{
    "disease_id": "DOID:0111064", 
    "synonyms": [
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            "description": "", 
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            "description": "", 
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            "description": "", 
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            "description": "", 
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        }, 
        {
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            "description": "", 
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        {
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            "description": "", 
            "resource": "MONDO", 
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            "name": "spinal muscular atrophy, diaphragmatic"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
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            "name": "Hmn6"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "diaphragmatic spinal muscular atrophy"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "neuronopathy, distal hereditary motor, type VI"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "severe infantile axonal neuropathy with respiratory failure type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011436", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "spinal muscular atrophy, distal, autosomal recessive, type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011436", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "SMARD1"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "spinal muscular atrophy with respiratory distress type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011436", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "SIANRF"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "neuronopathy, distal hereditary motor, type 6"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "spinal muscular atrophy, distal, autosomal recessive, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011436", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "distal-HMN type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011436", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "IGHMBP2 spinal muscular atrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011436", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "neuronopathy, Severe infantile axonal, with respiratory failure"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011436", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "severe infantile axonal neuropathy with respiratory failure"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011436", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "dHMN6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011436", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011436", 
            "name": "HMN VI"
        }, 
        {
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            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "spinal muscular atrophy with respiratory distress type 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "DSMA1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "SIANRF"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "SMARD1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "dHMN6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "diaphragmatic spinal muscular atrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "distal hereditary motor neuropathy type 6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "distal-HMN type 6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "autosomal recessive distal spinal muscular atrophy 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "severe infantile axonal neuropathy with respiratory failure type 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111064", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111064", 
            "name": "autosomal recessive spinal muscular atrophy with respiratory distress"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111064", 
        "description": "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in  homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111064", 
        "name": "distal spinal muscular atrophy 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111064#disease-associations", 
            "id": "0111064", 
            "database": "Alliance of Genome Resources"
        }
    ]
}