{
  "id": 24220,
  "label": "autosomal dominant titinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100494",
  "properties": {
    "xrefs": [
      "GARD:0026247"
    ],
    "synonyms": [
      "TTN-related myopathy, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal dominant form of TTN-related myopathy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 12004,
      "label": "tibial muscular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734,
        24220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111078",
          "GARD:0013154",
          "MEDGEN:333047",
          "OMIM:600334",
          "Orphanet:609",
          "SCTID:698846009",
          "UMLS:C1838244"
        ],
        "synonyms": [
          "Finnish tibial muscular dystrophy",
          "TMD",
          "Udd myopathy",
          "distal myopathy, Udd type",
          "distal titinopathy",
          "tardive tibial muscular dystrophy",
          "Tmd",
          "tibial muscular dystrophy, tardive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010870"
    },
    {
      "id": 12472,
      "label": "myopathy, myofibrillar, 9, with early respiratory failure",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16732,
        16734,
        16735,
        24220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111188",
          "GARD:0012591",
          "MEDGEN:350930",
          "MESH:C564377",
          "MESH:C566343",
          "OMIM:603689",
          "OMIM:607569",
          "Orphanet:178464",
          "Orphanet:34521",
          "SCTID:702373006",
          "SCTID:733490006",
          "UMLS:C1863599"
        ],
        "synonyms": [
          "ADMERF",
          "Edstrom myopathy",
          "Edström myopathy",
          "HIBM-ERF",
          "HMERF",
          "HMERF-ERF",
          "distal myopathy with early respiratory muscle involvement",
          "hereditary inclusion body myopathy with early respiratory failure",
          "hereditary proximal myopathy with early respiratory failure",
          "myofibrillar myopathy with early respiratory failure",
          "myopathy, distal, with early respiratory failure, autosomal dominant",
          "myopathy, proximal, with early respiratory muscle involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011362"
    },
    {
      "id": 12505,
      "label": "dilated cardiomyopathy 1G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24220,
        24709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110430",
          "GARD:0015363",
          "MEDGEN:347714",
          "MESH:C565824",
          "OMIM:604145",
          "UMLS:C1858763"
        ],
        "synonyms": [
          "CMD1G",
          "TTN familial isolated dilated cardiomyopathy",
          "cardiomyopathy, dilated, type 1G",
          "dilated cardiomyopathy type 1G",
          "familial isolated dilated cardiomyopathy caused by mutation in TTN",
          "cardiomyopathy, dilated, 1G"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011400"
    },
    {
      "id": 14444,
      "label": "hypertrophic cardiomyopathy 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21518,
        24220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110315",
          "GARD:0024921",
          "MEDGEN:348780",
          "MESH:C566044",
          "OMIM:613765",
          "UMLS:C1861065"
        ],
        "synonyms": [
          "CMH9",
          "TTN hypertrophic cardiomyopathy",
          "cardiomyopathy, familial hypertrophic, 9",
          "cardiomyopathy, familial hypertrophic, type 9",
          "hypertrophic cardiomyopathy caused by mutation in TTN",
          "hypertrophic cardiomyopathy type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013412"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 23917,
      "label": "TTN-related myopathy"
    }
  ]
}