{
    "disease_id": "DOID:0050474",
    "recommended_name": {
        "id": "DOID:0050474",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050474",
        "name": "Netherton syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Netherton syndrome",
            "description": "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations."
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "CoMl-Netherton syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "ComC(l-Netherton syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Netherton disease",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Netherton syndrome; neth",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Netherton syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "neth",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Ns",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "NS",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "bamboo hair syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "Comel-Netherton syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009735",
            "name": "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE",
            "description": ""
        },
        {
            "id": "MIM:256500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256500",
            "name": "Netherton syndrome",
            "description": "Netherton syndrome"
        }
    ]
}