{
    "disease_id": "DOID:0060412",
    "recommended_name": {
        "id": "DOID:0060412",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060412",
        "name": "chromosome 1q41-q42 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region."
    },
    "synonyms": [
        {
            "id": "DOID:0060412",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060412",
            "name": "1q41-q42 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060412",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060412",
            "name": "1q41q42 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "chromosome 1q41-q42 deletion syndrome",
            "description": "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease."
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "1q41q42 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "Del(1)(q41q42)",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "chromosome 1q41-q42 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "chromosome 1q41-q42 deletion syndrome, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "monosomy 1q41-q42",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "monosomy 1q41q42",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "1q41-q42 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012927",
            "name": "deletion 1q41-q42",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060412"
    ],
    "unlinked_id_list": []
}