{
  "id": 16499,
  "label": "adult-onset nemaline myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015739",
  "properties": {
    "xrefs": [
      "GARD:0012824",
      "MEDGEN:154264",
      "Orphanet:171442",
      "UMLS:C0546123",
      "icd11.foundation:1610331066"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 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": 18880,
      "label": "nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3191",
          "GARD:0012033",
          "ICD10CM:G71.21",
          "MEDGEN:61528",
          "MESH:D017696",
          "NANDO:1200478",
          "NANDO:2200869",
          "OMIMPS:256030",
          "Orphanet:607",
          "SCTID:75072002",
          "UMLS:C0206157",
          "icd11.foundation:1996502540"
        ],
        "synonyms": [
          "NEM",
          "NM",
          "nemaline body disease",
          "nemaline myopathy",
          "nemaline rod myopathy",
          "rod myopathy",
          "Rod body disease",
          "Rod-body myopathy",
          "congenital rod disease",
          "nemaline rod disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018958"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "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": 18880,
      "label": "nemaline myopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}