{
  "id": 16782,
  "label": "neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016195",
  "properties": {
    "xrefs": [
      "GARD:0020434",
      "MEDGEN:1842636",
      "Orphanet:209185",
      "UMLS:C5680832"
    ],
    "synonyms": [
      "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020388",
          "MEDGEN:1842598",
          "Orphanet:207049",
          "UMLS:C5680807"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0016139"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9373,
      "label": "MYH7-related skeletal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16782,
        18871,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070197",
          "GARD:0010769",
          "MEDGEN:1647391",
          "OMIM:160500",
          "Orphanet:59135",
          "SCTID:764859001",
          "UMLS:C4552004"
        ],
        "synonyms": [
          "Laing distal myopathy",
          "MPD1",
          "MYH7-related skeletal myopathy",
          "distal myopathy type 1",
          "myopathy distal, type 1",
          "myopathy, distal, 1",
          "myopathy, distal, early-onset, autosomal dominant",
          "myopathy, distal, type 1",
          "myopathy, late distal hereditary",
          "myosin storage myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008050"
    },
    {
      "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": 18817,
      "label": "hyaline body myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16782,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111267",
          "GARD:0007148",
          "Orphanet:53698",
          "icd11.foundation:352828432"
        ],
        "synonyms": [
          "myosin storage myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018889"
    }
  ],
  "roots": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}