{
  "id": 13276,
  "label": "myofibrillar myopathy 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012215",
  "properties": {
    "xrefs": [
      "DOID:0080094",
      "DOID:0110300",
      "GARD:0016871",
      "MEDGEN:811509",
      "MESH:C000598645",
      "MESH:C535906",
      "MESH:C563775",
      "OMIM:159000",
      "OMIM:182920",
      "OMIM:609200",
      "Orphanet:266",
      "Orphanet:268129",
      "Orphanet:98911",
      "SCTID:719985001",
      "SCTID:765092004",
      "SCTID:765196004",
      "UMLS:C3714934"
    ],
    "synonyms": [
      "LGMD1A",
      "MYOT autosomal dominant distal myopathy",
      "MYOT autosomal dominant limb-girdle muscular dystrophy",
      "MYOT-related myofibrillar myopathy",
      "autosomal dominant distal myopathy caused by mutation in MYOT",
      "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT",
      "autosomal dominant limb-girdle muscular dystrophy type 1A",
      "distal myotilinopathy",
      "myofibrillar myopathy type 3",
      "myopathy, myofibrillar, type 3",
      "myotilinopathy",
      "spheroid body myopathy",
      "LGMD1",
      "MFM3",
      "autosomal dominant spheroid body myopathy",
      "limb-girdle muscular dystrophy type 1A",
      "muscular dystrophy, limb-girdle, type 1A",
      "muscular dystrophy, proximal, type 1A",
      "myopathy, myofibrillar, 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years."
  },
  "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": 16083,
      "label": "muscular dystrophy, limb-girdle, autosomal dominant",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        17384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110273",
          "GARD:0019824",
          "MEDGEN:1826162",
          "OMIMPS:603511",
          "Orphanet:102014",
          "UMLS:C5675009",
          "icd11.foundation:537908479"
        ],
        "synonyms": [
          "autosomal dominant limb-girdle muscular dystrophy",
          "limb-girdle muscular dystrophy, autosomal dominant",
          "muscular dystrophy, limb-girdle, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of limb-girdle muscular dystrophy."
      },
      "child_count": 16,
      "reference_id": "MONDO:0015151"
    },
    {
      "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": 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": 16083,
      "label": "muscular dystrophy, limb-girdle, autosomal dominant"
    },
    {
      "id": 16734,
      "label": "autosomal dominant distal myopathy"
    },
    {
      "id": 18865,
      "label": "myofibrillar myopathy"
    }
  ]
}