{
    "disease_id": "DOID:0070423",
    "recommended_name": {
        "id": "DOID:0070423",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070423",
        "name": "early onset progressive encephalopathy with brain atrophy and thin corpus callosum",
        "description": "An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070423",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070423",
            "name": "PEBAT",
            "description": ""
        },
        {
            "id": "DOID:0070423",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070423",
            "name": "early-onset progressive encephalopathy with brain atrophy and thin corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0044646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044646",
            "name": "early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044646",
            "name": "PEBAT",
            "description": ""
        },
        {
            "id": "MONDO:0044646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044646",
            "name": "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0044646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044646",
            "name": "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT",
            "description": ""
        },
        {
            "id": "MIM:617193",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617193",
            "name": "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum",
            "description": "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070423"
    ],
    "unlinked_id_list": []
}