{
    "disease_id": "DOID:14250",
    "recommended_name": {
        "id": "DOID:14250",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:14250",
        "name": "Down syndrome",
        "description": "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability."
    },
    "synonyms": [
        {
            "id": "DOID:14250",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14250",
            "name": "Complete trisomy 21 syndrome",
            "description": ""
        },
        {
            "id": "DOID:14250",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14250",
            "name": "Down's syndrome",
            "description": ""
        },
        {
            "id": "DOID:14250",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14250",
            "name": "Down's syndrome - trisomy 21",
            "description": ""
        },
        {
            "id": "DOID:14250",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14250",
            "name": "Downs syndrome",
            "description": ""
        },
        {
            "id": "DOID:14250",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14250",
            "name": "G Trisomy",
            "description": ""
        },
        {
            "id": "DOID:14250",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:14250",
            "name": "trisomy 21 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "down syndrome",
            "description": "Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects."
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "Down's syndrome - trisomy 21",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "Down syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "Downs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "transient myeloproliferative disorder of Down syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "G trisomy",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "trisomy 21 (Down syndrome)",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "Down syndrome chromosome region",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "trisomy 21",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "Down's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "down syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "Down syndrome critical region",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "complete trisomy 21 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "trisomy 21 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008608",
            "name": "leukemia, megakaryoblastic, of Down syndrome",
            "description": ""
        }
    ]
}