{
  "id": 10938,
  "label": "nemaline myopathy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009725",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16495,
      "label": "severe congenital nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16780,
        16781,
        18880,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012821",
          "MEDGEN:1805110",
          "Orphanet:171430",
          "UMLS:C5680451",
          "icd11.foundation:1025202057"
        ],
        "synonyms": [
          "severe congenital (neonatal) NM"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates."
      },
      "child_count": 25,
      "reference_id": "MONDO:0015735"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16495,
      "label": "severe congenital nemaline myopathy"
    },
    {
      "id": 16496,
      "label": "intermediate nemaline myopathy"
    },
    {
      "id": 16497,
      "label": "typical nemaline myopathy"
    },
    {
      "id": 16498,
      "label": "childhood-onset nemaline myopathy"
    }
  ]
}