{
    "disease_id": "DOID:0111194",
    "recommended_name": {
        "id": "DOID:0111194",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111194",
        "name": "autosomal dominant adult-onset proximal spinal muscular atrophy",
        "description": "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111194",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111194",
            "name": "Finkel disease",
            "description": ""
        },
        {
            "id": "DOID:0111194",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111194",
            "name": "Finkel late-adult type SMA",
            "description": ""
        },
        {
            "id": "DOID:0111194",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111194",
            "name": "SMAFK",
            "description": ""
        },
        {
            "id": "DOID:0111194",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111194",
            "name": "autosomal dominant adult-onset proximal SMA",
            "description": ""
        },
        {
            "id": "DOID:0111194",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111194",
            "name": "autosomal dominant late-onset spinal muscular atrophy, Finkel type",
            "description": ""
        },
        {
            "id": "DOID:0111194",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111194",
            "name": "autosomal dominant adult proximal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "adult-onset proximal spinal muscular atrophy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "autosomal dominant adult-onset proximal SMA",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "spinal muscular atrophy, late-onset, FINKEL type; SMAFK",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "autosomal dominant adult-onset proximal spinal muscular atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "spinal muscular atrophy, proximal, adult, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "Finkel disease",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "autosomal dominant late-onset spinal muscular atrophy, Finkel type",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "SMAFK",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "spinal muscular atrophy, late-onset, FINKEL type",
            "description": ""
        },
        {
            "id": "MONDO:0008453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008453",
            "name": "Finkel late-adult type Sma",
            "description": ""
        },
        {
            "id": "MIM:182980",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/182980",
            "name": "Spinal muscular atrophy, proximal, adult, autosomal dominant",
            "description": "Spinal muscular atrophy, proximal, adult, autosomal dominant"
        }
    ]
}