{
    "disease_id": "DOID:0111932",
    "recommended_name": {
        "id": "DOID:0111932",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111932",
        "name": "severe congenital encephalopathy due to MECP2 mutation",
        "description": "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111932",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111932",
            "name": "neonatal severe encephalopathy due to MECP2 mutations",
            "description": ""
        },
        {
            "id": "DOID:0111932",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111932",
            "name": "severe neonatal-onset encephalopathy with microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0010397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "name": "severe neonatal-onset encephalopathy with microcephaly",
            "description": "An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy."
        },
        {
            "id": "MONDO:0010397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "name": "encephalopathy, neonatal severe, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "name": "severe congenital encephalopathy due to MECP2 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0010397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "name": "severe neonatal encephalopathy due to MECP2 mutations",
            "description": ""
        },
        {
            "id": "MONDO:0010397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010397",
            "name": "encephalopathy, neonatal severe, due to MECP2 mutations",
            "description": ""
        },
        {
            "id": "MIM:300673",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300673",
            "name": "Encephalopathy, neonatal severe, due to MECP2 mutations",
            "description": "Encephalopathy, neonatal severe, due to MECP2 mutations"
        }
    ]
}