{
  "id": 15999,
  "label": "MYPN-related myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015023",
  "properties": {
    "xrefs": [
      "DOID:0110933",
      "GARD:0016222",
      "MEDGEN:1384302",
      "OMIM:617336",
      "UMLS:C4479186"
    ],
    "synonyms": [
      "MYPN nemaline myopathy",
      "MYPN-related myopathy",
      "NEM11",
      "nemaline myopathy 11",
      "nemaline myopathy 11, autosomal recessive",
      "nemaline myopathy caused by mutation in MYPN",
      "nemaline myopathy type 11"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions."
  },
  "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"
    }
  ]
}