{
    "disease_id": "DOID:0112171", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010208", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010208", 
            "name": "wrinkly skin syndrome; WSS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010208", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010208", 
            "name": "wrinkled skin syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010208", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010208", 
            "name": "WSS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0112171", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0112171", 
            "name": "WSS"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0112171", 
        "description": "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in ATP6V0A2 on chromosome 12q24.31.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0112171", 
        "name": "wrinkly skin syndrome"
    }, 
    "evidence": [
        {
            "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ATP6V0A2/#!details", 
            "id": "ATP6V0A2", 
            "database": "Genomics England"
        }
    ]
}