{
  "id": 13298,
  "label": "congenital myopathy 4B, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012239",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16496,
      "label": "intermediate nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        7023,
        16780,
        16781,
        17624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012823",
          "MEDGEN:1803914",
          "Orphanet:171433",
          "UMLS:C5680452",
          "icd11.foundation:1667070006"
        ],
        "synonyms": [
          "Intermediate congenital NM",
          "Intermediate congenital nemaline myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression."
      },
      "child_count": 20,
      "reference_id": "MONDO:0015736"
    },
    {
      "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": 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": 16496,
      "label": "intermediate nemaline myopathy"
    },
    {
      "id": 16498,
      "label": "childhood-onset nemaline myopathy"
    },
    {
      "id": 23858,
      "label": "TPM3-related myopathy"
    }
  ]
}