{
  "id": 15145,
  "label": "nemaline myopathy 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014138",
  "properties": {
    "xrefs": [
      "DOID:0110930",
      "GARD:0015946",
      "MEDGEN:815539",
      "NCIT:C129871",
      "OMIM:615348",
      "UMLS:C3809209"
    ],
    "synonyms": [
      "KLHL40 nemaline myopathy",
      "NEM8",
      "nemaline myopathy 8",
      "nemaline myopathy caused by mutation in KLHL40",
      "nemaline myopathy type 8"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16495,
      "label": "severe congenital nemaline myopathy"
    }
  ]
}