{
  "id": 19228,
  "label": "desmin-related myopathy with Mallory body-like inclusions",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019398",
  "properties": {
    "xrefs": [
      "GARD:0016732",
      "MEDGEN:898925",
      "Orphanet:84132",
      "UMLS:C4275073",
      "icd11.foundation:998522839"
    ],
    "synonyms": [
      "early-onset desmin-related myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 16735,
      "label": "hereditary inclusion-body myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020364",
          "MEDGEN:1843174",
          "Orphanet:206662",
          "UMLS:C5680794"
        ],
        "synonyms": [
          "inclusion myopathy",
          "cytoplasmic body myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 16,
      "reference_id": "MONDO:0016112"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12391,
      "label": "rigid spine muscular dystrophy 1"
    },
    {
      "id": 16735,
      "label": "hereditary inclusion-body myopathy"
    }
  ]
}