{
    "disease_id": "DOID:0080943",
    "recommended_name": {
        "id": "DOID:0080943",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080943",
        "name": "46,XX sex reversal 5",
        "description": "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0030049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030049",
            "name": "46,xx sex reversal 5",
            "description": ""
        },
        {
            "id": "MONDO:0030049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030049",
            "name": "46,XX SEX REVERSAL 5",
            "description": ""
        },
        {
            "id": "MONDO:0030049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030049",
            "name": "46,xx sex reversal 5",
            "description": ""
        },
        {
            "id": "MONDO:0030049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030049",
            "name": "SRXX5",
            "description": ""
        },
        {
            "id": "MIM:618901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618901",
            "name": "46,XX sex reversal 5",
            "description": "46,XX sex reversal 5"
        }
    ]
}