{
  "id": 13296,
  "label": "nemaline myopathy 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012237",
  "properties": {
    "xrefs": [
      "DOID:0110935",
      "GARD:0015452",
      "MEDGEN:373095",
      "MESH:C538398",
      "OMIM:609273",
      "UMLS:C1836472"
    ],
    "synonyms": [
      "KBTBD13 nemaline myopathy",
      "nemaline myopathy 6",
      "nemaline myopathy caused by mutation in KBTBD13",
      "nemaline myopathy type 6",
      "NEM6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16498,
      "label": "childhood-onset nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16780,
        16781,
        17624,
        18880,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007171",
          "MEDGEN:154265",
          "Orphanet:171439",
          "UMLS:C0546125"
        ],
        "synonyms": [
          "mild nemaline myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction."
      },
      "child_count": 36,
      "reference_id": "MONDO:0015738"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16498,
      "label": "childhood-onset nemaline myopathy"
    }
  ]
}