{
    "disease_id": "DOID:0110790",
    "recommended_name": {
        "id": "DOID:0110790",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110790",
        "name": "hereditary spastic paraplegia 39",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110790",
            "name": "NTE-related motor neuron disorder",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110790",
            "name": "NTEMND",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110790",
            "name": "SPG39",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110790",
            "name": "spastic paraplegia due to neuropathy target esterase mutation",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110790",
            "name": "autosomal recessive spastic paraplegia 39",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110790",
            "name": "autosomal recessive spastic paraplegia type 39",
            "description": ""
        },
        {
            "id": "DOID:0110790",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110790",
            "name": "spastic paraplegia due to NTE mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "hereditary spastic paraplegia 39",
            "description": "This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting."
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "hereditary spastic paraplegia caused by mutation in PNPLA6",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "PNPLA6 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "spastic paraplegia due to NTE mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "NTE-related motor neuron disorder",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "autosomal recessive spastic paraplegia 39",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "spastic paraplegia 39, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "hereditary spastic paraplegia type 39",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "spastic paraplegia 39",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "NTE related motor neuron disorder",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "SPG39",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "spastic paraplegia due to neuropathy target esterase mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "spastic paraplegia 39, autosomal recessive; SPG39",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "NTEMND",
            "description": ""
        },
        {
            "id": "MONDO:0012787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012787",
            "name": "autosomal recessive spastic paraplegia type 39",
            "description": ""
        },
        {
            "id": "MIM:612020",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612020",
            "name": "Spastic paraplegia 39, autosomal recessive",
            "description": "Spastic paraplegia 39, autosomal recessive"
        }
    ]
}