{
  "id": 9373,
  "label": "MYH7-related skeletal myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008050",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16782,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0016195"
    },
    {
      "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": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080100",
          "DOID:0081337",
          "GARD:0005898",
          "MEDGEN:124381",
          "MedDRA:10062547",
          "NANDO:1200477",
          "NANDO:2100234",
          "OMIMPS:117000",
          "Orphanet:97245",
          "UMLS:C0270960",
          "icd11.foundation:1185572073"
        ],
        "synonyms": [
          "congenital myopathy",
          "Batten Turner congenital myopathy",
          "myopathy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16782,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)"
    },
    {
      "id": 18871,
      "label": "distal myopathy"
    },
    {
      "id": 19669,
      "label": "congenital myopathy"
    }
  ]
}