{
    "disease_id": "DOID:0060431",
    "recommended_name": {
        "id": "DOID:0060431",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060431",
        "name": "chromosome 16p13.3 duplication syndrome",
        "description": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region."
    },
    "synonyms": [
        {
            "id": "DOID:0060431",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060431",
            "name": "16p13.3 microduplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060431",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060431",
            "name": "distal duplication 16p",
            "description": ""
        },
        {
            "id": "DOID:0060431",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060431",
            "name": "distal trisomy 16p",
            "description": ""
        },
        {
            "id": "DOID:0060431",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060431",
            "name": "telomeric duplication 16p",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "chromosome 16p13.3 duplication syndrome",
            "description": "16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems."
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "telomeric duplication 16p",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "16p13.3 microduplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "trisomy 16pter",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "chromosome 16p13.3 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "16p13.3 duplication",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "dup(16)(p13.3)",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "interstitial 16p13.3 duplication",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "distal trisomy 16p",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "chromosome 16p13.3 duplication",
            "description": ""
        },
        {
            "id": "MONDO:0013273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013273",
            "name": "distal duplication 16p",
            "description": ""
        }
    ]
}