{
  "id": 23858,
  "label": "TPM3-related myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100108",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 13298,
      "label": "congenital myopathy 4B, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16496,
        16498,
        23858
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110926",
          "GARD:0015453",
          "MEDGEN:1840525",
          "MESH:C538348",
          "OMIM:609284",
          "UMLS:C5829889"
        ],
        "synonyms": [
          "TPM3 nemaline myopathy",
          "nemaline myopathy caused by mutation in TPM3",
          "NEM1",
          "Nem1",
          "nemaline myopathy 1",
          "nemaline myopathy 1, autosomal dominant or recessive",
          "nemaline myopathy type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012239"
    },
    {
      "id": 16511,
      "label": "cap myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23836,
        23858
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015753"
    },
    {
      "id": 24935,
      "label": "congenital myopathy 4A, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23858
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800341"
    }
  ],
  "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"
    }
  ]
}