{
    "disease_id": "DOID:0081273",
    "recommended_name": {
        "id": "DOID:0081273",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081273",
        "name": "Siddiqi syndrome",
        "description": "A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032842",
            "name": "Siddiqi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032842",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032842",
            "name": "SIDDIS",
            "description": ""
        },
        {
            "id": "MIM:618635",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618635",
            "name": "Siddiqi syndrome",
            "description": "Siddiqi syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081273"
    ],
    "unlinked_id_list": []
}