{
    "disease_id": "DOID:0112213",
    "recommended_name": {
        "id": "DOID:0112213",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112213",
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome 4",
        "description": "A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "DEE77",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "GPIBD19",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "MCAHS4",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "developmental and epileptic encephalopathy 77",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "early infantile epileptic encephalopathy 77",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "glycosylphosphatidylinositol biosynthesis defect 19",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "developmental and epileptic encephalopathy, 77",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "DEE77",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "EIEE77",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "epileptic encephalopathy, early infantile, 77",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 4",
            "description": ""
        },
        {
            "id": "MIM:618548",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618548",
            "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 4",
            "description": "Multiple congenital anomalies-hypotonia-seizures syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112213"
    ],
    "unlinked_id_list": []
}