{
    "disease_id": "DOID:0090122",
    "recommended_name": {
        "id": "DOID:0090122",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090122",
        "name": "aromatase excess syndrome",
        "description": "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0090122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090122",
            "name": "AEXS",
            "description": ""
        },
        {
            "id": "DOID:0090122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090122",
            "name": "familial hyperestrogenism",
            "description": ""
        },
        {
            "id": "DOID:0090122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090122",
            "name": "hereditary prepubertal gynecomastia",
            "description": ""
        },
        {
            "id": "DOID:0090122",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090122",
            "name": "increased aromatase activity",
            "description": ""
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "aromatase excess syndrome",
            "description": "Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all."
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "hereditary prepubertal gynecomastia",
            "description": ""
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "aromatase excess syndrome; AEXS",
            "description": ""
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "aromatase excess syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "aromatase activity, increased",
            "description": ""
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "increased aromatase activity",
            "description": ""
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "gynecomastia, hereditary",
            "description": ""
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "familial hyperestrogenism",
            "description": ""
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "gynecomastia, familial, due to increased aromatase activity",
            "description": ""
        },
        {
            "id": "MONDO:0007690",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007690",
            "name": "AEXS",
            "description": ""
        },
        {
            "id": "MIM:139300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/139300",
            "name": "Aromatase excess syndrome",
            "description": "Aromatase excess syndrome"
        }
    ]
}
