{
    "disease_id": "DOID:0060407",
    "recommended_name": {
        "id": "DOID:0060407",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060407",
        "name": "chromosome 18q deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations."
    },
    "synonyms": [
        {
            "id": "DOID:0060407",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060407",
            "name": "18q- syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060407",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060407",
            "name": "deletion 18q",
            "description": ""
        },
        {
            "id": "DOID:0060407",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060407",
            "name": "monosomy 18q",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "chromosome 18q deletion syndrome",
            "description": "A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts."
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "proximal chromosome 18q deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "proximal 18q deletion",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "proximal 18q-",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "deletion 18q syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "18Q- syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "proximal 18q deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "monosomy type 18q",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "monosomy 18q",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "18Q syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "deletion 18q",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "chromosome 18q deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "18q-syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "chromosome 18Q- syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "18q- syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "monosomy 18q syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011147",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011147",
            "name": "18q deletion syndrome",
            "description": ""
        }
    ]
}