{
    "disease_id": "DOID:0060435",
    "recommended_name": {
        "id": "DOID:0060435",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060435",
        "name": "chromosome 1q21.1 duplication syndrome",
        "description": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region."
    },
    "synonyms": [
        {
            "id": "DOID:0060435",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060435",
            "name": "1q21.1 microduplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060435",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060435",
            "name": "trisomy 1q21.1",
            "description": ""
        },
        {
            "id": "MONDO:0012915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012915",
            "name": "chromosome 1q21.1 duplication syndrome",
            "description": "Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual."
        },
        {
            "id": "MONDO:0012915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012915",
            "name": "chromosome 1q21.1 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012915",
            "name": "trisomy 1q21.1",
            "description": ""
        },
        {
            "id": "MONDO:0012915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012915",
            "name": "dup(1)(q21.1)",
            "description": ""
        },
        {
            "id": "MONDO:0012915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012915",
            "name": "1q21.1 microduplication syndrome",
            "description": ""
        }
    ]
}