{
    "disease_id": "DOID:0111244",
    "recommended_name": {
        "id": "DOID:0111244",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111244",
        "name": "palmoplantar keratoderma and congenital alopecia 1",
        "description": "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "PPK-CA, Stevanovic type",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "PPKCA Stevanovic type",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "PPKCA1",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "autosomal dominant palmoplantar keratoderma and congenital alopecia",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "palmoplantar keratoderma and congenital alopecia, Stevanovic type",
            "description": ""
        },
        {
            "id": "DOID:0111244",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111244",
            "name": "keratoderma-hypotrichosis-leukonychia totalis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "autosomal dominant palmoplantar keratoderma and congenital alopecia",
            "description": "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications."
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "PPK-CA, Stevanovic type",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "palmoplantar keratoderma and congenital alopecia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "palmoplantar keratoderma and congenital alopecia, Stevanovic type",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "palmoplantar keratoderma with congenital alopecia",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "PPKCA1",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "alopecia congenita with hyperkeratosis of the palms and soles",
            "description": ""
        },
        {
            "id": "MONDO:0007083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007083",
            "name": "palmoplantar keratoderma and congenital alopecia 1",
            "description": ""
        },
        {
            "id": "MIM:104100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/104100",
            "name": "Palmoplantar keratoderma and congenital alopecia 1",
            "description": "Palmoplantar keratoderma and congenital alopecia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111244"
    ],
    "unlinked_id_list": []
}