{
    "disease_id": "DOID:0070454",
    "recommended_name": {
        "id": "DOID:0070454",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070454",
        "name": "hereditary spastic paraplegia 70",
        "description": "A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070454",
            "name": "SPG70",
            "description": ""
        },
        {
            "id": "DOID:0070454",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070454",
            "name": "autosomal recessive spastic paraplegia 70",
            "description": ""
        },
        {
            "id": "MONDO:0018422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018422",
            "name": "autosomal recessive spastic paraplegia type 70",
            "description": "A rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities."
        },
        {
            "id": "MONDO:0018422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018422",
            "name": "SPG70",
            "description": ""
        },
        {
            "id": "MONDO:0018422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018422",
            "name": "autosomal recessive spastic paraplegia type 70",
            "description": ""
        },
        {
            "id": "MONDO:0018422",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018422",
            "name": "spastic paraplegia 70, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620323",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620323",
            "name": "Spastic paraplegia 70, autosomal recessive",
            "description": "Spastic paraplegia 70, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070454"
    ],
    "unlinked_id_list": []
}