{
    "disease_id": "DOID:0070251",
    "recommended_name": {
        "id": "DOID:0070251",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070251",
        "name": "X-linked Emery-Dreifuss muscular dystrophy 6",
        "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070251",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070251",
            "name": "EDMD6",
            "description": ""
        },
        {
            "id": "DOID:0070251",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070251",
            "name": "Emery-Dreifuss muscular dystrophy 6, X-linked",
            "description": ""
        },
        {
            "id": "DOID:0070251",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070251",
            "name": "XMPMA",
            "description": ""
        },
        {
            "id": "DOID:0070251",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070251",
            "name": "myopathy, X-linked, with postural muscle atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010401",
            "name": "X-linked myopathy with postural muscle atrophy",
            "description": "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present."
        },
        {
            "id": "MONDO:0010401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010401",
            "name": "X-linked myopathy with postural muscle atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010401",
            "name": "XMPMA",
            "description": ""
        },
        {
            "id": "MONDO:0010401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010401",
            "name": "myopathy, X-linked, with postural muscle atrophy, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010401",
            "name": "myopathy, X-linked, with postural muscle atrophy",
            "description": ""
        },
        {
            "id": "MIM:300696",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300696",
            "name": "Myopathy, X-linked, with postural muscle atrophy",
            "description": "Myopathy, X-linked, with postural muscle atrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070251"
    ],
    "unlinked_id_list": []
}