{
  "id": 15924,
  "label": "myopathy, distal, with rimmed vacuoles",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014945",
  "properties": {
    "xrefs": [
      "DOID:0081363",
      "GARD:0016204",
      "MEDGEN:1728314",
      "NANDO:1200218",
      "OMIM:617158",
      "UMLS:C5399975"
    ],
    "synonyms": [
      "DMRV",
      "myopathy, distal, with rimmed vacuoles",
      "myopathy, distal, with rimmed vacuoles; DMRV"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18871,
      "label": "distal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11720",
          "GARD:0018699",
          "MEDGEN:155541",
          "NANDO:1200216",
          "NCIT:C84675",
          "OMIMPS:160500",
          "Orphanet:599",
          "SCTID:58795000",
          "UMLS:C0751336",
          "icd11.foundation:596283352"
        ],
        "synonyms": [
          "distal muscular dystrophy",
          "distal myopathy",
          "Miyoshi muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands."
      },
      "child_count": 11,
      "reference_id": "MONDO:0018949"
    },
    {
      "id": 25050,
      "label": "SQSTM1-related multisystem proteinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        20409
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026565"
        ],
        "synonyms": [
          "SQSTM1-related multisystem proteinopathy"
        ],
        "definition": "A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions."
      },
      "child_count": 6,
      "reference_id": "MONDO:0800464"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18871,
      "label": "distal myopathy"
    },
    {
      "id": 25050,
      "label": "SQSTM1-related multisystem proteinopathy"
    }
  ]
}