{
  "id": 24935,
  "label": "congenital myopathy 4A, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800341",
  "properties": {
    "xrefs": [
      "GARD:0026509",
      "OMIM:255310"
    ],
    "synonyms": [
      "CAPM1",
      "CFTD",
      "CFTDM",
      "NEM1",
      "cap myopathy 1",
      "fiber-type disproportion myopathy, congenital",
      "myopathy, congenital, with fiber-type disproportion",
      "nemaline myopathy 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23858,
      "label": "TPM3-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        17624,
        19669,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026050"
        ],
        "synonyms": [
          "TPM3 myopathy",
          "TPM3-related myopathy",
          "congenital myopathy related to TPM3",
          "autosomal dominant TPM3-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation."
      },
      "child_count": 12,
      "reference_id": "MONDO:0100108"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23858,
      "label": "TPM3-related myopathy"
    }
  ]
}