{
  "id": 24219,
  "label": "autosomal recessive titinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100493",
  "properties": {
    "xrefs": [
      "GARD:0026246"
    ],
    "synonyms": [
      "TTN-related myopathy, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive form of TTN-related myopathy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 23917,
      "label": "TTN-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16778,
        19669,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026073"
        ],
        "synonyms": [
          "TTN myopathy",
          "congenital myopathy related to TTN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100175"
    }
  ],
  "children": [
    {
      "id": 13193,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2J",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        24219
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110283",
          "GARD:0012534",
          "MEDGEN:324741",
          "MESH:C563854",
          "OMIM:608807",
          "Orphanet:140922",
          "UMLS:C1837342"
        ],
        "synonyms": [
          "LGMD2J",
          "TTN autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN",
          "muscular dystrophy, limb-girdle, autosomal recessive 10",
          "muscular dystrophy, limb-girdle, type 2J",
          "limb-girdle muscular dystrophy type 2J"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012127"
    },
    {
      "id": 13754,
      "label": "early-onset myopathy with fatal cardiomyopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16878,
        24219,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081341",
          "GARD:0017324",
          "MEDGEN:435983",
          "MESH:C567129",
          "OMIM:611705",
          "Orphanet:289377",
          "SCTID:702343002",
          "UMLS:C2673677"
        ],
        "synonyms": [
          "Salih myopathy",
          "EOMFC",
          "SALMY",
          "myopathy, early-onset, with fatal cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012714"
    },
    {
      "id": 16469,
      "label": "autosomal recessive centronuclear myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18869,
        24219
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111216",
          "GARD:0012718",
          "MEDGEN:771131",
          "Orphanet:169186",
          "SCTID:240081004",
          "UMLS:C3645536",
          "icd11.foundation:1844602815"
        ],
        "synonyms": [
          "AR-CNM",
          "centronuclear myopathy, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy."
      },
      "child_count": 4,
      "reference_id": "MONDO:0015705"
    },
    {
      "id": 18138,
      "label": "classic multiminicore myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18870,
        24219
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013661",
          "HP:0003789",
          "MEDGEN:1826166",
          "Orphanet:324604",
          "UMLS:C5679883"
        ],
        "synonyms": [
          "classic MmD",
          "classic multiminicore disease",
          "classic multiminicore myopathy",
          "minicore myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017939"
    },
    {
      "id": 24221,
      "label": "autosomal recessive distal titinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24219
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026248"
        ],
        "synonyms": [
          "distal titinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs. Described as a more severe tibial muscular dystrophy phenotype, distal titinopathy is associated with earlier onset and progression to include soleus muscle and proximal muscles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100495"
    },
    {
      "id": 24222,
      "label": "Emery-Dreifuss-like muscular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24219
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026249"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100496"
    },
    {
      "id": 24223,
      "label": "titinopathy with congenital contractures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24219
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026250"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A prenatal/infant-onset muscle disorder characterized by limb contractures, muscle weakness (often with significant axial involvement), long bone fractures, and/or cardiac abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100497"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 23917,
      "label": "TTN-related myopathy"
    }
  ]
}