{
    "disease_id": "DOID:0070391",
    "recommended_name": {
        "id": "DOID:0070391",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070391",
        "name": "developmental and epileptic encephalopathy 105",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070391",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070391",
            "name": "DEE105",
            "description": ""
        },
        {
            "id": "DOID:0070391",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070391",
            "name": "early infantile epileptic encephalopathy 105",
            "description": ""
        },
        {
            "id": "MONDO:0031028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031028",
            "name": "developmental and epileptic encephalopathy 105 with hypopituitarism",
            "description": "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25."
        },
        {
            "id": "MONDO:0031028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031028",
            "name": "DEE105",
            "description": ""
        },
        {
            "id": "MONDO:0031028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031028",
            "name": "developmental and epileptic encephalopathy 105 with hypopituitarism",
            "description": ""
        },
        {
            "id": "MIM:619983",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619983",
            "name": "Developmental and epileptic encephalopathy 105 with hypopituitarism",
            "description": "Developmental and epileptic encephalopathy 105 with hypopituitarism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070391"
    ],
    "unlinked_id_list": []
}