{
    "disease_id": "DOID:0060415",
    "recommended_name": {
        "id": "DOID:0060415",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060415",
        "name": "chromosome 2p16.1-p15 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate."
    },
    "synonyms": [
        {
            "id": "DOID:0060415",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060415",
            "name": "2p15p16.1 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012916",
            "name": "chromosome 2p16.1-p15 deletion syndrome",
            "description": "2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism."
        },
        {
            "id": "MONDO:0012916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012916",
            "name": "2p15-p16.1 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012916",
            "name": "chromosome 2p16.1-p15 deletion syndrome, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0012916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012916",
            "name": "monosomy 2p15-p16.1",
            "description": ""
        },
        {
            "id": "MONDO:0012916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012916",
            "name": "monosomy 2p15p16.1",
            "description": ""
        },
        {
            "id": "MONDO:0012916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012916",
            "name": "Del(2)(p15p16.1)",
            "description": ""
        },
        {
            "id": "MONDO:0012916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012916",
            "name": "chromosome 2p16.1-p15 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012916",
            "name": "2p15p16.1 microdeletion syndrome",
            "description": ""
        }
    ]
}