{
    "disease_id": "DOID:14448", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011766", 
            "name": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011766", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011766", 
            "name": "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14448", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14448", 
            "name": "46 XY gonadal dysgenesis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14448", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14448", 
            "name": "Pure gonadal dysgenesis 46,XY"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:14448", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:14448", 
            "name": "Swyer syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:14448", 
        "description": "A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.", 
        "resource": "Disease Ontology", 
        "id": "DOID:14448", 
        "name": "46,XY sex reversal"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/14448#disease-associations", 
            "id": "14448", 
            "database": "Alliance of Genome Resources"
        }
    ]
}