{
  "id": 4928,
  "label": "congenital structural myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002921",
  "properties": {
    "xrefs": [
      "DOID:422",
      "GARD:0023302",
      "MEDGEN:156050",
      "MESH:D020914",
      "NANDO:1200482",
      "NANDO:2200867",
      "NCIT:C84648",
      "UMLS:C0752282"
    ],
    "synonyms": [
      "centronuclear myopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "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": [
    {
      "id": 9371,
      "label": "autosomal dominant centronuclear myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        4928,
        18869
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111217",
          "DOID:0111223",
          "GARD:0012719",
          "MEDGEN:1645741",
          "NCIT:C126689",
          "OMIM:160150",
          "OMIM:614408",
          "Orphanet:169189",
          "SCTID:716696006",
          "UMLS:C4551952"
        ],
        "synonyms": [
          "AD-CNM",
          "CNM1",
          "autosomal dominant centronuclear myopathy",
          "autosomal dominant centronuclear myopathy caused by mutation in MYF6",
          "centronuclear myopathy 1",
          "centronuclear myopathy, autosomal dominant",
          "centronuclear myopathy, autosomal, modifier of",
          "myopathy, centronuclear, 1",
          "myopathy, centronuclear, 3",
          "myopathy, centronuclear, autosomal dominant",
          "myopathy, centronuclear, type 1",
          "myopathy, centronuclear, type 3",
          "myotubular myopathy, autosomal dominant",
          "CNM3",
          "DNM2-related centronuclear myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008048"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    },
    {
      "id": 10924,
      "label": "congenital fiber-type disproportion myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080102",
          "GARD:0006161",
          "MEDGEN:108177",
          "NANDO:1200483",
          "NANDO:2200868",
          "NCIT:C120046",
          "Orphanet:2020",
          "UMLS:C0546264"
        ],
        "synonyms": [
          "CFTDM",
          "congenital fiber-type disproportion",
          "congenital myopathy with fiber type disproportion",
          "congenital myopathy with fibre type disproportion",
          "congenital fiber type disproportion",
          "congenital fibre type disproportion",
          "myopathy, congenital with fiber-type disproportion"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur."
      },
      "child_count": 1,
      "reference_id": "MONDO:0009711"
    },
    {
      "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": 18880,
      "label": "nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3191",
          "GARD:0012033",
          "ICD10CM:G71.21",
          "MEDGEN:61528",
          "MESH:D017696",
          "NANDO:1200478",
          "NANDO:2200869",
          "OMIMPS:256030",
          "Orphanet:607",
          "SCTID:75072002",
          "UMLS:C0206157",
          "icd11.foundation:1996502540"
        ],
        "synonyms": [
          "NEM",
          "NM",
          "nemaline body disease",
          "nemaline myopathy",
          "nemaline rod myopathy",
          "rod myopathy",
          "Rod body disease",
          "Rod-body myopathy",
          "congenital rod disease",
          "nemaline rod disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018958"
    },
    {
      "id": 26574,
      "label": "autosomal dominant nebulin-related myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        4928
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028130"
        ],
        "synonyms": [
          "autosomal dominant nebulin-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any myopathy in which an autosomal dominantly inherited genetic variation in the NEB gene causes disease via a dominant-negative mechanism. Symptoms reported in patients include distal muscle weakness, hypotonia, muscle fiber atrophy, foot drop, high arched palate, feeding difficulties, and type 1 fiber predominance."
      },
      "child_count": 0,
      "reference_id": "MONDO:1010152"
    }
  ],
  "roots": [
    {
      "id": 19669,
      "label": "congenital myopathy"
    }
  ]
}