{
    "disease_id": "DOID:0110633",
    "recommended_name": {
        "id": "DOID:0110633",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110633",
        "name": "rigid spine muscular dystrophy 1",
        "description": "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "congenital merosin-positive muscular dystrophy with early spine rigidity",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "Eichsfeld type congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "MDRS1",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "RSMD1",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "RSS",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "SEPN1-related myopathy",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "desmin-related myopathy with Mallory body-like inclusions",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "classic MmD",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "classic multiminicore disease",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "classic multiminicore myopathy",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "desmin-related myopathy with Mallory bodies",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "early-onset desmin-related myopathy",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "rigid spine syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "severe classic form minicore myopathy",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "severe classic form multicore myopathy",
            "description": ""
        },
        {
            "id": "DOID:0110633",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110633",
            "name": "severe classic form multiminicore disease",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "rigid spine muscular dystrophy 1",
            "description": "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage."
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "severe classic form minicore myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "MDRS1",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "severe classic form multiminicore disease",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "desmin-related myopathy with Mallory bodies",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "congenital merosin-positive muscular dystrophy with early spine rigidity",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "myopathy, Sepn1-related",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "classic MmD",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "Eichsfeld type congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "SEPN1-related myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "muscular dystrophy, congenital, merosin-positive, with early spine rigidity",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "RSS",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "RSMD1",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "classic multiminicore myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "desmin-related myopathy with Mallory body-like inclusions",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "rigid spine muscular dystrophy 1; RSMD1",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "rigid spine syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "muscular dystrophy, congenital, Eichsfeld type",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "rigid spine syndrome caused by mutation in SELENON",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "classic multiminicore disease",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "SELENON rigid spine syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "multicore myopathy, Severe classic form",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "early-onset desmin-related myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "rigid spine muscular dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "rigid spine muscular dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "minicore myopathy, Severe classic form",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "multiminicore disease, Severe classic form",
            "description": ""
        },
        {
            "id": "MONDO:0011271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011271",
            "name": "severe classic form multicore myopathy",
            "description": ""
        },
        {
            "id": "MIM:602771",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602771",
            "name": "Rigid spine muscular dystrophy 1",
            "description": "Rigid spine muscular dystrophy 1"
        }
    ]
}