{
  "id": 17624,
  "label": "neuromuscular disease caused by qualitative or quantitative defects of tropomyosin",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017303",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020388",
          "MEDGEN:1842598",
          "Orphanet:207049",
          "UMLS:C5680807"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0016139"
    }
  ],
  "children": [
    {
      "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": 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": 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"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    }
  ]
}