{
  "id": 13336,
  "label": "myofibrillar myopathy 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012277",
  "properties": {
    "xrefs": [
      "DOID:0080095",
      "GARD:0001886",
      "MEDGEN:1648314",
      "MESH:C563718",
      "OMIM:609452",
      "Orphanet:98912",
      "UMLS:C4721886"
    ],
    "synonyms": [
      "LDB3 myofibrillar myopathy (disease)",
      "ZASP-related myofibrillar myopathy",
      "myofibrillar myopathy (disease) caused by mutation in LDB3",
      "myofibrillar myopathy type 4",
      "myopathy, myofibrillar, type 4",
      "MFM4",
      "late-onset distal myopathy, Markesbery-Griggs type",
      "myopathy, myofibrillar, 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases."
  },
  "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": 16734,
      "label": "autosomal dominant distal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020361",
          "MEDGEN:1826097",
          "Orphanet:206650",
          "UMLS:C5680803"
        ],
        "synonyms": [
          "distal myopathy, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of distal myopathy."
      },
      "child_count": 30,
      "reference_id": "MONDO:0016108"
    },
    {
      "id": 16777,
      "label": "qualitative or quantitative defects of protein ZASP",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16773
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020429",
          "MEDGEN:1842575",
          "Orphanet:209050",
          "UMLS:C5680840"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0016190"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16734,
      "label": "autosomal dominant distal myopathy"
    },
    {
      "id": 16777,
      "label": "qualitative or quantitative defects of protein ZASP"
    },
    {
      "id": 18865,
      "label": "myofibrillar myopathy"
    }
  ]
}