{
    "disease_id": "DOID:0070544",
    "recommended_name": {
        "id": "DOID:0070544",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070544",
        "name": "congenital glutamine deficiency",
        "description": "An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070544",
            "name": "GLND",
            "description": ""
        },
        {
            "id": "DOID:0070544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070544",
            "name": "congenital systemic glutamine synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012393",
            "name": "congenital brain dysgenesis due to glutamine synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012393",
            "name": "congenital brain dysgenesis due to glutamine synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012393",
            "name": "inherited GS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012393",
            "name": "inherited glutamine synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012393",
            "name": "congenital glutamine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012393",
            "name": "glutamine synthetase deficiency, congenital systemic",
            "description": ""
        },
        {
            "id": "MIM:610015",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610015",
            "name": "Glutamine deficiency, congenital",
            "description": "Glutamine deficiency, congenital"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070544"
    ],
    "unlinked_id_list": []
}