{
    "disease_id": "DOID:0111244", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "autosomal dominant palmoplantar keratoderma and congenital alopecia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "palmoplantar keratoderma and congenital alopecia, Stevanovic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "keratoderma-hypotrichosis-leukonychia totalis syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "alopecia congenita with hyperkeratosis of the palms and soles"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "palmoplantar keratoderma and congenital alopecia 1; PPKCA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "PPKCA1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "palmoplantar keratoderma and congenital alopecia type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "PPK-CA, Stevanovic type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007083", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007083", 
            "name": "Ppkca, Stevanovic type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111244", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111244", 
            "name": "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111244", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111244", 
            "name": "PPK-CA, Stevanovic type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111244", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111244", 
            "name": "PPKCA Stevanovic type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111244", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111244", 
            "name": "PPKCA1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111244", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111244", 
            "name": "autosomal dominant palmoplantar keratoderma and congenital alopecia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111244", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111244", 
            "name": "palmoplantar keratoderma and congenital alopecia, Stevanovic type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111244", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111244", 
            "name": "keratoderma-hypotrichosis-leukonychia totalis syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111244", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111244", 
        "name": "palmoplantar keratoderma and congenital alopecia 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111244#disease-associations", 
            "id": "0111244", 
            "database": "Alliance of Genome Resources"
        }
    ]
}