{
  "id": 11562,
  "label": "X-linked myopathy with postural muscle atrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010401",
  "properties": {
    "xrefs": [
      "DOID:0070251",
      "GARD:0017081",
      "MEDGEN:395525",
      "OMIM:300696",
      "Orphanet:178461",
      "UMLS:C2678055",
      "icd11.foundation:420677690"
    ],
    "synonyms": [
      "X-linked myopathy with postural muscle atrophy",
      "XMPMA",
      "myopathy, X-linked, with postural muscle atrophy, X-linked recessive",
      "Ehlers-Danlos syndrome, classic-like, 1",
      "Emery-Dreifuss muscular dystrophy 6, X-linked",
      "myopathy, X-linked, with postural muscle atrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11825,
      "label": "X-linked Emery-Dreifuss muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        17256,
        20345
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002102",
          "MEDGEN:148284",
          "MESH:D000083143",
          "Orphanet:98863",
          "UMLS:C0751337",
          "icd11.foundation:516501338"
        ],
        "synonyms": [
          "Emerinopathy",
          "Emery-Dreifuss muscular dystrophy, X-linked",
          "X-linked Emery-Dreifuss muscular dystrophy",
          "muscular dystrophy, tardive Emery-Dreifuss type, with contractures",
          "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked form of Emery-Dreifuss muscular dystrophy."
      },
      "child_count": 9,
      "reference_id": "MONDO:0010680"
    },
    {
      "id": 25048,
      "label": "FHL1-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026563"
        ],
        "synonyms": [
          "FHL1-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy."
      },
      "child_count": 10,
      "reference_id": "MONDO:0800462"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11825,
      "label": "X-linked Emery-Dreifuss muscular dystrophy"
    },
    {
      "id": 25048,
      "label": "FHL1-related myopathy"
    }
  ]
}