{
    "disease_id": "DOID:0060418",
    "recommended_name": {
        "id": "DOID:0060418",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060418",
        "name": "chromosome 3q13.31 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia."
    },
    "synonyms": [
        {
            "id": "DOID:0060418",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060418",
            "name": "3q13 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060418",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060418",
            "name": "monosomy 3q13",
            "description": ""
        },
        {
            "id": "MONDO:0014185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014185",
            "name": "chromosome 3q13.31 deletion syndrome",
            "description": "3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present."
        },
        {
            "id": "MONDO:0014185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014185",
            "name": "chromosome 3q13.31 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014185",
            "name": "monosomy 3q13",
            "description": ""
        },
        {
            "id": "MONDO:0014185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014185",
            "name": "Del(3)(q13)",
            "description": ""
        },
        {
            "id": "MONDO:0014185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014185",
            "name": "3q13 microdeletion syndrome",
            "description": ""
        }
    ]
}