{
  "id": 16496,
  "label": "intermediate nemaline myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015736",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 7023,
      "label": "myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:423",
          "EFO:0004145",
          "ICD9:359.8",
          "ICD9:359.9",
          "ICD9:728.3",
          "MEDGEN:10135",
          "NCIT:C101216",
          "SCTID:129565002",
          "UMLS:C0026848",
          "icd11.foundation:1870184184"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."
      },
      "child_count": 32,
      "reference_id": "MONDO:0005336"
    },
    {
      "id": 16780,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of alpha-actin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020432",
          "MEDGEN:1842305",
          "Orphanet:209059",
          "UMLS:C5680845"
        ],
        "synonyms": [
          "qualitative or quantitative defects of alpha-actin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016193"
    },
    {
      "id": 16781,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of nebulin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020433",
          "MEDGEN:1842429",
          "Orphanet:209182",
          "UMLS:C5680844"
        ],
        "synonyms": [
          "qualitative or quantitative defects of nebulin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016194"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 9392,
      "label": "congenital myopathy 2a, typical, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16495,
        16496,
        16497,
        16498,
        23836
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110927",
          "GARD:0010111",
          "MEDGEN:777997",
          "MESH:C579880",
          "MESH:C580202",
          "NCIT:C129870",
          "OMIM:161800",
          "Orphanet:98904",
          "SCTID:702349003",
          "UMLS:C3711389"
        ],
        "synonyms": [
          "ACTA1 nemaline myopathy",
          "CMYO2A",
          "actin accumulation myopathy",
          "actin accumulation myopathy (disorder)",
          "actin myopathy",
          "congenital myopathy 2a, typical, autosomal dominant",
          "congenital myopathy with excess of thin filaments",
          "nemaline myopathy caused by mutation in ACTA1",
          "nemaline myopathy type 3",
          "NEM3",
          "myopathy, actin, congenital, with Excess of thin myofilaments",
          "myopathy, actin, congenital, with cores",
          "nemaline myopathy 3",
          "nemaline myopathy 3, with intranuclear rods"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008070"
    },
    {
      "id": 10938,
      "label": "nemaline myopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16495,
        16496,
        16497,
        16498
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110928",
          "GARD:0015209",
          "MEDGEN:342534",
          "MESH:C538349",
          "NCIT:C118784",
          "OMIM:256030",
          "UMLS:C1850569"
        ],
        "synonyms": [
          "NEB nemaline myopathy",
          "NEM2",
          "nemaline myopathy 2",
          "nemaline myopathy caused by mutation in NEB",
          "nemaline myopathy type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009725"
    },
    {
      "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": 15329,
      "label": "nemaline myopathy 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16495,
        16496,
        16497,
        16498
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110929",
          "GARD:0016007",
          "MEDGEN:816714",
          "OMIM:615731",
          "UMLS:C3810384"
        ],
        "synonyms": [
          "KLHL41 nemaline myopathy",
          "NEM9",
          "nemaline myopathy 9",
          "nemaline myopathy caused by mutation in KLHL41",
          "nemaline myopathy type 9"
        ],
        "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 KLHL41 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014326"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 16780,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of alpha-actin"
    },
    {
      "id": 16781,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of nebulin"
    },
    {
      "id": 17624,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of tropomyosin"
    }
  ]
}