{
    "disease_id": "DOID:0110634",
    "recommended_name": {
        "id": "DOID:0110634",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110634",
        "name": "congenital muscular dystrophy 1B",
        "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0110634",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110634",
            "name": "CMD1B",
            "description": ""
        },
        {
            "id": "DOID:0110634",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110634",
            "name": "MDC1B",
            "description": ""
        },
        {
            "id": "DOID:0110634",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110634",
            "name": "congenital muscular dystrophy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011486",
            "name": "congenital muscular dystrophy 1B",
            "description": "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation."
        },
        {
            "id": "MONDO:0011486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011486",
            "name": "muscular dystrophy, congenital, 1B; MDC1B",
            "description": ""
        },
        {
            "id": "MONDO:0011486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011486",
            "name": "congenital muscular dystrophy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011486",
            "name": "muscular dystrophy, congenital, 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011486",
            "name": "CMD1B",
            "description": ""
        },
        {
            "id": "MONDO:0011486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011486",
            "name": "MDC1B",
            "description": ""
        }
    ]
}