{
    "disease_id": "DOID:0070542",
    "recommended_name": {
        "id": "DOID:0070542",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070542",
        "name": "neurodevelopmental disorder with spastic paraplegia and microcephaly",
        "description": "An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common."
    },
    "synonyms": [
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "GPT2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "MRT49",
            "description": ""
        },
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "NEDSPM",
            "description": ""
        },
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "autosomal recessive mental retardation 49",
            "description": ""
        },
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "glutamate pyruvate transaminase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "glutamate pyruvate transaminase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "GPT2 Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "GPT2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "glutamate pyruvate transaminase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "mental retardation, autosomal recessive 49",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "mental retardation, autosomal recessive type 49",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "neurodevelopmental disorder with microcephaly and spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MIM:616281",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616281",
            "name": "Neurodevelopmental disorder with spastic paraplegia and microcephaly",
            "description": "Neurodevelopmental disorder with spastic paraplegia and microcephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070542"
    ],
    "unlinked_id_list": []
}