{
    "disease_id": "DOID:0050474", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009735", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009735", 
            "name": "CoMl-Netherton syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009735", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009735", 
            "name": "ComC(l-Netherton syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009735", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009735", 
            "name": "Netherton disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009735", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009735", 
            "name": "Netherton syndrome; neth"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009735", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009735", 
            "name": "neth"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009735", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009735", 
            "name": "Ns"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009735", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009735", 
            "name": "bamboo hair syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009735", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009735", 
            "name": "Comel-Netherton syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009735", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009735", 
            "name": "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050474", 
        "description": "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050474", 
        "name": "Netherton syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050474#disease-associations", 
            "id": "0050474", 
            "database": "Alliance of Genome Resources"
        }
    ]
}