{
  "id": 15901,
  "label": "myofibrillar myopathy 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014922",
  "properties": {
    "xrefs": [
      "DOID:0080098",
      "GARD:0025034",
      "MEDGEN:934678",
      "OMIM:617114",
      "UMLS:C4310711"
    ],
    "synonyms": [
      "KY myofibrillar myopathy (disease)",
      "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy",
      "myofibrillar myopathy (disease) caused by mutation in KY",
      "myopathy, myofibrillar, 7",
      "myopathy, myofibrillar, type 7",
      "MFM7"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 18865,
      "label": "myofibrillar myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080307",
          "GARD:0010529",
          "HP:0003715",
          "ICD9:359.89",
          "MEDGEN:395532",
          "MESH:C580316",
          "NCIT:C83009",
          "OMIMPS:601419",
          "Orphanet:593",
          "SCTID:699269005",
          "UMLS:C2678065",
          "icd11.foundation:125656853"
        ],
        "synonyms": [
          "myofibrillar myopathy",
          "myofibrillar myopathy (disease)",
          "Alpha Beta crystallinopathy (type)",
          "Desminopathy (type)",
          "Protein surplus myopathy (former name)",
          "Zaspopathy (type)",
          "desmin related myopathy (former name)",
          "desmin storage myopathy (former name)",
          "filaminopathy (type)",
          "myofibrillar myopathies",
          "myotilinopathy (type)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients."
      },
      "child_count": 13,
      "reference_id": "MONDO:0018943"
    },
    {
      "id": 26613,
      "label": "KY-related neuromyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24271
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "KY-related neuromyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neuromyopathy in which the cause of the disease is mutation in the KY gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1010194"
    }
  ],
  "children": [
    {
      "id": 23378,
      "label": "kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        15901
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017912",
          "MEDGEN:1798876",
          "Orphanet:496686",
          "UMLS:C5567453"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044647"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 18865,
      "label": "myofibrillar myopathy"
    },
    {
      "id": 26613,
      "label": "KY-related neuromyopathy"
    }
  ]
}