{
    "disease_id": "DOID:0090067",
    "recommended_name": {
        "id": "DOID:0090067",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090067",
        "name": "Fuhrmann syndrome",
        "description": "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "Fuhrmann syndrome",
            "description": "Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly."
        },
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "Fuhrmann syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "Fuhrmann-Rieger-de Sousa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly",
            "description": ""
        },
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009232",
            "name": "bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies",
            "description": ""
        },
        {
            "id": "MIM:228930",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228930",
            "name": "Fuhrmann syndrome",
            "description": "Fuhrmann syndrome"
        }
    ]
}