{
  "id": 13299,
  "label": "congenital myopathy 23",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012240",
  "properties": {
    "xrefs": [
      "DOID:0110932",
      "GARD:0015454",
      "MEDGEN:324513",
      "MESH:C538351",
      "NCIT:C164225",
      "OMIM:609285",
      "UMLS:C1836447"
    ],
    "synonyms": [
      "CAPM2",
      "NEM4",
      "TPM2 nemaline myopathy",
      "nemaline myopathy 4",
      "nemaline myopathy caused by mutation in TPM2",
      "nemaline myopathy type 4"
    ],
    "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 TPM2 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"
    },
    {
      "id": 16498,
      "label": "childhood-onset nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16780,
        16781,
        17624,
        18880,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007171",
          "MEDGEN:154265",
          "Orphanet:171439",
          "UMLS:C0546125"
        ],
        "synonyms": [
          "mild nemaline myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction."
      },
      "child_count": 36,
      "reference_id": "MONDO:0015738"
    },
    {
      "id": 23937,
      "label": "TPM2-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        17624,
        19669,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026079"
        ],
        "synonyms": [
          "TPM2 myopathy",
          "TPM2-related myopathy",
          "autosomal dominant TPM2-related myopathy",
          "congenital myopathy related to TPM2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100196"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16497,
      "label": "typical nemaline myopathy"
    },
    {
      "id": 16498,
      "label": "childhood-onset nemaline myopathy"
    },
    {
      "id": 23937,
      "label": "TPM2-related myopathy"
    }
  ]
}