{
    "disease_id": "DOID:0110774",
    "recommended_name": {
        "id": "DOID:0110774",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110774",
        "name": "hereditary spastic paraplegia 23",
        "description": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110774",
            "name": "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110774",
            "name": "Lison syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110774",
            "name": "SPG23",
            "description": ""
        },
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110774",
            "name": "spastic paraplegia 23",
            "description": ""
        },
        {
            "id": "DOID:0110774",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110774",
            "name": "spastic paraplegia with pigmentary abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "hereditary spastic paraplegia 23",
            "description": "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32."
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia 23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraparesis, vitiligo, premature graying, characteristic facies",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia vitiligo premature graying and characteristic facies",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia with pigmentary abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "DSTYK autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "SPG 23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia 23; SPG23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "spastic paraplegia and pigmentary abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "autosomal recessive spastic paraplegia type 23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "hereditary spastic paraplegia type 23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "SPG23",
            "description": ""
        },
        {
            "id": "MONDO:0010046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010046",
            "name": "Lison syndrome",
            "description": ""
        },
        {
            "id": "MIM:270750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/270750",
            "name": "Spastic paraplegia 23, autosomal recessive",
            "description": "Spastic paraplegia 23, autosomal recessive"
        }
    ]
}