{
  "id": 23937,
  "label": "TPM2-related myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100196",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 17624,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of tropomyosin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021123",
          "MEDGEN:1842978",
          "Orphanet:284790",
          "UMLS:C5681012"
        ],
        "synonyms": [
          "qualitative or quantitative defects of tropomyosin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017303"
    },
    {
      "id": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080100",
          "DOID:0081337",
          "GARD:0005898",
          "MEDGEN:124381",
          "MedDRA:10062547",
          "NANDO:1200477",
          "NANDO:2100234",
          "OMIMPS:117000",
          "Orphanet:97245",
          "UMLS:C0270960",
          "icd11.foundation:1185572073"
        ],
        "synonyms": [
          "congenital myopathy",
          "Batten Turner congenital myopathy",
          "myopathy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 8694,
      "label": "central core myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18865,
        23892,
        23937
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3529",
          "EFO:1000855",
          "GARD:0006014",
          "MEDGEN:1841337",
          "MESH:D020512",
          "NANDO:1200479",
          "NANDO:2200870",
          "NCIT:C83010",
          "OMIM:117000",
          "Orphanet:597",
          "SCTID:43152001",
          "UMLS:C5830701",
          "icd11.foundation:2065822840"
        ],
        "synonyms": [
          "central core disease",
          "CCD",
          "Cco",
          "Shy-Magee syndrome",
          "central CORE disease of muscle",
          "minicore myopathy, moderate, with hand involvement",
          "multicore myopathy, moderate, with hand involvement",
          "multiminicore disease, moderate, with hand involvement",
          "muscle core disease",
          "muscular central core disease",
          "myopathy, central core",
          "myopathy, central fibrillar",
          "neuromuscular disease, congenital, with uniform type 1 Fiber",
          "neuromuscular disease, congenital, with uniform type 1 Fibre"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007294"
    },
    {
      "id": 13299,
      "label": "congenital myopathy 23",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16497,
        16498,
        23937
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012240"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 17624,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of tropomyosin"
    },
    {
      "id": 19669,
      "label": "congenital myopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}