{
    "disease_id": "DOID:0111552",
    "recommended_name": {
        "id": "DOID:0111552",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111552",
        "name": "scapuloperoneal spinal muscular atrophy",
        "description": "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111552",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111552",
            "name": "neurogenic scapuloperoneal amyotrophy, New England type",
            "description": ""
        },
        {
            "id": "DOID:0111552",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111552",
            "name": "SPSMA",
            "description": ""
        },
        {
            "id": "DOID:0111552",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111552",
            "name": "scapuloperoneal neuronopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008408",
            "name": "scapuloperoneal spinal muscular atrophy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008408",
            "name": "SPSMA",
            "description": ""
        },
        {
            "id": "MONDO:0008408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008408",
            "name": "neurogenic scapuloperoneal amyotrophy, New England type",
            "description": ""
        },
        {
            "id": "MONDO:0008408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008408",
            "name": "scapuloperoneal neuronopathy",
            "description": ""
        },
        {
            "id": "MONDO:0008408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008408",
            "name": "scapuloperoneal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MIM:181405",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/181405",
            "name": "Scapuloperoneal spinal muscular atrophy",
            "description": "Scapuloperoneal spinal muscular atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111552"
    ],
    "unlinked_id_list": []
}