{
    "disease_id": "DOID:0060461",
    "recommended_name": {
        "id": "DOID:0060461",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060461",
        "name": "chromosome Xp11.23-p11.22 duplication syndrome",
        "description": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region."
    },
    "synonyms": [
        {
            "id": "DOID:0060461",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060461",
            "name": "microduplication Xp11.22-p11.23 syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060461",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060461",
            "name": "trisomy Xp11.22-p11.23",
            "description": ""
        },
        {
            "id": "MONDO:0010428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010428",
            "name": "chromosome Xp11.23-p11.22 duplication syndrome",
            "description": "A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures."
        },
        {
            "id": "MONDO:0010428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010428",
            "name": "Xp11.22-p11.23 Microduplication",
            "description": ""
        },
        {
            "id": "MONDO:0010428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010428",
            "name": "chromosome Xp11.23-p11.22 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010428",
            "name": "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010428",
            "name": "microduplication Xp11.22-p11.23 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010428",
            "name": "trisomy Xp11.22-p11.23",
            "description": ""
        }
    ]
}