{
  "id": 12637,
  "label": "nemaline myopathy 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011539",
  "properties": {
    "xrefs": [
      "DOID:0110936",
      "GARD:0008334",
      "MEDGEN:344273",
      "MESH:C538397",
      "OMIM:605355",
      "Orphanet:98902",
      "UMLS:C1854380"
    ],
    "synonyms": [
      "ANM",
      "Amish nemaline myopathy",
      "NEM5",
      "TNNT1 nemaline myopathy",
      "nemaline myopathy 5",
      "nemaline myopathy caused by mutation in TNNT1",
      "nemaline myopathy type 5",
      "nemaline myopathy, Amish type",
      "nemaline myopathy, caused by mutation in the troponin t1 gene"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18880,
      "label": "nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3191",
          "GARD:0012033",
          "ICD10CM:G71.21",
          "MEDGEN:61528",
          "MESH:D017696",
          "NANDO:1200478",
          "NANDO:2200869",
          "OMIMPS:256030",
          "Orphanet:607",
          "SCTID:75072002",
          "UMLS:C0206157",
          "icd11.foundation:1996502540"
        ],
        "synonyms": [
          "NEM",
          "NM",
          "nemaline body disease",
          "nemaline myopathy",
          "nemaline rod myopathy",
          "rod myopathy",
          "Rod body disease",
          "Rod-body myopathy",
          "congenital rod disease",
          "nemaline rod disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018958"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18880,
      "label": "nemaline myopathy"
    }
  ]
}