{
    "disease_id": "DOID:14448",
    "recommended_name": {
        "id": "DOID:14448",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14448",
        "name": "46,XY sex reversal",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:14448",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14448",
            "name": "46 XY gonadal dysgenesis",
            "description": ""
        },
        {
            "id": "DOID:14448",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14448",
            "name": "Pure gonadal dysgenesis 46,XY",
            "description": ""
        },
        {
            "id": "DOID:14448",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14448",
            "name": "Swyer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY sex reversal 1",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "SRXY1",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY sex reversal 1",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY sex reversal, SRY-related",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY sex reversal type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY true hermaphroditism, SRY-related",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY sex reversal 1; SRXY1",
            "description": ""
        },
        {
            "id": "MONDO:0020712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020712",
            "name": "46,XY gonadal dysgenesis, complete, SRY-related",
            "description": ""
        },
        {
            "id": "MONDO:0011766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011766",
            "name": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011766",
            "name": "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy",
            "description": ""
        },
        {
            "id": "MIM:400044",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/400044",
            "name": "46,XY sex reversal 1",
            "description": "46,XY sex reversal 1"
        },
        {
            "id": "MIM:607080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607080",
            "name": "Partial gonadal dysgenesis with minifascicular neuropathy 46,XY",
            "description": "Partial gonadal dysgenesis with minifascicular neuropathy 46,XY"
        }
    ]
}