{
    "disease_id": "DOID:0111213",
    "recommended_name": {
        "id": "DOID:0111213",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111213",
        "name": "distal spinal muscular atrophy type 4",
        "description": "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111213",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111213",
            "name": "DSMA4",
            "description": ""
        },
        {
            "id": "DOID:0111213",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111213",
            "name": "autosomal recessive lower motor neuron disease with childhood onset",
            "description": ""
        },
        {
            "id": "DOID:0111213",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111213",
            "name": "autosomal recessive distal spinal muscular atrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "autosomal recessive lower motor neuron disease with childhood onset",
            "description": "Autosomal recessive lower motor neuron disease with childhood onset is a rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported."
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "distal spinal muscular atrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "autosomal recessive distal spinal muscular atrophy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "spinal muscular atrophy, distal, autosomal recessive, 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "dSMA4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "spinal muscular atrophy, distal, autosomal recessive, 4; DSMA4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "spinal muscular atrophy, distal, autosomal recessive, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012608",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012608",
            "name": "DSMA4",
            "description": ""
        },
        {
            "id": "MIM:611067",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611067",
            "name": "Distal spinal muscular atrophy, autosomal recessive, 4",
            "description": "Distal spinal muscular atrophy, autosomal recessive, 4"
        }
    ]
}