{
  "id": 3107,
  "label": "scapuloperoneal myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000727",
  "properties": {
    "xrefs": [
      "DOID:0060253",
      "GARD:0022820",
      "MEDGEN:419759",
      "MESH:C536624",
      "UMLS:C2931268"
    ],
    "synonyms": [
      "myopathy, scapuloperoneal",
      "scapuloperoneal syndrome, myopathic type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17256,
      "label": "Emery-Dreifuss muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        16878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11726",
          "GARD:0006329",
          "MEDGEN:96078",
          "MESH:D020389",
          "NANDO:1200492",
          "NANDO:2200857",
          "NCIT:C84685",
          "NORD:1084",
          "OMIMPS:310300",
          "Orphanet:261",
          "SCTID:111508004",
          "UMLS:C0410189",
          "icd11.foundation:749295636"
        ],
        "synonyms": [
          "EDMD",
          "Emery Dreifuss Muscular Dystrophy",
          "Emery-Dreifuss muscular dystrophy",
          "Humeroperoneal neuromuscular disease, (formerly)",
          "scapuloperoneal syndrome, X-linked (formerly)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016830"
    }
  ],
  "children": [
    {
      "id": 9706,
      "label": "congenital myopathy 7A, myosin storage, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3107,
        4427,
        16782,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111269",
          "GARD:0015429",
          "ICD9:359.89",
          "MEDGEN:374868",
          "MESH:C564253",
          "OMIM:181430",
          "OMIM:608358",
          "Orphanet:437572",
          "Orphanet:636965",
          "UMLS:C1842160"
        ],
        "synonyms": [
          "MSMA",
          "MYH7-related late-onset SPMD",
          "MYH7-related late-onset scapuloperoneal muscular dystrophy",
          "MYH7-related late-onset scapuloperoneal syndrome",
          "MYH7-related scapuloperoneal myopathy",
          "SPMD",
          "SPMM",
          "autosomal dominant myosin storage myopathy",
          "myopathy with lysis of type 1 myofibrils",
          "myopathy, hyaline body, autosomal dominant",
          "myopathy, myosin storage, autosomal dominant",
          "scapuloperoneal muscular dystrophy",
          "scapuloperoneal myopathy, MYH7-related",
          "scapuloperoneal syndrome, myopathic type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008409"
    },
    {
      "id": 11561,
      "label": "X-linked scapuloperoneal muscular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3107,
        25048
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007608",
          "MEDGEN:395530",
          "OMIM:300695",
          "Orphanet:431272",
          "UMLS:C2678061"
        ],
        "synonyms": [
          "X-linked SPMD",
          "X-linked scapuloperoneal syndrome",
          "scapuloperoneal myopathy, X-linked dominant, X-linked dominant",
          "SPM",
          "scapuloperoneal myopathy, FHL1-related",
          "scapuloperoneal myopathy, X-linked dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010400"
    }
  ],
  "roots": [
    {
      "id": 17256,
      "label": "Emery-Dreifuss muscular dystrophy"
    }
  ]
}