{
  "id": 16511,
  "label": "cap myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015753",
  "properties": {
    "xrefs": [
      "GARD:0011915",
      "MEDGEN:777197",
      "MESH:C579969",
      "Orphanet:171881",
      "SCTID:703532002",
      "UMLS:C3710589"
    ],
    "synonyms": [
      "Cap disease",
      "congenital myopathy with caps"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23836,
      "label": "alpha-actinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16744,
        19669,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026038"
        ],
        "synonyms": [
          "actin myopathy",
          "actinopathy",
          "ACTA1 disease",
          "alpha actinopathy",
          "alpha-actinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance."
      },
      "child_count": 16,
      "reference_id": "MONDO:0100084"
    },
    {
      "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": 23836,
      "label": "alpha-actinopathy"
    },
    {
      "id": 23858,
      "label": "TPM3-related myopathy"
    }
  ]
}