{
    "disease_id": "DOID:0080661",
    "recommended_name": {
        "id": "DOID:0080661",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080661",
        "name": "nonsyndromic aplasia cutis congenita",
        "description": "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita",
            "description": "Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies."
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita recessive",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "ACC",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita nonsyndromic",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "aplasia cutis congenita, nonsyndromic",
            "description": ""
        },
        {
            "id": "MONDO:0007145",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007145",
            "name": "scalp defect congenital",
            "description": ""
        },
        {
            "id": "MIM:107600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/107600",
            "name": "Aplasia cutis congenita, non-syndromic",
            "description": "Aplasia cutis congenita, non-syndromic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080661"
    ],
    "unlinked_id_list": []
}