{
    "disease_id": "DOID:0081395",
    "recommended_name": {
        "id": "DOID:0081395",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081395",
        "name": "Harel-Yoon syndrome",
        "description": "A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0081395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081395",
            "name": "Ocular anomalies-axonal neuropathy-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "Harel-Yoon syndrome",
            "description": "A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy."
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "HAYOS",
            "description": ""
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "Harel-Yoon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "Harel-Yoon syndrome; HAYOS",
            "description": ""
        },
        {
            "id": "MONDO:0014958",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014958",
            "name": "optic atrophy-peripheral neuropathy-developmental delay syndrome",
            "description": ""
        },
        {
            "id": "MIM:617183",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617183",
            "name": "Harel-Yoon syndrome",
            "description": "Harel-Yoon syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081395"
    ],
    "unlinked_id_list": []
}