{
    "disease_id": "DOID:0070537",
    "recommended_name": {
        "id": "DOID:0070537",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070537",
        "name": "spastic tetraplegia, thin corpus callosum, and progressive microcephaly",
        "description": "An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14."
    },
    "synonyms": [
        {
            "id": "DOID:0070537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070537",
            "name": "SPATCCM",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "ASCT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "SPATCCM",
            "description": ""
        },
        {
            "id": "MIM:616657",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616657",
            "name": "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly",
            "description": "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070537"
    ],
    "unlinked_id_list": []
}