{
    "disease_id": "DOID:0060551",
    "recommended_name": {
        "id": "DOID:0060551",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060551",
        "name": "poikiloderma with neutropenia",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060551",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060551",
            "name": "poikiloderma with neutropenia, Clericuzio type",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "poikiloderma with neutropenia",
            "description": "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13."
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "Prurigo Nodularis",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "poikiloderma with neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "poikiloderma with neutropenia, Clericuzio type",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "Clericuzio type poikiloderma with neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "PN",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "poikiloderma with neutropenia Clericuzio type",
            "description": ""
        },
        {
            "id": "MIM:604173",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604173",
            "name": "Poikiloderma with neutropenia",
            "description": "Poikiloderma with neutropenia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060551"
    ],
    "unlinked_id_list": []
}