{
  "id": 10899,
  "label": "Miyoshi myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009685",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    }
  ],
  "children": [
    {
      "id": 14257,
      "label": "Miyoshi muscular dystrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10899
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070200",
          "GARD:0015648",
          "MEDGEN:413751",
          "MESH:C567646",
          "OMIM:613318",
          "UMLS:C2750077"
        ],
        "synonyms": [
          "MMD2",
          "Miyoshi muscular dystrophy 2",
          "MIYOSHI muscular dystrophy 2",
          "Miyoshi myopathy 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013221"
    },
    {
      "id": 14258,
      "label": "Miyoshi muscular dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10899
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070201",
          "GARD:0017653",
          "MEDGEN:413750",
          "MESH:C567645",
          "OMIM:613319",
          "Orphanet:399096",
          "UMLS:C2750076"
        ],
        "synonyms": [
          "MMD3",
          "Miyoshi muscular dystrophy 3",
          "Miyoshi muscular dystrophy type 3",
          "distal anoctaminopathy",
          "Miyoshi myopathy 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013222"
    },
    {
      "id": 21490,
      "label": "Miyoshi muscular dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10899,
        16750
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024545"
    }
  ],
  "roots": [
    {
      "id": 18871,
      "label": "distal myopathy"
    }
  ]
}