{
  "id": 9706,
  "label": "congenital myopathy 7A, myosin storage, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008409",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3107,
      "label": "scapuloperoneal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17256
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0000727"
    },
    {
      "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": 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": 3107,
      "label": "scapuloperoneal myopathy"
    },
    {
      "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": 19669,
      "label": "congenital myopathy"
    }
  ]
}