{
    "disease_id": "DOID:0060433",
    "recommended_name": {
        "id": "DOID:0060433",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060433",
        "name": "chromosome 17q12 duplication syndrome",
        "description": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region."
    },
    "synonyms": [
        {
            "id": "DOID:0060433",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060433",
            "name": "17q12 microduplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060433",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060433",
            "name": "trisomy 17q12",
            "description": ""
        },
        {
            "id": "MONDO:0013796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013796",
            "name": "chromosome 17q12 duplication syndrome",
            "description": "17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia."
        },
        {
            "id": "MONDO:0013796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013796",
            "name": "17q12 microduplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013796",
            "name": "chromosome 17q12 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013796",
            "name": "dup(17)(q12)",
            "description": ""
        },
        {
            "id": "MONDO:0013796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013796",
            "name": "trisomy 17q12",
            "description": ""
        },
        {
            "id": "MONDO:0013796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013796",
            "name": "17q12 duplication",
            "description": ""
        },
        {
            "id": "MONDO:0013796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013796",
            "name": "17q12 microduplication",
            "description": ""
        },
        {
            "id": "MONDO:0013796",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013796",
            "name": "recurrent duplication of 17q12",
            "description": ""
        }
    ]
}