{
  "id": 21490,
  "label": "Miyoshi muscular dystrophy 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024545",
  "properties": {
    "xrefs": [
      "DOID:0070199",
      "GARD:0025425",
      "MEDGEN:1640757",
      "OMIM:254130",
      "UMLS:C4551973"
    ],
    "synonyms": [
      "DYSF Miyoshi myopathy",
      "Miyoshi myopathy caused by mutation in DYSF",
      "MIYOSHI muscular dystrophy 1",
      "MMD1",
      "Miyoshi myopathy",
      "muscular dystrophy, distal, late-onset, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10899,
      "label": "Miyoshi myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070198",
          "GARD:0009676",
          "MEDGEN:1790866",
          "MESH:C537480",
          "NANDO:1200217",
          "NCIT:C118846",
          "OMIMPS:254130",
          "Orphanet:45448",
          "UMLS:C5553104"
        ],
        "synonyms": [
          "MM",
          "Miyoshi distal myopathy",
          "Miyoshi muscular dystrophy",
          "MMD1",
          "Miyoshi muscular dystrophy 1",
          "Miyoshi muscular dystrophy type 1",
          "muscular dystrophy, distal, late onset, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes."
      },
      "child_count": 3,
      "reference_id": "MONDO:0009685"
    },
    {
      "id": 16750,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of dysferlin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002003",
          "MEDGEN:419874",
          "MESH:C537995",
          "Orphanet:207073",
          "UMLS:C2931687"
        ],
        "synonyms": [
          "dysferlinopathy",
          "qualitative or quantitative defects of dysferlin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016145"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10899,
      "label": "Miyoshi myopathy"
    },
    {
      "id": 16750,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of dysferlin"
    }
  ]
}