{
    "disease_id": "DOID:0060551", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011405", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011405", 
            "name": "poikiloderma with neutropenia, Clericuzio-type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011405", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011405", 
            "name": "poikiloderma with neutropenia; PN"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011405", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011405", 
            "name": "poikiloderma with neutropenia, Clericuzio type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011405", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011405", 
            "name": "Clericuzio type poikiloderma with neutropenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011405", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011405", 
            "name": "PN"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011405", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011405", 
            "name": "poikiloderma with neutropenia Clericuzio type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060551", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060551", 
            "name": "poikiloderma with neutropenia, Clericuzio type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060551", 
        "description": "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060551", 
        "name": "poikiloderma with neutropenia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060551#disease-associations", 
            "id": "0060551", 
            "database": "Alliance of Genome Resources"
        }
    ]
}