{
    "disease_id": "DOID:0110795",
    "recommended_name": {
        "id": "DOID:0110795",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110795",
        "name": "hereditary spastic paraplegia 43",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110795",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110795",
            "name": "SPG43",
            "description": ""
        },
        {
            "id": "DOID:0110795",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110795",
            "name": "autosomal recessive spastic paraplegia 43",
            "description": ""
        },
        {
            "id": "DOID:0110795",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110795",
            "name": "autosomal recessive spastic paraplegia type 43",
            "description": ""
        },
        {
            "id": "MONDO:0014024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014024",
            "name": "hereditary spastic paraplegia 43",
            "description": "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported."
        },
        {
            "id": "MONDO:0014024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014024",
            "name": "C19orf12 autosomal recessive complex spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014024",
            "name": "SPG43",
            "description": ""
        },
        {
            "id": "MONDO:0014024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014024",
            "name": "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12",
            "description": ""
        },
        {
            "id": "MONDO:0014024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014024",
            "name": "autosomal recessive spastic paraplegia type 43",
            "description": ""
        },
        {
            "id": "MONDO:0014024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014024",
            "name": "hereditary spastic paraplegia type 43",
            "description": ""
        },
        {
            "id": "MONDO:0014024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014024",
            "name": "spastic paraplegia 43, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615043",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615043",
            "name": "Spastic paraplegia 43, autosomal recessive",
            "description": "Spastic paraplegia 43, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110795"
    ],
    "unlinked_id_list": []
}