{
    "disease_id": "DOID:0060460",
    "recommended_name": {
        "id": "DOID:0060460",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060460",
        "name": "chromosome 5p13 duplication syndrome",
        "description": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region."
    },
    "synonyms": [
        {
            "id": "DOID:0060460",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060460",
            "name": "5p13 microduplication syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060460",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060460",
            "name": "trisomy 5p13",
            "description": ""
        },
        {
            "id": "MONDO:0013169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013169",
            "name": "chromosome 5p13 duplication syndrome",
            "description": "5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)."
        },
        {
            "id": "MONDO:0013169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013169",
            "name": "5p13 microduplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013169",
            "name": "trisomy 5p13",
            "description": ""
        },
        {
            "id": "MONDO:0013169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013169",
            "name": "chromosome 5p13 duplication syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013169",
            "name": "dup(5)(p13)",
            "description": ""
        }
    ]
}