{
    "disease_id": "DOID:0110814",
    "recommended_name": {
        "id": "DOID:0110814",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110814",
        "name": "hereditary spastic paraplegia 63",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110814",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110814",
            "name": "SPG63",
            "description": ""
        },
        {
            "id": "DOID:0110814",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110814",
            "name": "autosomal recessive spastic paraplegia 63",
            "description": ""
        },
        {
            "id": "DOID:0110814",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110814",
            "name": "spastic paraplegia 63",
            "description": ""
        },
        {
            "id": "MONDO:0014305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014305",
            "name": "hereditary spastic paraplegia 63",
            "description": "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2."
        },
        {
            "id": "MONDO:0014305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014305",
            "name": "AMPD2 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014305",
            "name": "SPG63",
            "description": ""
        },
        {
            "id": "MONDO:0014305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014305",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2",
            "description": ""
        },
        {
            "id": "MONDO:0014305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014305",
            "name": "hereditary spastic paraplegia type 63",
            "description": ""
        },
        {
            "id": "MONDO:0014305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014305",
            "name": "spastic paraplegia 63, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615686",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615686",
            "name": "Spastic paraplegia 63, autosomal recessive",
            "description": "Spastic paraplegia 63, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110814"
    ],
    "unlinked_id_list": []
}