": "PPKCA2",
            "description": ""
        },
        {
            "id": "DOID:0111245",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111245",
            "name": "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia",
            "description": ""
        },
        {
            "id": "DOID:0111245",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111245",
            "name": "cataract-alopecia-sclerodactyly syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111245",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111245",
            "name": "autosomal recessive palmoplantar keratoderma and congenital alopecia",
            "description": ""
        },
        {
            "id": "DOID:0111245",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111245",
            "name": "palmoplantar keratoderma and congenital alopecia, Wallis type",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "autosomal recessive palmoplantar keratoderma and congenital alopecia",
            "description": "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum."
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "PPK-CA, Wallis type",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "cataract-alopecia-sclerodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "palmoplantar keratoderma and congenital alopecia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "palmoplantar keratoderma and congenital alopecia, Wallis type",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "PPKCA2",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "Ppkca, Wallis type",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "cass",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "cataract, alopecia, sclerodactyly",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "cataract, alopecia, sclerodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008923",
            "name": "palmoplantar keratoderma and congenital alopecia 2",
            "description": ""
        }
    ]
}