{
  "id": 23851,
  "label": "SELENON-related myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100100",
  "properties": {
    "xrefs": [
      "GARD:0026047"
    ],
    "synonyms": [
      "SELENON-related myopathy",
      "SEPN1-related myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080100",
          "DOID:0081337",
          "GARD:0005898",
          "MEDGEN:124381",
          "MedDRA:10062547",
          "NANDO:1200477",
          "NANDO:2100234",
          "OMIMPS:117000",
          "Orphanet:97245",
          "UMLS:C0270960",
          "icd11.foundation:1185572073"
        ],
        "synonyms": [
          "congenital myopathy",
          "Batten Turner congenital myopathy",
          "myopathy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    }
  ],
  "children": [
    {
      "id": 12391,
      "label": "rigid spine muscular dystrophy 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18870,
        19668,
        23851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110633",
          "GARD:0024786",
          "MEDGEN:98047",
          "NCIT:C126691",
          "OMIM:602771",
          "SCTID:240063002",
          "UMLS:C0410180"
        ],
        "synonyms": [
          "classic MmD",
          "classic multiminicore disease",
          "classic multiminicore myopathy",
          "rigid spine syndrome",
          "MDRS1",
          "RSMD1",
          "RSS",
          "SELENON rigid spine syndrome",
          "minicore myopathy, severe classic form",
          "multicore myopathy, severe classic form",
          "multiminicore disease, severe classic form",
          "muscular dystrophy, congenital, Eichsfeld type",
          "muscular dystrophy, congenital, merosin-positive, with early spine rigidity",
          "muscular dystrophy, rigid spine, 1",
          "myopathy, SEPN1-related",
          "rigid spine muscular dystrophy 1",
          "rigid spine muscular dystrophy type 1",
          "rigid spine syndrome caused by mutation in SELENON",
          "SEPN1-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011271"
    }
  ],
  "roots": [
    {
      "id": 19669,
      "label": "congenital myopathy"
    }
  ]
}