{
  "id": 13586,
  "label": "nemaline myopathy 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012538",
  "properties": {
    "xrefs": [
      "DOID:0110934",
      "GARD:0015493",
      "MEDGEN:343979",
      "MESH:C565198",
      "OMIM:610687",
      "UMLS:C1853154"
    ],
    "synonyms": [
      "CFL2 nemaline myopathy",
      "NEM7",
      "nemaline myopathy 7",
      "nemaline myopathy caused by mutation in CFL2",
      "nemaline myopathy type 7"
    ],
    "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 CFL2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16497,
      "label": "typical nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16780,
        16781,
        17624,
        18880,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012822",
          "MEDGEN:1806265",
          "Orphanet:171436",
          "UMLS:C5680453",
          "icd11.foundation:1105111633"
        ],
        "synonyms": [
          "typical congenital nemaline myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement."
      },
      "child_count": 36,
      "reference_id": "MONDO:0015737"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16497,
      "label": "typical nemaline myopathy"
    }
  ]
}