{
  "id": 16779,
  "label": "neuromuscular disease caused by qualitative or quantitative defects of telethonin",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016192",
  "properties": {
    "xrefs": [
      "GARD:0020431",
      "MEDGEN:1842233",
      "Orphanet:209056",
      "UMLS:C5680842"
    ],
    "synonyms": [
      "qualitative or quantitative defects of telethonin"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020388",
          "MEDGEN:1842598",
          "Orphanet:207049",
          "UMLS:C5680807"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0016139"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 12292,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16084,
        16779
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110281",
          "GARD:0010471",
          "MEDGEN:400895",
          "MESH:C566599",
          "OMIM:601954",
          "Orphanet:34514",
          "SCTID:720522001",
          "UMLS:C1866008"
        ],
        "synonyms": [
          "LGMD2G",
          "TCAP autosomal recessive limb-girdle muscular dystrophy",
          "Tcap autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap",
          "limb-girdle muscular dystrophy due to telethonin deficiency",
          "muscular dystrophy, limb-girdle, autosomal recessive 7",
          "muscular dystrophy, limb-girdle, type 2G",
          "limb-girdle muscular dystrophy, type 2G"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011170"
    },
    {
      "id": 12924,
      "label": "hypertrophic cardiomyopathy 25",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16779,
        16878,
        21518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110328",
          "GARD:0024827",
          "MEDGEN:895360",
          "MESH:C564388",
          "OMIM:607487",
          "UMLS:C4225408"
        ],
        "synonyms": [
          "CMH25",
          "TCAP hypertrophic cardiomyopathy",
          "Tcap hypertrophic cardiomyopathy",
          "cardiomyopathy, familial hypertrophic, type 25",
          "cardiomyopathy, hypertrophic, 25",
          "hypertrophic cardiomyopathy caused by mutation in TCAP",
          "hypertrophic cardiomyopathy type 25",
          "cardiomyopathy, familial hypertrophic, 25"
        ],
        "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 TCAP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011843"
    }
  ],
  "roots": [
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}