{
    "disease_id": "DOID:0111526",
    "recommended_name": {
        "id": "DOID:0111526",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111526",
        "name": "Mullerian aplasia and hyperandrogenism",
        "description": "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111526",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111526",
            "name": "Mullerian duct failure and hyperandrogenism",
            "description": ""
        },
        {
            "id": "DOID:0111526",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111526",
            "name": "WNT4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "mullerian aplasia and hyperandrogenism",
            "description": "Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina."
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "mullerian aplasia and hyperandrogenism",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "Mllerian aplasia and hyperandrogenism",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "Mullerian duct failure and hyperandrogenism",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "WNT4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008019",
            "name": "Mllerian duct failure and hyperandrogenism",
            "description": ""
        },
        {
            "id": "MIM:158330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158330",
            "name": "Mullerian aplasia and hyperandrogenism",
            "description": "Mullerian aplasia and hyperandrogenism"
        }
    ]
}